diff --git a/data/efo_otar_slim_v3.43.0_rs_classification.tsv b/data/efo_otar_slim_v3.43.0_rs_classification.tsv new file mode 100644 index 0000000..36827c2 --- /dev/null +++ b/data/efo_otar_slim_v3.43.0_rs_classification.tsv @@ -0,0 +1,23557 @@ +efo_otar_slim_id efo_label rs_classification +DOID:0050890 synucleinopathy 03-disease-area +DOID:10113 trypanosomiasis 02-disease-root +DOID:10718 giardiasis 02-disease-root +DOID:13406 pulmonary sarcoidosis 01-disease-subtype +DOID:1947 trichomoniasis 02-disease-root +DOID:7551 gonorrhea 02-disease-root +EFO:0000094 B-cell acute lymphoblastic leukemia 01-disease-subtype +EFO:0000095 chronic lymphocytic leukemia 02-disease-root +EFO:0000096 neoplasm of mature B-cells 02-disease-root +EFO:0000174 Ewing sarcoma 01-disease-subtype +EFO:0000178 gastric carcinoma 01-disease-subtype +EFO:0000180 HIV-1 infection 01-disease-subtype +EFO:0000181 head and neck squamous cell carcinoma 01-disease-subtype +EFO:0000182 hepatocellular carcinoma 01-disease-subtype +EFO:0000183 Hodgkins lymphoma 02-disease-root +EFO:0000186 invasive breast ductal carcinoma 01-disease-subtype +EFO:0000191 MALT lymphoma 01-disease-subtype +EFO:0000195 metabolic syndrome 02-disease-root +EFO:0000196 metastatic prostate cancer 01-disease-subtype +EFO:0000197 mucinous carcinoma 03-disease-area +EFO:0000198 myelodysplastic syndrome 02-disease-root +EFO:0000199 oral squamous cell carcinoma 01-disease-subtype +EFO:0000200 plasma cell neoplasm 03-disease-area +EFO:0000203 monoclonal gammopathy 02-disease-root +EFO:0000205 stage I endometrioid carcinoma 01-disease-subtype +EFO:0000206 stage II endometrioid carcinoma 01-disease-subtype +EFO:0000209 T-cell acute lymphoblastic leukemia 01-disease-subtype +EFO:0000211 unspecified peripheral T-cell lymphoma 02-disease-root +EFO:0000216 acinar cell carcinoma 03-disease-area +EFO:0000217 gastritis 02-disease-root +EFO:0000218 acute erythroleukemia 01-disease-subtype +EFO:0000220 acute lymphoblastic leukemia 02-disease-root +EFO:0000221 acute monocytic leukemia 01-disease-subtype +EFO:0000222 acute myeloid leukemia 02-disease-root +EFO:0000223 acute myelomonocytic leukemia 01-disease-subtype +EFO:0000224 acute promyelocytic leukemia 01-disease-subtype +EFO:0000225 acute quadriplegic myopathy 02-disease-root +EFO:0000228 adenocarcinoma 03-disease-area +EFO:0000231 adenoid cystic carcinoma 02-disease-root +EFO:0000232 adenoma 03-disease-area +EFO:0000233 adenosquamous lung carcinoma 01-disease-subtype +EFO:0000239 adrenal gland pheochromocytoma 02-disease-root +EFO:0000246 age 04-non-disease +EFO:0000248 alveolar rhabdomyosarcoma 01-disease-subtype +EFO:0000255 angioimmunoblastic T-cell lymphoma 01-disease-subtype +EFO:0000266 aortic stenosis 01-disease-subtype +EFO:0000272 astrocytoma 03-disease-area +EFO:0000274 atopic eczema 02-disease-root +EFO:0000275 atrial fibrillation 02-disease-root +EFO:0000278 pancreatitis 03-disease-area +EFO:0000279 azoospermia 02-disease-root +EFO:0000280 Barrett's esophagus 02-disease-root +EFO:0000281 basal-like breast carcinoma 01-disease-subtype +EFO:0000284 benign prostatic hyperplasia 02-disease-root +EFO:0000287 biopsy number 04-non-disease +EFO:0000289 bipolar disorder 02-disease-root +EFO:0000294 bladder tumor 03-disease-area +EFO:0000304 breast adenocarcinoma 01-disease-subtype +EFO:0000305 breast carcinoma 01-disease-subtype +EFO:0000306 breast tumor luminal 01-disease-subtype +EFO:0000308 bronchoalveolar adenocarcinoma 01-disease-subtype +EFO:0000309 Burkitts lymphoma 01-disease-subtype +EFO:0000311 cancer 03-disease-area +EFO:0000313 carcinoma 03-disease-area +EFO:0000318 cardiomyopathy 02-disease-root +EFO:0000319 cardiovascular disease 03-disease-area +EFO:0000326 central nervous system cancer 03-disease-area +EFO:0000330 childhood acute myeloid leukemia 01-disease-subtype +EFO:0000331 chondroblastoma 02-disease-root +EFO:0000332 chondromyxoid fibroma 02-disease-root +EFO:0000333 chondrosarcoma 02-disease-root +EFO:0000335 chromophobe renal cell carcinoma 02-disease-root +EFO:0000337 chronic gastritis 01-disease-subtype +EFO:0000339 chronic myelogenous leukemia 01-disease-subtype +EFO:0000341 chronic obstructive pulmonary disease 02-disease-root +EFO:0000342 chronic pancreatitis 02-disease-root +EFO:0000348 clear cell adenocarcinoma 03-disease-area +EFO:0000349 clear cell renal carcinoma 01-disease-subtype +EFO:0000350 clear cell sarcoma of the kidney 01-disease-subtype +EFO:0000364 colon mucinous adenocarcinoma 01-disease-subtype +EFO:0000365 colorectal adenocarcinoma 02-disease-root +EFO:0000373 congestive heart failure 02-disease-root +EFO:0000384 Crohn's disease 02-disease-root +EFO:0000388 electrical current 04-non-disease +EFO:0000389 cutaneous melanoma 01-disease-subtype +EFO:0000391 damage intensity 04-non-disease +EFO:0000394 dedifferentiated chondrosarcoma 01-disease-subtype +EFO:0000397 dermal neurofibroma 01-disease-subtype +EFO:0000398 dermatomyositis 02-disease-root +EFO:0000400 diabetes mellitus 02-disease-root +EFO:0000401 diabetic nephropathy 02-disease-root +EFO:0000402 diffuse gastric adenocarcinoma 01-disease-subtype +EFO:0000403 diffuse large B-cell lymphoma 02-disease-root +EFO:0000404 diffuse scleroderma 01-disease-subtype +EFO:0000407 dilated cardiomyopathy 01-disease-subtype +EFO:0000409 disease free survival 04-non-disease +EFO:0000412 distant metastasis free survival 04-non-disease +EFO:0000428 dose 04-non-disease +EFO:0000432 breast ductal carcinoma in situ 01-disease-subtype +EFO:0000433 duration 04-non-disease +EFO:0000437 embryonal rhabdomyosarcoma 01-disease-subtype +EFO:0000464 emphysema 01-disease-subtype +EFO:0000465 endocarditis 02-disease-root +EFO:0000466 endometrioid carcinoma 02-disease-root +EFO:0000474 epilepsy 02-disease-root +EFO:0000478 esophageal adenocarcinoma 01-disease-subtype +EFO:0000479 essential thrombocythemia 02-disease-root +EFO:0000480 event death 04-non-disease +EFO:0000482 event free survival time 04-non-disease +EFO:0000483 exercise 04-non-disease +EFO:0000489 extra-adrenal sympathetic paraganglioma 02-disease-root +EFO:0000495 fetal growth restriction 02-disease-root +EFO:0000497 fibromatosis 02-disease-root +EFO:0000499 follicular thyroid adenoma 01-disease-subtype +EFO:0000500 ganglioneuroma 02-disease-root +EFO:0000501 follicular thyroid carcinoma 01-disease-subtype +EFO:0000502 ganglioneuroblastoma 02-disease-root +EFO:0000503 gastric adenocarcinoma 01-disease-subtype +EFO:0000504 gastric intestinal type adenocarcinoma 01-disease-subtype +EFO:0000508 genetic disorder 03-disease-area +EFO:0000512 reproductive system disease 03-disease-area +EFO:0000513 genotype 04-non-disease +EFO:0000514 germ cell tumor 02-disease-root +EFO:0000516 glaucoma 02-disease-root +EFO:0000519 glioblastoma multiforme 02-disease-root +EFO:0000536 hyperplasia 03-disease-area +EFO:0000537 hypertension 02-disease-root +EFO:0000538 hypertrophic cardiomyopathy 01-disease-subtype +EFO:0000540 immune system disease 03-disease-area +EFO:0000544 infection 04-non-disease +EFO:0000545 infertility 03-disease-area +EFO:0000546 injury 04-non-disease +EFO:0000549 insulinoma 01-disease-subtype +EFO:0000551 intracranial hemorrhage 03-disease-area +EFO:0000552 invasive breast ductal and lobular carcinoma 01-disease-subtype +EFO:0000553 invasive lobular carcinoma 01-disease-subtype +EFO:0000555 irritable bowel syndrome 02-disease-root +EFO:0000556 ischemia 04-non-disease +EFO:0000557 juvenile dermatomyositis 01-disease-subtype +EFO:0000558 Kaposi's sarcoma 01-disease-subtype +EFO:0000559 keratinizing squamous cell carcinoma 01-disease-subtype +EFO:0000563 large cell neuroendocrine carcinoma 02-disease-root +EFO:0000564 leiomyosarcoma 01-disease-subtype +EFO:0000565 leukemia 03-disease-area +EFO:0000569 liposarcoma 01-disease-subtype +EFO:0000571 lung adenocarcinoma 01-disease-subtype +EFO:0000574 lymphoma 03-disease-area +EFO:0000580 medullary breast carcinoma 01-disease-subtype +EFO:0000584 infectious meningitis 03-disease-area +EFO:0000588 mesothelioma 02-disease-root +EFO:0000589 metabolic disease 03-disease-area +EFO:0000595 monophasic synovial sarcoma 01-disease-subtype +EFO:0000612 myocardial infarction 02-disease-root +EFO:0000613 myxoid liposarcoma 01-disease-subtype +EFO:0000616 neoplasm 03-disease-area +EFO:0000618 nervous system disease 03-disease-area +EFO:0000621 neuroblastoma 02-disease-root +EFO:0000622 neurofibroma 02-disease-root +EFO:0000625 nevus 03-disease-area +EFO:0000627 number of injections 04-non-disease +EFO:0000630 oligoastrocytoma 01-disease-subtype +EFO:0000632 oligodendroglioma 01-disease-subtype +EFO:0000633 operator variation 04-non-disease +EFO:0000637 osteosarcoma 02-disease-root +EFO:0000638 overall survival 04-non-disease +EFO:0000639 papillary cystadenocarcinoma 01-disease-subtype +EFO:0000640 papillary renal cell carcinoma 01-disease-subtype +EFO:0000641 papillary thyroid carcinoma 01-disease-subtype +EFO:0000648 period of infection 04-non-disease +EFO:0000649 periodontitis 01-disease-subtype +EFO:0000650 whooping cough 01-disease-subtype +EFO:0000651 phenotype 04-non-disease +EFO:0000653 phyllodes tumor 02-disease-root +EFO:0000658 plexiform neurofibroma 01-disease-subtype +EFO:0000660 polycystic ovary syndrome 02-disease-root +EFO:0000662 polyp 03-disease-area +EFO:0000666 portal hypertension 02-disease-root +EFO:0000668 preeclampsia 02-disease-root +EFO:0000673 prostate adenocarcinoma 01-disease-subtype +EFO:0000676 psoriasis 02-disease-root +EFO:0000677 mental or behavioural disorder 03-disease-area +EFO:0000678 pterygium 01-disease-subtype +EFO:0000681 renal cell carcinoma 01-disease-subtype +EFO:0000684 respiratory system disease 03-disease-area +EFO:0000685 rheumatoid arthritis 02-disease-root +EFO:0000686 risk status 04-non-disease +EFO:0000689 sampling time 04-non-disease +EFO:0000691 sarcoma 03-disease-area +EFO:0000693 schwannoma 01-disease-subtype +EFO:0000694 severe acute respiratory syndrome 02-disease-root +EFO:0000698 signet ring cell carcinoma 02-disease-root +EFO:0000699 Sjogren syndrome 02-disease-root +EFO:0000701 skin disease 03-disease-area +EFO:0000702 small cell lung carcinoma 02-disease-root +EFO:0000705 spindle cell tumor 02-disease-root +EFO:0000706 spondyloarthropathy 02-disease-root +EFO:0000707 squamous cell carcinoma 02-disease-root +EFO:0000708 squamous cell lung carcinoma 01-disease-subtype +EFO:0000712 stroke 02-disease-root +EFO:0000713 subarachnoid hemorrhage 02-disease-root +EFO:0000714 survival time 04-non-disease +EFO:0000717 systemic scleroderma 02-disease-root +EFO:0000718 exposure temperature 04-non-disease +EFO:0000719 temporal measurement 04-non-disease +EFO:0000721 time 04-non-disease +EFO:0000724 timepoint 04-non-disease +EFO:0000729 ulcerative colitis 02-disease-root +EFO:0000730 undifferentiated sarcoma 01-disease-subtype +EFO:0000731 uterine fibroid 01-disease-subtype +EFO:0000734 vitamin B12 deficiency 01-disease-subtype +EFO:0000736 well-differentiated liposarcoma 01-disease-subtype +EFO:0000737 well-differentiated sarcoma 02-disease-root +EFO:0000756 melanoma 02-disease-root +EFO:0000759 lipoma 02-disease-root +EFO:0000760 malignant peripheral nerve sheath tumor 02-disease-root +EFO:0000762 hepatocellular adenoma 02-disease-root +EFO:0000763 viral disease 03-disease-area +EFO:0000764 HIV infection 02-disease-root +EFO:0000765 AIDS 01-disease-subtype +EFO:0000767 idiopathic cardiomyopathy 01-disease-subtype +EFO:0000768 idiopathic pulmonary fibrosis 01-disease-subtype +EFO:0000769 Epstein-Barr virus infection 01-disease-subtype +EFO:0000770 malignant pleural mesothelioma 01-disease-subtype +EFO:0000771 bacterial disease 03-disease-area +EFO:0000772 pneumococcal infection 02-disease-root +EFO:0000773 temporal lobe epilepsy 02-disease-root +EFO:0000775 Whipple's disease 02-disease-root +EFO:0000776 Aeromonas hydrophila infection 02-disease-root +EFO:0000777 human granulocytic anaplasmosis 01-disease-subtype +EFO:0000778 anthrax infection 01-disease-subtype +EFO:0000779 Drosophila C virus infection 01-disease-subtype +EFO:0000780 Enterococcus faecalis infection 02-disease-root +EFO:0000781 Pectobacterium carotovorum infection 02-disease-root +EFO:0000782 Hibiscus chlorotic ringspot virus infection 02-disease-root +EFO:0000783 myositis 02-disease-root +EFO:0001054 leprosy 02-disease-root +EFO:0001055 borderline leprosy 01-disease-subtype +EFO:0001056 tuberculoid leprosy 01-disease-subtype +EFO:0001057 lepromatous leprosy 01-disease-subtype +EFO:0001060 celiac disease 02-disease-root +EFO:0001061 cervical carcinoma 03-disease-area +EFO:0001062 cytomegalovirus infection 02-disease-root +EFO:0001063 deafness 02-disease-root +EFO:0001064 Down syndrome 01-disease-subtype +EFO:0001065 endometriosis 02-disease-root +EFO:0001066 experimental autoimmune encephalomyelitis 02-disease-root +EFO:0001067 parasitic infection 03-disease-area +EFO:0001068 malaria 02-disease-root +EFO:0001069 nutritional disorder 03-disease-area +EFO:0001070 folate deficiency 04-non-disease +EFO:0001071 lung carcinoma 01-disease-subtype +EFO:0001072 memory impairment 04-non-disease +EFO:0001073 obesity 02-disease-root +EFO:0001074 morbid obesity 01-disease-subtype +EFO:0001075 ovarian carcinoma 02-disease-root +EFO:0001076 Pseudomonas infection 03-disease-area +EFO:0001077 Pseudomonas aeruginosa CF5 infection 01-disease-subtype +EFO:0001078 Pseudomonas aeruginosa PA14 infection 01-disease-subtype +EFO:0001356 familial amyotrophic lateral sclerosis 02-disease-root +EFO:0001357 sporadic amyotrophic lateral sclerosis 01-disease-subtype +EFO:0001358 post-traumatic stress disorder 02-disease-root +EFO:0001361 pulmonary arterial hypertension 01-disease-subtype +EFO:0001365 age-related macular degeneration 02-disease-root +EFO:0001376 synovial sarcoma 02-disease-root +EFO:0001378 multiple myeloma 02-disease-root +EFO:0001379 endocrine system disease 03-disease-area +EFO:0001380 hypopituitarism 03-disease-area +EFO:0001382 puberty 04-non-disease +EFO:0001416 cervical adenocarcinoma 02-disease-root +EFO:0001421 liver disease 03-disease-area +EFO:0001422 cirrhosis of liver 02-disease-root +EFO:0001423 encephalomyelitis 03-disease-area +EFO:0001425 ischemic cardiomyopathy 01-disease-subtype +EFO:0001444 measurement 04-non-disease +EFO:0001642 lymphoid neoplasm 03-disease-area +EFO:0001645 coronary artery disease 02-disease-root +EFO:0001663 prostate carcinoma 01-disease-subtype +EFO:0001666 aortic aneurysm 02-disease-root +EFO:0001668 human papilloma virus infection 02-disease-root +EFO:0001675 simian immunodeficiency virus infection 02-disease-root +EFO:0002087 fibrosarcoma 02-disease-root +EFO:0002422 benign neoplasm 03-disease-area +EFO:0002423 osteoma 02-disease-root +EFO:0002424 fibroma 02-disease-root +EFO:0002425 neoplasm of immature B and T cells 03-disease-area +EFO:0002426 neoplasm of mature T-cells or NK-cells 03-disease-area +EFO:0002427 myeloid neoplasm 03-disease-area +EFO:0002428 chronic myeloproliferative disorder 03-disease-area +EFO:0002429 polycythemia vera 02-disease-root +EFO:0002430 primary myelofibrosis 02-disease-root +EFO:0002431 tumour of cranial and spinal nerves 03-disease-area +EFO:0002460 hypertrophy 04-non-disease +EFO:0002461 skeletal system disease 03-disease-area +EFO:0002496 actinic keratosis 02-disease-root +EFO:0002497 acute hypotension 01-disease-subtype +EFO:0002498 aggressive insulitis 02-disease-root +EFO:0002499 anaplastic astrocytoma 01-disease-subtype +EFO:0002500 anaplastic oligoastrocytoma 01-disease-subtype +EFO:0002501 anaplastic oligodendroglioma 01-disease-subtype +EFO:0002502 benign insulitis 02-disease-root +EFO:0002503 cardiac hypertrophy 04-non-disease +EFO:0002504 serous cystadenoma 01-disease-subtype +EFO:0002507 ovarian adenoma benign 02-disease-root +EFO:0002509 progressive external ophthalmoplegia 02-disease-root +EFO:0002510 serous cystadenofibroma 01-disease-subtype +EFO:0002511 simple cystadenoma 01-disease-subtype +EFO:0002517 pancreatic ductal adenocarcinoma 01-disease-subtype +EFO:0002546 abnormal glucose tolerance 04-non-disease +EFO:0002571 medical procedure 04-non-disease +EFO:0002581 pancreatectomy 04-non-disease +EFO:0002608 AIDS dementia 02-disease-root +EFO:0002609 juvenile idiopathic arthritis 02-disease-root +EFO:0002610 cocaine dependence 02-disease-root +EFO:0002612 human herpesvirus 8 infection 01-disease-subtype +EFO:0002613 iatrogenic Kaposi's sarcoma 01-disease-subtype +EFO:0002614 insulin resistance 04-non-disease +EFO:0002615 internal carotid artery stenosis 02-disease-root +EFO:0002616 macroglobulinemia 01-disease-subtype +EFO:0002617 metastatic melanoma 01-disease-subtype +EFO:0002618 pancreatic carcinoma 02-disease-root +EFO:0002621 prostate intraepithelial neoplasia 01-disease-subtype +EFO:0002622 rotavirus infection 02-disease-root +EFO:0002623 septic peritonitis 01-disease-subtype +EFO:0002626 thymus neoplasm 03-disease-area +EFO:0002627 vulvar intraepithelial neoplasia 02-disease-root +EFO:0002628 peripartum cardiomyopathy 01-disease-subtype +EFO:0002629 viral cardiomyopathy 01-disease-subtype +EFO:0002630 restrictive cardiomyopathy 03-disease-area +EFO:0002686 atopy 02-disease-root +EFO:0002687 ischemia reperfusion injury 04-non-disease +EFO:0002689 antiphospholipid syndrome 02-disease-root +EFO:0002690 systemic lupus erythematosus 02-disease-root +EFO:0002756 fasting 04-non-disease +EFO:0002890 renal carcinoma 01-disease-subtype +EFO:0002892 thyroid carcinoma 03-disease-area +EFO:0002893 choriocarcinoma 01-disease-subtype +EFO:0002894 amelanotic skin melanoma 01-disease-subtype +EFO:0002913 Cutaneous T-cell lymphoma 02-disease-root +EFO:0002914 uterine sarcoma 01-disease-subtype +EFO:0002916 esophageal carcinoma 01-disease-subtype +EFO:0002917 ovarian serous adenocarcinoma 01-disease-subtype +EFO:0002918 rhabdomyosarcoma 01-disease-subtype +EFO:0002919 uterine carcinoma 03-disease-area +EFO:0002920 vulva sarcoma 01-disease-subtype +EFO:0002921 vulvar carcinoma 01-disease-subtype +EFO:0002938 hypopharyngeal carcinoma 01-disease-subtype +EFO:0002939 medulloblastoma 02-disease-root +EFO:0002945 familial cardiomyopathy 01-disease-subtype +EFO:0002950 pregnancy 04-non-disease +EFO:0002970 muscular disease 03-disease-area +EFO:0003014 breast fibrocystic disease 03-disease-area +EFO:0003015 aggressive behavior 04-non-disease +EFO:0003016 collecting duct carcinoma 01-disease-subtype +EFO:0003017 transitional cell carcinoma of kidney 01-disease-subtype +EFO:0003025 acute megakaryoblastic leukaemia 01-disease-subtype +EFO:0003026 minimally differentiated acute myeloblastic leukemia 01-disease-subtype +EFO:0003027 acute myeloblastic leukemia without maturation 01-disease-subtype +EFO:0003028 acute myeloblastic leukemia with maturation 01-disease-subtype +EFO:0003029 acute basophilic leukemia 01-disease-subtype +EFO:0003030 abscess 02-disease-root +EFO:0003032 anaplastic large cell lymphoma 02-disease-root +EFO:0003033 bacteriemia 02-disease-root +EFO:0003035 cellulitis 01-disease-subtype +EFO:0003046 heart transplant rejection 04-non-disease +EFO:0003047 hepatitis C virus infection 02-disease-root +EFO:0003050 large cell lung carcinoma 01-disease-subtype +EFO:0003060 non-small cell lung carcinoma 02-disease-root +EFO:0003063 polymyositis 01-disease-subtype +EFO:0003073 asymptomatic myeloma 01-disease-subtype +EFO:0003075 xanthoma 02-disease-root +EFO:0003083 pleomorphic liposarcoma 01-disease-subtype +EFO:0003084 round cell liposarcoma 01-disease-subtype +EFO:0003085 dedifferentiated liposarcoma 01-disease-subtype +EFO:0003086 kidney disease 03-disease-area +EFO:0003094 ganglioglioma 02-disease-root +EFO:0003095 non-alcoholic fatty liver disease 02-disease-root +EFO:0003096 Pick disease 01-disease-subtype +EFO:0003097 empyema 02-disease-root +EFO:0003099 Cushing syndrome 02-disease-root +EFO:0003100 peripheral neuropathy 03-disease-area +EFO:0003101 testicular seminoma 01-disease-subtype +EFO:0003102 osteomyelitis 02-disease-root +EFO:0003103 urinary tract infection 03-disease-area +EFO:0003104 adrenocortical adenoma 02-disease-root +EFO:0003105 spina bifida 02-disease-root +EFO:0003106 pneumonia 02-disease-root +EFO:0003108 essential tremor 02-disease-root +EFO:0003110 villitis 01-disease-subtype +EFO:0003144 heart failure 02-disease-root +EFO:0003145 high output heart failure 01-disease-subtype +EFO:0003146 symptomatic heart failure 01-disease-subtype +EFO:0003147 mild heart failure 01-disease-subtype +EFO:0003148 moderate heart failure 01-disease-subtype +EFO:0003149 advanced heart failure 01-disease-subtype +EFO:0003756 autism spectrum disorder 02-disease-root +EFO:0003757 Asperger syndrome 02-disease-root +EFO:0003758 autism 02-disease-root +EFO:0003759 pervasive developmental disorder - not otherwise specified 01-disease-subtype +EFO:0003760 central nervous system cyst 02-disease-root +EFO:0003761 unipolar depression 02-disease-root +EFO:0003762 vitamin D deficiency 04-non-disease +EFO:0003763 cerebrovascular disorder 03-disease-area +EFO:0003764 transient ischemic attack 01-disease-subtype +EFO:0003765 sign or symptom 04-non-disease +EFO:0003767 inflammatory bowel disease 02-disease-root +EFO:0003768 nicotine dependence 02-disease-root +EFO:0003769 endocrine neoplasm 03-disease-area +EFO:0003770 diabetic retinopathy 02-disease-root +EFO:0003776 coronary artery bypass 04-non-disease +EFO:0003777 heart disease 03-disease-area +EFO:0003778 psoriatic arthritis 02-disease-root +EFO:0003779 Hashimoto's thyroiditis 02-disease-root +EFO:0003780 Behcet's syndrome 01-disease-subtype +EFO:0003781 carotid artery disease 03-disease-area +EFO:0003782 motor neuron disease 03-disease-area +EFO:0003783 progressive bulbar palsy 01-disease-subtype +EFO:0003784 skin pigmentation 04-non-disease +EFO:0003802 refractory anemia 01-disease-subtype +EFO:0003811 refractory anemia with excess blasts 01-disease-subtype +EFO:0003812 refractory anemia with ringed sideroblasts 01-disease-subtype +EFO:0003817 laryngeal neoplasm 03-disease-area +EFO:0003818 lung disease 03-disease-area +EFO:0003819 dental caries 02-disease-root +EFO:0003820 bone neoplasm 03-disease-area +EFO:0003822 hyperemia 04-non-disease +EFO:0003824 eye neoplasm 03-disease-area +EFO:0003825 serous adenocarcinoma 03-disease-area +EFO:0003826 salivary gland neoplasm 03-disease-area +EFO:0003827 pulmonary embolism 02-disease-root +EFO:0003828 spinal cord neoplasm 03-disease-area +EFO:0003830 prostatitis 02-disease-root +EFO:0003832 gallbladder disease 03-disease-area +EFO:0003833 brain neoplasm 03-disease-area +EFO:0003834 cutaneous lupus erythematosus 01-disease-subtype +EFO:0003835 anal neoplasm 03-disease-area +EFO:0003837 calcification 04-non-disease +EFO:0003839 retinopathy 03-disease-area +EFO:0003840 chronic progressive multiple sclerosis 01-disease-subtype +EFO:0003841 thyroid neoplasm 03-disease-area +EFO:0003843 pain 04-non-disease +EFO:0003844 ureteral neoplasm 03-disease-area +EFO:0003846 urethral neoplasm 03-disease-area +EFO:0003847 intellectual disability 04-non-disease +EFO:0003849 palatal neoplasm 02-disease-root +EFO:0003850 adrenal gland neoplasm 03-disease-area +EFO:0003851 meningeal neoplasm 03-disease-area +EFO:0003852 developmental disability 03-disease-area +EFO:0003853 respiratory system neoplasm 03-disease-area +EFO:0003854 postmenopausal osteoporosis 01-disease-subtype +EFO:0003855 intestinal polyp 02-disease-root +EFO:0003856 dissection 04-non-disease +EFO:0003857 arthrogryposis 02-disease-root +EFO:0003859 uterine neoplasm 03-disease-area +EFO:0003860 pancreatic neoplasm 03-disease-area +EFO:0003863 urogenital neoplasm 03-disease-area +EFO:0003865 kidney neoplasm 03-disease-area +EFO:0003866 paranasal sinus neoplasm 03-disease-area +EFO:0003867 rhabdomyolysis 02-disease-root +EFO:0003868 mouth neoplasm 03-disease-area +EFO:0003869 breast neoplasm 03-disease-area +EFO:0003870 brain aneurysm 02-disease-root +EFO:0003871 tongue neoplasm 03-disease-area +EFO:0003872 colitis 02-disease-root +EFO:0003873 parotid neoplasm 03-disease-area +EFO:0003874 flatfoot 02-disease-root +EFO:0003875 peripheral vascular disease 03-disease-area +EFO:0003876 intermittent vascular claudication 02-disease-root +EFO:0003877 sleep apnea 02-disease-root +EFO:0003878 urethritis 01-disease-subtype +EFO:0003880 appendiceal neoplasm 03-disease-area +EFO:0003881 hysterectomy 04-non-disease +EFO:0003882 osteoporosis 02-disease-root +EFO:0003884 chronic kidney disease 02-disease-root +EFO:0003888 attention deficit hyperactivity disorder 02-disease-root +EFO:0003889 functional laterality 04-non-disease +EFO:0003890 drug dependence 03-disease-area +EFO:0003891 biliary tract neoplasm 03-disease-area +EFO:0003892 pulmonary function measurement 04-non-disease +EFO:0003893 ovarian neoplasm 03-disease-area +EFO:0003894 acne 02-disease-root +EFO:0003895 epistaxis 01-disease-subtype +EFO:0003896 left ventricular hypertrophy 04-non-disease +EFO:0003897 stomach neoplasm 03-disease-area +EFO:0003898 ankylosing spondylitis 01-disease-subtype +EFO:0003899 contracture 02-disease-root +EFO:0003900 ciliopathy 03-disease-area +EFO:0003901 dysuria 04-non-disease +EFO:0003902 spinal fracture 01-disease-subtype +EFO:0003906 heart valve prosthesis 04-non-disease +EFO:0003907 deep vein thrombosis 04-non-disease +EFO:0003911 atrial flutter 02-disease-root +EFO:0003912 ankle brachial index 04-non-disease +EFO:0003913 angina pectoris 04-non-disease +EFO:0003914 atherosclerosis 02-disease-root +EFO:0003917 premature birth 04-non-disease +EFO:0003918 obstructive sleep apnea 01-disease-subtype +EFO:0003921 pouchitis 02-disease-root +EFO:0003922 menopause 04-non-disease +EFO:0003923 bone density 04-non-disease +EFO:0003924 hair color 04-non-disease +EFO:0003925 cognition 04-non-disease +EFO:0003926 neuropsychological test 04-non-disease +EFO:0003928 necrotizing enterocolitis 01-disease-subtype +EFO:0003929 relapsing-remitting multiple sclerosis 01-disease-subtype +EFO:0003930 menarche 04-non-disease +EFO:0003931 bone fracture 03-disease-area +EFO:0003932 bacterial vaginosis 01-disease-subtype +EFO:0003938 aphthous ulcer 02-disease-root +EFO:0003939 energy intake 04-non-disease +EFO:0003940 physical activity 04-non-disease +EFO:0003942 Xenograft 04-non-disease +EFO:0003943 humerus fracture 01-disease-subtype +EFO:0003944 tibia fracture 02-disease-root +EFO:0003948 gastroesophageal reflux disease 02-disease-root +EFO:0003949 eye color 04-non-disease +EFO:0003950 ulna fracture 01-disease-subtype +EFO:0003951 percutaneous transluminal coronary angioplasty 04-non-disease +EFO:0003952 fever of unknown origin 04-non-disease +EFO:0003953 circumcision 04-non-disease +EFO:0003955 bacterial sexually transmitted disease 03-disease-area +EFO:0003956 seasonal allergic rhinitis 01-disease-subtype +EFO:0003957 radius fracture 01-disease-subtype +EFO:0003958 sunburn 01-disease-subtype +EFO:0003959 cleft lip 04-non-disease +EFO:0003960 computed tomography 04-non-disease +EFO:0003962 pulsed doppler echocardiography 04-non-disease +EFO:0003963 freckles 04-non-disease +EFO:0003964 hip fracture 02-disease-root +EFO:0003965 very low birth weight infant 04-non-disease +EFO:0003966 eye disease 03-disease-area +EFO:0003967 vascular sarcoma 02-disease-root +EFO:0003968 angiosarcoma 01-disease-subtype +EFO:0004125 growth hormone-secreting pituitary adenoma 02-disease-root +EFO:0004126 Adie syndrome 02-disease-root +EFO:0004127 hyperthyroxinemia 02-disease-root +EFO:0004128 hereditary nephritis 03-disease-area +EFO:0004129 familial amyloid neuropathy 01-disease-subtype +EFO:0004134 tumor size 04-non-disease +EFO:0004138 bundle branch block 02-disease-root +EFO:0004142 colorectal neoplasm 03-disease-area +EFO:0004143 carpal tunnel syndrome 02-disease-root +EFO:0004144 acatalasia 01-disease-subtype +EFO:0004145 myopathy 03-disease-area +EFO:0004149 neuropathy 03-disease-area +EFO:0004152 chorea 02-disease-root +EFO:0004190 open-angle glaucoma 01-disease-subtype +EFO:0004191 androgenetic alopecia 01-disease-subtype +EFO:0004192 alopecia areata 02-disease-root +EFO:0004193 basal cell carcinoma 02-disease-root +EFO:0004194 IGA glomerulonephritis 02-disease-root +EFO:0004196 viral human hepatitis infection 03-disease-area +EFO:0004197 hepatitis B virus infection 02-disease-root +EFO:0004198 skin neoplasm 03-disease-area +EFO:0004199 dysplastic nevus 02-disease-root +EFO:0004207 pathological myopia 04-non-disease +EFO:0004208 Vitiligo 02-disease-root +EFO:0004209 hypospadias 02-disease-root +EFO:0004210 gallstones 02-disease-root +EFO:0004211 Hypertriglyceridemia 02-disease-root +EFO:0004212 Keloid 01-disease-subtype +EFO:0004213 otosclerosis 02-disease-root +EFO:0004214 Abdominal Aortic Aneurysm 01-disease-subtype +EFO:0004215 anorexia nervosa 02-disease-root +EFO:0004216 conduct disorder 02-disease-root +EFO:0004220 chronic hepatitis C virus infection 01-disease-subtype +EFO:0004224 Coronary Restenosis 01-disease-subtype +EFO:0004225 Coronary Vasospasm 01-disease-subtype +EFO:0004226 Creutzfeldt Jacob Disease 02-disease-root +EFO:0004227 Dengue Hemorrhagic Fever 01-disease-subtype +EFO:0004228 drug-induced liver injury 02-disease-root +EFO:0004229 Dupuytren Contracture 01-disease-subtype +EFO:0004230 endometrial neoplasm 03-disease-area +EFO:0004232 eosinophilic esophagitis 02-disease-root +EFO:0004233 leukopenia 04-non-disease +EFO:0004234 erectile dysfunction 01-disease-subtype +EFO:0004235 exfoliation syndrome 01-disease-subtype +EFO:0004236 focal segmental glomerulosclerosis 02-disease-root +EFO:0004237 Graves disease 01-disease-subtype +EFO:0004238 hearing loss 03-disease-area +EFO:0004239 chronic hepatitis B virus infection 01-disease-subtype +EFO:0004240 heroin dependence 02-disease-root +EFO:0004242 obsessive-compulsive disorder 02-disease-root +EFO:0004243 carcinoid tumor 03-disease-area +EFO:0004244 interstitial lung disease 03-disease-area +EFO:0004246 mucocutaneous lymph node syndrome 01-disease-subtype +EFO:0004247 mood disorder 03-disease-area +EFO:0004248 male infertility 03-disease-area +EFO:0004249 meningococcal infection 02-disease-root +EFO:0004251 myeloproliferative disorder 03-disease-area +EFO:0004252 nasopharyngeal neoplasm 02-disease-root +EFO:0004253 nephrolithiasis 02-disease-root +EFO:0004254 membranous glomerulonephritis 01-disease-subtype +EFO:0004255 nephrotic syndrome 02-disease-root +EFO:0004256 neuromyelitis optica 02-disease-root +EFO:0004257 neurotic disorder 02-disease-root +EFO:0004259 osteonecrosis 03-disease-area +EFO:0004260 bone disease 03-disease-area +EFO:0004261 osteitis deformans 02-disease-root +EFO:0004262 panic disorder 02-disease-root +EFO:0004263 partial epilepsy 01-disease-subtype +EFO:0004264 vascular disease 03-disease-area +EFO:0004265 peripheral arterial disease 02-disease-root +EFO:0004266 primary ovarian insufficiency 02-disease-root +EFO:0004267 biliary liver cirrhosis 01-disease-subtype +EFO:0004268 sclerosing cholangitis 01-disease-subtype +EFO:0004269 cardiac arrhythmia 02-disease-root +EFO:0004270 restless legs syndrome 02-disease-root +EFO:0004272 anemia (phenotype) 04-non-disease +EFO:0004273 scoliosis 02-disease-root +EFO:0004274 gout 02-disease-root +EFO:0004276 Stevens-Johnson syndrome 01-disease-subtype +EFO:0004277 brain infarction 03-disease-area +EFO:0004278 sudden cardiac arrest 01-disease-subtype +EFO:0004279 suntan 04-non-disease +EFO:0004280 movement disorder 03-disease-area +EFO:0004281 testicular neoplasm 03-disease-area +EFO:0004282 thoracic aortic aneurysm 01-disease-subtype +EFO:0004283 goiter 03-disease-area +EFO:0004284 upper aerodigestive tract neoplasm 02-disease-root +EFO:0004285 albuminuria 04-non-disease +EFO:0004286 venous thromboembolism 02-disease-root +EFO:0004287 ventricular fibrillation 02-disease-root +EFO:0004288 colonic neoplasm 03-disease-area +EFO:0004289 lymphoid leukemia 03-disease-area +EFO:0004297 clinical laboratory measurement 04-non-disease +EFO:0004298 cardiovascular measurement 04-non-disease +EFO:0004299 life expectancy 04-non-disease +EFO:0004300 longevity 04-non-disease +EFO:0004301 blood viscosity 04-non-disease +EFO:0004302 anthropometric measurement 04-non-disease +EFO:0004303 vital signs 04-non-disease +EFO:0004304 blood sedimentation 04-non-disease +EFO:0004305 erythrocyte count 04-non-disease +EFO:0004306 erythrocyte indices 04-non-disease +EFO:0004307 glucose tolerance test 04-non-disease +EFO:0004308 leukocyte count 04-non-disease +EFO:0004309 platelet count 04-non-disease +EFO:0004310 partial thromboplastin time 04-non-disease +EFO:0004311 heart function measurement 04-non-disease +EFO:0004312 vital capacity 04-non-disease +EFO:0004313 maximal midexpiratory flow rate 04-non-disease +EFO:0004314 forced expiratory volume 04-non-disease +EFO:0004315 drinking behavior 04-non-disease +EFO:0004316 exploratory behavior 04-non-disease +EFO:0004317 extraversion 04-non-disease +EFO:0004318 smoking behavior 04-non-disease +EFO:0004319 smoking cessation 04-non-disease +EFO:0004320 suicidal ideation 04-non-disease +EFO:0004321 attempted suicide 04-non-disease +EFO:0004323 mental process 04-non-disease +EFO:0004324 body weights and measures 04-non-disease +EFO:0004325 blood pressure 04-non-disease +EFO:0004326 heart rate 04-non-disease +EFO:0004327 electrocardiography 04-non-disease +EFO:0004328 exercise test 04-non-disease +EFO:0004329 alcohol drinking 04-non-disease +EFO:0004330 coffee consumption 04-non-disease +EFO:0004333 episodic memory 04-non-disease +EFO:0004334 intuition 04-non-disease +EFO:0004335 short-term memory 04-non-disease +EFO:0004336 speech perception 04-non-disease +EFO:0004337 intelligence 04-non-disease +EFO:0004338 body weight 04-non-disease +EFO:0004339 body height 04-non-disease +EFO:0004340 body mass index 04-non-disease +EFO:0004341 body fat distribution 04-non-disease +EFO:0004342 waist circumference 04-non-disease +EFO:0004343 waist-hip ratio 04-non-disease +EFO:0004344 birth weight 04-non-disease +EFO:0004345 corneal topography 04-non-disease +EFO:0004346 neuroimaging measurement 04-non-disease +EFO:0004347 addictive behaviour 04-non-disease +EFO:0004348 hematocrit 04-non-disease +EFO:0004350 reasoning 04-non-disease +EFO:0004351 resting heart rate 04-non-disease +EFO:0004352 mortality 04-non-disease +EFO:0004354 circadian rhythm 04-non-disease +EFO:0004357 electroencephalogram measurement 04-non-disease +EFO:0004358 event-related brain oscillation 04-non-disease +EFO:0004362 psychomotor performance 04-non-disease +EFO:0004363 information processing speed 04-non-disease +EFO:0004364 neurobehavioral manifestations 04-non-disease +EFO:0004425 initial time point 04-non-disease +EFO:0004458 C-reactive protein measurement 04-non-disease +EFO:0004459 ferritin measurement 04-non-disease +EFO:0004460 soluble transferrin receptor measurement 04-non-disease +EFO:0004461 iron biomarker measurement 04-non-disease +EFO:0004462 PR interval 04-non-disease +EFO:0004463 angiotensin converting enzyme activity measurement 04-non-disease +EFO:0004464 brain measurement 04-non-disease +EFO:0004465 fasting blood glucose measurement 04-non-disease +EFO:0004466 fasting blood insulin measurement 04-non-disease +EFO:0004467 insulin measurement 04-non-disease +EFO:0004468 glucose measurement 04-non-disease +EFO:0004469 HOMA-B 04-non-disease +EFO:0004471 insulin sensitivity measurement 04-non-disease +EFO:0004501 HOMA-IR 04-non-disease +EFO:0004502 adiponectin measurement 04-non-disease +EFO:0004503 hematological measurement 04-non-disease +EFO:0004504 serum hepcidin measurement 04-non-disease +EFO:0004505 telomere length 04-non-disease +EFO:0004506 monocyte early outgrowth colony forming unit 04-non-disease +EFO:0004507 D dimer measurement 04-non-disease +EFO:0004508 spine bone size 04-non-disease +EFO:0004509 hemoglobin measurement 04-non-disease +EFO:0004510 HPV seropositivity 04-non-disease +EFO:0004511 femoral neck bone geometry 04-non-disease +EFO:0004512 bone measurement 04-non-disease +EFO:0004513 bone geometry 04-non-disease +EFO:0004514 bone quantitative ultrasound measurement 04-non-disease +EFO:0004515 muscle measurement 04-non-disease +EFO:0004516 bone fracture related measurement 04-non-disease +EFO:0004517 arterial stiffness measurement 04-non-disease +EFO:0004518 creatinine measurement 04-non-disease +EFO:0004519 soluble P-selectin measurement 04-non-disease +EFO:0004520 ICAM-1 measurement 04-non-disease +EFO:0004522 adhesion molecule measurement 04-non-disease +EFO:0004526 mean corpuscular volume 04-non-disease +EFO:0004527 mean corpuscular hemoglobin 04-non-disease +EFO:0004528 mean corpuscular hemoglobin concentration 04-non-disease +EFO:0004529 lipid measurement 04-non-disease +EFO:0004530 triglyceride measurement 04-non-disease +EFO:0004531 urate measurement 04-non-disease +EFO:0004532 serum gamma-glutamyl transferase measurement 04-non-disease +EFO:0004533 alkaline phosphatase measurement 04-non-disease +EFO:0004534 creatine kinase measurement 04-non-disease +EFO:0004535 serum albumin measurement 04-non-disease +EFO:0004536 total blood protein measurement 04-non-disease +EFO:0004537 neonatal systemic lupus erythematosus 01-disease-subtype +EFO:0004540 chronic fatigue syndrome 02-disease-root +EFO:0004541 HbA1c measurement 04-non-disease +EFO:0004550 amygdala reactivity measurement 04-non-disease +EFO:0004554 genomic measurement 04-non-disease +EFO:0004555 glycoprotein measurement 04-non-disease +EFO:0004556 antibody measurement 04-non-disease +EFO:0004557 population measurement 04-non-disease +EFO:0004562 cryptorchidism 02-disease-root +EFO:0004565 serum IgG measurement 04-non-disease +EFO:0004566 body weight gain 04-non-disease +EFO:0004567 antipsychotic drug related weight gain 04-non-disease +EFO:0004568 serum non-albumin protein measurement 04-non-disease +EFO:0004569 brain serotonin transporter measurement 04-non-disease +EFO:0004570 bilirubin measurement 04-non-disease +EFO:0004571 butyrylcholinesterase measurement 04-non-disease +EFO:0004572 C4BP measurement 04-non-disease +EFO:0004573 chemerin measurement 04-non-disease +EFO:0004574 total cholesterol measurement 04-non-disease +EFO:0004575 e-selectin measurement 04-non-disease +EFO:0004576 fetal hemoglobin measurement 04-non-disease +EFO:0004577 infant head circumference 04-non-disease +EFO:0004578 homocysteine measurement 04-non-disease +EFO:0004579 serum IgE measurement 04-non-disease +EFO:0004581 interleukin 18 measurement 04-non-disease +EFO:0004582 liver enzyme measurement 04-non-disease +EFO:0004584 mean platelet volume 04-non-disease +EFO:0004585 naphthyl-keratin adduct measurement 04-non-disease +EFO:0004586 complete blood cell count 04-non-disease +EFO:0004587 lymphocyte count 04-non-disease +EFO:0004589 brachial circumference 04-non-disease +EFO:0004593 gestational diabetes 01-disease-subtype +EFO:0004594 childhood eosinophilic esophagitis 01-disease-subtype +EFO:0004595 HIV mother to child transmission 04-non-disease +EFO:0004596 diabetes mellitus type 2 associated cataract 01-disease-subtype +EFO:0004599 acute graft vs. host disease 01-disease-subtype +EFO:0004606 gallbladder neoplasm 03-disease-area +EFO:0004607 duodenal ulcer 02-disease-root +EFO:0004608 cystic fibrosis associated meconium ileus 01-disease-subtype +EFO:0004609 treatment refractory schizophrenia 01-disease-subtype +EFO:0004610 acute lung injury 02-disease-root +EFO:0004611 low density lipoprotein cholesterol measurement 04-non-disease +EFO:0004612 high density lipoprotein cholesterol measurement 04-non-disease +EFO:0004614 apolipoprotein A 1 measurement 04-non-disease +EFO:0004615 apolipoprotein B measurement 04-non-disease +EFO:0004616 osteoarthritis, knee 01-disease-subtype +EFO:0004617 cystatin C measurement 04-non-disease +EFO:0004618 vitamin K measurement 04-non-disease +EFO:0004619 factor VII measurement 04-non-disease +EFO:0004620 vitamin B12 measurement 04-non-disease +EFO:0004621 vitamin B6 measurement 04-non-disease +EFO:0004622 sphingolipid measurement 04-non-disease +EFO:0004623 fibrinogen measurement 04-non-disease +EFO:0004624 prostate specific antigen measurement 04-non-disease +EFO:0004625 progranulin measurement 04-non-disease +EFO:0004626 IGFBP-3 measurement 04-non-disease +EFO:0004627 IGF-1 measurement 04-non-disease +EFO:0004628 insulin like growth factor measurement 04-non-disease +EFO:0004629 von Willebrand factor measurement 04-non-disease +EFO:0004630 factor VIII measurement 04-non-disease +EFO:0004631 vitamin D measurement 04-non-disease +EFO:0004632 nevus count 04-non-disease +EFO:0004633 protein C measurement 04-non-disease +EFO:0004634 coagulation factor measurement 04-non-disease +EFO:0004635 leptin receptor measurement 04-non-disease +EFO:0004637 protein S measurement 04-non-disease +EFO:0004639 phospholipid measurement 04-non-disease +EFO:0004640 haptoglobin measurement 04-non-disease +EFO:0004641 white matter integrity 04-non-disease +EFO:0004642 cortisol secretion measurement 04-non-disease +EFO:0004644 TPE interval measurement 04-non-disease +EFO:0004645 response to vaccine 04-non-disease +EFO:0004647 response to platinum based chemotherapy 04-non-disease +EFO:0004653 response to TNF antagonist 04-non-disease +EFO:0004670 beta-amyloid 1-42 measurement 04-non-disease +EFO:0004682 QT interval 04-non-disease +EFO:0004683 wet macular degeneration 01-disease-subtype +EFO:0004684 tumor necrosis factor-alpha measurement 04-non-disease +EFO:0004685 hip geometry 04-non-disease +EFO:0004686 non-compaction cardiomyopathy 01-disease-subtype +EFO:0004694 factor XI measurement 04-non-disease +EFO:0004695 intraocular pressure measurement 04-non-disease +EFO:0004696 sex hormone-binding globulin measurement 04-non-disease +EFO:0004697 estradiol measurement 04-non-disease +EFO:0004698 insomnia 02-disease-root +EFO:0004699 gambling behaviour 04-non-disease +EFO:0004701 methamphetamine dependence 02-disease-root +EFO:0004703 age at menarche 04-non-disease +EFO:0004704 age at menopause 04-non-disease +EFO:0004705 hypothyroidism 03-disease-area +EFO:0004707 infantile hypertrophic pyloric stenosis 01-disease-subtype +EFO:0004708 nodular sclerosis Hodgkin lymphoma 01-disease-subtype +EFO:0004710 pelvic organ prolapse 02-disease-root +EFO:0004711 elephantiasis 02-disease-root +EFO:0004712 podoconiosis 01-disease-subtype +EFO:0004713 FEV/FEC ratio 04-non-disease +EFO:0004714 sexual dysfunction 04-non-disease +EFO:0004715 MRI defined brain infarct 02-disease-root +EFO:0004718 vascular dementia 02-disease-root +EFO:0004719 pemphigus vulgaris 01-disease-subtype +EFO:0004720 prion disease 03-disease-area +EFO:0004723 coronary artery calcification 04-non-disease +EFO:0004724 carotid-femoral pulse wave velocity 04-non-disease +EFO:0004725 metabolite measurement 04-non-disease +EFO:0004728 serum amyloid A protein measurement 04-non-disease +EFO:0004729 vitamin measurement 04-non-disease +EFO:0004730 hormone measurement 04-non-disease +EFO:0004731 eye measurement 04-non-disease +EFO:0004732 lipoprotein measurement 04-non-disease +EFO:0004733 anti-cyclic citrullinated peptide antibody measurement 04-non-disease +EFO:0004735 serum alanine aminotransferase measurement 04-non-disease +EFO:0004736 aspartate aminotransferase measurement 04-non-disease +EFO:0004737 carotenoid measurement 04-non-disease +EFO:0004738 tocopherol measurement 04-non-disease +EFO:0004739 circulating cell free DNA measurement 04-non-disease +EFO:0004741 blood urea nitrogen measurement 04-non-disease +EFO:0004742 renal system measurement 04-non-disease +EFO:0004743 facial morphology 04-non-disease +EFO:0004744 matrix metalloproteinase measurement 04-non-disease +EFO:0004745 NT-proBNP measurement 04-non-disease +EFO:0004746 lipoprotein-associated phospholipase A(2) measurement 04-non-disease +EFO:0004747 protein measurement 04-non-disease +EFO:0004748 thyroid stimulating hormone measurement 04-non-disease +EFO:0004749 CCL2 measurement 04-non-disease +EFO:0004750 interleukin 10 measurement 04-non-disease +EFO:0004751 CCL4 measurement 04-non-disease +EFO:0004752 parathyroid hormone measurement 04-non-disease +EFO:0004753 interleukin 12 measurement 04-non-disease +EFO:0004754 interleukin 1 receptor antagonist measurement 04-non-disease +EFO:0004760 t-tau measurement 04-non-disease +EFO:0004761 uric acid measurement 04-non-disease +EFO:0004762 vascular endothelial growth factor measurement 04-non-disease +EFO:0004763 p-tau measurement 04-non-disease +EFO:0004764 adipose tissue measurement 04-non-disease +EFO:0004765 visceral adipose tissue measurement 04-non-disease +EFO:0004766 subcutaneous adipose tissue measurement 04-non-disease +EFO:0004767 visceral:subcutaneous adipose tissue ratio 04-non-disease +EFO:0004768 follicle stimulating hormone measurement 04-non-disease +EFO:0004769 anti-Mullerian hormone measurement 04-non-disease +EFO:0004770 ovarian reserve 04-non-disease +EFO:0004771 visual cortical surface area measurement 04-non-disease +EFO:0004772 early onset hypertension 01-disease-subtype +EFO:0004774 chewing tobacco behavior 04-non-disease +EFO:0004775 toxic epidermal necrolysis 02-disease-root +EFO:0004776 alcohol and nicotine codependence 02-disease-root +EFO:0004777 alcohol withdrawal 01-disease-subtype +EFO:0004779 CHAOS measure 04-non-disease +EFO:0004780 DSM-IV-based social scale 04-non-disease +EFO:0004781 DSM-IV-based non-social scale 04-non-disease +EFO:0004782 behavior or behavioral disorder measurement 04-non-disease +EFO:0004783 TEMPS-A questionnaire 04-non-disease +EFO:0004784 self reported educational attainment 04-non-disease +EFO:0004785 South Texas Assessment of Neurocognition 04-non-disease +EFO:0004786 Mini-International Neuropsychiatric Interview 04-non-disease +EFO:0004789 atrial natriuretic factor measurement 04-non-disease +EFO:0004790 CD40 ligand measurement 04-non-disease +EFO:0004791 tissue plasminogen activator measurement 04-non-disease +EFO:0004792 plasminogen activator inhibitor 1 measurement 04-non-disease +EFO:0004795 skin sensitivity to sun 02-disease-root +EFO:0004798 copy number variation 04-non-disease +EFO:0004799 cholelithiasis 02-disease-root +EFO:0004800 frontal theta oscillation measurement 04-non-disease +EFO:0004802 family size 04-non-disease +EFO:0004803 male fertility 04-non-disease +EFO:0004804 birth rate 04-non-disease +EFO:0004805 formal thought disorder 04-non-disease +EFO:0004806 asbestos exposure measurement 04-non-disease +EFO:0004807 short sleep 04-non-disease +EFO:0004808 L lactate dehydrogenase measurement 04-non-disease +EFO:0004809 fructose-bisphosphate aldolase measurement 04-non-disease +EFO:0004810 interleukin-6 measurement 04-non-disease +EFO:0004811 interleukin-8 measurement 04-non-disease +EFO:0004812 interleukin-1 beta measurement 04-non-disease +EFO:0004813 alpha globulin measurement 04-non-disease +EFO:0004814 interleukin-6 receptor measurement 04-non-disease +EFO:0004815 alpha macroglobulin measurement 04-non-disease +EFO:0004818 transforming growth factor beta measurement 04-non-disease +EFO:0004819 resistin measurement 04-non-disease +EFO:0004820 sex ratio 04-non-disease +EFO:0004823 perception of facial expression 04-non-disease +EFO:0004825 temperament and character inventory 04-non-disease +EFO:0004826 anti-neutrophil antibody associated vasculitis 02-disease-root +EFO:0004828 genetic variation 04-non-disease +EFO:0004829 response to irinotecan 04-non-disease +EFO:0004830 caudate nucleus volume 04-non-disease +EFO:0004831 RR interval 04-non-disease +EFO:0004832 optic disc size measurement 04-non-disease +EFO:0004833 neutrophil count 04-non-disease +EFO:0004838 calcium measurement 04-non-disease +EFO:0004839 CD4:CD8 lymphocyte ratio 04-non-disease +EFO:0004840 cortical thickness 04-non-disease +EFO:0004841 digit length ratio 04-non-disease +EFO:0004842 eosinophil count 04-non-disease +EFO:0004843 vitamin B measurement 04-non-disease +EFO:0004844 hip bone size 04-non-disease +EFO:0004845 magnesium measurement 04-non-disease +EFO:0004846 serotonin measurement 04-non-disease +EFO:0004847 age at onset 04-non-disease +EFO:0004857 vitamin A measurement 04-non-disease +EFO:0004859 abdominal aortic artery calcification 04-non-disease +EFO:0004860 common carotid intimal medial thickness 04-non-disease +EFO:0004861 phosphorus measurement 04-non-disease +EFO:0004862 phytosterol measurement 04-non-disease +EFO:0004863 recombination rate 04-non-disease +EFO:0004864 renal sinus adipose tissue measurement 04-non-disease +EFO:0004865 thyroid volume 04-non-disease +EFO:0004866 autoantibody measurement 04-non-disease +EFO:0004867 vitamin E measurement 04-non-disease +EFO:0004868 volumetric brain MRI 04-non-disease +EFO:0004869 YKL40 measurement 04-non-disease +EFO:0004870 sleep measurement 04-non-disease +EFO:0004872 inflammatory biomarker measurement 04-non-disease +EFO:0004873 cytokine measurement 04-non-disease +EFO:0004874 memory performance 04-non-disease +EFO:0004875 mathematical ability 04-non-disease +EFO:0004880 urinary arsenic measurement 04-non-disease +EFO:0004881 asparaginase hypersensitivity 04-non-disease +EFO:0004884 breast size 04-non-disease +EFO:0004885 early cardiac repolarization measurement 04-non-disease +EFO:0004886 intracranial volume measurement 04-non-disease +EFO:0004887 maximal oxygen uptake measurement 04-non-disease +EFO:0004888 post operative nausea and vomiting 04-non-disease +EFO:0004889 postoperative ventricular dysfunction 01-disease-subtype +EFO:0004890 anti-social behavior 04-non-disease +EFO:0004891 callous character 04-non-disease +EFO:0004893 testicular dysgenesis syndrome 01-disease-subtype +EFO:0004895 Tourette syndrome 02-disease-root +EFO:0004906 lymph node metastatic carcinoma 01-disease-subtype +EFO:0004908 testosterone measurement 04-non-disease +EFO:0004909 dihydrotestosterone measurement 04-non-disease +EFO:0004910 CYP3A4 activity 04-non-disease +EFO:0004911 familial hypercholesterolemia 02-disease-root +EFO:0004912 serum IgA measurement 04-non-disease +EFO:0004913 lentiform nucleus measurement 04-non-disease +EFO:0004914 facial neural processing 04-non-disease +EFO:0004915 vaspin measurement 04-non-disease +EFO:0004918 age at diagnosis 04-non-disease +EFO:0004919 metastasis free survival 04-non-disease +EFO:0004920 progression free survival 04-non-disease +EFO:0004949 clinical temporal measurement 04-non-disease +EFO:0004950 date of birth 04-non-disease +EFO:0004951 alive at endpoint 04-non-disease +EFO:0004952 disease recurrence 04-non-disease +EFO:0004953 date of diagnosis 04-non-disease +EFO:0004955 Breslow thickness 04-non-disease +EFO:0004972 somatic genotype 04-non-disease +EFO:0004973 germline genotype 04-non-disease +EFO:0004979 comprehensive strength index 04-non-disease +EFO:0004980 appendicular lean mass 04-non-disease +EFO:0004983 complement C3 measurement 04-non-disease +EFO:0004984 complement C4 measurement 04-non-disease +EFO:0004985 platelet reactivity measurement 04-non-disease +EFO:0004986 embryonal carcinoma 01-disease-subtype +EFO:0004991 Myasthenia gravis 02-disease-root +EFO:0004992 Otitis media 03-disease-area +EFO:0004993 serum IgM measurement 04-non-disease +EFO:0004994 lumbar disc degeneration 02-disease-root +EFO:0004995 lean body mass 04-non-disease +EFO:0004996 type 1 diabetes nephropathy 01-disease-subtype +EFO:0004997 type 2 diabetes nephropathy 01-disease-subtype +EFO:0004998 carbohydrate measurement 04-non-disease +EFO:0004999 N-glycan measurement 04-non-disease +EFO:0005000 leptin measurement 04-non-disease +EFO:0005001 phenylalanine measurement 04-non-disease +EFO:0005002 lysine measurement 04-non-disease +EFO:0005020 collection latitude 04-non-disease +EFO:0005021 collection longitude 04-non-disease +EFO:0005035 hippocampal volume 04-non-disease +EFO:0005036 platelet measurement 04-non-disease +EFO:0005037 aortic root size 04-non-disease +EFO:0005038 hair morphology 04-non-disease +EFO:0005039 hippocampal atrophy 01-disease-subtype +EFO:0005043 cardiac troponin T measurement 04-non-disease +EFO:0005044 Leishmaniasis 02-disease-root +EFO:0005045 visceral Leishmaniasis 02-disease-root +EFO:0005046 cutaneous Leishmaniasis 01-disease-subtype +EFO:0005047 erythrocyte measurement 04-non-disease +EFO:0005052 nervous system measurement 04-non-disease +EFO:0005053 internal carotid intimal medial thickness 04-non-disease +EFO:0005054 QRS complex 04-non-disease +EFO:0005055 QRS duration 04-non-disease +EFO:0005056 age at death 04-non-disease +EFO:0005057 myoglobin measurement 04-non-disease +EFO:0005058 tyrosine measurement 04-non-disease +EFO:0005059 acylcarnitine measurement 04-non-disease +EFO:0005080 CC16 measurement 04-non-disease +EFO:0005081 surfactant protein D measurement 04-non-disease +EFO:0005088 testicular carcinoma 02-disease-root +EFO:0005089 whole-brain volume 04-non-disease +EFO:0005090 basophil count 04-non-disease +EFO:0005091 monocyte count 04-non-disease +EFO:0005092 entorhinal cortical volume 04-non-disease +EFO:0005093 hip circumference 04-non-disease +EFO:0005094 P wave duration 04-non-disease +EFO:0005095 PR segment 04-non-disease +EFO:0005105 lipid or lipoprotein measurement 04-non-disease +EFO:0005106 body composition measurement 04-non-disease +EFO:0005108 arm span 04-non-disease +EFO:0005109 energy expenditure 04-non-disease +EFO:0005110 fatty acid measurement 04-non-disease +EFO:0005111 folic acid measurement 04-non-disease +EFO:0005112 gestational age 04-non-disease +EFO:0005114 head circumference 04-non-disease +EFO:0005115 metabolic rate measurement 04-non-disease +EFO:0005116 urinary metabolite measurement 04-non-disease +EFO:0005117 CCL5 measurement 04-non-disease +EFO:0005118 IGFBP-1 measurement 04-non-disease +EFO:0005119 antioxidant measurement 04-non-disease +EFO:0005126 arylesterase enzyme measurement 04-non-disease +EFO:0005127 cancer biomarker measurement 04-non-disease +EFO:0005128 albumin:globulin ratio measurement 04-non-disease +EFO:0005129 hepatitis C induced liver cirrhosis 01-disease-subtype +EFO:0005130 thyroxine measurement 04-non-disease +EFO:0005131 HVA measurement 04-non-disease +EFO:0005132 5-HIAA measurement 04-non-disease +EFO:0005133 MHPG measurement 04-non-disease +EFO:0005134 amino acid measurement 04-non-disease +EFO:0005137 conduction system disorder 03-disease-area +EFO:0005138 acquired long QT syndrome 02-disease-root +EFO:0005139 serum ceruloplasmin measurement 04-non-disease +EFO:0005140 autoimmune disease 03-disease-area +EFO:0005168 wild type genotype 04-non-disease +EFO:0005187 C-peptide measurement 04-non-disease +EFO:0005188 CCL11 measurement 04-non-disease +EFO:0005189 respiratory quotient 04-non-disease +EFO:0005190 urinary nitrogen measurement 04-non-disease +EFO:0005191 waist height ratio 04-non-disease +EFO:0005192 red blood cell distribution width 04-non-disease +EFO:0005193 serum IgG glycosylation measurement 04-non-disease +EFO:0005194 amyloid-beta measurement 04-non-disease +EFO:0005195 response to cholinesterase inhibitor 04-non-disease +EFO:0005196 vasoactive peptide measurement 04-non-disease +EFO:0005197 beta-2 microglobulin measurement 04-non-disease +EFO:0005198 transplant outcome measurement 04-non-disease +EFO:0005199 renal transplant outcome measurement 04-non-disease +EFO:0005200 antiphospholipid antibody measurement 04-non-disease +EFO:0005201 height growth measurement 04-non-disease +EFO:0005202 response to hydrochlorothiazide 04-non-disease +EFO:0005203 eating disorder 03-disease-area +EFO:0005204 bulimia nervosa 02-disease-root +EFO:0005205 response to dabigatran etexilate 04-non-disease +EFO:0005206 oligoclonal band measurement 04-non-disease +EFO:0005207 congenital heart disease 03-disease-area +EFO:0005208 glomerular filtration rate 04-non-disease +EFO:0005210 brain connectivity measurement 04-non-disease +EFO:0005211 aspirin hydrolysis measurement 04-non-disease +EFO:0005213 central corneal thickness 04-non-disease +EFO:0005220 pulmonary neuroendocrine tumor 03-disease-area +EFO:0005221 cholangiocarcinoma 02-disease-root +EFO:0005222 avian influenza 01-disease-subtype +EFO:0005223 acute stress reaction 02-disease-root +EFO:0005224 Q fever 02-disease-root +EFO:0005225 human african trypanosomiasis 01-disease-subtype +EFO:0005226 swine influenza 01-disease-subtype +EFO:0005229 reading 04-non-disease +EFO:0005230 anxiety 04-non-disease +EFO:0005232 endometrium adenocarcinoma 01-disease-subtype +EFO:0005235 primitive neuroectodermal tumor 03-disease-area +EFO:0005239 aortic valve calcification 01-disease-subtype +EFO:0005240 rhegmatogenous retinal detachment 01-disease-subtype +EFO:0005241 employment status 04-non-disease +EFO:0005242 methamphetamine-induced psychosis 02-disease-root +EFO:0005243 myeloperoxidase measurement 04-non-disease +EFO:0005244 gastric bypass 04-non-disease +EFO:0005245 body weight loss 04-non-disease +EFO:0005246 hypersomnia 03-disease-area +EFO:0005247 anti-Helicobacter pylori serum IgG measurement 04-non-disease +EFO:0005250 occupation-related stress disorder 02-disease-root +EFO:0005251 hypotension 02-disease-root +EFO:0005252 orthostatic hypotension 01-disease-subtype +EFO:0005253 postprandial hypotension 01-disease-subtype +EFO:0005254 neurally mediated hypotension 01-disease-subtype +EFO:0005257 response to anthracycline-based chemotherapy 04-non-disease +EFO:0005260 response to antimicrotubule agent 04-non-disease +EFO:0005262 mitral annular calcification 04-non-disease +EFO:0005266 serum selenium measurement 04-non-disease +EFO:0005267 serum copper measurement 04-non-disease +EFO:0005268 serum zinc measurement 04-non-disease +EFO:0005269 congenital heart malformation 03-disease-area +EFO:0005271 sleep duration 04-non-disease +EFO:0005272 sleep quality 04-non-disease +EFO:0005273 sleep depth 04-non-disease +EFO:0005274 sleep time 04-non-disease +EFO:0005275 dihydroxy docosatrienoic acid measurement 04-non-disease +EFO:0005276 hydroxy-leucine measurement 04-non-disease +EFO:0005278 cardiovascular disease biomarker measurement 04-non-disease +EFO:0005279 temporomandibular joint disorder 02-disease-root +EFO:0005280 sleep latency 04-non-disease +EFO:0005287 reticulum cell sarcoma 01-disease-subtype +EFO:0005288 non-small cell lung adenocarcinoma 01-disease-subtype +EFO:0005297 Granulomatosis with Polyangiitis 01-disease-subtype +EFO:0005298 allergic sensitization measurement 04-non-disease +EFO:0005299 non-word reading 04-non-disease +EFO:0005300 word reading 04-non-disease +EFO:0005301 reading and spelling ability 04-non-disease +EFO:0005303 sudden infant death syndrome 02-disease-root +EFO:0005304 atrial conduction disease 02-disease-root +EFO:0005305 atrioventricular node disease 02-disease-root +EFO:0005306 ventricular tachycardia 01-disease-subtype +EFO:0005307 torsades de pointes 01-disease-subtype +EFO:0005308 atrial tachycardia 03-disease-area +EFO:0005318 axial length measurement 04-non-disease +EFO:0005319 contact dermatitis 02-disease-root +EFO:0005320 contact dermatitis due to nickel 01-disease-subtype +EFO:0005321 molar-incisor hypomineralization 02-disease-root +EFO:0005322 callous-unemotional behaviour 04-non-disease +EFO:0005323 post-operative sign or symptom 04-non-disease +EFO:0005324 post-operative sensory disturbance 04-non-disease +EFO:0005325 response to angiotensin-converting enzyme inhibitor 04-non-disease +EFO:0005400 chemotherapy-induced alopecia 01-disease-subtype +EFO:0005401 response to high sodium diet 04-non-disease +EFO:0005402 response to low sodium diet 04-non-disease +EFO:0005403 response to dietary potassium supplementation 04-non-disease +EFO:0005404 response to cold pressor test 04-non-disease +EFO:0005405 response to antihypertensive drug 04-non-disease +EFO:0005406 colorectal adenoma 02-disease-root +EFO:0005407 psychosis 03-disease-area +EFO:0005408 pyroglutamine measurement 04-non-disease +EFO:0005409 fat body mass 04-non-disease +EFO:0005410 tooth agenesis 02-disease-root +EFO:0005411 schizoaffective disorder 03-disease-area +EFO:0005412 functional impairment measurement 04-non-disease +EFO:0005413 joint damage measurement 04-non-disease +EFO:0005414 airway hyperresponsiveness 04-non-disease +EFO:0005415 serum alpha-1-antitrypsin measurement 04-non-disease +EFO:0005416 serum ST2 measurement 04-non-disease +EFO:0005417 response to mTOR inhibitor 04-non-disease +EFO:0005418 serum dimethylarginine measurement 04-non-disease +EFO:0005419 contrast sensitivity measurement 04-non-disease +EFO:0005420 grey matter volume measurement 04-non-disease +EFO:0005421 serum homoarginine measurement 04-non-disease +EFO:0005422 skin aging 04-non-disease +EFO:0005423 adolescent idiopathic scoliosis 01-disease-subtype +EFO:0005424 dyslexia 01-disease-subtype +EFO:0005425 language impairment 01-disease-subtype +EFO:0005426 autism spectrum disorder symptom 04-non-disease +EFO:0005427 social communication impairment 04-non-disease +EFO:0005429 borderline personality disorder symptom 04-non-disease +EFO:0005430 nicotine use 04-non-disease +EFO:0005431 illegal drug consumption 04-non-disease +EFO:0005432 non-substance related disinhibited behaviour 04-non-disease +EFO:0005512 estrogen receptor status 04-non-disease +EFO:0005513 progesterone receptor status 04-non-disease +EFO:0005514 HER2 status 04-non-disease +EFO:0005524 large artery stroke 01-disease-subtype +EFO:0005526 response to alcohol 04-non-disease +EFO:0005527 ejection fraction measurement 04-non-disease +EFO:0005528 parasitemia measurement 04-non-disease +EFO:0005529 Chagas cardiomyopathy 01-disease-subtype +EFO:0005530 Trypanosoma cruzi seropositivity 04-non-disease +EFO:0005531 urticaria 02-disease-root +EFO:0005532 angioedema 01-disease-subtype +EFO:0005533 response to non-steroidal anti-inflammatory 04-non-disease +EFO:0005534 delayed encephalopathy after acute carbon monoxide poisoning 01-disease-subtype +EFO:0005536 nitric oxide exhalation measurement 04-non-disease +EFO:0005537 triple-negative breast cancer 01-disease-subtype +EFO:0005538 thrombin generation potential measurement 04-non-disease +EFO:0005539 adrenal gland disease 03-disease-area +EFO:0005540 bile duct carcinoma 01-disease-subtype +EFO:0005541 bone development disease 03-disease-area +EFO:0005542 botulism 01-disease-subtype +EFO:0005543 glioma 03-disease-area +EFO:0005545 congenital disorder of glycosylation type I 02-disease-root +EFO:0005546 congenital disorder of glycosylation type II 02-disease-root +EFO:0005547 dengue disease 01-disease-subtype +EFO:0005548 developmental disorder of mental health 03-disease-area +EFO:0005549 diphtheria 02-disease-root +EFO:0005551 dysembryoplastic neuroepithelial tumor 02-disease-root +EFO:0005553 eccrine sweat gland cancer 01-disease-subtype +EFO:0005555 gamma chain deficiency 01-disease-subtype +EFO:0005556 Gilbert syndrome 01-disease-subtype +EFO:0005557 gum cancer 02-disease-root +EFO:0005558 hemolytic anemia 01-disease-subtype +EFO:0005560 hereditary multiple exostoses 02-disease-root +EFO:0005561 histiocytoma 03-disease-area +EFO:0005562 hydronephrosis 02-disease-root +EFO:0005565 janus kinase-3 deficiency 02-disease-root +EFO:0005567 malignant peritoneal mesothelioma 01-disease-subtype +EFO:0005568 methylmalonic aciduria and homocystinuria type cblE 02-disease-root +EFO:0005569 microphthalmia 02-disease-root +EFO:0005570 oral cavity cancer 03-disease-area +EFO:0005571 osteochondrodysplasia 03-disease-area +EFO:0005576 pernicious anemia 01-disease-subtype +EFO:0005577 pharynx cancer 02-disease-root +EFO:0005578 pituitary cancer 01-disease-subtype +EFO:0005579 pseudohermaphroditism 01-disease-subtype +EFO:0005580 red color blindness 01-disease-subtype +EFO:0005581 red-green color blindness 01-disease-subtype +EFO:0005582 renal pelvis carcinoma 01-disease-subtype +EFO:0005583 rickets 02-disease-root +EFO:0005584 seborrheic keratosis 02-disease-root +EFO:0005585 shigellosis 01-disease-subtype +EFO:0005588 small intestine carcinoma 01-disease-subtype +EFO:0005590 steroid inherited metabolic disorder 03-disease-area +EFO:0005591 sweat gland carcinoma 03-disease-area +EFO:0005592 T-cell leukemia 03-disease-area +EFO:0005593 tetanus 01-disease-subtype +EFO:0005595 toxic encephalopathy 01-disease-subtype +EFO:0005596 vitamin metabolic disorder 03-disease-area +EFO:0005597 methylmalonic aciduria and homocystinuria type cblG 02-disease-root +EFO:0005600 abdominal aortic fatty streak 04-non-disease +EFO:0005601 abdominal aortic raised atherosclerotic lesion 04-non-disease +EFO:0005602 age at alcohol diagnosis 04-non-disease +EFO:0005603 age at breast cancer diagnosis 04-non-disease +EFO:0005608 cortical opacity measurement 04-non-disease +EFO:0005611 opioid dependence 03-disease-area +EFO:0005612 morphine dependence 02-disease-root +EFO:0005616 coronary artery raised atherosclerotic lesion 04-non-disease +EFO:0005617 thoracic aortic fatty streak 04-non-disease +EFO:0005618 thoracic aortic raised atherosclerotic lesion 04-non-disease +EFO:0005622 Crohn's colitis 01-disease-subtype +EFO:0005623 distal colitis 01-disease-subtype +EFO:0005624 ileocolitis 01-disease-subtype +EFO:0005625 oral Crohn's disease 01-disease-subtype +EFO:0005626 pancolitis 01-disease-subtype +EFO:0005627 perianal Crohn's disease 01-disease-subtype +EFO:0005628 proctitis 01-disease-subtype +EFO:0005629 small bowel Crohn's disease 01-disease-subtype +EFO:0005631 rectal adenocarcinoma 01-disease-subtype +EFO:0005632 intestinal necrosis 04-non-disease +EFO:0005649 spondylolysis 02-disease-root +EFO:0005653 serum metabolite measurement 04-non-disease +EFO:0005654 velocity of sound measurement 04-non-disease +EFO:0005655 response to cytosine arabinoside 04-non-disease +EFO:0005657 response to protease inhibitor 04-non-disease +EFO:0005658 response to selective serotonin reuptake inhibitor 04-non-disease +EFO:0005659 plasma beta-amyloid 1-40 measurement 04-non-disease +EFO:0005660 plasma beta-amyloid 1-42 measurement 04-non-disease +EFO:0005661 Child Behaviour Checklist assessment 04-non-disease +EFO:0005663 urinary uromodulin measurement 04-non-disease +EFO:0005664 blood metabolite measurement 04-non-disease +EFO:0005665 white matter hyperintensity measurement 04-non-disease +EFO:0005666 thyroid peroxidase antibody measurement 04-non-disease +EFO:0005667 urinary albumin excretion rate 04-non-disease +EFO:0005668 anterior chamber depth measurement 04-non-disease +EFO:0005669 intracerebral hemorrhage 02-disease-root +EFO:0005670 smoking initiation 04-non-disease +EFO:0005671 smoking behaviour measurement 04-non-disease +EFO:0005672 acute coronary syndrome 01-disease-subtype +EFO:0005673 chronic mucus hypersecretion 04-non-disease +EFO:0005674 white matter microstructure measurement 04-non-disease +EFO:0005675 vitamin D-binding protein measurement 04-non-disease +EFO:0005676 Autoimmune Hepatitis 02-disease-root +EFO:0005677 puberty onset measurement 04-non-disease +EFO:0005678 hippocampal sclerosis of aging 02-disease-root +EFO:0005680 omega-6 polyunsaturated fatty acid measurement 04-non-disease +EFO:0005681 Staphylococcus aureus infection 02-disease-root +EFO:0005682 oxygen saturation measurement 04-non-disease +EFO:0005686 receptive language perception 04-non-disease +EFO:0005687 fibromyalgia 02-disease-root +EFO:0005689 non-high density lipoprotein cholesterol measurement 04-non-disease +EFO:0005690 musical aptitude 04-non-disease +EFO:0005691 plasma trimethylamine N-oxide measurement 04-non-disease +EFO:0005699 desmoplastic medulloblastoma 01-disease-subtype +EFO:0005701 malignant rhabdoid tumour 02-disease-root +EFO:0005708 renal cell adenocarcinoma 03-disease-area +EFO:0005716 retinal cancer 02-disease-root +EFO:0005717 retinoblastoma (nonhereditary) 01-disease-subtype +EFO:0005741 infectious disease 03-disease-area +EFO:0005751 eye allergy 03-disease-area +EFO:0005752 eye inflammation 04-non-disease +EFO:0005753 ocular vascular disease 03-disease-area +EFO:0005754 parathyroid disease 03-disease-area +EFO:0005755 rheumatic disease 03-disease-area +EFO:0005756 skin wound 04-non-disease +EFO:0005757 vaginal inflammation 04-non-disease +EFO:0005758 cycloplegia 01-disease-subtype +EFO:0005760 serum carcinoembryonic antigen measurement 04-non-disease +EFO:0005761 lupus nephritis 02-disease-root +EFO:0005762 neuropathic pain 04-non-disease +EFO:0005763 pulse pressure measurement 04-non-disease +EFO:0005766 skin fluorescence measurement 04-non-disease +EFO:0005767 rheumatoid factor measurement 04-non-disease +EFO:0005768 response to rate control therapy 04-non-disease +EFO:0005769 calcium metabolic disease 02-disease-root +EFO:0005771 ovarian disease 03-disease-area +EFO:0005772 neurodegenerative disease 03-disease-area +EFO:0005773 retinal detachment 02-disease-root +EFO:0005774 brain disease 03-disease-area +EFO:0005775 aortic disease 03-disease-area +EFO:0005782 age-related hearing impairment 01-disease-subtype +EFO:0005783 NUT midline carcinoma 01-disease-subtype +EFO:0005784 embryonal neoplasm 03-disease-area +EFO:0005785 blastoma 02-disease-root +EFO:0005799 neonatal abstinence syndrome 02-disease-root +EFO:0005800 substance withdrawal syndrome 02-disease-root +EFO:0005801 cholesterol embolism 02-disease-root +EFO:0005802 cartilage disease 02-disease-root +EFO:0005803 hematologic disease 03-disease-area +EFO:0005804 polycythemia 03-disease-area +EFO:0005805 polycythemia due to hypoxia 01-disease-subtype +EFO:0005809 type II hypersensitivity reaction disease 03-disease-area +EFO:0005815 tauopathy 03-disease-area +EFO:0005840 Pyruvate kinase hyperactivity 01-disease-subtype +EFO:0005842 colorectal cancer 02-disease-root +EFO:0005843 cortisol measurement 04-non-disease +EFO:0005844 response to dietary antigen 04-non-disease +EFO:0005845 hemoglobin A2 measurement 04-non-disease +EFO:0005846 cryoglobulinemia 01-disease-subtype +EFO:0005849 serum lipase activity measurement 04-non-disease +EFO:0005850 emphysema pattern measurement 04-non-disease +EFO:0005851 height-adjusted body mass index 04-non-disease +EFO:0005852 Heschl's gyrus morphology measurement 04-non-disease +EFO:0005853 response to silica exposure 04-non-disease +EFO:0005854 allergic rhinitis 02-disease-root +EFO:0005855 narcolepsy without cataplexy 01-disease-subtype +EFO:0005856 arthritis 03-disease-area +EFO:0005878 vitamin deficiency 04-non-disease +EFO:0005879 cholesterol homeostasis 04-non-disease +EFO:0005880 lipid homeostasis 04-non-disease +EFO:0005881 triglyceride homeostasis 04-non-disease +EFO:0005882 iron ion homeostasis 04-non-disease +EFO:0005890 osteoarthritis biomarker measurement 04-non-disease +EFO:0005895 ossification of the posterior longitudinal ligament of the spine 02-disease-root +EFO:0005917 generalised epilepsy 02-disease-root +EFO:0005918 osteoprotegerin measurement 04-non-disease +EFO:0005919 recombination measurement 04-non-disease +EFO:0005921 FEV change measurement 04-non-disease +EFO:0005922 esophageal squamous cell carcinoma 01-disease-subtype +EFO:0005923 AVL induced bursal lymphoma 04-non-disease +EFO:0005924 binge eating 02-disease-root +EFO:0005932 animal disease 04-non-disease +EFO:0005935 overweight body mass index status 04-non-disease +EFO:0005936 underweight body mass index status 04-non-disease +EFO:0005937 longitudinal BMI measurement 04-non-disease +EFO:0005938 congenital left-sided heart lesions 02-disease-root +EFO:0005939 parental genotype effect measurement 04-non-disease +EFO:0005940 psychotic symptoms 04-non-disease +EFO:0005941 mammographic density measurement 04-non-disease +EFO:0005942 chemotherapy-induced hypertension 01-disease-subtype +EFO:0005943 response to bevacizumab 04-non-disease +EFO:0005944 cumulative dose response to bevacizumab 04-non-disease +EFO:0005949 antinuclear antibody measurement 04-non-disease +EFO:0005950 head and neck neoplasia 03-disease-area +EFO:0005952 non-Hodgkins lymphoma 02-disease-root +EFO:0006266 sum of skinfolds 04-non-disease +EFO:0006309 plasma plasminogen measurement 04-non-disease +EFO:0006312 mitochondrial DNA measurement 04-non-disease +EFO:0006313 chemotherapy-induced oral mucositis 01-disease-subtype +EFO:0006314 response to high-dose melphalan 04-non-disease +EFO:0006315 thiopurine immunosuppressant-induced pancreatitis 02-disease-root +EFO:0006316 infant expressive language ability 04-non-disease +EFO:0006317 response to thiopurine 04-non-disease +EFO:0006318 breast ductal adenocarcinoma 01-disease-subtype +EFO:0006319 HIV viral set point measurement 04-non-disease +EFO:0006320 antidepressant-induced side effect 04-non-disease +EFO:0006321 antidepressant-induced dizziness 04-non-disease +EFO:0006322 antidepressant-induced sexual dysfunction 04-non-disease +EFO:0006323 antidepressant-induced visual impairment 04-non-disease +EFO:0006324 antidepressant-induced hearing impairment 04-non-disease +EFO:0006325 response to serotonin-norephinephrine reuptake inhibitor 04-non-disease +EFO:0006326 response to bupropion 04-non-disease +EFO:0006327 response to sertraline 04-non-disease +EFO:0006328 response to venlafaxine 04-non-disease +EFO:0006329 response to citalopram 04-non-disease +EFO:0006330 response to buspirone 04-non-disease +EFO:0006331 selenium measurement 04-non-disease +EFO:0006332 serum iron measurement 04-non-disease +EFO:0006333 transferrin saturation measurement 04-non-disease +EFO:0006334 total iron binding capacity 04-non-disease +EFO:0006335 systolic blood pressure 04-non-disease +EFO:0006336 diastolic blood pressure 04-non-disease +EFO:0006337 response to allopurinol 04-non-disease +EFO:0006338 pit and fissure surface dental caries 01-disease-subtype +EFO:0006339 smooth surface dental caries 01-disease-subtype +EFO:0006340 mean arterial pressure 04-non-disease +EFO:0006341 transferrin measurement 04-non-disease +EFO:0006342 aggressive periodontitis 01-disease-subtype +EFO:0006343 chronic periodontitis 01-disease-subtype +EFO:0006344 medication adherence behavior 04-non-disease +EFO:0006345 response to phenytoin 04-non-disease +EFO:0006346 severe cutaneous adverse reaction 03-disease-area +EFO:0006347 pulmonary artery enlargement 04-non-disease +EFO:0006348 pulmonary artery-aorta diameter ratio measurement 04-non-disease +EFO:0006352 laryngeal squamous cell carcinoma 01-disease-subtype +EFO:0006387 cystadenocarcinoma 02-disease-root +EFO:0006388 cystic renal cell carcinoma 01-disease-subtype +EFO:0006391 dopaminergic neuroblastoma 01-disease-subtype +EFO:0006452 malignant epithelioid mesothelioma 01-disease-subtype +EFO:0006460 ovarian adenocarcinoma 03-disease-area +EFO:0006461 ovarian granulosa tumour 02-disease-root +EFO:0006462 ovarian mucinous adenocarcinoma 01-disease-subtype +EFO:0006463 ovarian teratoma 01-disease-subtype +EFO:0006471 pancreatic tubular adenocarcinoma 01-disease-subtype +EFO:0006475 plasma cell leukemia 01-disease-subtype +EFO:0006497 transitional cell papilloma 01-disease-subtype +EFO:0006500 tubular adenocarcinoma 02-disease-root +EFO:0006501 carotid plaque build 04-non-disease +EFO:0006502 mammographic density percentage 04-non-disease +EFO:0006503 dense area measurement 04-non-disease +EFO:0006504 non-dense area measurement 04-non-disease +EFO:0006505 chronic bronchitis 01-disease-subtype +EFO:0006506 hepatic lipid content measurement 04-non-disease +EFO:0006507 nicotine glucuronidation measurement 04-non-disease +EFO:0006508 cotinine glucuronidation measurement 04-non-disease +EFO:0006509 Varicella Zoster infection 03-disease-area +EFO:0006510 Herpes Zoster 02-disease-root +EFO:0006511 Kashin-Beck disease 02-disease-root +EFO:0006512 angiographic measurement 04-non-disease +EFO:0006513 hereditary hemochromatosis type 1 01-disease-subtype +EFO:0006514 Alzheimer's disease biomarker measurement 04-non-disease +EFO:0006515 angiotensin-converting enzyme measurement 04-non-disease +EFO:0006516 superior frontal gyrus grey matter volume measurement 04-non-disease +EFO:0006517 interferon alpha measurement 04-non-disease +EFO:0006518 response to losartan 04-non-disease +EFO:0006519 MMR-related febrile seizures 04-non-disease +EFO:0006520 carbon monoxide exhalation measurement 04-non-disease +EFO:0006521 calcium intake measurement 04-non-disease +EFO:0006522 asymmetrical dimethylarginine measurement 04-non-disease +EFO:0006523 symmetrical dimethylarginine measurement 04-non-disease +EFO:0006524 L-arginine measurement 04-non-disease +EFO:0006525 cigarettes per day measurement 04-non-disease +EFO:0006526 pack-years measurement 04-non-disease +EFO:0006527 smoking status measurement 04-non-disease +EFO:0006544 bladder transitional cell carcinoma 01-disease-subtype +EFO:0006545 brain glioblastoma 01-disease-subtype +EFO:0006566 dysplastic oral keratinocyte 01-disease-subtype +EFO:0006718 ovarian leiomyosarcoma 01-disease-subtype +EFO:0006719 mesonephric adenocarcinoma 02-disease-root +EFO:0006732 pancreatic adenosquamous carcinoma 01-disease-subtype +EFO:0006738 plasmacytoma 02-disease-root +EFO:0006740 pulmonary mucoepidermoid carcinoma 01-disease-subtype +EFO:0006772 undifferentiated carcinoma 02-disease-root +EFO:0006781 coffee consumption measurement 04-non-disease +EFO:0006782 cups of coffee per day measurement 04-non-disease +EFO:0006783 psychosocial stress measurement 04-non-disease +EFO:0006784 body height at birth 04-non-disease +EFO:0006785 infant body height 04-non-disease +EFO:0006788 anxiety disorder 03-disease-area +EFO:0006789 typhoid fever 01-disease-subtype +EFO:0006790 cerebral amyloid angiopathy 01-disease-subtype +EFO:0006791 vascular brain injury 01-disease-subtype +EFO:0006792 Lewy body dementia 02-disease-root +EFO:0006793 left inferior lateral ventricle volume measurement 04-non-disease +EFO:0006794 cerebrospinal fluid biomarker measurement 04-non-disease +EFO:0006795 serum VEGFR2 concentration measurement 04-non-disease +EFO:0006796 very long-chain saturated fatty acid measurement 04-non-disease +EFO:0006797 neurofibrillary tangles measurement 04-non-disease +EFO:0006798 neuritic plaque measurement 04-non-disease +EFO:0006799 Lewy body dementia measurement 04-non-disease +EFO:0006800 vascular brain injury measurement 04-non-disease +EFO:0006801 Alzheimer's disease neuropathologic change 01-disease-subtype +EFO:0006802 response to red blood cell transfusion 04-non-disease +EFO:0006803 vasculitis 03-disease-area +EFO:0006804 alloimmunization 04-non-disease +EFO:0006805 word list delayed recall measurement 04-non-disease +EFO:0006806 paragraph delayed recall measurement 04-non-disease +EFO:0006807 linoleic acid measurement 04-non-disease +EFO:0006808 arachidonic acid measurement 04-non-disease +EFO:0006809 docosapentaenoic acid measurement 04-non-disease +EFO:0006810 oleic acid measurement 04-non-disease +EFO:0006811 linolenic acid measurement 04-non-disease +EFO:0006812 autoimmune thyroid disease 03-disease-area +EFO:0006813 atrophic thyroiditis 02-disease-root +EFO:0006816 response to heparin 04-non-disease +EFO:0006817 yang deficiency 04-non-disease +EFO:0006818 stricture 04-non-disease +EFO:0006819 mild disease course 04-non-disease +EFO:0006820 complicated disease course 04-non-disease +EFO:0006821 trans fatty acid measurement 04-non-disease +EFO:0006822 trans-16:1n-7 fatty acid measurement 04-non-disease +EFO:0006823 total trans-18:1 fatty acid measurement 04-non-disease +EFO:0006824 cis/trans-18:2 fatty acid measurement 04-non-disease +EFO:0006825 trans/cis-18:2 fatty acid measurement 04-non-disease +EFO:0006826 trans/trans-18:2 fatty acid measurement 04-non-disease +EFO:0006827 renin–angiotensin–aldosterone system measurement 04-non-disease +EFO:0006828 plasma renin activity measurement 04-non-disease +EFO:0006829 GFR change measurement 04-non-disease +EFO:0006830 insulin metabolic clearance rate measurement 04-non-disease +EFO:0006831 acute insulin response measurement 04-non-disease +EFO:0006832 disposition index measurement 04-non-disease +EFO:0006833 glucose effectiveness measurement 04-non-disease +EFO:0006834 septic shock 04-non-disease +EFO:0006835 pyoderma gangrenosum 04-non-disease +EFO:0006836 rapid kidney function decline 04-non-disease +EFO:0006841 respiratory disease biomarker 04-non-disease +EFO:0006842 diabetes mellitus biomarker 04-non-disease +EFO:0006843 infectious disease biomarker 04-non-disease +EFO:0006845 liver disease biomarker 04-non-disease +EFO:0006846 autoimmune disease biomarker 04-non-disease +EFO:0006848 mental or behavioural disorder biomarker 04-non-disease +EFO:0006856 leucine-induced hypoglycemia 04-non-disease +EFO:0006857 cerebral malaria 01-disease-subtype +EFO:0006858 epithelial neoplasm 03-disease-area +EFO:0006859 head and neck malignant neoplasia 03-disease-area +EFO:0006861 male breast carcinoma 01-disease-subtype +EFO:0006862 Meniere disease 01-disease-subtype +EFO:0006864 breastfeeding duration 04-non-disease +EFO:0006865 urgency urinary incontinence 04-non-disease +EFO:0006866 electrodermal activity measurement 04-non-disease +EFO:0006867 skin conductance level 04-non-disease +EFO:0006868 skin conductance response amplitude 04-non-disease +EFO:0006869 skin conductance response frequency 04-non-disease +EFO:0006870 alpha wave measurement 04-non-disease +EFO:0006871 beta wave measurement 04-non-disease +EFO:0006872 delta wave measurement 04-non-disease +EFO:0006873 theta wave measurement 04-non-disease +EFO:0006874 antisaccade response measurement 04-non-disease +EFO:0006875 acoustic startle blink response measurement 04-non-disease +EFO:0006876 seasonality measurement 04-non-disease +EFO:0006882 suicide behaviour measurement 04-non-disease +EFO:0006883 alpha peak frequency measurement 04-non-disease +EFO:0006884 mouth mucous membrane leukoplakia 04-non-disease +EFO:0006885 leukoplakia of tongue 04-non-disease +EFO:0006886 pancreaticobiliary malunion 04-non-disease +EFO:0006887 radiologic finding 04-non-disease +EFO:0006888 vascular malformation 01-disease-subtype +EFO:0006889 monoclonal B-cell lymphocytosis 04-non-disease +EFO:0006890 fibrosis 03-disease-area +EFO:0006891 breast adenosis 02-disease-root +EFO:0006892 cutaneous precancerous condition 04-non-disease +EFO:0006893 proliferative inflammatory atrophy 04-non-disease +EFO:0006896 glucose homeostasis measurement 04-non-disease +EFO:0006897 airway responsiveness measurement 04-non-disease +EFO:0006898 airway wall thickness measurement 04-non-disease +EFO:0006899 PCSK9 protein measurement 04-non-disease +EFO:0006900 endothelial growth factor measurement 04-non-disease +EFO:0006901 angiopoietin-2 measurement 04-non-disease +EFO:0006902 angiopoietin-2 receptor measurement 04-non-disease +EFO:0006903 hepatocyte growth factor measurement 04-non-disease +EFO:0006904 response to efavirenz 04-non-disease +EFO:0006905 response to abacavir 04-non-disease +EFO:0006906 virologic response measurement 04-non-disease +EFO:0006911 Chemotherapy-induced nausea and vomiting 04-non-disease +EFO:0006912 Radiation-induced nausea and vomiting 04-non-disease +EFO:0006913 prefrontal cortex cytoarchtiectural measurement 04-non-disease +EFO:0006916 response to dalcetrapib 04-non-disease +EFO:0006917 spontaneous preterm birth 04-non-disease +EFO:0006918 female fertility 04-non-disease +EFO:0006919 cardiovascular event measurement 04-non-disease +EFO:0006920 BNP measurement 04-non-disease +EFO:0006921 birth measurement 04-non-disease +EFO:0006922 delivery measurement 04-non-disease +EFO:0006923 fertility measurement 04-non-disease +EFO:0006924 household air pollution measurement 04-non-disease +EFO:0006925 lipoprotein A measurement 04-non-disease +EFO:0006926 acquired aplastic anemia 04-non-disease +EFO:0006927 severe aplastic anemia 04-non-disease +EFO:0006928 motion sickness 04-non-disease +EFO:0006929 IgG index 04-non-disease +EFO:0006930 brain volume measurement 04-non-disease +EFO:0006931 nucleus accumbens volume 04-non-disease +EFO:0006932 putamen volume 04-non-disease +EFO:0006933 pallidum volume 04-non-disease +EFO:0006934 amygdala volume 04-non-disease +EFO:0006935 thalamus volume 04-non-disease +EFO:0006936 optic disc measurement 04-non-disease +EFO:0006937 optic disc area measurement 04-non-disease +EFO:0006938 optic rim area measurement 04-non-disease +EFO:0006939 cup-to-disc ratio measurement 04-non-disease +EFO:0006940 optic cup area measurement 04-non-disease +EFO:0006941 grip strength measurement 04-non-disease +EFO:0006942 facial pigmentation measurement 04-non-disease +EFO:0006943 blood pressure change measurement 04-non-disease +EFO:0006944 systolic blood pressure change measurement 04-non-disease +EFO:0006945 diastolic blood pressure change measurement 04-non-disease +EFO:0006946 behavioural disinhibition measurement 04-non-disease +EFO:0006947 red wine liking measurement 04-non-disease +EFO:0006948 white wine liking measurement 04-non-disease +EFO:0006949 wine liking measurement 04-non-disease +EFO:0006950 response to vincristine 04-non-disease +EFO:0006951 ototoxicity 04-non-disease +EFO:0006952 cytotoxicity measurement 04-non-disease +EFO:0006953 family history of lung cancer 04-non-disease +EFO:0006954 response to triamcinolone acetonide 04-non-disease +EFO:0006955 ADAMTS13 activity measurement 04-non-disease +EFO:0006956 intraocular pressure change measurement 04-non-disease +EFO:0006957 X12063 measurement 04-non-disease +EFO:0006958 mannose measurement 04-non-disease +EFO:0006959 gene methylation measurement 04-non-disease +EFO:0006988 endophenotype 04-non-disease +EFO:0006992 response to biological dust exposure 04-non-disease +EFO:0006993 response to mineral dust exposure 04-non-disease +EFO:0006994 response to gases and fumes exposure 04-non-disease +EFO:0006995 response to diisocyanate 04-non-disease +EFO:0006996 response to homoharringtonine 04-non-disease +EFO:0006997 response to cold medicine 04-non-disease +EFO:0006998 response to stavudine 04-non-disease +EFO:0006999 cancer aggressiveness measurement 04-non-disease +EFO:0007000 Gleason score measurement 04-non-disease +EFO:0007001 dehydroepiandrosterone sulphate measurement 04-non-disease +EFO:0007002 luteinizing hormone measurement 04-non-disease +EFO:0007003 prolactin measurement 04-non-disease +EFO:0007004 progesterone measurement 04-non-disease +EFO:0007005 free androgen index 04-non-disease +EFO:0007006 depressive symptom measurement 04-non-disease +EFO:0007007 ticagrelor measurement 04-non-disease +EFO:0007008 allergy measurement 04-non-disease +EFO:0007009 skin pigmentation measurement 04-non-disease +EFO:0007010 drug use measurement 04-non-disease +EFO:0007011 SSRI use measurement 04-non-disease +EFO:0007012 NSAID use measurement 04-non-disease +EFO:0007013 aspirin use measurement 04-non-disease +EFO:0007014 3-hydroxypropylmercapturic acid measurement 04-non-disease +EFO:0007015 3-hydroxy-1-methylpropylmercapturic acid measurement 04-non-disease +EFO:0007016 food allergy measurement 04-non-disease +EFO:0007017 peanut allergy measurement 04-non-disease +EFO:0007018 egg allergy measurement 04-non-disease +EFO:0007019 milk allergy measurement 04-non-disease +EFO:0007020 AR-C124910XX measurement 04-non-disease +EFO:0007021 Lewy body measurement 04-non-disease +EFO:0007034 seropositivity measurement 04-non-disease +EFO:0007035 Chlamydia pneumoniae seropositivity 04-non-disease +EFO:0007036 herpes virus seropositivity 04-non-disease +EFO:0007037 cytomegalovirus seropositivity 04-non-disease +EFO:0007038 Influenza A seropositivity 04-non-disease +EFO:0007039 human herpesvirus 8 seropositivity 04-non-disease +EFO:0007040 blood lead measurement 04-non-disease +EFO:0007041 obese body mass index status 04-non-disease +EFO:0007042 polychlorinated biphenyls measurement 04-non-disease +EFO:0007043 response to transplant 04-non-disease +EFO:0007044 response to allogeneic hematopoietic stem cell transplant 04-non-disease +EFO:0007046 executive function 04-non-disease +EFO:0007047 Toxoplasma gondii seropositivity 04-non-disease +EFO:0007048 human herpesvirus 6 seropositivity 04-non-disease +EFO:0007049 gliadin seropositivity 04-non-disease +EFO:0007050 HSV1 seropositivity 04-non-disease +EFO:0007051 vein graft stenosis 04-non-disease +EFO:0007052 antisocial behaviour measurement 04-non-disease +EFO:0007053 myelosuppression 04-non-disease +EFO:0007054 microsatellite instability measurement 04-non-disease +EFO:0007057 miotic rate 04-non-disease +EFO:0007058 last follow up 04-non-disease +EFO:0007061 passage number 04-non-disease +EFO:0007064 cell cycle phase 04-non-disease +EFO:0007066 chronic ulcer of skin 04-non-disease +EFO:0007067 decubitus ulcer 04-non-disease +EFO:0007068 ulcer of lower limb 04-non-disease +EFO:0007117 carotid artery intima media thickness 04-non-disease +EFO:0007118 sitting height ratio 04-non-disease +EFO:0007124 salivary gland lesion 04-non-disease +EFO:0007125 lachrymal gland lesion 04-non-disease +EFO:0007126 Acanthamoeba keratitis 01-disease-subtype +EFO:0007127 actinobacillosis 02-disease-root +EFO:0007128 actinomycosis 01-disease-subtype +EFO:0007129 acute chest syndrome 02-disease-root +EFO:0007130 acute disseminated encephalomyelitis 02-disease-root +EFO:0007131 acute hemorrhagic conjunctivitis 01-disease-subtype +EFO:0007132 acute hemorrhagic leukoencephalitis 01-disease-subtype +EFO:0007133 adenomyoma 02-disease-root +EFO:0007134 adenosarcoma 02-disease-root +EFO:0007135 adult-onset Still's disease 02-disease-root +EFO:0007136 agnosia 02-disease-root +EFO:0007137 AIDS related complex 01-disease-subtype +EFO:0007138 akinetic mutism 02-disease-root +EFO:0007139 aleutian mink disease 02-disease-root +EFO:0007140 allergic bronchopulmonary aspergillosis 01-disease-subtype +EFO:0007141 allergic conjunctivitis 01-disease-subtype +EFO:0007142 Alphavirus infectious disease 01-disease-subtype +EFO:0007143 alveolar soft part sarcoma 02-disease-root +EFO:0007144 amebiasis 02-disease-root +EFO:0007145 ancylostomiasis 01-disease-subtype +EFO:0007146 anisakiasis 01-disease-subtype +EFO:0007147 anogenital venereal wart 01-disease-subtype +EFO:0007148 aortic valve insufficiency 01-disease-subtype +EFO:0007149 appendicitis 01-disease-subtype +EFO:0007150 Arenaviridae infectious disease 02-disease-root +EFO:0007151 Arenavirus hemorrhagic fever 01-disease-subtype +EFO:0007152 Arterivirus infectious disease 01-disease-subtype +EFO:0007153 asbestosis 01-disease-subtype +EFO:0007154 ascariasis 01-disease-subtype +EFO:0007155 ascaridiasis 01-disease-subtype +EFO:0007156 Ascaridida infectious disease 01-disease-subtype +EFO:0007157 aspergillosis 02-disease-root +EFO:0007158 Astroviridae infectious disease 02-disease-root +EFO:0007159 atrophic rhinitis 02-disease-root +EFO:0007160 autoimmune thrombocytopenic purpura 01-disease-subtype +EFO:0007161 Avulavirus infectious disease 01-disease-subtype +EFO:0007162 babesiosis 02-disease-root +EFO:0007163 balantidiasis 01-disease-subtype +EFO:0007164 Balkan nephropathy 01-disease-subtype +EFO:0007165 Barre-Lieou syndrome 02-disease-root +EFO:0007166 bartonellosis 01-disease-subtype +EFO:0007167 Bell's palsy 02-disease-root +EFO:0007168 berylliosis 01-disease-subtype +EFO:0007169 biliary dyskinesia 02-disease-root +EFO:0007170 bird fancier's lung 01-disease-subtype +EFO:0007171 black piedra 01-disease-subtype +EFO:0007172 blackwater fever 01-disease-subtype +EFO:0007173 Blastocystis hominis infectious disease 01-disease-subtype +EFO:0007174 blastomycosis 01-disease-subtype +EFO:0007175 blind loop syndrome 02-disease-root +EFO:0007176 bone giant cell tumor 01-disease-subtype +EFO:0007177 border disease 04-non-disease +EFO:0007178 borna disease 01-disease-subtype +EFO:0007179 boutonneuse fever 01-disease-subtype +EFO:0007180 bovine respiratory disease complex 01-disease-subtype +EFO:0007181 bovine virus diarrhea-mucosal disease 04-non-disease +EFO:0007182 Brill-Zinsser disease 01-disease-subtype +EFO:0007183 bronchiolitis obliterans 01-disease-subtype +EFO:0007184 bronchopneumonia 01-disease-subtype +EFO:0007185 brucellosis 02-disease-root +EFO:0007186 bulbar polio 01-disease-subtype +EFO:0007187 bullous pemphigoid 02-disease-root +EFO:0007188 Bunyaviridae infectious disease 02-disease-root +EFO:0007189 Caliciviridae infectious disease 02-disease-root +EFO:0007190 campylobacteriosis 02-disease-root +EFO:0007191 cannabis dependence 02-disease-root +EFO:0007192 Caplan's syndrome 01-disease-subtype +EFO:0007193 carbamoyl phosphate synthetase I deficiency disease 01-disease-subtype +EFO:0007194 Cardiovirus infectious disease 01-disease-subtype +EFO:0007195 cat-scratch disease 01-disease-subtype +EFO:0007196 Cauda equina syndrome 02-disease-root +EFO:0007197 cecal benign neoplasm 02-disease-root +EFO:0007198 central nervous system AIDS arteritis 01-disease-subtype +EFO:0007199 central nervous system tuberculosis 01-disease-subtype +EFO:0007200 cerebral toxoplasmosis 01-disease-subtype +EFO:0007201 cerebral ventricle cancer 01-disease-subtype +EFO:0007202 cervical incompetence 02-disease-root +EFO:0007203 cervicofacial actinomycosis 01-disease-subtype +EFO:0007204 chickenpox 02-disease-root +EFO:0007205 Chlamydia trachomatis infectious disease 01-disease-subtype +EFO:0007206 choroid plexus cancer 01-disease-subtype +EFO:0007207 chromoblastomycosis 01-disease-subtype +EFO:0007208 Churg-Strauss syndrome 01-disease-subtype +EFO:0007209 Ciliophora infectious disease 02-disease-root +EFO:0007210 clonorchiasis 02-disease-root +EFO:0007211 coccidioidomycosis 01-disease-subtype +EFO:0007212 coccidiosis 03-disease-area +EFO:0007213 Colorado tick fever 01-disease-subtype +EFO:0007214 common cold 02-disease-root +EFO:0007215 composite lymphoma 02-disease-root +EFO:0007216 congenital diaphragmatic hernia 01-disease-subtype +EFO:0007217 congenital nystagmus 02-disease-root +EFO:0007218 congenital rubella 01-disease-subtype +EFO:0007219 congenital syphilis 01-disease-subtype +EFO:0007220 congenital toxoplasmosis 01-disease-subtype +EFO:0007221 contagious pleuropneumonia 01-disease-subtype +EFO:0007222 contagious pustular dermatitis 02-disease-root +EFO:0007223 Coronaviridae infectious disease 01-disease-subtype +EFO:0007224 coronavirus infectious disease 02-disease-root +EFO:0007225 cowpox 02-disease-root +EFO:0007226 coxsackievirus infectious disease 01-disease-subtype +EFO:0007227 croup 01-disease-subtype +EFO:0007228 cryptococcal meningitis 01-disease-subtype +EFO:0007229 cryptococcosis 02-disease-root +EFO:0007230 cyclosporiasis 02-disease-root +EFO:0007231 cysticercosis 01-disease-subtype +EFO:0007232 cystoisosporiasis 02-disease-root +EFO:0007233 diaphragm disease 03-disease-area +EFO:0007234 dicrocoeliasis 02-disease-root +EFO:0007235 Dictyocaulus infectious disease 01-disease-subtype +EFO:0007236 diffuse idiopathic skeletal hyperostosis 02-disease-root +EFO:0007237 dipetalonemiasis 01-disease-subtype +EFO:0007238 diphyllobothriasis 02-disease-root +EFO:0007239 dirofilariasis 01-disease-subtype +EFO:0007240 dourine 04-non-disease +EFO:0007241 dracunculiasis 01-disease-subtype +EFO:0007242 Eastern equine encephalitis 02-disease-root +EFO:0007243 Ebola hemorrhagic fever 02-disease-root +EFO:0007244 Ebstein anomaly 01-disease-subtype +EFO:0007245 echinococcosis 02-disease-root +EFO:0007246 echinostomiasis 02-disease-root +EFO:0007247 echovirus infectious disease 01-disease-subtype +EFO:0007248 egg allergy 02-disease-root +EFO:0007249 emphysematous cholecystitis 01-disease-subtype +EFO:0007250 encephalitozoonosis 01-disease-subtype +EFO:0007251 endocardial fibroelastosis 02-disease-root +EFO:0007252 endodermal sinus tumor 01-disease-subtype +EFO:0007253 Enoplea infectious disease 02-disease-root +EFO:0007254 enterobiasis 01-disease-subtype +EFO:0007255 Enterovirus infectious disease 01-disease-subtype +EFO:0007256 enzootic pneumonia of calves 01-disease-subtype +EFO:0007257 eosinophilic pneumonia 01-disease-subtype +EFO:0007258 ephemeral fever 04-non-disease +EFO:0007259 epidemic pleurodynia 02-disease-root +EFO:0007260 epidural abscess 01-disease-subtype +EFO:0007261 epiglottitis 02-disease-root +EFO:0007262 epilepsy with generalized tonic-clonic seizures 01-disease-subtype +EFO:0007263 equine infectious anemia 01-disease-subtype +EFO:0007264 ethmoid sinusitis 02-disease-root +EFO:0007265 eumycotic mycetoma 01-disease-subtype +EFO:0007266 eunuchism 01-disease-subtype +EFO:0007268 fascioloidiasis 02-disease-root +EFO:0007269 Felty's syndrome 01-disease-subtype +EFO:0007270 femoral cancer 02-disease-root +EFO:0007271 fibroepithelial neoplasm 03-disease-area +EFO:0007272 filarial elephantiasis 01-disease-subtype +EFO:0007273 Filoviridae infectious disease 01-disease-subtype +EFO:0007274 Flaviviridae infectious disease 02-disease-root +EFO:0007275 focal epithelial hyperplasia 02-disease-root +EFO:0007276 follicular dendritic cell sarcoma 01-disease-subtype +EFO:0007277 foot and mouth disease 04-non-disease +EFO:0007278 fungal lung infectious disease 02-disease-root +EFO:0007279 gas gangrene 01-disease-subtype +EFO:0007280 gastrointestinal tuberculosis 01-disease-subtype +EFO:0007281 geniculate herpes zoster 01-disease-subtype +EFO:0007282 genital herpes 01-disease-subtype +EFO:0007283 geographic tongue 01-disease-subtype +EFO:0007284 geotrichosis 02-disease-root +EFO:0007285 Gerstmann syndrome 02-disease-root +EFO:0007286 glanders 01-disease-subtype +EFO:0007287 glucosephosphate dehydrogenase deficiency 02-disease-root +EFO:0007289 gnathomiasis 02-disease-root +EFO:0007290 Goodpasture syndrome 02-disease-root +EFO:0007291 granuloma inguinale 01-disease-subtype +EFO:0007292 Guillain-Barre syndrome 02-disease-root +EFO:0007293 haemonchiasis 01-disease-subtype +EFO:0007294 hand, foot and mouth disease 01-disease-subtype +EFO:0007295 Hantavirus infectious disease 02-disease-root +EFO:0007296 hantavirus pulmonary syndrome 01-disease-subtype +EFO:0007297 HELLP syndrome 01-disease-subtype +EFO:0007298 hemopericardium 01-disease-subtype +EFO:0007299 hemorrhagic fever with renal syndrome 01-disease-subtype +EFO:0007300 Henipavirus infectious disease 01-disease-subtype +EFO:0007301 Hepadnaviridae infectious disease 02-disease-root +EFO:0007302 hepatic tuberculosis 01-disease-subtype +EFO:0007303 hepatitis E virus infection 02-disease-root +EFO:0007304 hepatitis D virus infection 02-disease-root +EFO:0007305 hepatitis A virus infection 02-disease-root +EFO:0007306 herpangina 02-disease-root +EFO:0007307 Herpes simplex virus gingivostomatitis 01-disease-subtype +EFO:0007308 Herpes simplex virus keratitis 01-disease-subtype +EFO:0007309 Herpesviridae infectious disease 02-disease-root +EFO:0007310 histoplasmosis 01-disease-subtype +EFO:0007311 HIV enteropathy 02-disease-root +EFO:0007312 HIV wasting syndrome 02-disease-root +EFO:0007313 HIV-associated nephropathy 01-disease-subtype +EFO:0007314 hookworm infectious disease 02-disease-root +EFO:0007315 hordeolum 01-disease-subtype +EFO:0007316 Human T-lymphotropic virus 1 infectious disease 02-disease-root +EFO:0007317 hymenolepiasis 02-disease-root +EFO:0007318 hyperinsulinemic hypoglycemia 03-disease-area +EFO:0007319 hyperprolactinemia 01-disease-subtype +EFO:0007320 hypodermyiasis 01-disease-subtype +EFO:0007321 hypopharynx cancer 01-disease-subtype +EFO:0007322 idiopathic CD4-positive T-lymphocytopenia 01-disease-subtype +EFO:0007323 inclusion body myositis 01-disease-subtype +EFO:0007324 inclusion conjunctivitis 01-disease-subtype +EFO:0007325 infectious ectromelia 04-non-disease +EFO:0007326 infectious mononucleosis 01-disease-subtype +EFO:0007327 infectious myxomatosis 04-non-disease +EFO:0007328 influenza 02-disease-root +EFO:0007329 interdigitating dendritic cell sarcoma 01-disease-subtype +EFO:0007330 intestinal cancer 03-disease-area +EFO:0007331 islet cell tumor 03-disease-area +EFO:0007332 Japanese encephalitis 02-disease-root +EFO:0007333 jaw cancer 01-disease-subtype +EFO:0007335 Kluver-Bucy syndrome 01-disease-subtype +EFO:0007336 Langerhans cell sarcoma 01-disease-subtype +EFO:0007337 laryngeal tuberculosis 01-disease-subtype +EFO:0007338 Lassa fever 01-disease-subtype +EFO:0007339 late congenital syphilis 01-disease-subtype +EFO:0007340 latent syphilis 01-disease-subtype +EFO:0007342 legionellosis 02-disease-root +EFO:0007343 Legionnaires' disease 01-disease-subtype +EFO:0007344 leptospirosis 02-disease-root +EFO:0007345 lipid pneumonia 01-disease-subtype +EFO:0007346 lipoatrophic diabetes 01-disease-subtype +EFO:0007347 listeriosis 02-disease-root +EFO:0007348 louping ill 01-disease-subtype +EFO:0007349 lumpy skin disease 02-disease-root +EFO:0007350 lymph node tuberculosis 01-disease-subtype +EFO:0007351 lymphangitis 02-disease-root +EFO:0007352 lymphatic system disease 03-disease-area +EFO:0007353 lymphogranuloma venereum 01-disease-subtype +EFO:0007355 male reproductive organ cancer 03-disease-area +EFO:0007356 mandibular cancer 01-disease-subtype +EFO:0007357 mansonelliasis 01-disease-subtype +EFO:0007358 Marburg hemorrhagic fever 01-disease-subtype +EFO:0007359 mast-cell leukemia 01-disease-subtype +EFO:0007360 maxillary neoplasm 03-disease-area +EFO:0007361 maxillary sinusitis 02-disease-root +EFO:0007362 mediastinal cancer 02-disease-root +EFO:0007363 meibomian cyst 01-disease-subtype +EFO:0007364 meningoencephalitis 02-disease-root +EFO:0007365 mesoblastic nephroma 01-disease-subtype +EFO:0007366 microsporidiosis 02-disease-root +EFO:0007367 middle lobe syndrome 02-disease-root +EFO:0007368 miliary tuberculosis 01-disease-subtype +EFO:0007369 milk allergic reaction 02-disease-root +EFO:0007370 milker's nodule 02-disease-root +EFO:0007371 Miller Fisher syndrome 02-disease-root +EFO:0007372 mitral valve stenosis 01-disease-subtype +EFO:0007373 mixed cell type cancer 02-disease-root +EFO:0007374 mixed connective tissue disease 02-disease-root +EFO:0007375 molluscum contagiosum 02-disease-root +EFO:0007376 Mononegavirales infectious disease 02-disease-root +EFO:0007377 Morbillivirus infectious disease 01-disease-subtype +EFO:0007378 mucinous cystadenocarcinoma 01-disease-subtype +EFO:0007379 mucocutaneous Leishmaniasis 01-disease-subtype +EFO:0007380 mucormycosis 02-disease-root +EFO:0007381 multidrug-resistant tuberculosis 01-disease-subtype +EFO:0007382 multiple chemical sensitivity 03-disease-area +EFO:0007383 Mumps virus infectious disease 01-disease-subtype +EFO:0007384 muscle cancer 03-disease-area +EFO:0007385 mushroom workers' lung 01-disease-subtype +EFO:0007386 Mycobacterium avium complex disease 02-disease-root +EFO:0007387 Mycoplasma pneumoniae pneumonia 01-disease-subtype +EFO:0007388 myelophthisic anemia 01-disease-subtype +EFO:0007389 myiasis 02-disease-root +EFO:0007390 necatoriasis 02-disease-root +EFO:0007391 Nematoda infectious disease 03-disease-area +EFO:0007392 nervous system cancer 03-disease-area +EFO:0007393 neuroaspergillosis 01-disease-subtype +EFO:0007394 neuroschistosomiasis 01-disease-subtype +EFO:0007395 Newcastle disease 02-disease-root +EFO:0007396 Nidovirales infectious disease 02-disease-root +EFO:0007397 nocardiosis 01-disease-subtype +EFO:0007398 ocular onchocerciasis 01-disease-subtype +EFO:0007399 ocular toxoplasmosis 01-disease-subtype +EFO:0007400 oesophagostomiasis 01-disease-subtype +EFO:0007401 oligohydramnios 02-disease-root +EFO:0007402 onchocerciasis 01-disease-subtype +EFO:0007403 ophthalmic herpes zoster 01-disease-subtype +EFO:0007404 opisthorchiasis 02-disease-root +EFO:0007405 optic neuritis 02-disease-root +EFO:0007406 oral candidiasis 01-disease-subtype +EFO:0007407 oral tuberculosis 01-disease-subtype +EFO:0007408 orbital cancer 01-disease-subtype +EFO:0007409 Ornithine transcarbamylase deficiency 01-disease-subtype +EFO:0007410 ornithosis 02-disease-root +EFO:0007411 Orthomyxoviridae infectious disease 02-disease-root +EFO:0007412 ossifying fibroma 02-disease-root +EFO:0007413 osteitis fibrosa 02-disease-root +EFO:0007414 ostertagiasis 01-disease-subtype +EFO:0007415 otitis media with effusion 01-disease-subtype +EFO:0007416 pancreatic endocrine carcinoma 02-disease-root +EFO:0007417 paracoccidioidomycosis 01-disease-subtype +EFO:0007418 paragonimiasis 02-disease-root +EFO:0007419 Paramyxoviridae infectious disease 01-disease-subtype +EFO:0007420 paratyphoid fever 01-disease-subtype +EFO:0007421 paronychia 02-disease-root +EFO:0007422 parotid disease 03-disease-area +EFO:0007423 parotitis 02-disease-root +EFO:0007424 pasteurellosis 02-disease-root +EFO:0007425 peanut allergic reaction 02-disease-root +EFO:0007426 pericardial tuberculosis 01-disease-subtype +EFO:0007427 pericarditis 02-disease-root +EFO:0007428 periodic limb movement disorder 02-disease-root +EFO:0007429 peritonsillar abscess 01-disease-subtype +EFO:0007430 persian gulf syndrome 04-non-disease +EFO:0007431 peste des petits ruminants infectious disease 02-disease-root +EFO:0007432 Pestivirus infectious disease 01-disease-subtype +EFO:0007433 phagocyte bactericidal dysfunction 03-disease-area +EFO:0007434 pharyngoconjunctival fever 02-disease-root +EFO:0007436 phencyclidine abuse 02-disease-root +EFO:0007437 Phlebotomus fever 02-disease-root +EFO:0007438 Picornaviridae infectious disease 02-disease-root +EFO:0007439 pityriasis versicolor 01-disease-subtype +EFO:0007440 placenta accreta 02-disease-root +EFO:0007441 placenta disease 03-disease-area +EFO:0007442 placenta praevia 02-disease-root +EFO:0007443 placental insufficiency 02-disease-root +EFO:0007444 Plasmodium falciparum malaria 01-disease-subtype +EFO:0007445 Plasmodium vivax malaria 01-disease-subtype +EFO:0007446 pleural tuberculosis 01-disease-subtype +EFO:0007447 Pneumocystis infectious disease 02-disease-root +EFO:0007448 pneumocystosis 01-disease-subtype +EFO:0007449 pneumonic pasteurellosis 02-disease-root +EFO:0007450 poliomyelitis 01-disease-subtype +EFO:0007451 Polyomavirus infectious disease 02-disease-root +EFO:0007452 post-thrombotic syndrome 01-disease-subtype +EFO:0007453 postpartum depression 01-disease-subtype +EFO:0007454 postpoliomyelitis syndrome 01-disease-subtype +EFO:0007455 progressive multifocal leukoencephalopathy 02-disease-root +EFO:0007456 pseudomyxoma peritonei 02-disease-root +EFO:0007457 pseudorabies 02-disease-root +EFO:0007458 pulmonary blastoma 01-disease-subtype +EFO:0007459 pyruvate decarboxylase deficiency 02-disease-root +EFO:0007460 reactive arthritis 02-disease-root +EFO:0007461 recurrent pneumonia 01-disease-subtype +EFO:0007462 REM sleep behavior disorder 02-disease-root +EFO:0007463 renal tuberculosis 01-disease-subtype +EFO:0007464 Reoviridae infectious disease 02-disease-root +EFO:0007465 Respirovirus infectious disease 01-disease-subtype +EFO:0007466 retroperitoneal cancer 02-disease-root +EFO:0007467 Reye syndrome 02-disease-root +EFO:0007468 Rhabditida infectious disease 02-disease-root +EFO:0007469 Rhabdoviridae infectious disease 01-disease-subtype +EFO:0007470 rhinoscleroma 01-disease-subtype +EFO:0007471 rhinosporidiosis 01-disease-subtype +EFO:0007472 rickettsial pneumonia 01-disease-subtype +EFO:0007473 Ritter's disease 01-disease-subtype +EFO:0007474 Roseolovirus infectious disease 01-disease-subtype +EFO:0007475 Salmonella gastroenteritis 01-disease-subtype +EFO:0007476 sarcocystosis 02-disease-root +EFO:0007477 scarlet fever 01-disease-subtype +EFO:0007478 scirrhous adenocarcinoma 02-disease-root +EFO:0007479 screw worm infectious disease 01-disease-subtype +EFO:0007480 scrub typhus 01-disease-subtype +EFO:0007481 septicemic plague 01-disease-subtype +EFO:0007482 setariasis 01-disease-subtype +EFO:0007483 sex cord-gonadal stromal tumor 02-disease-root +EFO:0007484 sick building syndrome 01-disease-subtype +EFO:0007485 silicosis 01-disease-subtype +EFO:0007486 sinusitis 03-disease-area +EFO:0007487 skeletal tuberculosis 01-disease-subtype +EFO:0007488 sparganosis 02-disease-root +EFO:0007489 sphenoid sinusitis 02-disease-root +EFO:0007490 spinal stenosis 02-disease-root +EFO:0007491 spleen cancer 02-disease-root +EFO:0007492 splenic tuberculosis 01-disease-subtype +EFO:0007493 spondylolisthesis 02-disease-root +EFO:0007494 sporotrichosis 02-disease-root +EFO:0007495 St. Louis encephalitis 01-disease-subtype +EFO:0007496 staphylococcal pneumonia 01-disease-subtype +EFO:0007497 staphyloenterotoxemia 02-disease-root +EFO:0007498 Stiff-Person syndrome 01-disease-subtype +EFO:0007499 streptococcal pneumonia 01-disease-subtype +EFO:0007500 Strongylida infectious disease 02-disease-root +EFO:0007501 strongyloidiasis 01-disease-subtype +EFO:0007502 subacute sclerosing panencephalitis 01-disease-subtype +EFO:0007503 suppurative otitis media 02-disease-root +EFO:0007504 syphilis 01-disease-subtype +EFO:0007505 tabes dorsalis 01-disease-subtype +EFO:0007506 theileriasis 02-disease-root +EFO:0007507 thoracic outlet syndrome 02-disease-root +EFO:0007508 tick infestation 02-disease-root +EFO:0007509 tick paralysis 01-disease-subtype +EFO:0007510 tinea 02-disease-root +EFO:0007511 tinea favosa 01-disease-subtype +EFO:0007512 tinea pedis 01-disease-subtype +EFO:0007513 Togaviridae infectious disease 02-disease-root +EFO:0007514 Torovirus infectious disease 01-disease-subtype +EFO:0007515 toxascariasis 01-disease-subtype +EFO:0007516 toxocariasis 01-disease-subtype +EFO:0007517 toxoplasmosis 02-disease-root +EFO:0007518 tracheitis 01-disease-subtype +EFO:0007519 trench fever 01-disease-subtype +EFO:0007520 trichinosis 02-disease-root +EFO:0007521 Trichomonas vaginitis 01-disease-subtype +EFO:0007522 trichostrongyloidiasis 01-disease-subtype +EFO:0007523 trichostrongylosis 01-disease-subtype +EFO:0007524 trichuriasis 01-disease-subtype +EFO:0007525 tricuspid valve stenosis 01-disease-subtype +EFO:0007526 trombiculiasis 01-disease-subtype +EFO:0007527 tropical spastic paraparesis 01-disease-subtype +EFO:0007528 tuberculous empyema 01-disease-subtype +EFO:0007529 tuberculous peritonitis 01-disease-subtype +EFO:0007530 urinary schistosomiasis 01-disease-subtype +EFO:0007531 urogenital tuberculosis 01-disease-subtype +EFO:0007532 uterine corpus cancer 02-disease-root +EFO:0007533 vasomotor rhinitis 01-disease-subtype +EFO:0007534 Venezuelan equine encephalitis 01-disease-subtype +EFO:0007535 verrucous carcinoma 01-disease-subtype +EFO:0007536 vesicoureteral reflux 02-disease-root +EFO:0007537 vestibular neuronitis 01-disease-subtype +EFO:0007538 viral encephalitis 03-disease-area +EFO:0007539 viral hemorrhagic septicemia 01-disease-subtype +EFO:0007540 animal viral hepatitis 02-disease-root +EFO:0007541 viral pneumonia 01-disease-subtype +EFO:0007542 visna 01-disease-subtype +EFO:0007543 vulvovaginal candidiasis 01-disease-subtype +EFO:0007544 Waterhouse-Friderichsen syndrome 01-disease-subtype +EFO:0007545 West Nile encephalitis 01-disease-subtype +EFO:0007546 Western equine encephalitis 01-disease-subtype +EFO:0007547 Wissler's syndrome 02-disease-root +EFO:0007548 yaws 01-disease-subtype +EFO:0007549 Zollinger-Ellison Syndrome 01-disease-subtype +EFO:0007574 blood toxic metal measurement 04-non-disease +EFO:0007575 blood aluminium measurement 04-non-disease +EFO:0007576 blood cadmium measurement 04-non-disease +EFO:0007577 blood cobalt measurement 04-non-disease +EFO:0007578 blood copper measurement 04-non-disease +EFO:0007579 blood chromium measurement 04-non-disease +EFO:0007580 blood mercury measurement 04-non-disease +EFO:0007581 blood manganese measurement 04-non-disease +EFO:0007582 blood molybdenum measurement 04-non-disease +EFO:0007583 blood nickel measurement 04-non-disease +EFO:0007584 blood zinc measurement 04-non-disease +EFO:0007585 Cannabis use 04-non-disease +EFO:0007586 Cannabis use initiation 04-non-disease +EFO:0007591 bone mineral accretion measurement 04-non-disease +EFO:0007592 response to bleomycin 04-non-disease +EFO:0007593 chromatid break measurement 04-non-disease +EFO:0007602 total ventricular volume measurement 04-non-disease +EFO:0007612 response to montelukast 04-non-disease +EFO:0007613 response to endocrine therapy 04-non-disease +EFO:0007614 asthma exacerbation measurement 04-non-disease +EFO:0007615 thrombus formation measurement 04-non-disease +EFO:0007616 hearing measurement 04-non-disease +EFO:0007617 pure tone hearing measurement 04-non-disease +EFO:0007618 hearing threshold measurement 04-non-disease +EFO:0007619 suicide ideation measurement 04-non-disease +EFO:0007620 volumetric bone mineral density 04-non-disease +EFO:0007621 bone mineral content measurement 04-non-disease +EFO:0007622 sRAGE measurement 04-non-disease +EFO:0007623 suicide behaviour 04-non-disease +EFO:0007624 suicide 04-non-disease +EFO:0007625 asthenia 04-non-disease +EFO:0007626 emphysema imaging measurement 04-non-disease +EFO:0007627 airway imaging measurement 04-non-disease +EFO:0007628 gas trapping measurement 04-non-disease +EFO:0007629 hemoglobin A1 measurement 04-non-disease +EFO:0007630 glycerophospholipid measurement 04-non-disease +EFO:0007631 hexose measurement 04-non-disease +EFO:0007632 postprandial hyperlipidemia 01-disease-subtype +EFO:0007633 response to thioamide 04-non-disease +EFO:0007634 major depressive episode 04-non-disease +EFO:0007635 concentration dose ratio 04-non-disease +EFO:0007636 attention function measurement 04-non-disease +EFO:0007639 minimal erythema dose 04-non-disease +EFO:0007645 longitudinal alcohol consumption measurement 04-non-disease +EFO:0007646 amyloid plaque accumulation rate 04-non-disease +EFO:0007647 response to vancomycin 04-non-disease +EFO:0007648 vancomycin trough measurement 04-non-disease +EFO:0007649 renal elimination rate measurement 04-non-disease +EFO:0007650 soluble interleukin-2 receptor subunit alpha measurement 04-non-disease +EFO:0007651 urinary S-phenylmercapturic acid measurement 04-non-disease +EFO:0007655 clusterin measurement 04-non-disease +EFO:0007656 plasma clusterin measurement 04-non-disease +EFO:0007657 cerebrospinal fluid clusterin measurement 04-non-disease +EFO:0007658 carrier status 04-non-disease +EFO:0007659 APOE carrier status 04-non-disease +EFO:0007660 neuroticism measurement 04-non-disease +EFO:0007661 response to lamotrigine 04-non-disease +EFO:0007662 response to triptolide 04-non-disease +EFO:0007663 childhood aggressive behaviour measurement 04-non-disease +EFO:0007664 outer ear morphology trait 04-non-disease +EFO:0007665 ear protrusion 04-non-disease +EFO:0007666 lobe size 04-non-disease +EFO:0007667 lobe attachment 04-non-disease +EFO:0007668 tragus size 04-non-disease +EFO:0007669 antitragus size 04-non-disease +EFO:0007670 helix rolling 04-non-disease +EFO:0007671 folding of antihelix 04-non-disease +EFO:0007672 crus helix expression 04-non-disease +EFO:0007673 superior crus of antihelix expression 04-non-disease +EFO:0007674 Darwin's tubercule 04-non-disease +EFO:0007675 metastasis measurement 04-non-disease +EFO:0007676 response to zileuton 04-non-disease +EFO:0007677 LDL peak particle diameter measurement 04-non-disease +EFO:0007678 total fat intake measurement 04-non-disease +EFO:0007679 oppositional defiant disorder measurement 04-non-disease +EFO:0007680 gait measurement 04-non-disease +EFO:0007681 triglyceride change measurement 04-non-disease +EFO:0007682 response to cetuximab 04-non-disease +EFO:0007683 response to CAPOX-B 04-non-disease +EFO:0007684 response to high fat food intake 04-non-disease +EFO:0007685 trichloroethylene-induced hypersensitivity 04-non-disease +EFO:0007686 surgical shock 04-non-disease +EFO:0007697 left superior temporal gyrus grey matter volume measurement 04-non-disease +EFO:0007698 GBA carrier status 04-non-disease +EFO:0007699 eye movement measurement 04-non-disease +EFO:0007700 exploratory eye movement measurement 04-non-disease +EFO:0007701 spine bone mineral density 04-non-disease +EFO:0007702 hip bone mineral density 04-non-disease +EFO:0007703 hystidil-tRNA synthetase autoantibody measurement 04-non-disease +EFO:0007704 depressive episode measurement 04-non-disease +EFO:0007705 manic episode measurement 04-non-disease +EFO:0007706 manic or hypomanic episode 04-non-disease +EFO:0007707 cerebral amyloid deposition measurement 04-non-disease +EFO:0007708 t-tau:beta-amyloid 1-42 ratio measurement 04-non-disease +EFO:0007709 p-tau:beta-amyloid 1-42 ratio measurement 04-non-disease +EFO:0007710 cognitive decline measurement 04-non-disease +EFO:0007716 carotid artery measurement 04-non-disease +EFO:0007717 carotid artery geometry measurement 04-non-disease +EFO:0007718 carotid artery stiffness measurement 04-non-disease +EFO:0007719 carotid artery external diameter measurement 04-non-disease +EFO:0007720 carotid artery internal diameter measurement 04-non-disease +EFO:0007721 carotid artery central pulse pressure measurement 04-non-disease +EFO:0007722 carotid artery wall cross sectional area measurement 04-non-disease +EFO:0007723 carotid artery mean blood pressure measurement 04-non-disease +EFO:0007724 carotid artery circumferential wall stress measurement 04-non-disease +EFO:0007737 BMI-adjusted adiponectin measurement 04-non-disease +EFO:0007738 cingulate cortex measurement 04-non-disease +EFO:0007739 left superior temporal gyrus thickness measurement 04-non-disease +EFO:0007740 S wave amplitude 04-non-disease +EFO:0007741 R wave amplitude 04-non-disease +EFO:0007742 QRS amplitude 04-non-disease +EFO:0007743 influenza A severity measurement 04-non-disease +EFO:0007744 lung disease severity measurement 04-non-disease +EFO:0007745 lactate measurement 04-non-disease +EFO:0007746 white matter lesion progression measurement 04-non-disease +EFO:0007747 postburn hypertrophic scarring severity measurement 04-non-disease +EFO:0007753 seasonal gut microbiome measurement 04-non-disease +EFO:0007754 response to immunochemotherapy 04-non-disease +EFO:0007755 atopic march 04-non-disease +EFO:0007756 Staphylococcus aureus carrier status 04-non-disease +EFO:0007757 persistent Staphylococcus aureus carrier status 04-non-disease +EFO:0007758 intermittent Staphylococcus aureus carrier status 04-non-disease +EFO:0007759 alpha-linolenic acid measurement 04-non-disease +EFO:0007760 eicosapentaenoic acid measurement 04-non-disease +EFO:0007761 docosahexaenoic acid measurement 04-non-disease +EFO:0007762 gamma-linolenic acid measurement 04-non-disease +EFO:0007763 dihomo-gamma-linolenic acid measurement 04-non-disease +EFO:0007764 delta-5 desaturase measurement 04-non-disease +EFO:0007765 delta-6 desaturase measurement 04-non-disease +EFO:0007766 response to beta blocker 04-non-disease +EFO:0007767 response to calcium channel blocker 04-non-disease +EFO:0007768 response to exercise 04-non-disease +EFO:0007769 thoracic-to-hip circumference ratio measurement 04-non-disease +EFO:0007770 post-operative fentanyl consumption measurement 04-non-disease +EFO:0007771 pathologic complete response measurement 04-non-disease +EFO:0007772 calcaneal bone quantitative ultrasound measurement 04-non-disease +EFO:0007773 cutaneous psoriasis measurement 04-non-disease +EFO:0007774 thrombomodulin measurement 04-non-disease +EFO:0007775 thrombin-antithrombin complex measurement 04-non-disease +EFO:0007776 prothrombin fragments F1+2 measurement 04-non-disease +EFO:0007777 base metabolic rate measurement 04-non-disease +EFO:0007778 urinary albumin to creatinine ratio 04-non-disease +EFO:0007779 response to pazopanib 04-non-disease +EFO:0007780 periodontal measurement 04-non-disease +EFO:0007781 stressful life event measurement 04-non-disease +EFO:0007783 mosaic loss of chromosome Y measurement 04-non-disease +EFO:0007784 functional decline measurement 04-non-disease +EFO:0007785 femoral neck bone mineral density 04-non-disease +EFO:0007786 menstrual cycle measurement 04-non-disease +EFO:0007787 plasma betaine measurement 04-non-disease +EFO:0007788 BMI-adjusted waist-hip ratio 04-non-disease +EFO:0007789 BMI-adjusted waist circumference 04-non-disease +EFO:0007790 Epstein Barr virus nuclear antigen 1 IgG measurement 04-non-disease +EFO:0007791 rheumatoid factor seropositivity measurement 04-non-disease +EFO:0007792 antipsychotic drug use measurement 04-non-disease +EFO:0007793 BMI-adjusted leptin measurement 04-non-disease +EFO:0007794 nicotine metabolite ratio 04-non-disease +EFO:0007795 anxiety disorder measurement 04-non-disease +EFO:0007796 parental longevity 04-non-disease +EFO:0007797 language measurement 04-non-disease +EFO:0007798 linguistic error measurement 04-non-disease +EFO:0007799 syntactic complexity measurement 04-non-disease +EFO:0007800 body fat percentage 04-non-disease +EFO:0007801 lycopene measurement 04-non-disease +EFO:0007802 obsessive-compulsive symptom measurement 04-non-disease +EFO:0007803 emotional symptom measurement 04-non-disease +EFO:0007804 LDL cholesterol change measurement 04-non-disease +EFO:0007805 HDL cholesterol change measurement 04-non-disease +EFO:0007806 total cholesterol change measurement 04-non-disease +EFO:0007807 erythrocyte cadmium measurement 04-non-disease +EFO:0007808 response to bortezomib 04-non-disease +EFO:0007809 response to flupirtine 04-non-disease +EFO:0007810 Plasmodium falciparum antigen IgG1 measurement 04-non-disease +EFO:0007811 Plasmodium falciparum antigen IgG3 measurement 04-non-disease +EFO:0007812 Plasmodium falciparum antigen IgG measurement 04-non-disease +EFO:0007813 cotinine measurement 04-non-disease +EFO:0007814 refractive error measurement 04-non-disease +EFO:0007815 response to dabrafenib 04-non-disease +EFO:0007816 response to trametinib 04-non-disease +EFO:0007817 sleep apnea measurement 04-non-disease +EFO:0007818 athletic endurance measurement 04-non-disease +EFO:0007819 advanced glycation end-product measurement 04-non-disease +EFO:0007821 hair morphology measurement 04-non-disease +EFO:0007822 hair colour measurement 04-non-disease +EFO:0007823 facial hair thickness measurement 04-non-disease +EFO:0007824 hair shape measurement 04-non-disease +EFO:0007825 balding measurement 04-non-disease +EFO:0007826 aggressive behaviour measurement 04-non-disease +EFO:0007827 nighttime rest measurement 04-non-disease +EFO:0007828 daytime rest measurement 04-non-disease +EFO:0007829 eating behaviour 04-non-disease +EFO:0007830 food addiction measurement 04-non-disease +EFO:0007834 liver dysplastic nodule 02-disease-root +EFO:0007835 alcohol dependence measurement 04-non-disease +EFO:0007836 coenzyme Q10 measurement 04-non-disease +EFO:0007837 anti-citrullinated protein antibody seropositivity 04-non-disease +EFO:0007838 response to anti-thyroid drug 04-non-disease +EFO:0007840 pesticide exposure measurement 04-non-disease +EFO:0007841 facial morphology measurement 04-non-disease +EFO:0007842 chin morphology measurement 04-non-disease +EFO:0007843 nose morphology measurement 04-non-disease +EFO:0007844 forehead morphology measurement 04-non-disease +EFO:0007845 lip morphology measurement 04-non-disease +EFO:0007847 cheekbone morphology measurement 04-non-disease +EFO:0007848 apolipoprotein A-IV measurement 04-non-disease +EFO:0007849 functional brain measurement 04-non-disease +EFO:0007850 solar lentigines measurement 04-non-disease +EFO:0007851 seroconversion 04-non-disease +EFO:0007852 thiopurine methyltransferase activity measurement 04-non-disease +EFO:0007853 response to mercaptopurine 04-non-disease +EFO:0007854 knee peak torque measurement 04-non-disease +EFO:0007855 facial width measurement 04-non-disease +EFO:0007856 facial height measurement 04-non-disease +EFO:0007857 facial depth measurement 04-non-disease +EFO:0007858 eye morphology measurement 04-non-disease +EFO:0007859 response to interferon 04-non-disease +EFO:0007860 ADHD symptom measurement 04-non-disease +EFO:0007861 body ratio measurement 04-non-disease +EFO:0007862 reproductive behaviour measurement 04-non-disease +EFO:0007863 illness severity status 04-non-disease +EFO:0007864 sulfate measurement 04-non-disease +EFO:0007865 loneliness measurement 04-non-disease +EFO:0007866 response to rifampicin 04-non-disease +EFO:0007867 response to gefitinib 04-non-disease +EFO:0007868 response to erlotinib 04-non-disease +EFO:0007869 wellbeing measurement 04-non-disease +EFO:0007870 response to norepinephrine-dopamine reuptake inhibitor 04-non-disease +EFO:0007871 response to escitalopram 04-non-disease +EFO:0007872 caffeine metabolite measurement 04-non-disease +EFO:0007873 cartilage thickness measurement 04-non-disease +EFO:0007874 gut microbiome measurement 04-non-disease +EFO:0007875 excessive daytime sleepiness measurement 04-non-disease +EFO:0007876 insomnia measurement 04-non-disease +EFO:0007877 risky sexual behaviour measurement 04-non-disease +EFO:0007878 alcohol consumption measurement 04-non-disease +EFO:0007879 petaloid toenail 04-non-disease +EFO:0007880 response to dendritic cell-based immunotherapy 04-non-disease +EFO:0007881 job-related exhaustion measurement 04-non-disease +EFO:0007882 microbiome measurement 04-non-disease +EFO:0007883 taxonomic microbiome measurement 04-non-disease +EFO:0007884 functional microbiome measurement 04-non-disease +EFO:0007885 JT interval 04-non-disease +EFO:0007886 DDT metabolite measurement 04-non-disease +EFO:0007887 autosomal dominant compelling helio-ophthalmic outburst syndrome 04-non-disease +EFO:0007888 age at voice drop 04-non-disease +EFO:0007889 dysmenorrheic pain measurement 04-non-disease +EFO:0007890 pericardial adipose tissue measurement 04-non-disease +EFO:0007891 skin barrier function measurement 04-non-disease +EFO:0007892 donor genotype effect measurement 04-non-disease +EFO:0007893 alpha-carotene measurement 04-non-disease +EFO:0007894 beta-carotene measurement 04-non-disease +EFO:0007895 lutein measurement 04-non-disease +EFO:0007896 zeaxanthin measurement 04-non-disease +EFO:0007897 cryptoxanthin measurement 04-non-disease +EFO:0007898 alpha-tocopherol measurement 04-non-disease +EFO:0007899 gamma-tocopherol measurement 04-non-disease +EFO:0007900 retinol measurement 04-non-disease +EFO:0007901 hepcidin:ferritin ratio 04-non-disease +EFO:0007902 hepcidin:transferrin saturation ratio 04-non-disease +EFO:0007903 magnesium:calcium ratio 04-non-disease +EFO:0007904 susceptibility to childhood ear infection measurement 04-non-disease +EFO:0007905 joint hypermobility measurement 04-non-disease +EFO:0007906 synophrys measurement 04-non-disease +EFO:0007907 methadone dose measurement 04-non-disease +EFO:0007908 traffic air pollution measurement 04-non-disease +EFO:0007909 CHGA cleavage product measurement 04-non-disease +EFO:0007910 CHGB cleavage product measurement 04-non-disease +EFO:0007911 personality trait measurement 04-non-disease +EFO:0007912 conscientiousness measurement 04-non-disease +EFO:0007913 extraversion measurement 04-non-disease +EFO:0007914 openness measurement 04-non-disease +EFO:0007915 agreeableness measurement 04-non-disease +EFO:0007916 response to tricyclic antidepressant 04-non-disease +EFO:0007917 response to tetracyclic antidepressant 04-non-disease +EFO:0007918 response to anti-tuberculosis drug 04-non-disease +EFO:0007919 response to diclofenac 04-non-disease +EFO:0007920 response to fluoroquinolones 04-non-disease +EFO:0007921 response to nitrofurantoin 04-non-disease +EFO:0007922 response to sulfonylurea 04-non-disease +EFO:0007923 response to terbinafine 04-non-disease +EFO:0007924 tonsillectomy risk measurement 04-non-disease +EFO:0007925 response to paliperidone 04-non-disease +EFO:0007926 hyper-inflammatory immune response 04-non-disease +EFO:0007927 schizophrenia symptom severity measurement 04-non-disease +EFO:0007928 ventricular rate measurement 04-non-disease +EFO:0007929 triglyceride:HDL cholesterol ratio 04-non-disease +EFO:0007930 LDL cholesterol:HDL cholesterol ratio 04-non-disease +EFO:0007931 non-HDL cholesterol:HDL cholesterol ratio 04-non-disease +EFO:0007932 multiple keratinocyte carcinoma susceptibility measurement 04-non-disease +EFO:0007933 radius bone mineral density 04-non-disease +EFO:0007934 creatinine clearance measurement 04-non-disease +EFO:0007935 urinary uric acid to creatinine ratio 04-non-disease +EFO:0007936 disease prognosis measurement 04-non-disease +EFO:0007937 blood protein measurement 04-non-disease +EFO:0007938 coronary atherosclerosis measurement 04-non-disease +EFO:0007939 respiratory symptom measurement 04-non-disease +EFO:0007940 chronic venous insufficiency 04-non-disease +EFO:0007941 LDH-related sciatica symptom severity measurement 04-non-disease +EFO:0007942 hip osteoarthritis symptom severity measurement 04-non-disease +EFO:0007943 response to platinum-based neoadjuvant chemotherapy 04-non-disease +EFO:0007944 allergen exposure measurement 04-non-disease +EFO:0007945 agoraphobia symptom measurement 04-non-disease +EFO:0007946 tiredness measurement 04-non-disease +EFO:0007947 serum galactose-deficient IgA1 measurement 04-non-disease +EFO:0007948 HIV-associated neurocognitive disorder 04-non-disease +EFO:0007949 acute-on-chronic liver failure 01-disease-subtype +EFO:0007955 mouth morphology measurement 04-non-disease +EFO:0007956 monocyte:lymphocyte ratio 04-non-disease +EFO:0007957 urinary 1,3-butadiene measurement 04-non-disease +EFO:0007958 genotype effect measurement 04-non-disease +EFO:0007959 fetal genotype effect measurement 04-non-disease +EFO:0007960 organochlorine pesticide measurement 04-non-disease +EFO:0007961 polybrominated biphenyl measurement 04-non-disease +EFO:0007962 polybrominated diphenyl ether measurement 04-non-disease +EFO:0007963 abnormal paneth cell measurement 04-non-disease +EFO:0007964 gestational serum measurement 04-non-disease +EFO:0007965 response to combination chemotherapy 04-non-disease +EFO:0007966 clopidogrel metabolite measurement 04-non-disease +EFO:0007967 blood osmolality measurement 04-non-disease +EFO:0007968 tissue factor pathway inhibitor measurement 04-non-disease +EFO:0007969 cognitive inhibition measurement 04-non-disease +EFO:0007970 estrone measurement 04-non-disease +EFO:0007971 estrone conjugate measurement 04-non-disease +EFO:0007972 androstenedione measurement 04-non-disease +EFO:0007973 palmitoleic acid measurement 04-non-disease +EFO:0007974 vaccenic acid measurement 04-non-disease +EFO:0007975 gondoic acid measurement 04-non-disease +EFO:0007976 erucic acid measurement 04-non-disease +EFO:0007977 nervonic acid measurement 04-non-disease +EFO:0007978 red blood cell density measurement 04-non-disease +EFO:0007979 childhood trauma measurement 04-non-disease +EFO:0007980 cerebral blood flow measurement 04-non-disease +EFO:0007981 response to thiazide 04-non-disease +EFO:0007982 mild neurocognitive disorder 04-non-disease +EFO:0007983 asymptomatic neurocognitive impairment 04-non-disease +EFO:0007984 platelet component distribution width 04-non-disease +EFO:0007985 platelet crit 04-non-disease +EFO:0007986 reticulocyte count 04-non-disease +EFO:0007987 granulocyte count 04-non-disease +EFO:0007988 myeloid white cell count 04-non-disease +EFO:0007989 monocyte percentage of leukocytes 04-non-disease +EFO:0007990 neutrophil percentage of leukocytes 04-non-disease +EFO:0007991 eosinophil percentage of leukocytes 04-non-disease +EFO:0007992 basophil percentage of leukocytes 04-non-disease +EFO:0007993 lymphocyte percentage of leukocytes 04-non-disease +EFO:0007994 neutrophil percentage of granulocytes 04-non-disease +EFO:0007995 basophil percentage of granulocytes 04-non-disease +EFO:0007996 eosinophil percentage of granulocytes 04-non-disease +EFO:0007997 granulocyte percentage of myeloid white cells 04-non-disease +EFO:0007998 cognitive impairment measurement 04-non-disease +EFO:0007999 lower body strength measurement 04-non-disease +EFO:0008000 peak insulin response measurement 04-non-disease +EFO:0008001 insulin secretion measurement 04-non-disease +EFO:0008002 physical activity measurement 04-non-disease +EFO:0008003 heart rate variability measurement 04-non-disease +EFO:0008004 resting metabolic rate measurement 04-non-disease +EFO:0008005 energy expenditure measurement 04-non-disease +EFO:0008006 skin aging measurement 04-non-disease +EFO:0008007 age at assessment 04-non-disease +EFO:0008008 lower urinary tract symptom 04-non-disease +EFO:0008009 1,5 anhydroglucitol measurement 04-non-disease +EFO:0008010 [Pyruvate dehydrogenase acetyl-transferring] kinase isozyme 1, mitochondrial measurement 04-non-disease +EFO:0008011 a disintegrin and metalloproteinase with thrombospondin motifs 13 04-non-disease +EFO:0008012 Abelson tyrosine-protein kinase 2 measurement 04-non-disease +EFO:0008013 acid sphingomyelinase-like phosphodiesterase 3a measurement 04-non-disease +EFO:0008014 ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 measurement 04-non-disease +EFO:0008015 afamin measurement 04-non-disease +EFO:0008016 Agouti-related protein measurement 04-non-disease +EFO:0008017 alcohol dehydrogenase [NADP+] measurement 04-non-disease +EFO:0008018 alpha-1-antichymotrypsin complex measurement 04-non-disease +EFO:0008019 alpha-1-antichymotrypsin measurement 04-non-disease +EFO:0008020 alpha-2-HS-glycoprotein measurement 04-non-disease +EFO:0008021 alpha-2-macroglobulin receptor-associated protein measurement 04-non-disease +EFO:0008022 angiogenin measurement 04-non-disease +EFO:0008023 angiopoietin-1 receptor, soluble measurement 04-non-disease +EFO:0008024 angiostatin measurement 04-non-disease +EFO:0008025 angiotensinogen measurement 04-non-disease +EFO:0008026 annexin A1 measurement 04-non-disease +EFO:0008027 annexin A2 measurement 04-non-disease +EFO:0008028 apolipoprotein E isoform E2 measurement 04-non-disease +EFO:0008029 apolipoprotein E measurement 04-non-disease +EFO:0008030 arylsulfatase B measurement 04-non-disease +EFO:0008031 aspartate aminotransferase, cytoplasmic measurement 04-non-disease +EFO:0008032 basal cell adhesion molecule measurement 04-non-disease +EFO:0008033 beta-Ala-His dipeptidase measurement 04-non-disease +EFO:0008034 beta-endorphin measurement 04-non-disease +EFO:0008035 beta-nerve growth factor measurement 04-non-disease +EFO:0008036 BMI-adjusted fasting blood glucose measurement 04-non-disease +EFO:0008037 BMI-adjusted fasting blood insulin measurement 04-non-disease +EFO:0008038 BMI-adjusted hip bone size 04-non-disease +EFO:0008039 BMI-adjusted hip circumference 04-non-disease +EFO:0008040 breast cancer anti-estrogen resistance protein 3 measurement 04-non-disease +EFO:0008041 C-C motif chemokine 1 measurement 04-non-disease +EFO:0008042 C-C motif chemokine 14 measurement 04-non-disease +EFO:0008043 C-C motif chemokine 15 measurement 04-non-disease +EFO:0008044 C-C motif chemokine 16 measurement 04-non-disease +EFO:0008045 C-C motif chemokine 17 measurement 04-non-disease +EFO:0008046 C-C motif chemokine 18 measurement 04-non-disease +EFO:0008047 C-C motif chemokine 19 measurement 04-non-disease +EFO:0008048 C-C motif chemokine 21 measurement 04-non-disease +EFO:0008049 C-C motif chemokine 23 measurement 04-non-disease +EFO:0008050 C-C motif chemokine 25 measurement 04-non-disease +EFO:0008051 C-C motif chemokine 3 measurement 04-non-disease +EFO:0008052 C-C motif chemokine 3-like 1 measurement 04-non-disease +EFO:0008053 C-C motif chemokine 5 measurement 04-non-disease +EFO:0008054 C-C motif chemokine 7 measurement 04-non-disease +EFO:0008055 C-C motif chemokine 8 measurement 04-non-disease +EFO:0008056 C-X-C motif chemokine 10 measurement 04-non-disease +EFO:0008057 C-X-C motif chemokine 11 measurement 04-non-disease +EFO:0008058 C-X-C motif chemokine 5 measurement 04-non-disease +EFO:0008059 C-X-C motif chemokine 6 measurement 04-non-disease +EFO:0008060 cadherin-5 measurement 04-non-disease +EFO:0008061 calcineurin measurement 04-non-disease +EFO:0008062 calcium/calmodulin-dependent protein kinase type 1 measurement 04-non-disease +EFO:0008063 calcium/calmodulin-dependent protein kinase type 1D measurement 04-non-disease +EFO:0008064 calpain I measurement 04-non-disease +EFO:0008065 calpastatin measurement 04-non-disease +EFO:0008066 carbohydrate sulfotransferase 15 measurement 04-non-disease +EFO:0008067 carbonic anhydrase 13 measurement 04-non-disease +EFO:0008068 carbonic anhydrase 6 measurement 04-non-disease +EFO:0008069 carboxypeptidase B2 measurement 04-non-disease +EFO:0008070 caspase-3 measurement 04-non-disease +EFO:0008071 catalase measurement 04-non-disease +EFO:0008072 cathepsin B measurement 04-non-disease +EFO:0008073 cathepsin S measurement 04-non-disease +EFO:0008074 cathepsin Z measurement 04-non-disease +EFO:0008075 cation-independent mannose-6-phosphate receptor measurement 04-non-disease +EFO:0008076 CD109 antigen measurement 04-non-disease +EFO:0008077 CD209 antigen measurement 04-non-disease +EFO:0008078 CD27 antigen measurement 04-non-disease +EFO:0008079 cell adhesion molecule-related/down-regulated by oncogenes measurement 04-non-disease +EFO:0008080 cerebrospinal fluid volume measurement 04-non-disease +EFO:0008081 cGMP-specific 3',5'-cyclic phosphodiesterase measurement 04-non-disease +EFO:0008082 chemokine (C-C motif) ligand 27 measurement 04-non-disease +EFO:0008083 chemokine (C-X-C motif) ligand 1 measurement 04-non-disease +EFO:0008084 chitotriosidase-1 measurement 04-non-disease +EFO:0008085 Ck-beta-8-1 measurement 04-non-disease +EFO:0008086 CMRF35-like molecule 6 measurement 04-non-disease +EFO:0008087 coagulation factor V measurement 04-non-disease +EFO:0008088 collectin-11 measurement 04-non-disease +EFO:0008089 complement C1q subcomponent measurement 04-non-disease +EFO:0008090 complement C1r subcomponent measurement 04-non-disease +EFO:0008091 complement C1s subcomponent measurement 04-non-disease +EFO:0008092 complement C4b measurement 04-non-disease +EFO:0008093 complement component C7 measurement 04-non-disease +EFO:0008094 complement component C8 measurement 04-non-disease +EFO:0008095 complement decay-accelerating factor measurement 04-non-disease +EFO:0008096 complement factor B measurement 04-non-disease +EFO:0008097 complement factor H measurement 04-non-disease +EFO:0008098 complement factor H-related protein 5 measurement 04-non-disease +EFO:0008099 complement factor I measurement 04-non-disease +EFO:0008100 contactin-2 measurement 04-non-disease +EFO:0008101 contactin-5 measurement 04-non-disease +EFO:0008102 copine-1 measurement 04-non-disease +EFO:0008103 cystatin-D measurement 04-non-disease +EFO:0008104 cystatin-F measurement 04-non-disease +EFO:0008105 cystatin-SA measurement 04-non-disease +EFO:0008106 cystatin-SN measurement 04-non-disease +EFO:0008107 death-associated protein kinase 2 measurement 04-non-disease +EFO:0008108 dermatopontin measurement 04-non-disease +EFO:0008109 Dickkopf-related protein 3 measurement 04-non-disease +EFO:0008110 Dickkopf-related protein 4 measurement 04-non-disease +EFO:0008111 diet measurement 04-non-disease +EFO:0008112 dual specificity mitogen-activated protein kinase kinase 2 measurement 04-non-disease +EFO:0008113 dual specificity mitogen-activated protein kinase kinase 4 measurement 04-non-disease +EFO:0008114 dynein light chain roadblock-type 1 measurement 04-non-disease +EFO:0008115 ectonucleoside triphosphate diphosphohydrolase 5 measurement 04-non-disease +EFO:0008116 EGF-like module-containing mucin-like hormone receptor-like 2 measurement 04-non-disease +EFO:0008117 elafin measurement 04-non-disease +EFO:0008118 endoglin measurement 04-non-disease +EFO:0008119 endoplasmic reticulum aminopeptidase 1 measurement 04-non-disease +EFO:0008120 endothelial cell-selective adhesion molecule measurement 04-non-disease +EFO:0008121 endothelin-converting enzyme 1 measurement 04-non-disease +EFO:0008122 eotaxin measurement 04-non-disease +EFO:0008123 ephrin type-A receptor 1 measurement 04-non-disease +EFO:0008124 ephrin type-B receptor 2 measurement 04-non-disease +EFO:0008125 estrogen receptor measurement 04-non-disease +EFO:0008126 extracellular matrix protein 1 measurement 04-non-disease +EFO:0008127 Fc receptor-like protein 3 measurement 04-non-disease +EFO:0008128 fetuin-B measurement 04-non-disease +EFO:0008129 fibroblast growth factor 2 measurement 04-non-disease +EFO:0008130 fibroblast growth factor basic measurement 04-non-disease +EFO:0008131 fibronectin fragment 3 measurement 04-non-disease +EFO:0008132 fibronectin fragment 4 measurement 04-non-disease +EFO:0008133 fibronectin measurement 04-non-disease +EFO:0008134 ficolin-1 measurement 04-non-disease +EFO:0008135 ficolin-2 measurement 04-non-disease +EFO:0008136 galactoside 34-L-fucosyltransferase measurement 04-non-disease +EFO:0008137 galectin-3 measurement 04-non-disease +EFO:0008138 GDNF family receptor alpha-2 measurement 04-non-disease +EFO:0008139 glypican-5 measurement 04-non-disease +EFO:0008140 gp41 C34 peptide, HIV measurement 04-non-disease +EFO:0008141 granulins measurement 04-non-disease +EFO:0008142 granulocyte colony-stimulating factor measurement 04-non-disease +EFO:0008144 granulysin measurement 04-non-disease +EFO:0008145 granzyme A measurement 04-non-disease +EFO:0008146 growth-regulated alpha protein measurement 04-non-disease +EFO:0008148 hemojuvelin measurement 04-non-disease +EFO:0008149 hemopexin measurement 04-non-disease +EFO:0008150 heparin cofactor 2 measurement 04-non-disease +EFO:0008151 hepatitis A virus cellular receptor 2 measurement 04-non-disease +EFO:0008152 hepatocyte growth factor activator measurement 04-non-disease +EFO:0008153 hepatocyte growth factor receptor measurement 04-non-disease +EFO:0008154 hepatocyte growth factor-like protein measurement 04-non-disease +EFO:0008155 histidine-rich glycoprotein measurement 04-non-disease +EFO:0008156 human Chorionic Gonadotropin measurement 04-non-disease +EFO:0008157 inorganic pyrophosphatase measurement 04-non-disease +EFO:0008158 inosine-5'-monophosphate dehydrogenase 1 measurement 04-non-disease +EFO:0008159 inosine-5'-monophosphate dehydrogenase 2 measurement 04-non-disease +EFO:0008160 insulin receptor measurement 04-non-disease +EFO:0008161 insulin-like growth factor-binding protein 7 measurement 04-non-disease +EFO:0008162 integrin alpha-I: beta-1 complex measurement 04-non-disease +EFO:0008163 intercellular adhesion molecule 2 measurement 04-non-disease +EFO:0008164 intercellular adhesion molecule 5 measurement 04-non-disease +EFO:0008165 interferon gamma measurement 04-non-disease +EFO:0008167 interleukin 1 Receptor accessory protein measurement 04-non-disease +EFO:0008168 interleukin 1 receptor-like 1 measurement 04-non-disease +EFO:0008169 interleukin 1 receptor-like 2 measurement 04-non-disease +EFO:0008170 interleukin 12 receptor subunit beta-1 measurement 04-non-disease +EFO:0008171 interleukin 13 measurement 04-non-disease +EFO:0008172 interleukin 15 receptor subunit alpha measurement 04-non-disease +EFO:0008173 interleukin 16 measurement 04-non-disease +EFO:0008174 interleukin 17 measurement 04-non-disease +EFO:0008175 interleukin 17 receptor A measurement 04-non-disease +EFO:0008176 interleukin 17 receptor B measurement 04-non-disease +EFO:0008177 interleukin 17 receptor D measurement 04-non-disease +EFO:0008178 interleukin 18 receptor 1 measurement 04-non-disease +EFO:0008179 interleukin 18 receptor accessory protein measurement 04-non-disease +EFO:0008180 interleukin 19 measurement 04-non-disease +EFO:0008181 interleukin 23 receptor measurement 04-non-disease +EFO:0008182 interleukin 25 measurement 04-non-disease +EFO:0008183 interleukin 27 receptor subunit alpha measurement 04-non-disease +EFO:0008184 interleukin 4 measurement 04-non-disease +EFO:0008185 interleukin 5 measurement 04-non-disease +EFO:0008186 interleukin 5 receptor subunit alpha measurement 04-non-disease +EFO:0008187 interleukin 6 receptor subunit alpha measurement 04-non-disease +EFO:0008188 interleukin 6 receptor subunit beta measurement 04-non-disease +EFO:0008189 interleukin 7 measurement 04-non-disease +EFO:0008190 interleukin 7 receptor subunit alpha measurement 04-non-disease +EFO:0008191 interleukin 8 measurement 04-non-disease +EFO:0008192 interleukin 9 measurement 04-non-disease +EFO:0008193 interstitial collagenase measurement 04-non-disease +EFO:0008194 kallikrein-12 measurement 04-non-disease +EFO:0008195 kallikrein-7 measurement 04-non-disease +EFO:0008196 kallistatin measurement 04-non-disease +EFO:0008197 killer cell immunoglobulin-like receptor 2DL4 measurement 04-non-disease +EFO:0008198 kininogen-1 measurement 04-non-disease +EFO:0008199 Kunitz-type protease inhibitor 1 measurement 04-non-disease +EFO:0008200 Kunitz-type protease inhibitor 2 measurement 04-non-disease +EFO:0008201 kynureninase measurement 04-non-disease +EFO:0008202 L-Selectin measurement 04-non-disease +EFO:0008203 lactadherin measurement 04-non-disease +EFO:0008204 left ventricular diastolic function measurement 04-non-disease +EFO:0008205 left ventricular structural measurement 04-non-disease +EFO:0008206 left ventricular systolic function measurement 04-non-disease +EFO:0008207 leucine carboxyl methyltransferase 1 measurement 04-non-disease +EFO:0008208 leukocyte immunoglobulin-like receptor subfamily B member 1 measurement 04-non-disease +EFO:0008209 leukocyte immunoglobulin-like receptor subfamily B member 2 measurement 04-non-disease +EFO:0008210 low affinity immunoglobulin epsilon Fc receptor measurement 04-non-disease +EFO:0008211 low affinity immunoglobulin gamma Fc region receptor II-a/b measurement 04-non-disease +EFO:0008212 low affinity immunoglobulin gamma Fc region receptor III-B measurement 04-non-disease +EFO:0008213 low molecular weight phosphotyrosine protein phosphatase measurement 04-non-disease +EFO:0008214 lymphotactin measurement 04-non-disease +EFO:0008215 lysosomal protective protein measurement 04-non-disease +EFO:0008216 lysozyme C measurement 04-non-disease +EFO:0008217 macrophage colony stimulating factor measurement 04-non-disease +EFO:0008218 macrophage inflammatory protein 1a measurement 04-non-disease +EFO:0008219 macrophage inflammatory protein 1b measurement 04-non-disease +EFO:0008220 macrophage metalloelastase measurement 04-non-disease +EFO:0008221 macrophage migration inhibitory factor measurement 04-non-disease +EFO:0008222 macrophage scavenger receptor types I and II measurement 04-non-disease +EFO:0008223 mannan-binding lectin serine protease 1 measurement 04-non-disease +EFO:0008224 mannose-binding protein C measurement 04-non-disease +EFO:0008225 MAP kinase-activated protein kinase 2 measurement 04-non-disease +EFO:0008226 MAP kinase-activated protein kinase 3 measurement 04-non-disease +EFO:0008227 matrilysin measurement 04-non-disease +EFO:0008228 mediator of RNA polymerase II transcription subunit 1 measurement 04-non-disease +EFO:0008229 melanoma-derived growth regulatory protein measurement 04-non-disease +EFO:0008230 mental development measurement 04-non-disease +EFO:0008231 metalloproteinase inhibitor 3 measurement 04-non-disease +EFO:0008232 methionine aminopeptidase 2 measurement 04-non-disease +EFO:0008233 MHC class I polypeptide-related sequence A measurement 04-non-disease +EFO:0008234 MHC class I polypeptide-related sequence B measurement 04-non-disease +EFO:0008235 monocyte chemotactic protein 3 measurement 04-non-disease +EFO:0008236 monokine induced by gamma interferon measurement 04-non-disease +EFO:0008237 motor development measurement 04-non-disease +EFO:0008238 myeloid cell surface antigen CD33 measurement 04-non-disease +EFO:0008239 N-acetyl-D-glucosamine kinase measurement 04-non-disease +EFO:0008240 N-acylethanolamine-hydrolyzing acid amidase measurement 04-non-disease +EFO:0008241 NAD-dependent protein deacetylase sirtuin-2 measurement 04-non-disease +EFO:0008242 NADPH--cytochrome P450 reductase measurement 04-non-disease +EFO:0008243 natural cytotoxicity triggering receptor 3 measurement 04-non-disease +EFO:0008244 neurexophilin-1 measurement 04-non-disease +EFO:0008245 neurodevelopmental measurement 04-non-disease +EFO:0008246 neurogenic locus notch homolog protein 1 measurement 04-non-disease +EFO:0008247 neutral ceramidase measurement 04-non-disease +EFO:0008248 neutrophil collagenase measurement 04-non-disease +EFO:0008249 nidogen-1 measurement 04-non-disease +EFO:0008250 NKG2-D type II integral membrane protein measurement 04-non-disease +EFO:0008251 non-receptor tyrosine-protein kinase TYK2 measurement 04-non-disease +EFO:0008252 OCIA domain-containing protein 1 measurement 04-non-disease +EFO:0008253 OX-2 membrane glycoprotein measurement 04-non-disease +EFO:0008254 P-Selectin measurement 04-non-disease +EFO:0008255 particulate matter air pollution measurement 04-non-disease +EFO:0008256 peptidyl-prolyl cis-trans isomerase D measurement 04-non-disease +EFO:0008257 peptidyl-prolyl cis-trans isomerase E measurement 04-non-disease +EFO:0008258 persulfide dioxygenase ETHE1, mitochondrial measurement 04-non-disease +EFO:0008259 phospholipase A2, membrane associated measurement 04-non-disease +EFO:0008260 plasma kallikrein measurement 04-non-disease +EFO:0008261 plasma protease C1 inhibitor measurement 04-non-disease +EFO:0008262 platelet glycoprotein 4 measurement 04-non-disease +EFO:0008263 platelet glycoprotein VI measurement 04-non-disease +EFO:0008264 platelet-derived growth factor BB measurement 04-non-disease +EFO:0008265 platelet-derived growth factor receptor beta measurement 04-non-disease +EFO:0008266 plexin-C1 measurement 04-non-disease +EFO:0008267 polymeric immunoglobulin receptor measurement 04-non-disease +EFO:0008268 programmed cell death 1 ligand 2 measurement 04-non-disease +EFO:0008269 properdin measurement 04-non-disease +EFO:0008270 proprotein convertase subtilisin/kexin type 7 measurement 04-non-disease +EFO:0008271 protein jagged-1 measurement 04-non-disease +EFO:0008272 proto-oncogene tyrosine-protein kinase receptor Ret measurement 04-non-disease +EFO:0008273 repulsive guidance molecule A measurement 04-non-disease +EFO:0008274 retinoic acid receptor responder protein 2 measurement 04-non-disease +EFO:0008275 S-formylglutathione hydrolase measurement 04-non-disease +EFO:0008276 scavenger receptor class F member 1 measurement 04-non-disease +EFO:0008277 Secreted frizzled-related protein 3 measurement 04-non-disease +EFO:0008278 semaphorin-3A measurement 04-non-disease +EFO:0008279 semaphorin-3E measurement 04-non-disease +EFO:0008280 serine protease 27 measurement 04-non-disease +EFO:0008281 serine/threonine-protein kinase 17B measurement 04-non-disease +EFO:0008282 serum amyloid A-1 protein measurement 04-non-disease +EFO:0008283 serum amyloid P-component measurement 04-non-disease +EFO:0008284 sialic acid-binding Ig-like lectin 14 measurement 04-non-disease +EFO:0008285 sialic acid-binding Ig-like lectin 6 measurement 04-non-disease +EFO:0008286 sialic acid-binding Ig-like lectin 9 measurement 04-non-disease +EFO:0008287 SLAM family member 7 measurement 04-non-disease +EFO:0008288 small nuclear ribonucleoprotein F measurement 04-non-disease +EFO:0008289 SPARC-like protein 1 measurement 04-non-disease +EFO:0008290 spondin-1 measurement 04-non-disease +EFO:0008291 stem Cell Factor measurement 04-non-disease +EFO:0008292 stem Cell Growth Factor beta measurement 04-non-disease +EFO:0008293 stromal cell-derived factor 1 alpha measurement 04-non-disease +EFO:0008294 superoxide dismutase [Mn], mitochondrial measurement 04-non-disease +EFO:0008295 T-lymphocyte surface antigen Ly-9 measurement 04-non-disease +EFO:0008296 tenascin measurement 04-non-disease +EFO:0008297 teratocarcinoma-derived growth factor 1 measurement 04-non-disease +EFO:0008298 thioredoxin domain-containing protein 12 measurement 04-non-disease +EFO:0008299 thrombospondin-2 measurement 04-non-disease +EFO:0008300 TNF-related apoptosis-inducing ligand measurement 04-non-disease +EFO:0008301 toll-like receptor 4:Lymphocyte antigen 96 complex measurement 04-non-disease +EFO:0008302 transforming growth factor-beta-induced protein ig-h3 measurement 04-non-disease +EFO:0008303 transmembrane glycoprotein NMB measurement 04-non-disease +EFO:0008304 trefoil factor 3 measurement 04-non-disease +EFO:0008305 trypsin-2 measurement 04-non-disease +EFO:0008306 tryptase beta-2 measurement 04-non-disease +EFO:0008307 tuberculin skin test reactivity measurement 04-non-disease +EFO:0008308 tumor necrosis factor beta measurement 04-non-disease +EFO:0008309 tumor necrosis factor receptor superfamily member 19L measurement 04-non-disease +EFO:0008310 tumor necrosis factor receptor superfamily member EDAR measurement 04-non-disease +EFO:0008311 tumor necrosis factor-inducible gene 6 protein measurement 04-non-disease +EFO:0008312 tyrosine-protein kinase receptor Tie-1, soluble measurement 04-non-disease +EFO:0008313 UMP-CMP kinase measurement 04-non-disease +EFO:0008314 vascular endothelial growth factor receptor 2 measurement 04-non-disease +EFO:0008315 vascular endothelial growth factor receptor 3 measurement 04-non-disease +EFO:0008316 vaso-occlusive pain measurement 04-non-disease +EFO:0008317 very low density lipoprotein cholesterol measurement 04-non-disease +EFO:0008318 vitamin K-dependent protein C measurement 04-non-disease +EFO:0008319 WAP, Kazal, immunoglobulin, Kunitz and NTR domain-containing protein 2 measurement 04-non-disease +EFO:0008320 white matter volume measurement 04-non-disease +EFO:0008321 WNT1-inducible-signaling pathway protein 1 measurement 04-non-disease +EFO:0008322 decreased susceptibility to bacterial infection 04-non-disease +EFO:0008323 hypocretin deficiency 04-non-disease +EFO:0008324 response to sulfasalazine 04-non-disease +EFO:0008325 response to sotalol 04-non-disease +EFO:0008326 a disintegrin and metalloproteinase with thrombospondin motifs 5 measurement 04-non-disease +EFO:0008327 alpha-1-antitrypsin measurement 04-non-disease +EFO:0008328 chronotype measurement 04-non-disease +EFO:0008329 facial emotion recognition measurement 04-non-disease +EFO:0008330 fear of pain measurement 04-non-disease +EFO:0008331 interleukin 2 measurement 04-non-disease +EFO:0008332 interleukin 2 receptor antagonist measurement 04-non-disease +EFO:0008333 T wave amplitude 04-non-disease +EFO:0008334 TpTe measurement 04-non-disease +EFO:0008335 ventricular repolarisation duration measurement 04-non-disease +EFO:0008336 disease progression measurement 04-non-disease +EFO:0008337 psychosis predisposition measurement 04-non-disease +EFO:0008338 fear of severe pain measurement 04-non-disease +EFO:0008339 fear of medical pain measurement 04-non-disease +EFO:0008340 fear of minor pain measurement 04-non-disease +EFO:0008341 snoring measurement 04-non-disease +EFO:0008342 parental emotion expression measurmement 04-non-disease +EFO:0008343 sex interaction measurement 04-non-disease +EFO:0008344 response to placebo 04-non-disease +EFO:0008345 response to duloxetine 04-non-disease +EFO:0008347 response to trastuzumab 04-non-disease +EFO:0008348 response to ranibizumab 04-non-disease +EFO:0008349 thiazide-induced hyponatremia 04-non-disease +EFO:0008350 alpha-linoleic acid measurement 04-non-disease +EFO:0008351 amyloid deposition measurement 04-non-disease +EFO:0008352 C9orf72 mutation status 04-non-disease +EFO:0008353 cellular adhesion molecule measurement 04-non-disease +EFO:0008354 cognitive function measurement 04-non-disease +EFO:0008355 dietary heme iron intake measurement 04-non-disease +EFO:0008356 dihomo-gamma-linoleic acid measurement 04-non-disease +EFO:0008357 docosatetranoic acid measurement 04-non-disease +EFO:0008358 dorsolateral prefrontal cortex functional measurement 04-non-disease +EFO:0008359 eicosadienoic acid measurement 04-non-disease +EFO:0008360 environmental exposure measurement 04-non-disease +EFO:0008361 environmental tobacco smoke exposure measurement 04-non-disease +EFO:0008362 farm exposure measurement 04-non-disease +EFO:0008363 gamma-linoleic acid measurement 04-non-disease +EFO:0008364 generational effect measurement 04-non-disease +EFO:0008365 heart amyloid deposition measurement 04-non-disease +EFO:0008366 IgG isotype profile measurement 04-non-disease +EFO:0008367 infant cerebrospinal fluid volume measurement 04-non-disease +EFO:0008368 infant grey matter volume measurement 04-non-disease +EFO:0008369 infant intracranial volume measurement 04-non-disease +EFO:0008370 infant white matter volume measurement 04-non-disease +EFO:0008371 kidney amyloid deposition measurement 04-non-disease +EFO:0008372 laterality measurement 04-non-disease +EFO:0008373 left ventricular ejection fraction measurement 04-non-disease +EFO:0008374 liver amyloid deposition measurement 04-non-disease +EFO:0008375 macula measurement 04-non-disease +EFO:0008376 mosquito bite measurement 04-non-disease +EFO:0008377 mosquito bite reaction itch intensity measurement 04-non-disease +EFO:0008378 mosquito bite reaction size measurement 04-non-disease +EFO:0008379 P wave terminal force measurement 04-non-disease +EFO:0008380 perceived unattractiveness to mosquitos measurement 04-non-disease +EFO:0008381 total cortical area measurement 04-non-disease +EFO:0008382 TP53 mutation status 04-non-disease +EFO:0008383 treatment outcome measurement 04-non-disease +EFO:0008384 tumor necrosis factor receptor II measurement 04-non-disease +EFO:0008385 visual acuity measurement 04-non-disease +EFO:0008386 body odor measurement 04-non-disease +EFO:0008387 caudate nucleus measurement 04-non-disease +EFO:0008388 gamma wave measurement 04-non-disease +EFO:0008389 putamen measurement 04-non-disease +EFO:0008390 prothrombin time measurement 04-non-disease +EFO:0008391 erythropoetin measurement 04-non-disease +EFO:0008392 triiodothyronine measurement 04-non-disease +EFO:0008393 reaction time measurement 04-non-disease +EFO:0008394 verbal-numerical reasoning measurement 04-non-disease +EFO:0008395 response to darapladib 04-non-disease +EFO:0008396 response to reward 04-non-disease +EFO:0008397 response to disappointment 04-non-disease +EFO:0008398 T wave morphology measurement 04-non-disease +EFO:0008399 mean fractional anisotropy measurement 04-non-disease +EFO:0008400 susceptibility to chickenpox measurement 04-non-disease +EFO:0008401 susceptibility to shingles measurement 04-non-disease +EFO:0008402 susceptibility to cold sores measurement 04-non-disease +EFO:0008403 susceptibility to mononucleosis measurement 04-non-disease +EFO:0008404 susceptibility to mumps measurement 04-non-disease +EFO:0008405 susceptibility to hepatitis B infection measurement 04-non-disease +EFO:0008406 susceptibility to plantar warts measurement 04-non-disease +EFO:0008407 susceptibility to Mycobacterium tuberculosis infection measurement 04-non-disease +EFO:0008408 susceptibility to strep throat measurement 04-non-disease +EFO:0008409 susceptibility to scarlet fever measurement 04-non-disease +EFO:0008410 susceptibility to pneumonia measurement 04-non-disease +EFO:0008411 susceptibility to bacterial meningitis measurement 04-non-disease +EFO:0008412 susceptibility to vaginal yeast infection measurement 04-non-disease +EFO:0008413 susceptibility to urinary tract infection measurement 04-non-disease +EFO:0008414 susceptibility to measles measurement 04-non-disease +EFO:0008415 susceptibility to hepatitis A infection measurement 04-non-disease +EFO:0008416 susceptibility to rheumatic fever measurement 04-non-disease +EFO:0008417 susceptibility to common cold measurement 04-non-disease +EFO:0008418 susceptibility to rubella infection measurement 04-non-disease +EFO:0008419 susceptibility to chronic sinus infection measurement 04-non-disease +EFO:0008420 parietal cortex measurement 04-non-disease +EFO:0008421 non-alcoholic fatty liver disease severity measurement 04-non-disease +EFO:0008422 susceptibility to infectious disease measurement 04-non-disease +EFO:0008423 IgG monogalactosylation measurement 04-non-disease +EFO:0008424 IgG digalactosylation measurement 04-non-disease +EFO:0008425 IgG galactosylation measurement 04-non-disease +EFO:0008426 IgG bisecting N-acetyl glucosamine measurement 04-non-disease +EFO:0008427 IgG fucosylation measurement 04-non-disease +EFO:0008428 IgG sialylation measurement 04-non-disease +EFO:0008429 IgG disialylation measurement 04-non-disease +EFO:0008430 IgG monosialylation measurement 04-non-disease +EFO:0008431 maximal voluntary ventilation 04-non-disease +EFO:0008432 lipoprotein-associated phospholipase A(2) change measurement 04-non-disease +EFO:0008433 pursuit maintenance gain measurement 04-non-disease +EFO:0008434 initial pursuit acceleration 04-non-disease +EFO:0008435 gestational weight gain measurement 04-non-disease +EFO:0008436 late gestational weight gain 04-non-disease +EFO:0008437 early gestational weight gain 04-non-disease +EFO:0008438 growth hormone measurement 04-non-disease +EFO:0008446 platelet-to-lymphocyte ratio 04-non-disease +EFO:0008447 neutrophil-to-lymphocyte ratio 04-non-disease +EFO:0008449 magnesium:creatinine ratio measurement 04-non-disease +EFO:0008450 fractional excretion of magnesium measurement 04-non-disease +EFO:0008451 activities of daily living score measurement 04-non-disease +EFO:0008452 mid-arm muscle circumference measurement 04-non-disease +EFO:0008453 calf circumference measurement 04-non-disease +EFO:0008454 short physical performance battery score measurement 04-non-disease +EFO:0008455 sleep apnea measurement during REM sleep 04-non-disease +EFO:0008456 sleep apnea measurement during non-REM sleep 04-non-disease +EFO:0008457 cannabis dependence measurement 04-non-disease +EFO:0008458 tacrolimus measurement 04-non-disease +EFO:0008459 response to mepolizumab 04-non-disease +EFO:0008462 pregnancy induced alloimmunization 04-non-disease +EFO:0008463 glucagon measurement 04-non-disease +EFO:0008464 glucose-dependent insulinotropic peptide measurement 04-non-disease +EFO:0008465 glucagon-like peptide-1 measurement 04-non-disease +EFO:0008466 matrix metalloproteinase 8 measurement 04-non-disease +EFO:0008467 behavioural inhibitory control measurement 04-non-disease +EFO:0008468 midregional pro atrial natriuretic peptide measurement 04-non-disease +EFO:0008469 B-type natriuretic peptide to N-terminal pro B-type natriuretic peptide ratio 04-non-disease +EFO:0008470 dietary potassium intake measurement 04-non-disease +EFO:0008471 cardiac stress biomarker measurement 04-non-disease +EFO:0008473 insulin response measurement 04-non-disease +EFO:0008474 spine bone mineral density change measurement 04-non-disease +EFO:0008475 mood instability measurement 04-non-disease +EFO:0008476 delayed reward discounting measurement 04-non-disease +EFO:0008483 response to trauma exposure 04-non-disease +EFO:0008484 response to carbamazepine 04-non-disease +EFO:0008485 homosexuality 04-non-disease +EFO:0008486 male homosexuality 04-non-disease +EFO:0008487 lateral ventricle volume measurement 04-non-disease +EFO:0008490 ampulla of Vater adenocarcinoma 01-disease-subtype +EFO:0008491 atypical ductal hyperplasia 01-disease-subtype +EFO:0008492 breast hyperplasia 02-disease-root +EFO:0008493 cerebral small vessel disease 03-disease-area +EFO:0008494 Chikungunya encephalitis 02-disease-root +EFO:0008495 childhood supratentorial ependymoma 01-disease-subtype +EFO:0008496 chronic hepatitis 04-non-disease +EFO:0008497 chronic lung allograft dysfunction 02-disease-root +EFO:0008498 clear cell sarcoma 02-disease-root +EFO:0008499 DNA repair deficiency 03-disease-area +EFO:0008500 ductal breast hyperplasia 01-disease-subtype +EFO:0008501 dysplasia 02-disease-root +EFO:0008502 gastric non-cardia carcinoma 01-disease-subtype +EFO:0008503 hepatitis B virus induced hepatocellular carcinoma 01-disease-subtype +EFO:0008504 hepatitis C virus induced hepatocellular carcinoma 01-disease-subtype +EFO:0008505 hepatitis virus-related hepatocellular carcinoma 01-disease-subtype +EFO:0008506 hyperparathyroidism 03-disease-area +EFO:0008507 interstitial cystitis 01-disease-subtype +EFO:0008508 large cell medulloblastoma 01-disease-subtype +EFO:0008509 lobular breast carcinoma 01-disease-subtype +EFO:0008510 Lyme disease 01-disease-subtype +EFO:0008511 metopic craniosynostosis 02-disease-root +EFO:0008512 micropapillary urothelial carcinoma 01-disease-subtype +EFO:0008513 morphologic finding 04-non-disease +EFO:0008514 neurofibromatosis 02-disease-root +EFO:0008515 nodular melanoma 01-disease-subtype +EFO:0008516 non-functioning pituitary adenoma 02-disease-root +EFO:0008517 oral lichen planus 01-disease-subtype +EFO:0008518 polymyalgia rheumatica 02-disease-root +EFO:0008519 primary hyperparathyroidism 02-disease-root +EFO:0008520 primary progressive multiple sclerosis 01-disease-subtype +EFO:0008521 rhinitis 03-disease-area +EFO:0008522 secondary progressive multiple sclerosis 01-disease-subtype +EFO:0008523 sessile serrated polyp 02-disease-root +EFO:0008524 small cell carcinoma 03-disease-area +EFO:0008525 spinal muscular atrophy 03-disease-area +EFO:0008526 status epilepticus 01-disease-subtype +EFO:0008527 steatosis 04-non-disease +EFO:0008528 urothelial carcinoma 03-disease-area +EFO:0008529 kynurenine measurement 04-non-disease +EFO:0008530 kynurenine:tryptophan ratio 04-non-disease +EFO:0008531 GLP-1-stimulated insulin response 04-non-disease +EFO:0008532 clinically amyopathic dermatomyositis 01-disease-subtype +EFO:0008533 dyspepsia 02-disease-root +EFO:0008534 tryptophan measurement 04-non-disease +EFO:0008535 post-traumatic stress disorder symptom measurement 04-non-disease +EFO:0008536 anti-centromere-antibody-positive systemic scleroderma 01-disease-subtype +EFO:0008537 anti-topoisomerase-I-antibody-positive systemic scleroderma 01-disease-subtype +EFO:0008538 helping behavior measurement 04-non-disease +EFO:0008539 vitamin D dietary intake measurement 04-non-disease +EFO:0008540 helping behaviour 04-non-disease +EFO:0008541 response to opioid 04-non-disease +EFO:0008542 complement C3d subcomponent measurement 04-non-disease +EFO:0008543 c3d:C3 ratio 04-non-disease +EFO:0008544 analgesia requirement measurement 04-non-disease +EFO:0008545 Malignant Breast Phyllodes Tumor 01-disease-subtype +EFO:0008546 poisoning 04-non-disease +EFO:0008549 digestive system neoplasm 03-disease-area +EFO:0008550 Hepatobiliary Neoplasm 03-disease-area +EFO:0008553 femur fracture 02-disease-root +EFO:0008555 Methicillin-Resistant Staphylococcus Aureus Infection 01-disease-subtype +EFO:0008556 Methicillin-Resistant Staphylococcus Aureus Pneumonia 01-disease-subtype +EFO:0008557 Methicillin-Susceptible Staphylococcus Aureus Infection 01-disease-subtype +EFO:0008558 Vancomycin-Resistant Staphylococcus Aureus Infection 01-disease-subtype +EFO:0008559 American trypanosomiasis 01-disease-subtype +EFO:0008560 female infertility 03-disease-area +EFO:0008561 diaphragmatic hernia 04-non-disease +EFO:0008568 Sleep Disorder 03-disease-area +EFO:0008569 Thiamine deficiency 04-non-disease +EFO:0008570 Vitamin B3 deficiency 04-non-disease +EFO:0008571 viral conjunctivitis 01-disease-subtype +EFO:0008572 malnutrition 02-disease-root +EFO:0008573 alcoholic liver disease 03-disease-area +EFO:0008574 gangrene 04-non-disease +EFO:0008576 Spinal Osteochondrosis 02-disease-root +EFO:0008577 Juvenile Osteochondrosis 02-disease-root +EFO:0008578 sperm motility measurement 04-non-disease +EFO:0008579 risk-taking behaviour 04-non-disease +EFO:0008580 response to taxane 04-non-disease +EFO:0008581 salivary gland disease 03-disease-area +EFO:0008582 thrombin activatable fibrinolysis inhibitor activation peptide measurement 04-non-disease +EFO:0008583 acute myocardial infarction 01-disease-subtype +EFO:0008584 Subsequent ST elevation (STEMI) and non-ST elevation (NSTEMI) myocardial infarction 01-disease-subtype +EFO:0008585 ST Elevation Myocardial Infarction 01-disease-subtype +EFO:0008586 Non-ST Elevation Myocardial Infarction 01-disease-subtype +EFO:0008587 gender identity disorder 02-disease-root +EFO:0008588 peritonitis 02-disease-root +EFO:0008589 esterified cholesterol measurement 04-non-disease +EFO:0008590 Status Asthmaticus 01-disease-subtype +EFO:0008591 free cholesterol measurement 04-non-disease +EFO:0008592 high density lipoprotein particle size measurement 04-non-disease +EFO:0008593 low density lipoprotein particle size measurement 04-non-disease +EFO:0008594 very low density lipoprotein particle size measurement 04-non-disease +EFO:0008595 intermediate density lipoprotein measurement 04-non-disease +EFO:0008596 chylomicron measurement 04-non-disease +EFO:0008597 anti-p200 pemphigoid 02-disease-root +EFO:0008598 autoimmune bullous skin disease 03-disease-area +EFO:0008601 pemphigus foliaceus 01-disease-subtype +EFO:0008602 paraneoplastic pemphigus 01-disease-subtype +EFO:0008603 pemphigus erythematosus 01-disease-subtype +EFO:0008604 IgA pemphigus 01-disease-subtype +EFO:0008605 IgG/IgA pemphigus 01-disease-subtype +EFO:0008606 pemphigus herpetiformis 01-disease-subtype +EFO:0008607 drug-induced pemphigus 01-disease-subtype +EFO:0008608 radiotherapy-induced pemphigus 01-disease-subtype +EFO:0008610 ocular cicatricial pemphigoid 01-disease-subtype +EFO:0008611 localised cicatricial pemphigoid 01-disease-subtype +EFO:0008612 vegetating cicatricial pemphigoid 01-disease-subtype +EFO:0008613 pemphigus vegetans 01-disease-subtype +EFO:0008614 Iodine Deficiency Hypothyroidism 02-disease-root +EFO:0008615 Cystic Kidney Disease 02-disease-root +EFO:0008616 Complex Cyst of Kidney 01-disease-subtype +EFO:0008617 Medullary Cystic Kidney Disease Type I 01-disease-subtype +EFO:0008618 Medullary Cystic Kidney Disease Type II 01-disease-subtype +EFO:0008619 Simple Cyst of Kidney 01-disease-subtype +EFO:0008620 Polycystic Kidney Disease 01-disease-subtype +EFO:0008621 Microcystic Renal Disease 01-disease-subtype +EFO:0008622 female genital tract polyp 03-disease-area +EFO:0008623 dysthymic disorder 02-disease-root +EFO:0008624 vitreous body disease 03-disease-area +EFO:0008625 vitreous prolapse 02-disease-root +EFO:0008626 vitreous hemorrhage 02-disease-root +EFO:0008627 eye hemorrhage 03-disease-area +EFO:0008628 Hyalitis 02-disease-root +EFO:0008997 synovitis 02-disease-root +EFO:0008998 acute synovitis 01-disease-subtype +EFO:0009000 Mast Cell Neoplasm 03-disease-area +EFO:0009001 Mastocytosis 03-disease-area +EFO:0009002 splenic disease 03-disease-area +EFO:0009003 ovarian dysfunction 03-disease-area +EFO:0009004 hyperestrogenism 02-disease-root +EFO:0009005 premature menopause 01-disease-subtype +EFO:0009006 hyperandrogenism 02-disease-root +EFO:0009007 Adrenal Hyperandrogenism 01-disease-subtype +EFO:0009008 Ovarian Hyperandrogenism 01-disease-subtype +EFO:0009009 Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome 02-disease-root +EFO:0009010 HSV2 virologic severity measurement 04-non-disease +EFO:0009011 Arteritis 02-disease-root +EFO:0009012 Polyarteritis Nodosa 01-disease-subtype +EFO:0009014 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia 01-disease-subtype +EFO:0009015 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome 02-disease-root +EFO:0009016 Ataxia-oculomotor apraxia type 4 01-disease-subtype +EFO:0009017 Autosomal recessive spastic paraplegia type 57 01-disease-subtype +EFO:0009018 Autosomal recessive spastic paraplegia type 75 01-disease-subtype +EFO:0009019 Autosomal recessive spastic paraplegia type 76 01-disease-subtype +EFO:0009020 Aymé-Gripp syndrome 02-disease-root +EFO:0009021 Bardet-Biedl syndrome 1 01-disease-subtype +EFO:0009022 Bardet-Biedl syndrome 10 01-disease-subtype +EFO:0009023 Bardet-Biedl syndrome 12 01-disease-subtype +EFO:0009024 Bardet-Biedl syndrome 4 01-disease-subtype +EFO:0009025 Bardet-Biedl syndrome 5 01-disease-subtype +EFO:0009026 Bardet-Biedl syndrome 7 01-disease-subtype +EFO:0009027 Bardet-Biedl syndrome 9 01-disease-subtype +EFO:0009028 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome 02-disease-root +EFO:0009029 Central precocious puberty 02-disease-root +EFO:0009030 Cerebellar-facial-dental syndrome 01-disease-subtype +EFO:0009031 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome 02-disease-root +EFO:0009032 Combined oxidative phosphorylation defect type 21 01-disease-subtype +EFO:0009033 Combined oxidative phosphorylation defect type 23 01-disease-subtype +EFO:0009034 Combined oxidative phosphorylation defect type 24 01-disease-subtype +EFO:0009035 Combined oxidative phosphorylation defect type 25 01-disease-subtype +EFO:0009036 Combined oxidative phosphorylation defect type 26 01-disease-subtype +EFO:0009037 Combined oxidative phosphorylation defect type 27 01-disease-subtype +EFO:0009038 Combined oxidative phosphorylation defect type 30 01-disease-subtype +EFO:0009039 Congenital bile acid synthesis defect 02-disease-root +EFO:0009040 Cranio-cervical dystonia with laryngeal and upper-limb involvement 01-disease-subtype +EFO:0009041 Cushing syndrome due to macronodular adrenal hyperplasia 01-disease-subtype +EFO:0009042 Estrogen resistance syndrome 02-disease-root +EFO:0009043 Familial porphyria cutanea tarda 01-disease-subtype +EFO:0009044 Fanconi anemia complementation group A 01-disease-subtype +EFO:0009045 Fanconi anemia complementation group F 01-disease-subtype +EFO:0009046 Fanconi anemia complementation group G 01-disease-subtype +EFO:0009047 Hyperpigmentation of the skin 04-non-disease +EFO:0009048 Intrahepatic cholestasis of pregnancy 02-disease-root +EFO:0009049 Juvenile nephropathic cystinosis 01-disease-subtype +EFO:0009050 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome 02-disease-root +EFO:0009051 Non-immune hydrops fetalis 04-non-disease +EFO:0009052 Pleuropulmonary blastoma 02-disease-root +EFO:0009053 Primary progressive aphasia 02-disease-root +EFO:0009054 Pulmonary arterial hypertension associated with congenital heart disease 01-disease-subtype +EFO:0009055 RIDDLE syndrome 01-disease-subtype +EFO:0009056 Spinocerebellar ataxia type 38 01-disease-subtype +EFO:0009057 Spinocerebellar ataxia type 40 01-disease-subtype +EFO:0009058 Spinocerebellar ataxia type 41 01-disease-subtype +EFO:0009059 Spinocerebellar ataxia type 42 01-disease-subtype +EFO:0009060 Spinocerebellar ataxia type 43 01-disease-subtype +EFO:0009061 TELO2-related intellectual disability-neurodevelopmental disorder 02-disease-root +EFO:0009062 Temple-Baraitser syndrome 02-disease-root +EFO:0009063 Wolfram-like syndrome 02-disease-root +EFO:0009064 X-linked erythropoietic protoporphyria 01-disease-subtype +EFO:0009065 calcium oxalate urolithiasis 02-disease-root +EFO:0009066 clcn4-related disorder 02-disease-root +EFO:0009067 combined partial 17-alpha-hydroxylase/17,20-lyase deficiency 02-disease-root +EFO:0009068 dicer1 syndrome 02-disease-root +EFO:0009069 hepatic methionine adenosyltransferase deficiency 02-disease-root +EFO:0009070 intellectual developmental disorder with dysmorphic facies and ptosis 02-disease-root +EFO:0009071 malignant hyperthermia, susceptibility to, 1 01-disease-subtype +EFO:0009072 mbd5 associated neurodevelopmental disorder 02-disease-root +EFO:0009073 methylmalonic aciduria (cobalamin deficiency) cblA type 02-disease-root +EFO:0009074 methylmalonic aciduria cblb type 01-disease-subtype +EFO:0009075 neuropathy, hereditary motor and sensory, type vib 01-disease-subtype +EFO:0009076 nonsyndromic deafness 01-disease-subtype +EFO:0009077 premature chromatid separation trait 02-disease-root +EFO:0009078 stag1-related disorder 02-disease-root +EFO:0009079 white-sutton syndrome 01-disease-subtype +EFO:0009080 x-linked ichthyosis with steryl-sulfatase deficiency 02-disease-root +EFO:0009081 Heterotaxia 04-non-disease +EFO:0009082 Pilomatrixoma 02-disease-root +EFO:0009083 absent or delayed speech development 04-non-disease +EFO:0009084 Endarteritis 01-disease-subtype +EFO:0009085 arterial occlusive disease 03-disease-area +EFO:0009086 arteriosclerosis 03-disease-area +EFO:0009087 non-typhoidal Salmonella bacteremia 01-disease-subtype +EFO:0009092 breast milk measurement 04-non-disease +EFO:0009093 choroidal melanoma 01-disease-subtype +EFO:0009094 idiopathic dilated cardiomyopathy 01-disease-subtype +EFO:0009095 psychological measurement 04-non-disease +EFO:0009096 negative domain measurement 04-non-disease +EFO:0009097 positive domain measurement 04-non-disease +EFO:0009098 cognitive domain measurement 04-non-disease +EFO:0009099 arousal domain measurement 04-non-disease +EFO:0009100 social domain measurement 04-non-disease +EFO:0009101 age at first birth measurement 04-non-disease +EFO:0009102 number of children ever born measurement 04-non-disease +EFO:0009103 theory of mind measurement 04-non-disease +EFO:0009104 hyperuricemia 01-disease-subtype +EFO:0009105 high altitude adaptation 04-non-disease +EFO:0009113 alcohol exposure measurement 04-non-disease +EFO:0009114 in utero exposure measurement 04-non-disease +EFO:0009115 tobacco smoke exposure measurement 04-non-disease +EFO:0009116 vitamin supplement exposure measurement 04-non-disease +EFO:0009117 typhus 02-disease-root +EFO:0009118 female reproductive endometrioid cancer 02-disease-root +EFO:0009119 precursor lymphoblastic lymphoma/leukemia 03-disease-area +EFO:0009130 clostridium difficile infection 02-disease-root +EFO:0009131 response to polyunsaturated fatty acid supplementation 04-non-disease +EFO:0009132 cholesterol efflux capacity measurement 04-non-disease +EFO:0009133 cholesteryl ester transfer protein measurement 04-non-disease +EFO:0009134 trimethyllysine measurement 04-non-disease +EFO:0009135 leigh syndrome due to mitochondrial complex iv deficiency 01-disease-subtype +EFO:0009136 heterotaxy, visceral, x-linked 04-non-disease +EFO:0009137 renal hypodysplasia/aplasia 3 04-non-disease +EFO:0009138 laminin alpha 2-related dystrophy 01-disease-subtype +EFO:0009139 glut1 deficiency syndrome 1, autosomal recessive 02-disease-root +EFO:0009140 metastatic pancreatic neuroendocrine tumours 01-disease-subtype +EFO:0009141 fgfr2 related craniosynostosis 02-disease-root +EFO:0009142 autosomal dominant dilated cardiomyopathy 01-disease-subtype +EFO:0009143 ryr1-related disorders 02-disease-root +EFO:0009144 Lethal neonatal spasticity-epileptic encephalopathy syndrome 02-disease-root +EFO:0009145 limb-girdle muscular dystrophy-dystroglycanopathy, type c1 01-disease-subtype +EFO:0009146 pik3ca related overgrowth spectrum 02-disease-root +EFO:0009147 partial adenosine deaminase deficiency 01-disease-subtype +EFO:0009148 acth-independent macronodular adrenal hyperplasia 2 01-disease-subtype +EFO:0009149 muscular dystrophy, congenital, with cataracts and intellectual disability 01-disease-subtype +EFO:0009150 cholestasis, intrahepatic, of pregnancy 3 02-disease-root +EFO:0009151 cone-rod dystrophy and hearing loss 02-disease-root +EFO:0009152 intellectual disability, autosomal dominant 52 01-disease-subtype +EFO:0009153 lymphedema, hereditary, iii 02-disease-root +EFO:0009154 hemophilia b leyden 01-disease-subtype +EFO:0009155 growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy 02-disease-root +EFO:0009156 intellectual disability, autosomal dominant 48 01-disease-subtype +EFO:0009157 susceptibility to malaria 01-disease-subtype +EFO:0009158 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 02-disease-root +EFO:0009159 combined oxidative phosphorylation deficiency 33 01-disease-subtype +EFO:0009160 stromme syndrome 01-disease-subtype +EFO:0009161 debrisoquine, poor metabolism of 04-non-disease +EFO:0009162 charcot-marie-tooth disease, axonal, type 2t 01-disease-subtype +EFO:0009163 woolly hair, autosomal recessive 2, with or without hypotrichosis 01-disease-subtype +EFO:0009164 intellectual disability, autosomal dominant 54 01-disease-subtype +EFO:0009165 intellectual disability, autosomal dominant 53 01-disease-subtype +EFO:0009166 response to ivacaftor - efficacy 04-non-disease +EFO:0009167 response to warfarin 04-non-disease +EFO:0009168 response to prednisolone 04-non-disease +EFO:0009169 response to deoxygalactonojirimycin 04-non-disease +EFO:0009170 response to tyrosine kinase inhibitor 04-non-disease +EFO:0009172 thyroxine-binding globulin measurement 04-non-disease +EFO:0009175 response to synacthen 04-non-disease +EFO:0009176 adrenal suppression measurement 04-non-disease +EFO:0009177 myopic maculopathy severity measurement 04-non-disease +EFO:0009178 neurofilament light chain measurement 04-non-disease +EFO:0009179 beta-secretase 1 measurement 04-non-disease +EFO:0009180 rosacea severity measurement 04-non-disease +EFO:0009181 growth differentiation factor 15 measurement 04-non-disease +EFO:0009182 psychotic symptom measurement 04-non-disease +EFO:0009183 empathy measurement 04-non-disease +EFO:0009184 heart rate response to exercise 04-non-disease +EFO:0009185 heart rate response to recovery post exercise 04-non-disease +EFO:0009186 platelet larger cell ratio 04-non-disease +EFO:0009187 immature platelet fraction 04-non-disease +EFO:0009188 Red cell distribution width 04-non-disease +EFO:0009189 Hyperthyroidism 02-disease-root +EFO:0009190 Thyrotoxicosis 01-disease-subtype +EFO:0009191 Toxic Nodular Goiter 01-disease-subtype +EFO:0009192 Drug- or toxin-induced pulmonary arterial hypertension 01-disease-subtype +EFO:0009193 Pulmonary arterial hypertension associated with another disease 01-disease-subtype +EFO:0009194 Pulmonary arterial hypertension associated with HIV infection 01-disease-subtype +EFO:0009195 Pulmonary arterial hypertension associated with chronic hemolytic anemia 01-disease-subtype +EFO:0009196 Pulmonary arterial hypertension associated with connective tissue disease 01-disease-subtype +EFO:0009197 Pulmonary arterial hypertension associated with portal hypertension 01-disease-subtype +EFO:0009198 Pulmonary arterial hypertension associated with schistosomiasis 01-disease-subtype +EFO:0009199 Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis 01-disease-subtype +EFO:0009200 Eisenmenger syndrome 01-disease-subtype +EFO:0009201 myopic macular degeneration 02-disease-root +EFO:0009202 Reticulocyte Mean Corpuscular Hemoglobin Measurement 04-non-disease +EFO:0009203 Carboxyhemoglobin to Total Hemoglobin Ratio Measurement 04-non-disease +EFO:0009204 Corpuscular Hemoglobin Concentration Distribution Width 04-non-disease +EFO:0009205 Corpuscular Hemoglobin Content 04-non-disease +EFO:0009206 Free Hemoglobin Measurement 04-non-disease +EFO:0009208 Hemoglobin A Measurement 04-non-disease +EFO:0009209 Hemoglobin A to Total Hemoglobin Ratio Measurement 04-non-disease +EFO:0009210 Hemoglobin A1 to Total Hemoglobin Ratio Measurement 04-non-disease +EFO:0009211 Hemoglobin A2 Prime to Total Hemoglobin Ratio Measurement 04-non-disease +EFO:0009212 Hemoglobin A2 to Total Hemoglobin Ratio Measurement 04-non-disease +EFO:0009213 Hemoglobin B Measurement 04-non-disease +EFO:0009214 Hemoglobin Barts to Total Hemoglobin Ratio Measurement 04-non-disease +EFO:0009215 Hemoglobin C Measurement 04-non-disease +EFO:0009216 Hemoglobin C to Total Hemoglobin Ratio Measurement 04-non-disease +EFO:0009217 Hemoglobin D to Total Hemoglobin Ratio Measurement 04-non-disease +EFO:0009218 Hemoglobin E to Total Hemoglobin Ratio Measurement 04-non-disease +EFO:0009219 Hemoglobin F to Total Hemoglobin Ratio Measurement 04-non-disease +EFO:0009220 Hemoglobin G Coushatta to Total Hemoglobin Ratio Measurement 04-non-disease +EFO:0009221 Hemoglobin Lepore to Total Hemoglobin Ratio Measurement 04-non-disease +EFO:0009222 Hemoglobin O-Arab to Total Hemoglobin Ratio Measurement 04-non-disease +EFO:0009223 Hemoglobin S Measurement 04-non-disease +EFO:0009224 Hemoglobin S to Total Hemoglobin Ratio Measurement 04-non-disease +EFO:0009225 Hemoglobin Tetramer Measurement 04-non-disease +EFO:0009226 Methemoglobin to Total Hemoglobin Ratio Measurement 04-non-disease +EFO:0009227 Oxyhemoglobin to Total Hemoglobin Ratio Measurement 04-non-disease +EFO:0009228 Reticulocyte Corpuscular Hemoglobin Concentration Mean 04-non-disease +EFO:0009229 Reticulocyte Corpuscular Hemoglobin Content 04-non-disease +EFO:0009230 Reticulocyte Corpuscular Hemoglobin Distribution Width 04-non-disease +EFO:0009231 Reticulocyte Hemoglobin Distribution Width 04-non-disease +EFO:0009232 Blast Count 04-non-disease +EFO:0009233 Blood Cell Count Ratio Measurement 04-non-disease +EFO:0009234 Blood Cell Count with Differential 04-non-disease +EFO:0009235 Eosinophilic Metamyelocyte Count 04-non-disease +EFO:0009236 Eosinophilic Myelocyte Count 04-non-disease +EFO:0009237 Estimated Platelets Measurement 04-non-disease +EFO:0009238 Immature Plasma Cell Count 04-non-disease +EFO:0009239 Mature Plasma Cell Count 04-non-disease +EFO:0009240 Metarubricyte Count 04-non-disease +EFO:0009241 Monocytoid Cells to Leukocytes Ratio Measurement 04-non-disease +EFO:0009242 Myeloid Progenitor Cell Count 04-non-disease +EFO:0009243 Myeloid to Erythroid Ratio Measurement 04-non-disease +EFO:0009244 Neutrophilic Metamyelocyte Count 04-non-disease +EFO:0009245 Neutrophilic Myelocyte Count 04-non-disease +EFO:0009246 Neutrophils Band Form to Neutrophils Ratio Measurement 04-non-disease +EFO:0009247 Ovalocyte Count 04-non-disease +EFO:0009248 Plasma Cell Count 04-non-disease +EFO:0009249 Precursor Plasma Cell Count 04-non-disease +EFO:0009250 Prorubricyte Count 04-non-disease +EFO:0009251 Rubricyte Count 04-non-disease +EFO:0009252 Segmented Neutrophils to Neutrophils Ratio Measurement 04-non-disease +EFO:0009253 Immature Reticulocyte Fraction Measurement 04-non-disease +EFO:0009254 optic nerve glioblastoma 01-disease-subtype +EFO:0009255 cecal neoplasm 03-disease-area +EFO:0009256 standard deviation of the normal-to-normal inter beat intervals 04-non-disease +EFO:0009257 root mean square of the successive differences of inter beat intervals 04-non-disease +EFO:0009258 peak-valley respiratory sinus arrhythmia or high frequency power 04-non-disease +EFO:0009259 skin carcinoma 03-disease-area +EFO:0009260 non-melanoma skin carcinoma 02-disease-root +EFO:0009261 response to aripiprazole 04-non-disease +EFO:0009262 nicotine dependence symptom count 04-non-disease +EFO:0009263 nicotine withdrawal symptom count 04-non-disease +EFO:0009264 maximum cigarettes per day measurement 04-non-disease +EFO:0009265 nausea and vomiting of pregnancy severity measurement 04-non-disease +EFO:0009266 refractory celiac disease 02-disease-root +EFO:0009267 delirium 02-disease-root +EFO:0009268 family history of Alzheimer’s disease 04-non-disease +EFO:0009269 ADAMTS13 measurement 04-non-disease +EFO:0009270 heel bone mineral density 04-non-disease +EFO:0009271 Epstein Barr virus nuclear antigen-1 seropositivity 04-non-disease +EFO:0009272 Epstein Barr viral capsid antigen seropositivity 04-non-disease +EFO:0009273 anti-Epstein Barr virus antibody measurement 04-non-disease +EFO:0009274 Epstein Barr viral capsid antigen IgG measurement 04-non-disease +EFO:0009275 premature cardiac contractions 01-disease-subtype +EFO:0009276 ventricular ectopy 01-disease-subtype +EFO:0009277 supraventricular ectopy 01-disease-subtype +EFO:0009278 cranial vault morphology measurement 04-non-disease +EFO:0009279 response to tenofovir 04-non-disease +EFO:0009281 choroidal thickness measurement 04-non-disease +EFO:0009282 sodium measurement 04-non-disease +EFO:0009283 potassium measurement 04-non-disease +EFO:0009284 chloride measurement 04-non-disease +EFO:0009285 fractional shortening 04-non-disease +EFO:0009286 heart relative wall thickness 04-non-disease +EFO:0009287 interventricular septum thickness 04-non-disease +EFO:0009288 posterior wall thickness 04-non-disease +EFO:0009289 left ventricular mass 04-non-disease +EFO:0009290 left ventricular mass index 04-non-disease +EFO:0009291 E/A ratio 04-non-disease +EFO:0009295 polyarteritis nodosa, childhoood-onset 01-disease-subtype +EFO:0009296 mutyh-associated polyposis 01-disease-subtype +EFO:0009297 fg syndrome 02-disease-root +EFO:0009298 hepatic failure, early-onset, and neurologic disorder due to cytochrome c oxidase deficiency 02-disease-root +EFO:0009299 marfan syndrome/loeys-dietz syndrome/familial thoracic aortic aneurysms and dissections 02-disease-root +EFO:0009300 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 01-disease-subtype +EFO:0009301 dystonia 28, childhood-onset 01-disease-subtype +EFO:0009302 amelogenesis imperfecta, type ij 01-disease-subtype +EFO:0009303 fructosamine measurement 04-non-disease +EFO:0009304 percent glycated albumin 04-non-disease +EFO:0009305 total glycated albumin 04-non-disease +EFO:0009306 atazanavir measurement 04-non-disease +EFO:0009307 glycated albumin measurement 04-non-disease +EFO:0009308 response to long-chain n-3 PUFA dietary supplementation 04-non-disease +EFO:0009312 proprotein convertase subtilisin/kexin type 9 measurement 04-non-disease +EFO:0009313 Linear IgA Dermatosis 02-disease-root +EFO:0009314 blood coagulation disease 03-disease-area +EFO:0009315 thrombophilia 02-disease-root +EFO:0009316 protein c deficiency 01-disease-subtype +EFO:0009321 diabetic macular edema 01-disease-subtype +EFO:0009322 proliferative diabetic retinopathy 01-disease-subtype +EFO:0009323 alpha synuclein measurement 04-non-disease +EFO:0009324 APOL1 risk genotype carrier status 04-non-disease +EFO:0009325 basal ganglia growth measurement 04-non-disease +EFO:0009326 brain growth measurement 04-non-disease +EFO:0009327 cerebellum growth measurement 04-non-disease +EFO:0009328 cerebral cortex growth measurement 04-non-disease +EFO:0009330 Chlamydia trachomatis seropositivity 04-non-disease +EFO:0009331 erosive tooth wear measurement 04-non-disease +EFO:0009332 executive function measurement 04-non-disease +EFO:0009334 prefrontal cortex growth measurement 04-non-disease +EFO:0009335 white matter growth measurement 04-non-disease +EFO:0009336 velopharyngeal dysfunction 04-non-disease +EFO:0009338 Epstein-Barr virus early antigen seropositivity 04-non-disease +EFO:0009339 Herpes simplex virus 2 seropositivity 04-non-disease +EFO:0009340 Varicella zoster virus seropositivity 04-non-disease +EFO:0009341 Helicobacter pylori seropositivity 04-non-disease +EFO:0009342 Measles virus seropositivity 04-non-disease +EFO:0009343 Mumps virus seropositivity 04-non-disease +EFO:0009344 Rubella virus seropositivity 04-non-disease +EFO:0009345 Hepatitis B virus surface antigen seropositivity 04-non-disease +EFO:0009346 Hepatitis B virus core antigen seropositivity 04-non-disease +EFO:0009347 Anti-cytomegalovirus IgG measurement 04-non-disease +EFO:0009348 Anti-Epstein-Barr virus early antigen IgG measurement 04-non-disease +EFO:0009349 Anti-herpes simplex virus 1 IgG measurement 04-non-disease +EFO:0009350 Anti-herpes simplex virus 2 IgG measurement 04-non-disease +EFO:0009351 Anti-varicella zoster virus IgG measurement 04-non-disease +EFO:0009352 Anti-Helicobacter pylori IgG measurement 04-non-disease +EFO:0009353 Anti-Toxoplasma gondii IgG measurement 04-non-disease +EFO:0009354 Anti-influenza A virus IgG measurement 04-non-disease +EFO:0009355 Anti-measles virus IgG measurement 04-non-disease +EFO:0009356 Anti-mumps virus IgG measurement 04-non-disease +EFO:0009357 Anti-rubella virus IgG measurement 04-non-disease +EFO:0009358 Anti-hepatitis B virus surface antigen IgG measurement 04-non-disease +EFO:0009359 Anti-hepatitis B virus core antigen IgG measurement 04-non-disease +EFO:0009360 eyelid sagging measurement 04-non-disease +EFO:0009361 colorectal mucinous adenocarcinoma 01-disease-subtype +EFO:0009362 nicotine withdrawal measurement 04-non-disease +EFO:0009363 chronic central serous retinopathy 01-disease-subtype +EFO:0009364 non-allergic rhinitis 02-disease-root +EFO:0009365 vaginal discharge 04-non-disease +EFO:0009366 quality of life during menstruation measurement 04-non-disease +EFO:0009367 glucose metabolism measurement 04-non-disease +EFO:0009368 factor VII activating protease measurement 04-non-disease +EFO:0009369 diffusing capacity of the lung for carbon monoxide 04-non-disease +EFO:0009370 radon exposure measurement 04-non-disease +EFO:0009372 response to ketogenic diet 04-non-disease +EFO:0009373 edema 02-disease-root +EFO:0009374 energy intake measurement 04-non-disease +EFO:0009380 facial neuralgia 02-disease-root +EFO:0009381 fibroblast growth factor 23 measurement 04-non-disease +EFO:0009382 metabolically healthy obesity 01-disease-subtype +EFO:0009383 tumoral calcinosis, hyperphosphatemic, familial, 2 01-disease-subtype +EFO:0009384 tumoral calcinosis, hyperphosphatemic, familial, 3 01-disease-subtype +EFO:0009385 familial tumoral calcinosis 01-disease-subtype +EFO:0009386 central nervous system disease 03-disease-area +EFO:0009387 peripheral nervous system disease 03-disease-area +EFO:0009388 sum of basophil and neutrophil counts 04-non-disease +EFO:0009389 sum of eosinophil and basophil counts 04-non-disease +EFO:0009390 sum of neutrophil and eosinophil counts 04-non-disease +EFO:0009391 response to tamoxifen 04-non-disease +EFO:0009392 glucose metabolism decline measurement 04-non-disease +EFO:0009393 breast pressure measurement 04-non-disease +EFO:0009394 hippocampal CA1 volume 04-non-disease +EFO:0009395 hippocampal CA3 volume 04-non-disease +EFO:0009396 hippocampal CA4 volume 04-non-disease +EFO:0009397 hippocampus molecular layer volume 04-non-disease +EFO:0009398 hippocampal tail volume 04-non-disease +EFO:0009399 subiculum volume 04-non-disease +EFO:0009400 presubiculum volume 04-non-disease +EFO:0009401 hippocampal amigdala transition area volume 04-non-disease +EFO:0009402 hippocampus fimbria volume 04-non-disease +EFO:0009403 granule cell layer dentate gyrus volume 04-non-disease +EFO:0009404 hippocampal fissure volume 04-non-disease +EFO:0009405 parasubiculum volume 04-non-disease +EFO:0009406 glucose metabolism disease 03-disease-area +EFO:0009408 abnormal vaginal discharge smell 04-non-disease +EFO:0009409 abnormal vaginal discharge itching 04-non-disease +EFO:0009410 uterine fibroid measurement 04-non-disease +EFO:0009411 CCL13 measurement 04-non-disease +EFO:0009412 interleukin 1 alpha measurement 04-non-disease +EFO:0009413 CCL15 measurement 04-non-disease +EFO:0009414 CCL17 measurement 04-non-disease +EFO:0009415 CCL19 measurement 04-non-disease +EFO:0009416 CCL21 measurement 04-non-disease +EFO:0009417 CCL23 measurement 04-non-disease +EFO:0009418 CCL24 measurement 04-non-disease +EFO:0009419 CX3CL1 measurement 04-non-disease +EFO:0009420 CXCL12 measurement 04-non-disease +EFO:0009421 CXCL13 measurement 04-non-disease +EFO:0009422 CXCL5 measurement 04-non-disease +EFO:0009423 CXCL6 measurement 04-non-disease +EFO:0009424 Yersinia enterocolitica infectious disease 02-disease-root +EFO:0009425 Yersinia pestis infectious disease 02-disease-root +EFO:0009426 necrosis 04-non-disease +EFO:0009427 embryonic lethality 04-non-disease +EFO:0009428 synthetic lethality 04-non-disease +EFO:0009429 Mycobacterium infection 03-disease-area +EFO:0009430 neuralgia 02-disease-root +EFO:0009431 intestinal disease 03-disease-area +EFO:0009432 fibroblastic disorder 02-disease-root +EFO:0009433 lower respiratory tract disease 03-disease-area +EFO:0009434 death by undetermined cause 04-non-disease +EFO:0009435 arthritis disease activity score measurement 04-non-disease +EFO:0009436 offspring survival measurement 04-non-disease +EFO:0009437 offspring mortality measurement 04-non-disease +EFO:0009438 number of pregnancies measurement 04-non-disease +EFO:0009439 multiple births measurement 04-non-disease +EFO:0009440 age at last pregnancy measurement 04-non-disease +EFO:0009441 Waldenstrom macroglobulinemia 02-disease-root +EFO:0009443 BRCAX breast cancer 01-disease-subtype +EFO:0009444 hypoxia 04-non-disease +EFO:0009445 anoxya 04-non-disease +EFO:0009446 asphyxia 04-non-disease +EFO:0009447 hypoxemia 04-non-disease +EFO:0009448 pulmonary fibrosis 02-disease-root +EFO:0009449 keratitis 03-disease-area +EFO:0009450 conjunctivitis 01-disease-subtype +EFO:0009451 hypoparathyroidism 03-disease-area +EFO:0009452 hyperaldosteronism 02-disease-root +EFO:0009453 hemiplegia 02-disease-root +EFO:0009454 gastric ulcer 01-disease-subtype +EFO:0009455 lacrimal apparatus disease 03-disease-area +EFO:0009456 exfoliative dermatitis 02-disease-root +EFO:0009457 abnormal vascular wound healing 04-non-disease +EFO:0009458 alcohol use disorder measurement 04-non-disease +EFO:0009459 ACPA-positive rheumatoid arthritis 01-disease-subtype +EFO:0009460 ACPA-negative rheumatoid arthritis 01-disease-subtype +EFO:0009463 infarction 04-non-disease +EFO:0009464 corneal disease 03-disease-area +EFO:0009466 Löfgren’s syndrome 01-disease-subtype +EFO:0009467 response to anti-vascular endothelial growth factor drug 04-non-disease +EFO:0009468 jaw disease 03-disease-area +EFO:0009469 Bartholin gland disease 02-disease-root +EFO:0009471 small kidney 04-non-disease +EFO:0009472 tympanic membrane perforation 04-non-disease +EFO:0009473 hemolysis 04-non-disease +EFO:0009475 cervical polyp 02-disease-root +EFO:0009476 neck injury 04-non-disease +EFO:0009477 vertebral joint disease 03-disease-area +EFO:0009478 vocal cord polyp 02-disease-root +EFO:0009480 coping behaviour measurement 04-non-disease +EFO:0009481 paranasal sinus disease 03-disease-area +EFO:0009482 drug allergy 03-disease-area +EFO:0009483 breast disease 03-disease-area +EFO:0009484 uterine polyp 02-disease-root +EFO:0009485 eye injury 04-non-disease +EFO:0009486 diabetic eye disease 03-disease-area +EFO:0009487 nerve compression syndrome 03-disease-area +EFO:0009488 spinal cord disease 03-disease-area +EFO:0009489 cranial nerve palsy 03-disease-area +EFO:0009490 nervous system injury 03-disease-area +EFO:0009491 adrenocortical insufficiency 03-disease-area +EFO:0009492 cardiac arrest 01-disease-subtype +EFO:0009493 paroxysmal tachycardia 01-disease-subtype +EFO:0009502 abdominal injury 04-non-disease +EFO:0009503 caustic injury 04-non-disease +EFO:0009504 crush injury 04-non-disease +EFO:0009505 head injury 04-non-disease +EFO:0009506 heart injury 04-non-disease +EFO:0009507 knee injury 04-non-disease +EFO:0009508 leg injury 04-non-disease +EFO:0009509 limb injury 04-non-disease +EFO:0009510 peripheral nerve injury 02-disease-root +EFO:0009512 lower extremity fracture 03-disease-area +EFO:0009513 multiple bone fractures 02-disease-root +EFO:0009514 upper extremity fracture 02-disease-root +EFO:0009515 wrist fracture 01-disease-subtype +EFO:0009516 burn 04-non-disease +EFO:0009517 checkup 04-non-disease +EFO:0009518 complication 04-non-disease +EFO:0009519 device complication 04-non-disease +EFO:0009520 contraception 04-non-disease +EFO:0009521 dislocation 04-non-disease +EFO:0009522 disturbance of skin sensation 02-disease-root +EFO:0009523 fecal incontinence 02-disease-root +EFO:0009524 female genital tract fistula 02-disease-root +EFO:0009525 foreign body 04-non-disease +EFO:0009526 foreign body in gastrointestinal tract 01-disease-subtype +EFO:0009527 frostbite 04-non-disease +EFO:0009528 AIDS-related disease 03-disease-area +EFO:0009529 anemia due to enzyme disorder 03-disease-area +EFO:0009530 anuria 02-disease-root +EFO:0009531 aortic valve disease 02-disease-root +EFO:0009532 autonomic nervous system disease 03-disease-area +EFO:0009533 basal ganglia disease 03-disease-area +EFO:0009534 biliary tract disease 03-disease-area +EFO:0009535 binocular vision disease 02-disease-root +EFO:0009536 blepharitis 02-disease-root +EFO:0009537 cervical disc degenerative disorder 01-disease-subtype +EFO:0009538 chronic inflammatory demyelinating polyneuropathy 01-disease-subtype +EFO:0009539 congenital mitral malformation 02-disease-root +EFO:0009540 dental pulp disease 03-disease-area +EFO:0009541 disease of peritoneum 03-disease-area +EFO:0009542 disorder of appendix 03-disease-area +EFO:0009543 disturbances of sensation of smell and taste 04-non-disease +EFO:0009544 esophageal disease 03-disease-area +EFO:0009545 esophageal varices 02-disease-root +EFO:0009546 eye adnexa disease 03-disease-area +EFO:0009547 eyelid disease 03-disease-area +EFO:0009548 fallopian tube disease 03-disease-area +EFO:0009549 female reproductive system disease 03-disease-area +EFO:0009550 headache disorder 03-disease-area +EFO:0009551 heart valve disease 03-disease-area +EFO:0009552 hemorrhoid 01-disease-subtype +EFO:0009553 HIV-associated cancer 02-disease-root +EFO:0009554 malabsorption syndrome 03-disease-area +EFO:0009555 male reproductive system disease 03-disease-area +EFO:0009556 mineral metabolism disease 03-disease-area +EFO:0009557 mitral valve disease 02-disease-root +EFO:0009558 mononeuropathy 03-disease-area +EFO:0009559 nerve plexus disease 03-disease-area +EFO:0009560 otitis externa 02-disease-root +EFO:0009561 parasitic intestinal disease 03-disease-area +EFO:0009562 polyneuropathy 03-disease-area +EFO:0009563 protein energy malnutrition 02-disease-root +EFO:0009564 pulmonary valve disease 02-disease-root +EFO:0009565 radiation-induced disorder 04-non-disease +EFO:0009566 renal tubule disease 03-disease-area +EFO:0009567 Spirochaetales Infections 03-disease-area +EFO:0009568 tricuspid valve disease 02-disease-root +EFO:0009569 trigeminal nerve disease 03-disease-area +EFO:0009570 tympanic membrane disease 02-disease-root +EFO:0009571 urinary tract obstruction 03-disease-area +EFO:0009572 uterine inflammatory disease 02-disease-root +EFO:0009573 high-risk pregnancy 02-disease-root +EFO:0009574 intoxication 04-non-disease +EFO:0009575 mosquito-borne hemorragic fever 02-disease-root +EFO:0009576 multiple gestation 04-non-disease +EFO:0009577 orthopedic nursing 04-non-disease +EFO:0009578 placental retention 02-disease-root +EFO:0009579 postpartum hemorrhage 01-disease-subtype +EFO:0009580 prophylactic surgery 04-non-disease +EFO:0009581 rehabilitation 04-non-disease +EFO:0009582 sprain 04-non-disease +EFO:0009583 place of residence measurement 04-non-disease +EFO:0009584 AQP4-IgG-positive neuromyelitis optica 01-disease-subtype +EFO:0009585 AQP4-IgG-negative neuromyelitis optica 01-disease-subtype +EFO:0009586 skin hydration measurement 04-non-disease +EFO:0009587 anhedonia measurement 04-non-disease +EFO:0009588 """feeling \fed-up"""" measurement""""""" 04-non-disease +EFO:0009589 worry measurement 04-non-disease +EFO:0009590 visual memory measurement 04-non-disease +EFO:0009591 verbal memory measurement 04-non-disease +EFO:0009592 social interaction measurement 04-non-disease +EFO:0009593 mood change measurement 04-non-disease +EFO:0009594 irritability measurement 04-non-disease +EFO:0009595 guilt measurement 04-non-disease +EFO:0009596 feeling tense measurement 04-non-disease +EFO:0009597 feeling nervous measurement 04-non-disease +EFO:0009598 feeling miserable measurement 04-non-disease +EFO:0009599 feeling emotionally hurt measurement 04-non-disease +EFO:0009601 testicular disease 03-disease-area +EFO:0009602 prostate disease 03-disease-area +EFO:0009603 stroke outcome severity measurement 04-non-disease +EFO:0009604 labyrinthitis 02-disease-root +EFO:0009605 pancreas disease 03-disease-area +EFO:0009606 macular degeneration 02-disease-root +EFO:0009607 pituitary gland disease 03-disease-area +EFO:0009608 stomach disease 03-disease-area +EFO:0009609 myocarditis 01-disease-subtype +EFO:0009610 cervical spondylosis 02-disease-root +EFO:0009611 orbital fracture 01-disease-subtype +EFO:0009612 jaw fracture 01-disease-subtype +EFO:0009613 fibula fracture 02-disease-root +EFO:0009614 clavicle fracture 02-disease-root +EFO:0009615 ankle fracture 02-disease-root +EFO:0009616 finger fracture 01-disease-subtype +EFO:0009617 knee fracture 02-disease-root +EFO:0009618 foot fracture 02-disease-root +EFO:0009619 neuroma 02-disease-root +EFO:0009620 rib fracture 02-disease-root +EFO:0009621 shoulder fracture 02-disease-root +EFO:0009622 fracture of pelvis 02-disease-root +EFO:0009623 nose injury 04-non-disease +EFO:0009624 pulmonary alveolitis 02-disease-root +EFO:0009625 facial pain 04-non-disease +EFO:0009626 pyloric stenosis 02-disease-root +EFO:0009632 amputation 04-non-disease +EFO:0009636 cesarean section 04-non-disease +EFO:0009637 pleural effusion 04-non-disease +EFO:0009639 Braxton-Hicks contractions 04-non-disease +EFO:0009641 malaise 04-non-disease +EFO:0009642 follow-up 04-non-disease +EFO:0009643 pregnancy test 04-non-disease +EFO:0009644 neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 02-disease-root +EFO:0009645 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 02-disease-root +EFO:0009646 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 01-disease-subtype +EFO:0009647 epilepsy, hearing loss, and intellectual disability syndrome 02-disease-root +EFO:0009648 parp inhibitor response 04-non-disease +EFO:0009649 susceptibility to breast cancer 01-disease-subtype +EFO:0009650 hyperproinsulinemia 02-disease-root +EFO:0009651 rag2 deficiency 02-disease-root +EFO:0009652 neointimal hyperplasia 02-disease-root +EFO:0009657 acute pharyngitis 01-disease-subtype +EFO:0009658 adverse effect 04-non-disease +EFO:0009659 aneurysm 02-disease-root +EFO:0009660 anus disease 03-disease-area +EFO:0009661 bronchitis 02-disease-root +EFO:0009662 common wart 02-disease-root +EFO:0009663 disease of genitourinary system 03-disease-area +EFO:0009665 disorder of patella 02-disease-root +EFO:0009666 enthesopathy 02-disease-root +EFO:0009667 eustachian tube disease 02-disease-root +EFO:0009668 external ear disease 03-disease-area +EFO:0009669 flatulence 02-disease-root +EFO:0009670 gingival disease 03-disease-area +EFO:0009671 hereditary ataxia 03-disease-area +EFO:0009672 inner ear disease 03-disease-area +EFO:0009673 laryngeal disease 03-disease-area +EFO:0009674 lens disease 03-disease-area +EFO:0009675 melanocytic nevus 03-disease-area +EFO:0009676 musculoskeletal system disease 03-disease-area +EFO:0009677 occlusion precerebral artery 02-disease-root +EFO:0009678 paralytic strabismus 02-disease-root +EFO:0009679 paraplegia 02-disease-root +EFO:0009680 pleural empyema 02-disease-root +EFO:0009681 post term pregnancy 02-disease-root +EFO:0009682 pregnancy disorder 03-disease-area +EFO:0009683 puerperal disorder 02-disease-root +EFO:0009684 quadriplegia 02-disease-root +EFO:0009685 rectal disease 03-disease-area +EFO:0009686 respiratory failure 02-disease-root +EFO:0009687 somatoform disorder 02-disease-root +EFO:0009688 stomatitis 03-disease-area +EFO:0009689 urethral disease 03-disease-area +EFO:0009690 urinary system disease 03-disease-area +EFO:0009691 vestibular disease 03-disease-area +EFO:0009692 voice disorders 02-disease-root +EFO:0009693 thiopurine metabolite measurement 04-non-disease +EFO:0009694 beta-lactam allergy measurement 04-non-disease +EFO:0009697 pathological complete response 04-non-disease +EFO:0009698 gestational blood glucose measurement 04-non-disease +EFO:0009699 foot muscle strength measurement 04-non-disease +EFO:0009700 visual perception measurement 04-non-disease +EFO:0009701 visceral:total adipose tissue ratio 04-non-disease +EFO:0009702 intra-individual reaction time variability measurement 04-non-disease +EFO:0009703 red blood cell folate measurement 04-non-disease +EFO:0009704 radiation-induced brain injury 01-disease-subtype +EFO:0009705 small intestine enteropathy 02-disease-root +EFO:0009706 latent autoimmune diabetes in adults 01-disease-subtype +EFO:0009707 fractures, ununited 02-disease-root +EFO:0009708 metastasis 04-non-disease +EFO:0009709 metastatic neoplasm 03-disease-area +EFO:0009710 micrometastasis 02-disease-root +EFO:0009712 father's age at death 04-non-disease +EFO:0009713 number of siblings 04-non-disease +EFO:0009715 wheezing 04-non-disease +EFO:0009716 age at first facial hair 04-non-disease +EFO:0009717 bilateral oophorectomy 04-non-disease +EFO:0009718 peak expiratory flow 04-non-disease +EFO:0009719 artificial cardiac pacemaker 04-non-disease +EFO:0009720 able to hear with hearing aids 04-non-disease +EFO:0009721 mother's age at death 04-non-disease +EFO:0009722 number of stillbirths 04-non-disease +EFO:0009723 job satisfaction measurement 04-non-disease +EFO:0009724 health satisfaction measurement 04-non-disease +EFO:0009725 friendship satisfaction measurement 04-non-disease +EFO:0009726 financial situation satisfaction measurement 04-non-disease +EFO:0009727 shortness of breath 04-non-disease +EFO:0009728 cochlear implant 04-non-disease +EFO:0009729 surgery on leg artery 04-non-disease +EFO:0009730 polyarticular juvenile idiopathic arthritis 01-disease-subtype +EFO:0009731 polyarticular juvenile idiopathic arthritis, rheumatoid factor positive 01-disease-subtype +EFO:0009732 enthesitis-related juvenile idiopathic arthritis 01-disease-subtype +EFO:0009733 psoriasis-related juvenile idiopathic arthritis 01-disease-subtype +EFO:0009734 unspecified juvenile idiopathic arthritis 01-disease-subtype +EFO:0009745 persistent oligoarticular juvenile idiopathic arthritis 01-disease-subtype +EFO:0009746 extended oligoarticular juvenile idiopathic arthritis 01-disease-subtype +EFO:0009748 response to ketamine 04-non-disease +EFO:0009749 age at first sexual intercourse measurement 04-non-disease +EFO:0009750 dissociation measurement 04-non-disease +EFO:0009751 facial asymmetry measurement 04-non-disease +EFO:0009752 visuospatial impairment 02-disease-root +EFO:0009756 autoimmune type 1 diabetes 01-disease-subtype +EFO:0009757 idiopathic type 1 diabetes 01-disease-subtype +EFO:0009758 fulminant type 1 diabetes 01-disease-subtype +EFO:0009759 Chronic Obstructive Asthma 01-disease-subtype +EFO:0009760 non-proliferative diabetic retinopathy 01-disease-subtype +EFO:0009761 periprosthetic osteolysis 02-disease-root +EFO:0009762 healthspan 04-non-disease +EFO:0009764 eye colour measurement 04-non-disease +EFO:0009765 alanine measurement 04-non-disease +EFO:0009766 asparagine measurement 04-non-disease +EFO:0009767 glycine measurement 04-non-disease +EFO:0009768 glutamine measurement 04-non-disease +EFO:0009769 histidine measurement 04-non-disease +EFO:0009770 leucine measurement 04-non-disease +EFO:0009771 methionine measurement 04-non-disease +EFO:0009773 proline measurement 04-non-disease +EFO:0009774 serine measurement 04-non-disease +EFO:0009775 threonine measurement 04-non-disease +EFO:0009776 ornithine measurement 04-non-disease +EFO:0009777 citrulline measurement 04-non-disease +EFO:0009778 tri-iodothyronine measurement 04-non-disease +EFO:0009779 tri-iodothyronine/thyroxine ratio measurement 04-non-disease +EFO:0009780 HER2 negative breast carcinoma 01-disease-subtype +EFO:0009781 progesterone-receptor negative breast cancer 01-disease-subtype +EFO:0009782 progesterone-receptor positive breast cancer 01-disease-subtype +EFO:0009783 carotid atherosclerosis 01-disease-subtype +EFO:0009784 central serous retinopathy 02-disease-root +EFO:0009790 asparaginase activity measurement 04-non-disease +EFO:0009791 fatty acid desaturase enzyme activity measurement 04-non-disease +EFO:0009792 valine measurement 04-non-disease +EFO:0009793 isoleucine measurement 04-non-disease +EFO:0009794 NRF2 measurement 04-non-disease +EFO:0009795 serum urea measurement 04-non-disease +EFO:0009796 response to supplemental oxygen 04-non-disease +EFO:0009797 lung disease associated with cystic fibrosis 02-disease-root +EFO:0009804 pulse wave reflection index measurement 04-non-disease +EFO:0009805 whole body water mass 04-non-disease +EFO:0009806 total hip arthroplasty 04-non-disease +EFO:0009807 cadaver dissection 04-non-disease +EFO:0009812 secondary malignant neoplasm 03-disease-area +EFO:0009814 number of children fathered measurement 04-non-disease +EFO:0009815 CASCOT confidence score measurement 04-non-disease +EFO:0009816 perineal laceration during delivery 04-non-disease +EFO:0009825 sign or symptom concerning food and fluid intake 04-non-disease +EFO:0009826 abnormality of serum enzyme levels 04-non-disease +EFO:0009829 vascular smooth muscle hypertrophy 04-non-disease +EFO:0009832 cellular infiltration 04-non-disease +EFO:0009833 kidney injury 04-non-disease +EFO:0009834 respiratory process 04-non-disease +EFO:0009835 increased respiratory secretion 04-non-disease +EFO:0009836 bronchoconstriction 04-non-disease +EFO:0009837 bronchodilation 04-non-disease +EFO:0009838 alteration in respiration 04-non-disease +EFO:0009839 bradypnea 04-non-disease +EFO:0009840 tachypnea 04-non-disease +EFO:0009841 irregular respiration 04-non-disease +EFO:0009842 respiratory depression 04-non-disease +EFO:0009843 substance-induced sleep disorder 02-disease-root +EFO:0009844 nightmare 04-non-disease +EFO:0009845 catalepsy 02-disease-root +EFO:0009846 muscle cramp 04-non-disease +EFO:0009847 dizziness 04-non-disease +EFO:0009848 antiemetic effect 04-non-disease +EFO:0009849 sexual arousal 04-non-disease +EFO:0009850 masculinization of female, CTCAE 04-non-disease +EFO:0009851 muscle atrophy 04-non-disease +EFO:0009852 exhaustion 04-non-disease +EFO:0009853 convulsion 04-non-disease +EFO:0009854 treatment resistant depression 01-disease-subtype +EFO:0009855 frontal fibrosing alopecia 01-disease-subtype +EFO:0009856 lichen planopilaris 01-disease-subtype +EFO:0009857 ruminative stress response 04-non-disease +EFO:0009858 brooding stress response 04-non-disease +EFO:0009859 reflective stress response 04-non-disease +EFO:0009860 chromosomal aberration frequency 04-non-disease +EFO:0009861 chromosome-type aberration frequency 04-non-disease +EFO:0009862 chromatid-type aberration frequency 04-non-disease +EFO:0009863 anxiety measurement 04-non-disease +EFO:0009864 metabolic network measurement 04-non-disease +EFO:0009865 transcriptome measurement 04-non-disease +EFO:0009866 pulmonary vascular congestion 04-non-disease +EFO:0009867 dysphoria 02-disease-root +EFO:0009868 sedation 04-non-disease +EFO:0009869 xerostomia 04-non-disease +EFO:0009870 bone metastasis 04-non-disease +EFO:0009871 increased heart weight 04-non-disease +EFO:0009872 increased cardiac output 04-non-disease +EFO:0009873 decreased cardiac output 04-non-disease +EFO:0009874 decreased anxiety-related response 04-non-disease +EFO:0009875 thymus atrophy 04-non-disease +EFO:0009876 abnormal lipolysis 04-non-disease +EFO:0009877 decreased bone mass 04-non-disease +EFO:0009878 drug interaction 04-non-disease +EFO:0009879 gastric hemorrhage 04-non-disease +EFO:0009880 teratogenicity 01-disease-subtype +EFO:0009881 nonischemic cardiomyopathy 01-disease-subtype +EFO:0009882 urinary potassium to creatinine ratio 04-non-disease +EFO:0009883 urinary sodium to creatinine ratio 04-non-disease +EFO:0009884 urinary sodium to potassium ratio 04-non-disease +EFO:0009885 frailty measurement 04-non-disease +EFO:0009886 blood vessel injury 01-disease-subtype +EFO:0009887 intrathoracic organ injury 04-non-disease +EFO:0009888 trauma complication 04-non-disease +EFO:0009890 lean mass-adjusted fat body mass 04-non-disease +EFO:0009891 carbamazepine metabolite measurement 04-non-disease +EFO:0009892 facial attractiveness measurement 04-non-disease +EFO:0009893 response to oxcarbazepine 04-non-disease +EFO:0009894 carbamazepine-induced hyponatremia 04-non-disease +EFO:0009895 oxcarbazepine-induced hyponatremia 04-non-disease +EFO:0009896 anti-thyroglobulin antibody measurement 04-non-disease +EFO:0009902 handedness 04-non-disease +EFO:0009904 Lopes-Maciel-Rodan syndrome 02-disease-root +EFO:0009907 Desmoid-type fibromatosis 01-disease-subtype +EFO:0009908 glabellar hemangioma 02-disease-root +EFO:0009909 stage 5 chronic kidney disease 01-disease-subtype +EFO:0009910 chronic lung disease 03-disease-area +EFO:0009911 hereditary nonpolyposis colorectal carcinoma 02-disease-root +EFO:0009912 distal lower limb amyotrophy 02-disease-root +EFO:0009913 ossifying fibroma of the jaw 01-disease-subtype +EFO:0009923 Peptic ulcer and gastro-oesophageal reflux disease (GORD) drug use measurement 04-non-disease +EFO:0009924 Drugs used in diabetes use measurement 04-non-disease +EFO:0009925 Antithrombotic agent use measurement 04-non-disease +EFO:0009926 Vasodilators used in cardiac diseases use measurement 04-non-disease +EFO:0009927 Antihypertensive use measurement 04-non-disease +EFO:0009928 Diuretic use measurement 04-non-disease +EFO:0009929 Beta blocking agent use measurement 04-non-disease +EFO:0009930 Calcium channel blocker use measurement 04-non-disease +EFO:0009931 Agents acting on the renin-angiotensin system use measurement 04-non-disease +EFO:0009932 HMG CoA reductase inhibitor use measurement 04-non-disease +EFO:0009933 Thyroid preparation use measurement 04-non-disease +EFO:0009934 Immunosuppressant use measurement 04-non-disease +EFO:0009935 Non-steroidal anti-inflammatory and antirheumatic product use measurement 04-non-disease +EFO:0009936 Drugs affecting bone structure and mineralization use measurement 04-non-disease +EFO:0009937 Opioid use measurement 04-non-disease +EFO:0009938 Anilide use measurement 04-non-disease +EFO:0009939 Antimigraine preparation use measurement 04-non-disease +EFO:0009940 Antidepressant use measurement 04-non-disease +EFO:0009941 Inhalant adrenergic use measurement 04-non-disease +EFO:0009942 Glucocorticoid use measurement 04-non-disease +EFO:0009943 Antihistamine use measurement 04-non-disease +EFO:0009944 Antiglaucoma preparations and miotics use measurement 04-non-disease +EFO:0009945 psychological resilience measurement 04-non-disease +EFO:0009946 low density lipoprotein triglyceride measurement 04-non-disease +EFO:0009947 nucleoside diphosphate kinase A measurement 04-non-disease +EFO:0009948 chorioamnionitis 01-disease-subtype +EFO:0009949 KANNO antigen measurement 04-non-disease +EFO:0009950 disease of extraembryonic membrane 02-disease-root +EFO:0009951 response to surgery 04-non-disease +EFO:0009952 post-operative atrial fibrillation 01-disease-subtype +EFO:0009953 post-operative myocardial infarction 01-disease-subtype +EFO:0009954 post-operative delirium 01-disease-subtype +EFO:0009955 post-operative acute kidney injury 01-disease-subtype +EFO:0009956 post-operative stroke 01-disease-subtype +EFO:0009958 response to bisphosphonate 04-non-disease +EFO:0009959 diverticular disease 03-disease-area +EFO:0009960 atypical femoral fracture 02-disease-root +EFO:0009961 Insulinogenic index measurement 04-non-disease +EFO:0009962 response to radioiodine 04-non-disease +EFO:0009963 bipolar I disorder 01-disease-subtype +EFO:0009964 bipolar II disorder 01-disease-subtype +EFO:0009965 Schizoaffective disorder-bipolar type 02-disease-root +EFO:0010049 asthma symptoms measurement 04-non-disease +EFO:0010050 thyroglobulin measurement 04-non-disease +EFO:0010051 response to immunosuppressant 04-non-disease +EFO:0010052 response to tacrolimus 04-non-disease +EFO:0010053 response to cyclosporine 04-non-disease +EFO:0010054 response to mycophenolic acid 04-non-disease +EFO:0010055 response to calcineurin inhibitor 04-non-disease +EFO:0010056 liver iron measurement 04-non-disease +EFO:0010057 vascular cell adhesion molecule-1 measurement 04-non-disease +EFO:0010059 cerebral microbleeds 04-non-disease +EFO:0010060 chronic human papillomavirus infection 01-disease-subtype +EFO:0010062 response to salmeterol 04-non-disease +EFO:0010063 Therapeutic Procedure 04-non-disease +EFO:0010064 Pharmacotherapy 04-non-disease +EFO:0010065 response to intravenous immunoglobulin therapy 04-non-disease +EFO:0010066 corneal hysteresis 04-non-disease +EFO:0010067 corneal resistance factor 04-non-disease +EFO:0010068 respiratory symptom change measurement 04-non-disease +EFO:0010069 nerve conduction velocity 04-non-disease +EFO:0010070 nerve conduction amplitude 04-non-disease +EFO:0010071 cardiac troponin I measurement 04-non-disease +EFO:0010072 toothache 04-non-disease +EFO:0010073 number of teeth measurement 04-non-disease +EFO:0010074 trochanter size 04-non-disease +EFO:0010075 intertrochanteric region size 04-non-disease +EFO:0010076 femoral neck size 04-non-disease +EFO:0010077 response to belimumab 04-non-disease +EFO:0010078 dentures 04-non-disease +EFO:0010079 corneal endothelial cell measurement 04-non-disease +EFO:0010080 geographic atrophy lesion growth 04-non-disease +EFO:0010082 nerve conduction measurement 04-non-disease +EFO:0010083 dentate gyrus volume measurement 04-non-disease +EFO:0010084 anti-meningococcal C IgG measurement 04-non-disease +EFO:0010085 anti-tetanus toxoid IgG measurement 04-non-disease +EFO:0010086 anti-Haemophilus influenzae type b polyribosylribitol phosphate IgG measurement 04-non-disease +EFO:0010087 anti-meningococcal C serum bactericidal antibody measurement 04-non-disease +EFO:0010088 beverage consumption measurement 04-non-disease +EFO:0010089 bitter beverage consumption measurement 04-non-disease +EFO:0010090 sweet beverage consumption measurement 04-non-disease +EFO:0010091 tea consumption measurement 04-non-disease +EFO:0010092 bitter alcoholic beverage consumption measurement 04-non-disease +EFO:0010093 bitter non-alcoholic beverage consumption measurement 04-non-disease +EFO:0010094 grapefruit juice consumption measurement 04-non-disease +EFO:0010095 non-grapefruit juice consumption measurement 04-non-disease +EFO:0010096 artificially sweetened beverage consumption measurement 04-non-disease +EFO:0010097 sugar sweetened beverage consumption measurement 04-non-disease +EFO:0010098 stress-related disorder 03-disease-area +EFO:0010099 chronic widespread pain 04-non-disease +EFO:0010100 multisite chronic pain 04-non-disease +EFO:0010101 decreased susceptibility to hepatitis C infection 04-non-disease +EFO:0010103 response to peginterferon alfa-2a 04-non-disease +EFO:0010104 health literacy measurement 04-non-disease +EFO:0010105 CD4-positive T-lymphocyte count 04-non-disease +EFO:0010106 CD3-positive T-lymphocyte count 04-non-disease +EFO:0010107 CD8-positive T-lymphocyte count 04-non-disease +EFO:0010108 CD19-positive B-lymphocyte count 04-non-disease +EFO:0010109 CD56-positive NK-lymphocyte cell count 04-non-disease +EFO:0010110 ketone body measurement 04-non-disease +EFO:0010111 acetoacetate measurement 04-non-disease +EFO:0010112 acetate measurement 04-non-disease +EFO:0010113 3-hydroxybutyric acid measurement 04-non-disease +EFO:0010114 citrate measurement 04-non-disease +EFO:0010115 glycerol measurement 04-non-disease +EFO:0010116 choline measurement 04-non-disease +EFO:0010117 pyruvate measurement 04-non-disease +EFO:0010118 sphingomyelin measurement 04-non-disease +EFO:0010119 omega-3 polyunsaturated fatty acid measurement 04-non-disease +EFO:0010120 fasting blood glucose change measurement 04-non-disease +EFO:0010123 response to antiviral drug 04-non-disease +EFO:0010124 response to atorvastatin 04-non-disease +EFO:0010125 viral load 04-non-disease +EFO:0010126 time to first cigarette measurement 04-non-disease +EFO:0010127 serum immunoglobulin measurement 04-non-disease +EFO:0010128 immunoglobulin isotype switching measurement 04-non-disease +EFO:0010129 breakfast skipping measurement 04-non-disease +EFO:0010130 health study participation 04-non-disease +EFO:0010131 decreased walking ability 04-non-disease +EFO:0010132 decreased fine motor function 04-non-disease +EFO:0010133 diabetic maculopathy 01-disease-subtype +EFO:0010134 kidney transplant 04-non-disease +EFO:0010135 urine specific gravity measurement 04-non-disease +EFO:0010136 urinary pH measurement 04-non-disease +EFO:0010137 leukocyte esterase measurement 04-non-disease +EFO:0010138 nitrite measurement 04-non-disease +EFO:0010139 fish consumption measurement 04-non-disease +EFO:0010140 opioid overdose severity measurement 04-non-disease +EFO:0010141 sexual behavior 04-non-disease +EFO:0010142 same-sex sexual behavior 04-non-disease +EFO:0010143 chronic mountain sickness 01-disease-subtype +EFO:0010144 frontal lobe volume measurement 04-non-disease +EFO:0010145 occipital lobe volume measurement 04-non-disease +EFO:0010146 parietal lobe volume measurement 04-non-disease +EFO:0010147 temporal lobe volume measurement 04-non-disease +EFO:0010148 pepsinogen-I measurement 04-non-disease +EFO:0010149 pepsinogen I/II ratio 04-non-disease +EFO:0010150 anti-anoctamin 2 antibody measurement 04-non-disease +EFO:0010151 soluble triggering receptor expressed on myeloid cells 2 measurement 04-non-disease +EFO:0010152 response to phenylephrine 04-non-disease +EFO:0010154 platinum measurement 04-non-disease +EFO:0010155 taste liking measurement 04-non-disease +EFO:0010156 sweet liking measurement 04-non-disease +EFO:0010157 sucrose liking measurement 04-non-disease +EFO:0010158 sugar consumption measurement 04-non-disease +EFO:0010162 death in childhood 04-non-disease +EFO:0010163 dilatation of the sinus of Valsalva 01-disease-subtype +EFO:0010164 insulin-resistant diabetes mellitus 01-disease-subtype +EFO:0010165 Osteomyelitis leading to amputation due to slow healing fractures 01-disease-subtype +EFO:0010166 Warburg-Cinotti syndrome 02-disease-root +EFO:0010167 squalene synthase deficiency 02-disease-root +EFO:0010168 spondyloepiphyseal dysplasia, Kondo-Fu type 02-disease-root +EFO:0010176 keratinocyte carcinoma 03-disease-area +EFO:0010177 lobar intracerebral hemorrhage 01-disease-subtype +EFO:0010178 non-lobar intracerebral hemorrhage 01-disease-subtype +EFO:0010219 aldosterone measurement 04-non-disease +EFO:0010220 17-hydroxyprogesterone measurement 04-non-disease +EFO:0010221 systemising measurement 04-non-disease +EFO:0010222 ceramide measurement 04-non-disease +EFO:0010223 diglyceride measurement 04-non-disease +EFO:0010224 lysophosphatidylcholine measurement 04-non-disease +EFO:0010225 lysophosphatidylethanolamine measurement 04-non-disease +EFO:0010226 phosphatidylcholine measurement 04-non-disease +EFO:0010227 phosphatidylcholine ether measurement 04-non-disease +EFO:0010228 phosphatidylethanolamine measurement 04-non-disease +EFO:0010229 phosphatidylethanolamine ether measurement 04-non-disease +EFO:0010230 phosphatidylinositol measurement 04-non-disease +EFO:0010231 sterol measurement 04-non-disease +EFO:0010232 osteocalcin measurement 04-non-disease +EFO:0010233 genotoxic compound exposure measurement 04-non-disease +EFO:0010234 viral subtype carrier status 04-non-disease +EFO:0010235 response to proton-pump inhibitor 04-non-disease +EFO:0010238 perinatal disease 03-disease-area +EFO:0010239 cortisol:DHEAS ratio measurement 04-non-disease +EFO:0010240 dehydroepiandrosterone measurement 04-non-disease +EFO:0010241 galectin-3-binding protein measurement 04-non-disease +EFO:0010242 beta globulin measurement 04-non-disease +EFO:0010243 inorganic ion measurement 04-non-disease +EFO:0010244 uveal melanoma disease severity 04-non-disease +EFO:0010245 oxytocin measurement 04-non-disease +EFO:0010248 spinocerebellar ataxia, autosomal recessive, 27 01-disease-subtype +EFO:0010249 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 01-disease-subtype +EFO:0010250 polydactyly, postaxial, A9 01-disease-subtype +EFO:0010251 spinocerebellar ataxia 48 01-disease-subtype +EFO:0010252 Menke-Hennekam syndrome 1 02-disease-root +EFO:0010253 Menke-Hennekam syndrome 2 02-disease-root +EFO:0010255 metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression 02-disease-root +EFO:0010256 neurodegeneration, childhood-onset, with cerebellar atrophy 02-disease-root +EFO:0010257 global developmental delay, progressive ataxia, and elevated glutamine 02-disease-root +EFO:0010258 inflammatory bowel disease, immunodeficiency, and encephalopathy 02-disease-root +EFO:0010259 intellectual developmental disorder with macrocephaly, seizures, and speech delay 02-disease-root +EFO:0010260 global developmental delay with or without impaired intellectual development 02-disease-root +EFO:0010261 Paganini-Miozzo syndrome 01-disease-subtype +EFO:0010262 leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate 02-disease-root +EFO:0010263 gastrointestinal ulceration, recurrent, with dysfunctional platelets 02-disease-root +EFO:0010264 spinal muscular atrophy, lower extremity-predominant, 2B, prenatal onset, autosomal dominant 02-disease-root +EFO:0010266 Charcot-Marie-Tooth disease type 1G 01-disease-subtype +EFO:0010267 autosomal dominant intermediate Charcot-Marie-Tooth disease type G 01-disease-subtype +EFO:0010268 brain abnormalities, neurodegeneration, and dysosteosclerosis 02-disease-root +EFO:0010269 amenorrhea 01-disease-subtype +EFO:0010270 Menstrual disorder 02-disease-root +EFO:0010271 bacterial pathogen genotype measurement 04-non-disease +EFO:0010272 abdominal aortic calcification measurement 04-non-disease +EFO:0010273 thoracic aortic calcification measurement 04-non-disease +EFO:0010274 thoracic aortic artery calcification 04-non-disease +EFO:0010276 neurodevelopmental disorder with seizures and non-epileptic hyperkinetic movements 02-disease-root +EFO:0010277 O'Donnell-Luria-Rodan syndrome 02-disease-root +EFO:0010278 Shukla-Vernon syndrome 02-disease-root +EFO:0010279 GIST-plus syndrome 02-disease-root +EFO:0010280 intellectual developmental disorder, autosomal recessive 71 02-disease-root +EFO:0010282 gastrointestinal disease 03-disease-area +EFO:0010283 blood disease 03-disease-area +EFO:0010284 hepatobiliary disease 03-disease-area +EFO:0010285 integumentary system disease 03-disease-area +EFO:0010286 banks of the superior temporal sulcus volume measurement 04-non-disease +EFO:0010287 brain cortex volume measurement 04-non-disease +EFO:0010288 brain density measurement 04-non-disease +EFO:0010289 caudal anterior cingulate cortex volume measurement 04-non-disease +EFO:0010290 caudal middle frontal gyrus volume measurement 04-non-disease +EFO:0010291 cerebellar cortex volume measurement 04-non-disease +EFO:0010292 cerebral cortex volume measurement 04-non-disease +EFO:0010293 choroid plexus volume measurement 04-non-disease +EFO:0010294 cingulate cortex volume measurement 04-non-disease +EFO:0010295 corpus callosum anterior volume measurement 04-non-disease +EFO:0010296 corpus callosum central volume measurement 04-non-disease +EFO:0010297 corpus callosum mid-anterior volume measurement 04-non-disease +EFO:0010298 corpus callosum posterior volume measurement 04-non-disease +EFO:0010299 corpus callosum volume measurement 04-non-disease +EFO:0010300 corpus collosum mid-posterior volume measurement 04-non-disease +EFO:0010301 cuneus cortex volume measurement 04-non-disease +EFO:0010302 entorhinal cortex volume measurement 04-non-disease +EFO:0010303 fourth ventricle volume measurement 04-non-disease +EFO:0010304 frontal pole volume measurement 04-non-disease +EFO:0010305 fusiform gyrus volume measurement 04-non-disease +EFO:0010306 Grey matter density measurement 04-non-disease +EFO:0010307 inferior parietal cortex volume measurement 04-non-disease +EFO:0010308 inferior temporal gyrus volume measurement 04-non-disease +EFO:0010309 insular cortex volume measurement 04-non-disease +EFO:0010310 isthmus cingulate cortex volume measurement 04-non-disease +EFO:0010311 lateral occipital cortex volume measurement 04-non-disease +EFO:0010312 lateral orbital frontal cortex volume measurement 04-non-disease +EFO:0010313 limbic lobe volume measurement 04-non-disease +EFO:0010314 lingual gyrus volume measurement 04-non-disease +EFO:0010315 medial orbital frontal cortex volume measurement 04-non-disease +EFO:0010316 middle temporal gyrus volume measurement 04-non-disease +EFO:0010317 paracentral lobule volume measurement 04-non-disease +EFO:0010318 parahippocampal gyrus volume measurement 04-non-disease +EFO:0010319 pars opercularis volume measurement 04-non-disease +EFO:0010320 pars orbitalis volume measurement 04-non-disease +EFO:0010321 pars triangularis volume measurement 04-non-disease +EFO:0010322 pericalcarine cortex volume measurement 04-non-disease +EFO:0010323 postcentral gyrus volume measurement 04-non-disease +EFO:0010324 posterior cingulate cortex volume measurement 04-non-disease +EFO:0010325 precentral gyrus volume measurement 04-non-disease +EFO:0010326 precuneus cortex volume measurement 04-non-disease +EFO:0010327 rostral anterior cingulate cortex volume measurement 04-non-disease +EFO:0010328 rostral middle frontal gyrus volume measurement 04-non-disease +EFO:0010329 superior frontal gyrus volume measurement 04-non-disease +EFO:0010330 superior parietal cortex volume measurement 04-non-disease +EFO:0010331 superior temporal gyrus volume measurement 04-non-disease +EFO:0010332 supramarginal gyrus volume measurement 04-non-disease +EFO:0010333 temporal horn of lateral ventricle volume measurement 04-non-disease +EFO:0010334 temporal pole volume measurement 04-non-disease +EFO:0010335 third ventricle volume measurement 04-non-disease +EFO:0010336 transverse temporal cortex volume measurement 04-non-disease +EFO:0010337 ventral diencephalon volume measurement 04-non-disease +EFO:0010339 FVC change measurement 04-non-disease +EFO:0010340 cholesteryl ester 14:0 measurement 04-non-disease +EFO:0010341 cholesteryl ester 16:0 measurement 04-non-disease +EFO:0010342 cholesteryl ester 16:1 measurement 04-non-disease +EFO:0010343 cholesteryl ester 18:0 measurement 04-non-disease +EFO:0010344 cholesteryl ester 18:1 measurement 04-non-disease +EFO:0010345 cholesteryl ester 18:2 measurement 04-non-disease +EFO:0010346 cholesteryl ester 18:3 measurement 04-non-disease +EFO:0010347 cholesteryl ester 20:3 measurement 04-non-disease +EFO:0010348 cholesteryl ester 20:4 measurement 04-non-disease +EFO:0010349 cholesteryl ester 20:5 measurement 04-non-disease +EFO:0010350 cholesteryl ester 22:6 measurement 04-non-disease +EFO:0010351 cholesteryl ester measurement 04-non-disease +EFO:0010352 diacylglycerol 34:1 measurement 04-non-disease +EFO:0010353 diacylglycerol 34:2 measurement 04-non-disease +EFO:0010354 diacylglycerol 36:1 measurement 04-non-disease +EFO:0010355 diacylglycerol 36:2 measurement 04-non-disease +EFO:0010356 lysophosphatidylcholine 14:0 measurement 04-non-disease +EFO:0010357 lysophosphatidylcholine 16:0 measurement 04-non-disease +EFO:0010358 lysophosphatidylcholine 16:1 measurement 04-non-disease +EFO:0010359 lysophosphatidylcholine 18:0 measurement 04-non-disease +EFO:0010360 lysophosphatidylcholine 18:1 measurement 04-non-disease +EFO:0010361 lysophosphatidylcholine 18:2 measurement 04-non-disease +EFO:0010362 lysophosphatidylcholine 20:3 measurement 04-non-disease +EFO:0010363 lysophosphatidylcholine 20:4 measurement 04-non-disease +EFO:0010364 lysophosphatidylcholine 20:5 measurement 04-non-disease +EFO:0010365 lysophosphatidylcholine 22:6 measurement 04-non-disease +EFO:0010366 lysophosphatidylethanolamine 16:0 measurement 04-non-disease +EFO:0010367 lysophosphatidylethanolamine 18:0 measurement 04-non-disease +EFO:0010368 lysophosphatidylethanolamine 18:1 measurement 04-non-disease +EFO:0010369 lysophosphatidylethanolamine 18:2 measurement 04-non-disease +EFO:0010370 lysophosphatidylethanolamine 20:4 measurement 04-non-disease +EFO:0010371 lysophosphatidylethanolamine 22:6 measurement 04-non-disease +EFO:0010372 phosphatidylcholine 32:0 measurement 04-non-disease +EFO:0010373 phosphatidylcholine 32:1 measurement 04-non-disease +EFO:0010374 phosphatidylcholine 32:2 measurement 04-non-disease +EFO:0010375 phosphatidylcholine 34:1 measurement 04-non-disease +EFO:0010376 phosphatidylcholine 34:2 measurement 04-non-disease +EFO:0010377 phosphatidylcholine 34:3 measurement 04-non-disease +EFO:0010378 phosphatidylcholine 34:4 measurement 04-non-disease +EFO:0010379 phosphatidylcholine 36:1 measurement 04-non-disease +EFO:0010380 phosphatidylcholine 36:2 measurement 04-non-disease +EFO:0010381 phosphatidylcholine 36:3 measurement 04-non-disease +EFO:0010382 phosphatidylcholine 36:4 measurement 04-non-disease +EFO:0010383 phosphatidylcholine 36:5 measurement 04-non-disease +EFO:0010384 phosphatidylcholine 38:2 measurement 04-non-disease +EFO:0010385 phosphatidylcholine 38:3 measurement 04-non-disease +EFO:0010386 phosphatidylcholine 38:4 measurement 04-non-disease +EFO:0010387 phosphatidylcholine 38:5 measurement 04-non-disease +EFO:0010388 phosphatidylcholine 38:6 measurement 04-non-disease +EFO:0010389 phosphatidylcholine 40:6 measurement 04-non-disease +EFO:0010390 sphingomyelin 14:0 measurement 04-non-disease +EFO:0010391 sphingomyelin 16:0 measurement 04-non-disease +EFO:0010392 sphingomyelin 16:1 measurement 04-non-disease +EFO:0010393 sphingomyelin 18:0 measurement 04-non-disease +EFO:0010394 sphingomyelin 18:1 measurement 04-non-disease +EFO:0010395 sphingomyelin 22:0 measurement 04-non-disease +EFO:0010396 sphingomyelin 22:1 measurement 04-non-disease +EFO:0010397 sphingomyelin 24:0 measurement 04-non-disease +EFO:0010398 sphingomyelin 24:1 measurement 04-non-disease +EFO:0010399 triacylglycerol 44:1 measurement 04-non-disease +EFO:0010400 triacylglycerol 46:0 measurement 04-non-disease +EFO:0010401 triacylglycerol 46:1 measurement 04-non-disease +EFO:0010402 triacylglycerol 46:2 measurement 04-non-disease +EFO:0010403 triacylglycerol 48:0 measurement 04-non-disease +EFO:0010404 triacylglycerol 48:1 measurement 04-non-disease +EFO:0010405 triacylglycerol 48:2 measurement 04-non-disease +EFO:0010406 triacylglycerol 48:3 measurement 04-non-disease +EFO:0010407 triacylglycerol 48:4 measurement 04-non-disease +EFO:0010408 triacylglycerol 50:1 measurement 04-non-disease +EFO:0010409 triacylglycerol 50:2 measurement 04-non-disease +EFO:0010410 triacylglycerol 50:3 measurement 04-non-disease +EFO:0010411 triacylglycerol 50:4 measurement 04-non-disease +EFO:0010412 triacylglycerol 50:5 measurement 04-non-disease +EFO:0010413 triacylglycerol 52:1 measurement 04-non-disease +EFO:0010414 triacylglycerol 52:2 measurement 04-non-disease +EFO:0010415 triacylglycerol 52:3 measurement 04-non-disease +EFO:0010416 triacylglycerol 52:4 measurement 04-non-disease +EFO:0010417 triacylglycerol 52:5 measurement 04-non-disease +EFO:0010418 triacylglycerol 52:6 measurement 04-non-disease +EFO:0010419 triacylglycerol 54:1 measurement 04-non-disease +EFO:0010420 triacylglycerol 54:2 measurement 04-non-disease +EFO:0010421 triacylglycerol 54:3 measurement 04-non-disease +EFO:0010422 triacylglycerol 54:4 measurement 04-non-disease +EFO:0010423 triacylglycerol 54:5 measurement 04-non-disease +EFO:0010424 triacylglycerol 54:6 measurement 04-non-disease +EFO:0010425 triacylglycerol 54:7 measurement 04-non-disease +EFO:0010426 triacylglycerol 54:8 measurement 04-non-disease +EFO:0010427 triacylglycerol 54:9 measurement 04-non-disease +EFO:0010428 triacylglycerol 56:10 measurement 04-non-disease +EFO:0010429 triacylglycerol 56:2 measurement 04-non-disease +EFO:0010430 triacylglycerol 56:3 measurement 04-non-disease +EFO:0010431 triacylglycerol 56:4 measurement 04-non-disease +EFO:0010432 triacylglycerol 56:5 measurement 04-non-disease +EFO:0010433 triacylglycerol 56:6 measurement 04-non-disease +EFO:0010434 triacylglycerol 56:7 measurement 04-non-disease +EFO:0010435 triacylglycerol 56:8 measurement 04-non-disease +EFO:0010436 triacylglycerol 56:9 measurement 04-non-disease +EFO:0010437 triacylglycerol 58:10 measurement 04-non-disease +EFO:0010438 triacylglycerol 58:11 measurement 04-non-disease +EFO:0010439 triacylglycerol 58:12 measurement 04-non-disease +EFO:0010440 triacylglycerol 58:6 measurement 04-non-disease +EFO:0010441 triacylglycerol 58:7 measurement 04-non-disease +EFO:0010442 triacylglycerol 58:8 measurement 04-non-disease +EFO:0010443 triacylglycerol 58:9 measurement 04-non-disease +EFO:0010444 triacylglycerol 60:12 measurement 04-non-disease +EFO:0010445 cocaine use disorder 02-disease-root +EFO:0010446 2-hydroxyglutaric acid measurement 04-non-disease +EFO:0010447 3-hydroxyanthranilic acid measurement 04-non-disease +EFO:0010448 3-hydroxyphenylacetic acid measurement 04-non-disease +EFO:0010449 3-methyladipic acid measurement 04-non-disease +EFO:0010450 3-phosphoglyceric acid 04-non-disease +EFO:0010451 aconitate measurement 04-non-disease +EFO:0010452 adenosine diphosphate measurement 04-non-disease +EFO:0010453 adenosine measurement 04-non-disease +EFO:0010454 adenosine monophosphate measurement 04-non-disease +EFO:0010455 adipic acid mesurement 04-non-disease +EFO:0010456 allantoin measurement 04-non-disease +EFO:0010457 Alpha ketoglutarate measurement 04-non-disease +EFO:0010458 alpha-hydroxybutyric acid measurement 04-non-disease +EFO:0010459 aminoadipic acid measurement 04-non-disease +EFO:0010460 anthranilic acid measurement 04-non-disease +EFO:0010461 argininosuccinate measurement 04-non-disease +EFO:0010462 aspartate measurement 04-non-disease +EFO:0010463 asymmetric dimethylarginine measurement 04-non-disease +EFO:0010464 beta-aminoisobutyric acid measurement 04-non-disease +EFO:0010465 beta-hydroxybutyric acid measurement 04-non-disease +EFO:0010466 carboxamide measurement 04-non-disease +EFO:0010467 carboxylic acid anion measurement 04-non-disease +EFO:0010468 carboxylic acid measurement 04-non-disease +EFO:0010469 carnitine measurement 04-non-disease +EFO:0010470 carnosine measurement 04-non-disease +EFO:0010471 chenodeoxycholate measurement 04-non-disease +EFO:0010472 creatine measurement 04-non-disease +EFO:0010473 cyclic adenosine monophosphate measurement 04-non-disease +EFO:0010474 cystathionine measurement 04-non-disease +EFO:0010475 deoxycholate measurement 04-non-disease +EFO:0010476 dimethylglycine measurement 04-non-disease +EFO:0010477 fructose measurement 04-non-disease +EFO:0010478 fructose-1-phosphate measurement 04-non-disease +EFO:0010479 fructose-6-phosphate measurement 04-non-disease +EFO:0010480 fumarate measurement 04-non-disease +EFO:0010481 galactose measurement 04-non-disease +EFO:0010482 gamma-aminoisobutyric acid measurement 04-non-disease +EFO:0010483 gentisic acid measurement 04-non-disease +EFO:0010484 glucose-1-phosphate measurement 04-non-disease +EFO:0010485 glucose-6-phosphate measurement 04-non-disease +EFO:0010486 glucuronate measurement 04-non-disease +EFO:0010487 glutamate measurement 04-non-disease +EFO:0010488 glycerol-3-phosphate measurement 04-non-disease +EFO:0010489 glycerophosphocholine measurement 04-non-disease +EFO:0010490 glycochenodeoxycholate measurement 04-non-disease +EFO:0010491 glycocholate measurement 04-non-disease +EFO:0010492 glycocholic acid measurement 04-non-disease +EFO:0010493 glycodeoxycholate measurement 04-non-disease +EFO:0010494 guanosine diphosphate measurement 04-non-disease +EFO:0010495 guanosine monophosphate measurement 04-non-disease +EFO:0010496 hippuric acid measurement 04-non-disease +EFO:0010497 hydroxide measurement 04-non-disease +EFO:0010498 hydroxyproline measurement 04-non-disease +EFO:0010499 hyodeoxycholate measurement 04-non-disease +EFO:0010500 hypoxanthine mesurement 04-non-disease +EFO:0010501 indole-3-propionate measurement 04-non-disease +EFO:0010502 indoxyl sulfate measurement 04-non-disease +EFO:0010503 inosine measurement 04-non-disease +EFO:0010504 inositol measurement 04-non-disease +EFO:0010505 isocitrate measurement 04-non-disease +EFO:0010506 kynurenic acid measurement 04-non-disease +EFO:0010507 lactose measurement 04-non-disease +EFO:0010508 malate measurement 04-non-disease +EFO:0010509 maleate measurement 04-non-disease +EFO:0010510 NG-monomethyl-arginine measurement 04-non-disease +EFO:0010511 niacinamide measurement 04-non-disease +EFO:0010512 nucleoside measurement 04-non-disease +EFO:0010513 nucleotide measurement 04-non-disease +EFO:0010514 organic anion measurement 04-non-disease +EFO:0010515 organic cation measurement 04-non-disease +EFO:0010516 orotic acid measurement 04-non-disease +EFO:0010517 oxalate measurement 04-non-disease +EFO:0010518 oxide measurement 04-non-disease +EFO:0010519 pantothenic acid mesurement 04-non-disease +EFO:0010520 peptide measurement 04-non-disease +EFO:0010521 phosphocreatine measurement 04-non-disease +EFO:0010522 phosphoenolpyruvic acid measurement 04-non-disease +EFO:0010523 phosphoglyceric acid measurement 04-non-disease +EFO:0010524 pimelic acid measurement 04-non-disease +EFO:0010525 propionic acid measurement 04-non-disease +EFO:0010526 purine measurement 04-non-disease +EFO:0010527 pyridoxate measurement 04-non-disease +EFO:0010528 quinolinic acid measurement 04-non-disease +EFO:0010529 ribose-5-phosphate measurement 04-non-disease +EFO:0010530 ribulose-5-phosphate measurement 04-non-disease +EFO:0010531 S-adenosylhomocysteine measurement 04-non-disease +EFO:0010532 salicylurate measurement 04-non-disease +EFO:0010533 sorbitol measurement 04-non-disease +EFO:0010534 suberic acid measurement 04-non-disease +EFO:0010535 sucrose measurement 04-non-disease +EFO:0010536 taurine measurement 04-non-disease +EFO:0010537 taurochenodeoxycholate measurement 04-non-disease +EFO:0010538 taurocholate measurement 04-non-disease +EFO:0010539 taurodeoxycholate measurement 04-non-disease +EFO:0010540 thiamine measurement 04-non-disease +EFO:0010541 trimethylamine-N-oxide measurement 04-non-disease +EFO:0010542 ureidopropionic acid measurement 04-non-disease +EFO:0010543 uridine diphosphate galactose measurement 04-non-disease +EFO:0010544 uridine diphosphate glucose measurement 04-non-disease +EFO:0010545 uridine diphosphate measurement 04-non-disease +EFO:0010546 uridine measurement 04-non-disease +EFO:0010547 ursodeoxycholate measurement 04-non-disease +EFO:0010548 xanthine measurement 04-non-disease +EFO:0010549 xanthosine measurement 04-non-disease +EFO:0010551 xanthurenate measurement 04-non-disease +EFO:0010552 social environment measurement 04-non-disease +EFO:0010553 cocaine use measurement 04-non-disease +EFO:0010554 retinal vasculature measurement 04-non-disease +EFO:0010555 left ventricular stroke volume measurement 04-non-disease +EFO:0010556 Left ventricular mass to end-diastolic volume ratio 04-non-disease +EFO:0010557 lactose tolerance test 04-non-disease +EFO:0010559 anti-drug antibody measurement 04-non-disease +EFO:0010560 neurodevelopmental disorder with ataxia, hypotonia, and microcephaly 02-disease-root +EFO:0010561 neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies 02-disease-root +EFO:0010562 neurodevelopmental disorder with cerebellar hypoplasia and spasticity 02-disease-root +EFO:0010563 neurodevelopmental disorder with structural brain anomalies and dysmorphic facies 02-disease-root +EFO:0010564 glycosylphosphatidylinositol biosynthesis defect 21 02-disease-root +EFO:0010565 myopathy, congenital, progressive, with scoliosis 01-disease-subtype +EFO:0010566 intellectual developmental disorder 60 with seizures 02-disease-root +EFO:0010567 spastic tetraplegia and axial hypotonia, progressive 02-disease-root +EFO:0010568 neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities 02-disease-root +EFO:0010570 ventricular enlargement measurement 04-non-disease +EFO:0010572 growth rate measurement 04-non-disease +EFO:0010573 kallikrein-11 measurement 04-non-disease +EFO:0010574 epithelial cell adhesion molecule measurement 04-non-disease +EFO:0010575 vascular endothelial growth factor D measurement 04-non-disease +EFO:0010576 liver fibrosis measurement 04-non-disease +EFO:0010577 response to dimethyl fumarate 04-non-disease +EFO:0010580 blastic plasmacytoid dendritic cell neoplasm 01-disease-subtype +EFO:0010581 organophosphate poisoning 04-non-disease +EFO:0010582 Morton Neuroma 01-disease-subtype +EFO:0010583 alpha fetoprotein measurement 04-non-disease +EFO:0010584 cancer antigen 19.9 measurement 04-non-disease +EFO:0010585 cancer antigen 15.3 measurement 04-non-disease +EFO:0010586 CD40 measurement 04-non-disease +EFO:0010587 interleukin-2 receptor subunit alpha measurement 04-non-disease +EFO:0010588 matrix metalloproteinase 1 measurement 04-non-disease +EFO:0010589 matrix metalloproteinase 10 measurement 04-non-disease +EFO:0010590 matrix metalloproteinase 12 measurement 04-non-disease +EFO:0010591 matrix metalloproteinase 7 measurement 04-non-disease +EFO:0010592 tumor necrosis factor ligand superfamily member 8 measurement 04-non-disease +EFO:0010593 cystatin B measurement 04-non-disease +EFO:0010594 Fms-related tyrosine kinase 3 ligand measurement 04-non-disease +EFO:0010595 heat shock protein beta-1 measurement 04-non-disease +EFO:0010596 monocyte chemotactic protein 1 measurement 04-non-disease +EFO:0010597 NF-kappa-B essential modulator measurement 04-non-disease +EFO:0010598 platelet endothelial cell adhesion molecule measurement 04-non-disease +EFO:0010599 ST2 protein measurement 04-non-disease +EFO:0010600 angiopoietin-1 receptor measurement 04-non-disease +EFO:0010601 hepatitis A virus cellular receptor 1 measurement 04-non-disease +EFO:0010602 brain age measurement 04-non-disease +EFO:0010603 cancer antigen 125 measurement 04-non-disease +EFO:0010604 urine volume measurement 04-non-disease +EFO:0010605 brain stem volume measurement 04-non-disease +EFO:0010606 sclerostin measurement 04-non-disease +EFO:0010607 tumor necrosis factor, receptor superfamily, member 5 measurement 04-non-disease +EFO:0010608 stromelysin‐1 measurement 04-non-disease +EFO:0010609 mucin‐16 measurement 04-non-disease +EFO:0010610 tumor necrosis factor receptor superfamily member 6 measurement 04-non-disease +EFO:0010611 cathepsin D measurement 04-non-disease +EFO:0010612 kit ligand measurement 04-non-disease +EFO:0010613 tumor necrosis factor ligand superfamily member 14 measurement 04-non-disease +EFO:0010614 follistatin measurement 04-non-disease +EFO:0010615 galanin peptides measurement 04-non-disease +EFO:0010616 renin measurement 04-non-disease +EFO:0010617 tumor necrosis factor ligand superfamily member 11 measurement 04-non-disease +EFO:0010618 pappalysin‐1 measurement 04-non-disease +EFO:0010619 cathepsin L1 measurement 04-non-disease +EFO:0010620 dickkopf‐related protein 1 measurement 04-non-disease +EFO:0010621 stromelysin‐2 measurement 04-non-disease +EFO:0010622 kallikrein‐6 measurement 04-non-disease +EFO:0010623 tissue factor measurement 04-non-disease +EFO:0010624 tumor necrosis factor receptor superfamily member 1B measurement 04-non-disease +EFO:0010625 xaa‐pro aminopeptidase 2 measurement 04-non-disease +EFO:0010626 placenta growth factor measurement 04-non-disease +EFO:0010627 pro‐adrenomedullin measurement 04-non-disease +EFO:0010628 natriuretic peptides B measurement 04-non-disease +EFO:0010629 pro‐interleukin‐16 measurement 04-non-disease +EFO:0010630 intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies 02-disease-root +EFO:0010631 neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies 02-disease-root +EFO:0010632 Lessel-Kubisch syndrome 02-disease-root +EFO:0010633 Siddiqi syndrome 02-disease-root +EFO:0010634 Snijders Blok-Fisher syndrome 02-disease-root +EFO:0010635 Weiss-Kruszka syndrome 02-disease-root +EFO:0010636 pontocerebellar hypoplasia type 13 01-disease-subtype +EFO:0010637 salivary metabolite measurement 04-non-disease +EFO:0010638 atopic asthma 01-disease-subtype +EFO:0010639 pain measurement 04-non-disease +EFO:0010640 chronic post-operative pain measurement 04-non-disease +EFO:0010641 3-ureidopropionate measurement 04-non-disease +EFO:0010642 Neurodevelopmental disorder 02-disease-root +EFO:0010643 Snijders Blok-Campeau syndrome 02-disease-root +EFO:0010644 Developmental delay with variable intellectual impairment and behavioural abnormalities 02-disease-root +EFO:0010645 Cardiac-urogenital syndrome 02-disease-root +EFO:0010646 genetic non-acquired premature ovarian failure 02-disease-root +EFO:0010647 STAT3 gain of function 02-disease-root +EFO:0010648 response to vitamin B3 04-non-disease +EFO:0010649 immunophenotype 04-non-disease +EFO:0010650 creativity measurement 04-non-disease +EFO:0010651 intellectual developmental disorder with impaired language and dysmorphic facies 02-disease-root +EFO:0010652 intellectual developmental disorder with short stature and behavioral abnormalities 02-disease-root +EFO:0010653 intellectual developmental disorder with speech delay, autism and dysmorphic facies 02-disease-root +EFO:0010654 intellectual developmental disorder, autosomal recessive 72 02-disease-root +EFO:0010655 megabladder, congenital 02-disease-root +EFO:0010656 mitochondrial complex V deficiency, nuclear type 6 02-disease-root +EFO:0010657 neurodevelopmental disorder with absent language and variable seizures 01-disease-subtype +EFO:0010658 neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia 02-disease-root +EFO:0010659 neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies 02-disease-root +EFO:0010660 neurodevelopmental disorder with macrocephaly and with or without seizures 02-disease-root +EFO:0010661 neurodevelopmental disorder with non-specific brain abnormalities and with or without seizures 02-disease-root +EFO:0010662 neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies 02-disease-root +EFO:0010663 neurooculocardiogenitourinary syndrome 02-disease-root +EFO:0010664 pulmonary fibrosis, and/or bone marrow failure, telomere-related, 5 01-disease-subtype +EFO:0010665 short stature and microcephaly with genital anomalies 02-disease-root +EFO:0010670 abnormal chest sounds 04-non-disease +EFO:0010671 arterial embolism 02-disease-root +EFO:0010672 blood vessel replacement 04-non-disease +EFO:0010673 cardiac transplant 04-non-disease +EFO:0010674 cardioverter defibrillator 04-non-disease +EFO:0010675 chronic venous hypertension 02-disease-root +EFO:0010676 cornea transplantation 04-non-disease +EFO:0010677 cytological, histological or immunological finding 04-non-disease +EFO:0010678 eye discharge 04-non-disease +EFO:0010679 eye swelling 04-non-disease +EFO:0010680 hematoma 04-non-disease +EFO:0010681 ileostomy 04-non-disease +EFO:0010682 liver transplant 04-non-disease +EFO:0010683 localized superficial swelling, mass, or lump 04-non-disease +EFO:0010684 malunion fracture 02-disease-root +EFO:0010685 menopausal or post-menopausal disease 02-disease-root +EFO:0010686 muscle strain 04-non-disease +EFO:0010687 neonatal erythema toxicum 02-disease-root +EFO:0010688 periapical tissue disease 02-disease-root +EFO:0010689 perineum disease 02-disease-root +EFO:0010690 renal dialysis 04-non-disease +EFO:0010691 retroperitoneal infection 02-disease-root +EFO:0010692 subcutaneous tissue infection 02-disease-root +EFO:0010693 tooth-supporting structures disease 02-disease-root +EFO:0010694 total parenteral nutrition 04-non-disease +EFO:0010695 elevated lactate dehydrogenase 04-non-disease +EFO:0010696 soluble gp130 measurement 04-non-disease +EFO:0010698 retinal break 02-disease-root +EFO:0010699 diffuse plaque measurement 04-non-disease +EFO:0010700 reticulocyte measurement 04-non-disease +EFO:0010701 mean reticulocyte volume 04-non-disease +EFO:0010702 opioid use disorder 02-disease-root +EFO:0010703 trauma exposure measurement 04-non-disease +EFO:0010707 trans-3-hydroxycotinine measurement 04-non-disease +EFO:0010716 coinfection 02-disease-root +EFO:0010717 afebrile 04-non-disease +EFO:0010718 response to amisulpride 04-non-disease +EFO:0010719 continuous positive airway pressure 04-non-disease +EFO:0010720 invasive mechanical ventilation 04-non-disease +EFO:0010721 lung transplantation 04-non-disease +EFO:0010722 ophthalmic procedure 04-non-disease +EFO:0010723 ocular sarcoidosis 01-disease-subtype +EFO:0010724 lifestyle measurement 04-non-disease +EFO:0010725 aseptic loosening 04-non-disease +EFO:0010726 total joint arthroplasty 04-non-disease +EFO:0010729 sun exposure measurement 04-non-disease +EFO:0010730 response to bezlotoxumab 04-non-disease +EFO:0010731 response to low calorie diet 04-non-disease +EFO:0010732 omega-6:omega-3 polyunsaturated fatty acid ratio 04-non-disease +EFO:0010733 polyunsaturated fatty acid measurement 04-non-disease +EFO:0010735 response to angiotensin receptor blocker 04-non-disease +EFO:0010736 cortical surface area measurement 04-non-disease +EFO:0010737 autoinflammation with episodic fever and lymphadenopathy 02-disease-root +EFO:0010738 retinal dystrophy with leukodystrophy 02-disease-root +EFO:0010739 epilepsy, early-onset, with or without developmental delay 02-disease-root +EFO:0010740 Diets-Jongmans syndrome 02-disease-root +EFO:0010742 protein binding measurement 04-non-disease +EFO:0010743 sperm measurement 04-non-disease +EFO:0010744 testis size 04-non-disease +EFO:0010745 semen measurement 04-non-disease +EFO:0010746 Inhibin B measurement 04-non-disease +EFO:0010747 response to levodopa 04-non-disease +EFO:0010748 response to zonisamide 04-non-disease +EFO:0010749 motor function measurement 04-non-disease +EFO:0010750 PHF-tau measurement 04-non-disease +EFO:0010757 response to diet 04-non-disease +EFO:0010758 anti-Kaposi's sarcoma-associated herpesvirus antibody measurement 04-non-disease +EFO:0010759 male reproductive system measurement 04-non-disease +EFO:0010760 4E-BP1 measurement 04-non-disease +EFO:0010761 adenosine deaminase measurement 04-non-disease +EFO:0010762 advanced glycosylation end product-specific receptor ligand measurement 04-non-disease +EFO:0010763 axin-1 measurement 04-non-disease +EFO:0010764 caspase-8 measurement 04-non-disease +EFO:0010766 CCL20 measurement 04-non-disease +EFO:0010768 CCL25 measurement 04-non-disease +EFO:0010769 CCL28 measurement 04-non-disease +EFO:0010770 CCL3 measurement 04-non-disease +EFO:0010772 CD244 measurement 04-non-disease +EFO:0010773 CD5 measurement 04-non-disease +EFO:0010774 CD6 measurement 04-non-disease +EFO:0010775 colony stimulating factor 1 measurement 04-non-disease +EFO:0010776 CUB domain containing protein 1 measurement 04-non-disease +EFO:0010777 CXCL1 measurement 04-non-disease +EFO:0010778 CXCL10 measurement 04-non-disease +EFO:0010779 CXCL11 measurement 04-non-disease +EFO:0010780 CXCL9 measurement 04-non-disease +EFO:0010781 delta/notch like EGF Repeat Containing protein measurement 04-non-disease +EFO:0010782 fibroblast growth factor 19 measurement 04-non-disease +EFO:0010783 fibroblast growth factor 21 measurement 04-non-disease +EFO:0010784 fibroblast growth factor 5 measurement 04-non-disease +EFO:0010785 fms related receptor tyrosine kinase-3 ligand measurement 04-non-disease +EFO:0010786 interleukin-10 receptor B measurement 04-non-disease +EFO:0010787 interleukin-12 subunit B measurement 04-non-disease +EFO:0010788 leukemia inhibitory factor receptor measurement 04-non-disease +EFO:0010789 monocyte chemotactic protein-2 measurement 04-non-disease +EFO:0010790 monocyte chemotactic protein-4 measurement 04-non-disease +EFO:0010791 neurotrophin-3 measurement 04-non-disease +EFO:0010792 oncostatin-M measurement 04-non-disease +EFO:0010793 programmed death-ligand 1 measurement 04-non-disease +EFO:0010794 signaling lymphocytic activation molecule 1 measurement 04-non-disease +EFO:0010795 sirtuin-2 measurement 04-non-disease +EFO:0010796 STAM binding protein measurement 04-non-disease +EFO:0010797 sulfotrasferase 1A1 measurement 04-non-disease +EFO:0010798 transforming growth factor-alpha measurement 04-non-disease +EFO:0010799 transforming growth factor-beta measurement 04-non-disease +EFO:0010800 tumor necrosis factor ligand superfamily member 10 measurement 04-non-disease +EFO:0010801 tumor necrosis factor ligand superfamily member 12 measurement 04-non-disease +EFO:0010802 tumor necrosis factor receptor superfamily member 9 measurement 04-non-disease +EFO:0010803 urokinase-type plasminogen activator measurement 04-non-disease +EFO:0010804 vascular endothelial growth factor A measurement 04-non-disease +EFO:0010808 response to tafenoquine 04-non-disease +EFO:0010809 fat intake measurement 04-non-disease +EFO:0010810 protein intake measurement 04-non-disease +EFO:0010811 carbohydrate intake measurement 04-non-disease +EFO:0010812 T-cell immunoglobulin and mucin domain 1 measurement 04-non-disease +EFO:0010813 fasting C-peptide measurement 04-non-disease +EFO:0010814 proinsulin measurement 04-non-disease +EFO:0010815 remnant cholesterol measurement 04-non-disease +EFO:0010816 dietary fat liking measurement 04-non-disease +EFO:0010817 self-injurious ideation 04-non-disease +EFO:0010818 sensory perception of dietary content 04-non-disease +EFO:0010819 clonal hematopoiesis 02-disease-root +EFO:0010820 spontaneous coronary artery dissection 01-disease-subtype +EFO:0010821 liver fat measurement 04-non-disease +EFO:0010822 stenosing tenosynovitis 01-disease-subtype +EFO:0010824 response to rhododendrol 04-non-disease +EFO:0010825 response to fluoropyrimidines 04-non-disease +EFO:0010826 cystine urolithiasis 02-disease-root +EFO:0010828 myofibrillar myopathy 9 with early respiratory failure 01-disease-subtype +EFO:0010830 lobular capilliary hemangioma 01-disease-subtype +EFO:0010831 testicular mixed germ cell tumor 02-disease-root +EFO:0010832 primary central chondrosarcoma 01-disease-subtype +EFO:0010833 uterine corpus undifferentiated sarcoma 01-disease-subtype +EFO:0010834 tumor necrosis factor measurement 04-non-disease +EFO:0010899 anti-merkel cell virus antibody measurement 04-non-disease +EFO:0010900 anti-polyomavirus 2 antibody measurement 04-non-disease +EFO:0010903 anti-chlamydia trachomatis antibody measurement 04-non-disease +EFO:0010904 anti-BK polyomavirus antibody measurement 04-non-disease +EFO:0010905 BK polyomavirus seropositivity 04-non-disease +EFO:0010906 merkel cell virus seropositivity 04-non-disease +EFO:0010907 polyomavirus 2 seropositivity 04-non-disease +EFO:0010908 Epstein-Barr virus seropositivity 04-non-disease +EFO:0010909 adrenomedullin measurement 04-non-disease +EFO:0010910 C-C motif chemokine 20 measurement 04-non-disease +EFO:0010911 C-X-C motif chemokine 16 measurement 04-non-disease +EFO:0010912 endothelial cell-specific molecule 1 measurement 04-non-disease +EFO:0010913 eosinophil cationic protein measurement 04-non-disease +EFO:0010914 fatty acid-binding protein, adipocyte measurement 04-non-disease +EFO:0010915 heat shock 27 kDa protein measurement 04-non-disease +EFO:0010916 interleukin-27 measurement 04-non-disease +EFO:0010917 kidney injury molecule 1 measurement 04-non-disease +EFO:0010918 lectin-like oxidized LDL receptor 1 measurement 04-non-disease +EFO:0010919 melusin measurement 04-non-disease +EFO:0010920 membrane-bound aminopeptidase P measurement 04-non-disease +EFO:0010921 N-terminal prohormone brain natriuretic peptide measurement 04-non-disease +EFO:0010922 P-selectin glycoprotein ligand 1 measurement 04-non-disease +EFO:0010923 pentraxin-related protein PTX3 measurement 04-non-disease +EFO:0010924 proheparin-binding EGF-like growth factor measurement 04-non-disease +EFO:0010925 protein S100-A12 measurement 04-non-disease +EFO:0010926 proteinase-activated receptor 1 measurement 04-non-disease +EFO:0010927 proto-oncogene tyrosine-protein kinase Src measurement 04-non-disease +EFO:0010928 SIR2-like protein 2 measurement 04-non-disease +EFO:0010929 TNF-related activation-induced cytokine measurement 04-non-disease +EFO:0010930 TNF-related apoptosis-inducing ligand receptor 2 measurement 04-non-disease +EFO:0010931 tumor necrosis factor receptor 1 measurement 04-non-disease +EFO:0010932 urokinase plasminogen activator surface receptor measurement 04-non-disease +EFO:0010933 response to dexamethasone 04-non-disease +EFO:0010934 aspartate aminotransferase to alanine aminotransferase ratio 04-non-disease +EFO:0010940 microglial activation measurement 04-non-disease +EFO:0010947 epidermal growth factor measurement 04-non-disease +EFO:0010948 lower face morphology measurement 04-non-disease +EFO:0010949 upper face morphology measurement 04-non-disease +EFO:0010950 response to cranial radiation therapy 04-non-disease +EFO:0010952 urinary potassium measurement 04-non-disease +EFO:0010953 autosomal recessive dilated cardiomyopathy 01-disease-subtype +EFO:0010954 cask-related c-linked intellectual disability 02-disease-root +EFO:0010955 muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12 01-disease-subtype +EFO:0010956 peroxisome biogenesis disorder, complementation group 7 01-disease-subtype +EFO:0010966 pneumonia severity measurement 04-non-disease +EFO:0010967 urinary microalbumin measurement 04-non-disease +EFO:0010968 phosphate measurement 04-non-disease +EFO:0010969 response to growth hormone 04-non-disease +EFO:0010970 severe malarial anemia 01-disease-subtype +EFO:0010971 response to metamizole 04-non-disease +EFO:0010972 blood phosphate measurement 04-non-disease +EFO:0010977 macrovascular complications of diabetes 02-disease-root +EFO:0010978 chemotherapy-induced cytotoxicity measurement 04-non-disease +EFO:0010979 2-hydroxyisobutyrate measurement 04-non-disease +EFO:0010980 3-aminoisobutyrate measurement 04-non-disease +EFO:0010982 3-hydroxybutyrate measurement 04-non-disease +EFO:0010983 3-hydroxyisobutyrate measurement 04-non-disease +EFO:0010984 3-hydroxyisovalerate measurement 04-non-disease +EFO:0010985 3-Indoxylsulfate measurement 04-non-disease +EFO:0010986 4-deoxyerythronic acid measurement 04-non-disease +EFO:0010987 4-deoxythreonic acid measurement 04-non-disease +EFO:0010988 5-oxoproline measurement 04-non-disease +EFO:0010989 acetone measurement 04-non-disease +EFO:0010990 dimethylamine measurement 04-non-disease +EFO:0010991 formate measurement 04-non-disease +EFO:0010992 hippurate measurement 04-non-disease +EFO:0010993 n-acetyl neuraminic acid measurement 04-non-disease +EFO:0010994 n-methyl-2-pyridone-5-carboxamide measurement 04-non-disease +EFO:0010995 n-methylnicotinic acid measurement 04-non-disease +EFO:0010996 n-methylpicolinic acid measurement 04-non-disease +EFO:0010997 n1-methyl-nicotinamide measurement 04-non-disease +EFO:0010998 p-cresol sulfate measurement 04-non-disease +EFO:0010999 p-hydroxyphenylacetate measurement 04-non-disease +EFO:0011000 proline betaine measurement 04-non-disease +EFO:0011001 scyllo-inositol measurement 04-non-disease +EFO:0011002 succinate measurement 04-non-disease +EFO:0011003 trimethylamine measurement 04-non-disease +EFO:0011004 trimethylamine oxide measurement 04-non-disease +EFO:0011005 urea measurement 04-non-disease +EFO:0011007 estrogen measurement 04-non-disease +EFO:0011008 sex hormone measurement 04-non-disease +EFO:0011009 glycochenodeoxycholate 3-O-glucuronide measurement 04-non-disease +EFO:0011010 glycodeoxycholate 3-O-glucuronide measurement 04-non-disease +EFO:0011011 sitting height measurement 04-non-disease +EFO:0011012 blood bicarbonate measurement 04-non-disease +EFO:0011013 vaginal microbiome measurement 04-non-disease +EFO:0011014 health-related quality of life measurement 04-non-disease +EFO:0011015 educational attainment 04-non-disease +EFO:0011018 brain-derived neurotrophic factor measurement 04-non-disease +EFO:0011021 BRCA1 mutation carier status 04-non-disease +EFO:0011022 BRCA2 mutation carier statu 04-non-disease +EFO:0011023 concussion 01-disease-subtype +EFO:0011024 response to liver transplant 04-non-disease +EFO:0011031 intestinal permeability measurement 04-non-disease +EFO:0011032 fractional excretion of lactulose to mannitol ratio 04-non-disease +EFO:0011033 ST segment duration 04-non-disease +EFO:0011034 T wave duration 04-non-disease +EFO:0011035 TP segment duration 04-non-disease +EFO:0011036 matrix metalloproteinase–degraded type I collagen measurement 04-non-disease +EFO:0011037 anti-human herpes virus 6 antibody measurement 04-non-disease +EFO:0011038 anti-human herpes virus 7 antibody measurement 04-non-disease +EFO:0011039 myeloperoxidase (MPO)-DNA complex measurement 04-non-disease +EFO:0011041 response to BCG intravesical immunotherapy 04-non-disease +EFO:0011043 neck circumference 04-non-disease +EFO:0011044 BMI-adjusted neck circumference 04-non-disease +EFO:0011045 fetal weight 04-non-disease +EFO:0011046 carcinogenicity 01-disease-subtype +EFO:0011047 central nervous system toxicity 01-disease-subtype +EFO:0011048 dermatological toxicity 01-disease-subtype +EFO:0011049 drug misuse 01-disease-subtype +EFO:0011050 gastrointestinal toxicity 01-disease-subtype +EFO:0011051 hematological toxicity 01-disease-subtype +EFO:0011052 hepatotoxicity 01-disease-subtype +EFO:0011053 immune system toxicity 03-disease-area +EFO:0011054 metabolic toxicity 01-disease-subtype +EFO:0011055 musculoskeletal toxicity 01-disease-subtype +EFO:0011056 nephrotoxicity 01-disease-subtype +EFO:0011057 neurotoxicity 01-disease-subtype +EFO:0011058 peripheral neurotoxicity 01-disease-subtype +EFO:0011059 psychiatric toxicity 01-disease-subtype +EFO:0011060 respiratory toxicity 01-disease-subtype +EFO:0011061 toxicity 04-non-disease +EFO:0011062 vascular toxicity 01-disease-subtype +EFO:0011063 recessive lissencephaly 01-disease-subtype +EFO:0011064 recessive spherocytosis 01-disease-subtype +EFO:0020000 developmental and epileptic encephalopathy 94 01-disease-subtype +EFO:0020001 drug resistance 04-non-disease +EFO:0020002 lack of efficacy 04-non-disease +EFO:0020003 drug toxicity 04-non-disease +EFO:0020005 pheochromocytoma-paraganglioma 02-disease-root +EFO:0020006 enterocele 01-disease-subtype +EFO:0020007 X-21467 measurement 04-non-disease +EFO:0020008 campesterol measurement 04-non-disease +EFO:0020009 ethylmalonate measurement 04-non-disease +EFO:0020010 butyrylcarnitine measurement 04-non-disease +EFO:0020011 X-16964 measurement 04-non-disease +EFO:0020012 indolelactate measurement 04-non-disease +EFO:0020013 5-methyluridine (ribothymidine) measurement 04-non-disease +EFO:0020014 1-(1-enyl-stearoyl)-2-linoleoyl-GPE (P-18:0/18:2)* measurement 04-non-disease +EFO:0020015 X-11593 measurement 04-non-disease +EFO:0020016 X-21444 measurement 04-non-disease +EFO:0020017 2-aminobutyrate measurement 04-non-disease +EFO:0020018 glycerophosphorylcholine measurement 04-non-disease +EFO:0020019 isovalerylcarnitine measurement 04-non-disease +EFO:0020020 succinylcarnitine measurement 04-non-disease +EFO:0020021 N-acetyltyrosine measurement 04-non-disease +EFO:0020022 N-acetylneuraminate measurement 04-non-disease +EFO:0020023 N-acetyltaurine measurement 04-non-disease +EFO:0020024 X-15728 measurement 04-non-disease +EFO:0020025 central hypoventilation syndrome, late-onset 02-disease-root +EFO:0020026 autosomal recessive retinitis pigmentosa 01-disease-subtype +EFO:0020027 susceptibility to partial acquired lipodystrophy 02-disease-root +EFO:0020028 autosomal dominant retinitis pigmentosa 01-disease-subtype +EFO:0020029 autosomal recessive cone rod dystrophy 01-disease-subtype +EFO:0020030 tubulinopathy 02-disease-root +EFO:0020031 mononeuropathy of the median nerve 02-disease-root +EFO:0020032 autosomal recessive transient neonatal diabetes mellitus 01-disease-subtype +EFO:0020033 autosomal recessive congenital stationary night blindness 01-disease-subtype +EFO:0020034 familial Behcet-like autoinflammatory syndrome 02-disease-root +EFO:0020035 autosomal dominant common variable immunodeficiency 01-disease-subtype +EFO:0020036 autosomal recessive nemaline myopathy 01-disease-subtype +EFO:0020037 autosominal recessive combined pituitary hormone deficiency 01-disease-subtype +EFO:0020038 megacystis-microcolon-intestinal hypoperistalsis syndrome 5 01-disease-subtype +EFO:0020039 neuronal ceroid-lipofuscinosis, dominant/recessive 01-disease-subtype +EFO:0020040 transient neonatal diabetes, dominant/recessive 01-disease-subtype +EFO:0020041 congenital myasthenic syndrome, dominant/recessive 01-disease-subtype +EFO:0020042 jasmonic acid measurement 04-non-disease +EFO:0020043 octadecanoids measurement 04-non-disease +EFO:0020044 ecosanoids measurement 04-non-disease +EFO:0020045 prostaglandins measurement 04-non-disease +EFO:0020046 phosphatidylcholine 18:1 measurement 04-non-disease +EFO:0020047 phosphatidate measurement 04-non-disease +EFO:0020048 lysophosphatidylserine measurement 04-non-disease +EFO:0020049 phosphatidylserines measurement 04-non-disease +EFO:0020050 bile acid measurement 04-non-disease +EFO:0020051 diacylglycerol 30:1 measurement 04-non-disease +EFO:0020052 diacylglycerol 30:0 measurement 04-non-disease +EFO:0020053 diacylglycerol 28:0 measurement 04-non-disease +EFO:0020054 diacylglycerol 32:0 measurement 04-non-disease +EFO:0020055 diacylglycerol 32.2 measurement 04-non-disease +EFO:0020056 diacylglycerol 33:1 measurement 04-non-disease +EFO:0020057 diacylglycerol 33:3 measurement 04-non-disease +EFO:0020058 diacylglycerol 34:0 measurement 04-non-disease +EFO:0020059 diacylglycerol 34:3 measurement 04-non-disease +EFO:0020060 diacylglycerol 36:1 measurement 04-non-disease +EFO:0020061 diacylglycerol 36:2 measurement 04-non-disease +EFO:0020062 diacylglycerol 36:3 measurement 04-non-disease +EFO:0020063 diacylglycerol 36:4 measurement 04-non-disease +EFO:0020064 diacylglycerol 36:5 measurement 04-non-disease +EFO:0020065 diacylglycerol 38:3 measurement 04-non-disease +EFO:0020066 diacylglycerol 38:4 measurement 04-non-disease +EFO:0020067 diacylglycerol 38:5 measurement 04-non-disease +EFO:0020068 diacylglycerol 42:7 measurement 04-non-disease +EFO:0020069 diacylglycerol 44:7 measurement 04-non-disease +EFO:0020070 diacylglycerol 44:6 measurement 04-non-disease +EFO:0020101 parenchymal hematoma 01-disease-subtype +EFO:0020102 circulating alpha-Klotho measurement 04-non-disease +EFO:0020103 childhood gender nonconformity 01-disease-subtype +EFO:0020104 pelvis bone mineral density 04-non-disease +EFO:0020105 trunk bone mineral density 04-non-disease +EFO:0020106 cytomegalovirus virus reactivation 01-disease-subtype +EFO:0020108 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1 measurement 04-non-disease +EFO:0020109 14-3-3 protein family measurement 04-non-disease +EFO:0020110 14-3-3 protein sigma measurement 04-non-disease +EFO:0020111 15-hydroxyprostaglandin dehydrogenase [NAD(+)] measurement 04-non-disease +EFO:0020112 26s proteasome non-atpase regulatory subunit 7 measurement 04-non-disease +EFO:0020113 3-hydroxy-3-methylglutaryl-coenzymeAreductase measurement 04-non-disease +EFO:0020114 3-hydroxyacyl-coa dehydrogenase type-2 measurement 04-non-disease +EFO:0020115 3-hydroxyisobutyrate dehydrogenase, mitochondrial measurement 04-non-disease +EFO:0020116 3-phosphoinositide-dependent protein kinase 1 measurement 04-non-disease +EFO:0020117 40s ribosomal protein S3 measurement 04-non-disease +EFO:0020118 40s ribosomal protein S7 measurement 04-non-disease +EFO:0020119 40s ribosomal protein SA measurement 04-non-disease +EFO:0020120 6-phosphogluconate dehydrogenase, decarboxylating measurement 04-non-disease +EFO:0020121 60 kda heat shock protein, mitochondrial measurement 04-non-disease +EFO:0020122 72 kda type IV collagenase measurement 04-non-disease +EFO:0020123 a disintegrin and metalloproteinase with thrombospondin motifs 15 measurement 04-non-disease +EFO:0020124 a disintegrin and metalloproteinase with thrombospondin motifs 4 measurement 04-non-disease +EFO:0020125 acidic leucine-rich nuclear phosphoprotein 32 family member b measurement 04-non-disease +EFO:0020126 activated protein C measurement 04-non-disease +EFO:0020127 activin receptor type-1B measurement 04-non-disease +EFO:0020128 adapter molecule CRK measurement 04-non-disease +EFO:0020129 adenylate kinase isoenzyme 1 measurement 04-non-disease +EFO:0020130 adenylosuccinate lyase measurement 04-non-disease +EFO:0020131 advanced glycosylation end product-specific receptor, soluble measurement 04-non-disease +EFO:0020132 aflatoxin B1 aldehyde reductase member 2 measurement 04-non-disease +EFO:0020133 aggrecan core protein measurement 04-non-disease +EFO:0020134 AH receptor-interacting protein measurement 04-non-disease +EFO:0020135 allograft inflammatory factor 1 measurement 04-non-disease +EFO:0020136 alpha-(1,3)-fucosyltransferase 5 measurement 04-non-disease +EFO:0020137 alpha-2-antiplasmin measurement 04-non-disease +EFO:0020138 alpha-2-macroglobulin measurement 04-non-disease +EFO:0020139 alpha-L-iduronidase measurement 04-non-disease +EFO:0020140 alpha-soluble NSF attachment protein measurement 04-non-disease +EFO:0020141 aminoacylase-1 measurement 04-non-disease +EFO:0020142 amp kinase (alpha1beta1gamma1) measurement 04-non-disease +EFO:0020143 amp kinase (alpha2beta2gamma1) measurement 04-non-disease +EFO:0020144 amphiregulin measurement 04-non-disease +EFO:0020145 amyloid beta A4 protein measurement 04-non-disease +EFO:0020146 angiopoietin-1 measurement 04-non-disease +EFO:0020147 angiopoietin-4 measurement 04-non-disease +EFO:0020148 angiopoietin-related protein 3 measurement 04-non-disease +EFO:0020149 angiopoietin-related protein 4 measurement 04-non-disease +EFO:0020150 angiotensin-converting enzyme 2 measurement 04-non-disease +EFO:0020151 annexin A6 measurement 04-non-disease +EFO:0020152 anterior gradient protein 2 homolog measurement 04-non-disease +EFO:0020153 anti-muellerian hormone type-2 receptor measurement 04-non-disease +EFO:0020154 antileukoproteinase measurement 04-non-disease +EFO:0020155 antithrombin-III measurement 04-non-disease +EFO:0020156 apolipoprotein D measurement 04-non-disease +EFO:0020157 apolipoprotein E (isoform E3) measurement 04-non-disease +EFO:0020158 apolipoprotein E (isoform E4) measurement 04-non-disease +EFO:0020159 apoptosis regulator BCL-2 measurement 04-non-disease +EFO:0020160 arginase-1 measurement 04-non-disease +EFO:0020161 aromatic-l-amino-acid decarboxylase measurement 04-non-disease +EFO:0020162 artemin measurement 04-non-disease +EFO:0020163 arylsulfatase A measurement 04-non-disease +EFO:0020164 asialoglycoprotein receptor 1 measurement 04-non-disease +EFO:0020165 AT-rich interactive domain-containing protein 3A measurement 04-non-disease +EFO:0020166 ATP synthase subunit beta, mitochondrial measurement 04-non-disease +EFO:0020167 ATP-dependent rna helicase ddx19b measurement 04-non-disease +EFO:0020168 aurora kinase A measurement 04-non-disease +EFO:0020169 aurora kinase B measurement 04-non-disease +EFO:0020170 azurocidin measurement 04-non-disease +EFO:0020171 B-cell receptor CD22 measurement 04-non-disease +EFO:0020172 bactericidal permeability-increasing protein measurement 04-non-disease +EFO:0020173 baculoviral IAP repeat-containing protein 3 measurement 04-non-disease +EFO:0020174 baculoviral IAP repeat-containing protein 5 measurement 04-non-disease +EFO:0020175 baculoviral IAP repeat-containing protein 7 isoform beta measurement 04-non-disease +EFO:0020176 basigin measurement 04-non-disease +EFO:0020177 BCL-2-like protein 1 measurement 04-non-disease +EFO:0020178 BCL-2-related protein A1 measurement 04-non-disease +EFO:0020179 bdnf/nt-3 growth factors receptor measurement 04-non-disease +EFO:0020180 beta-2-microglobulin measurement 04-non-disease +EFO:0020181 beta-adrenergic receptor kinase 1 measurement 04-non-disease +EFO:0020182 biglycan measurement 04-non-disease +EFO:0020183 BMP-binding endothelial regulator protein measurement 04-non-disease +EFO:0020184 bone morphogenetic protein 1 measurement 04-non-disease +EFO:0020185 bone morphogenetic protein 10 measurement 04-non-disease +EFO:0020186 bone morphogenetic protein 6 measurement 04-non-disease +EFO:0020187 bone morphogenetic protein 7 measurement 04-non-disease +EFO:0020188 bone morphogenetic protein receptor type-1a measurement 04-non-disease +EFO:0020189 bone morphogenetic protein receptor type-2 measurement 04-non-disease +EFO:0020190 bone sialoprotein 2 measurement 04-non-disease +EFO:0020191 brain natriuretic peptide 32 measurement 04-non-disease +EFO:0020192 brain-specific serine protease 4 measurement 04-non-disease +EFO:0020193 brevican core protein measurement 04-non-disease +EFO:0020194 brother of CDO measurement 04-non-disease +EFO:0020195 C-C motif chemokine 13 measurement 04-non-disease +EFO:0020196 C-C motif chemokine 22 measurement 04-non-disease +EFO:0020197 C-C motif chemokine 24 measurement 04-non-disease +EFO:0020198 C-C motif chemokine 27 measurement 04-non-disease +EFO:0020199 C-C motif chemokine 28 measurement 04-non-disease +EFO:0020200 C-type lectin domain family 1 member B measurement 04-non-disease +EFO:0020201 C-type lectin domain family 4 member K measurement 04-non-disease +EFO:0020202 C-type lectin domain family 4 member M measurement 04-non-disease +EFO:0020203 C-type lectin domain family 7 memberAmeasurement 04-non-disease +EFO:0020204 C-type mannose receptor 2 measurement 04-non-disease +EFO:0020205 C-X-C motif chemokine 13 measurement 04-non-disease +EFO:0020206 C3a anaphylatoxin des arginine measurement 04-non-disease +EFO:0020207 C3a anaphylatoxin measurement 04-non-disease +EFO:0020208 C5a anaphylatoxin measurement 04-non-disease +EFO:0020209 cadherin-1 measurement 04-non-disease +EFO:0020210 cadherin-12 measurement 04-non-disease +EFO:0020211 cadherin-15 measurement 04-non-disease +EFO:0020212 cadherin-2 measurement 04-non-disease +EFO:0020213 cadherin-3 measurement 04-non-disease +EFO:0020214 cadherin-6 measurement 04-non-disease +EFO:0020215 calcineurin subunit B type 1 measurement 04-non-disease +EFO:0020216 calcium-dependent phospholipase A2 measurement 04-non-disease +EFO:0020217 calcium/calmodulin-dependent protein kinase kinase 1 measurement 04-non-disease +EFO:0020218 calcium/calmodulin-dependent protein kinase type II subunit alpha measurement 04-non-disease +EFO:0020219 calcium/calmodulin-dependent protein kinase type II subunit beta measurement 04-non-disease +EFO:0020220 calcium/calmodulin-dependent protein kinase type II subunit delta measurement 04-non-disease +EFO:0020221 calreticulin measurement 04-non-disease +EFO:0020222 cAMP-dependent protein kinase catalytic subunit alpha measurement 04-non-disease +EFO:0020223 cAMP-regulated phosphoprotein 19 measurement 04-non-disease +EFO:0020224 cAMP-specific 3',5'-cyclic phosphodiesterase 4D measurement 04-non-disease +EFO:0020225 carbohydrate sulfotransferase 2 measurement 04-non-disease +EFO:0020226 carbohydrate sulfotransferase 6 measurement 04-non-disease +EFO:0020227 carbonic anhydrase 1 measurement 04-non-disease +EFO:0020228 carbonic anhydrase 2 measurement 04-non-disease +EFO:0020229 carbonic anhydrase 3 measurement 04-non-disease +EFO:0020230 carbonic anhydrase 4 measurement 04-non-disease +EFO:0020231 carbonic anhydrase 7 measurement 04-non-disease +EFO:0020232 carbonic anhydrase 9 measurement 04-non-disease +EFO:0020233 carbonic anhydrase-related protein 10 measurement 04-non-disease +EFO:0020234 carboxypeptidase e measurement 04-non-disease +EFO:0020235 cardiotrophin-1 measurement 04-non-disease +EFO:0020236 casein kinase II 2-alpha:2-beta heterotetramer measurement 04-non-disease +EFO:0020237 casein kinase II 2-alpha':2-beta heterotetramer measurement 04-non-disease +EFO:0020238 casein kinase II subunit alpha measurement 04-non-disease +EFO:0020239 caspase-10 measurement 04-non-disease +EFO:0020240 caspase-2 measurement 04-non-disease +EFO:0020241 cathepsin E measurement 04-non-disease +EFO:0020242 cathepsin G measurement 04-non-disease +EFO:0020243 cathepsin H measurement 04-non-disease +EFO:0020244 cathepsin L2 measurement 04-non-disease +EFO:0020245 CD166 antigen measurement 04-non-disease +EFO:0020246 CD226 antigen measurement 04-non-disease +EFO:0020247 CD48 antigen measurement 04-non-disease +EFO:0020248 CD5 antigen-like measurement 04-non-disease +EFO:0020249 CD70 antigen measurement 04-non-disease +EFO:0020250 CD97 antigen measurement 04-non-disease +EFO:0020251 cell adhesion molecule 1 measurement 04-non-disease +EFO:0020252 cell adhesion molecule 3 measurement 04-non-disease +EFO:0020253 cell surface glycoprotein CD200 receptor 1 measurement 04-non-disease +EFO:0020254 cerebral dopamine neurotrophic factor measurement 04-non-disease +EFO:0020255 cGMP-inhibited 3',5'-cyclic phosphodiesterase A measurement 04-non-disease +EFO:0020256 chloride intracellular channel protein 1 measurement 04-non-disease +EFO:0020257 chordin-like protein 1 measurement 04-non-disease +EFO:0020258 chromobox protein homolog 5 measurement 04-non-disease +EFO:0020259 chymase measurement 04-non-disease +EFO:0020260 ciliary neurotrophic factor measurement 04-non-disease +EFO:0020261 ciliary neurotrophic factor receptor subunit alpha measurement 04-non-disease +EFO:0020262 coactosin-like protein measurement 04-non-disease +EFO:0020263 coagulation factor IX measurement 04-non-disease +EFO:0020264 coagulation factor IXAB measurement 04-non-disease +EFO:0020265 coagulation factor X measurement 04-non-disease +EFO:0020266 coagulation factor XA measurement 04-non-disease +EFO:0020267 cofilin-1 measurement 04-non-disease +EFO:0020268 coiled-coil domain-containing protein 80 measurement 04-non-disease +EFO:0020269 collagen alpha-1(VIII) chain measurement 04-non-disease +EFO:0020270 collagen alpha-1(XXIII) chain measurement 04-non-disease +EFO:0020271 collagenase 3 measurement 04-non-disease +EFO:0020272 collectin-12 measurement 04-non-disease +EFO:0020273 COMM domain-containing protein 7 measurement 04-non-disease +EFO:0020274 complement C2 measurement 04-non-disease +EFO:0020275 complement C3B measurement 04-non-disease +EFO:0020276 complement C3B, inactivated measurement 04-non-disease +EFO:0020277 complement C3D fragment measurement 04-non-disease +EFO:0020278 complement C5 measurement 04-non-disease +EFO:0020279 complement C5B-C6 complex measurement 04-non-disease +EFO:0020280 complement component 1 q subcomponent-binding protein, mitochondrial measurement 04-non-disease +EFO:0020281 complement component C6 measurement 04-non-disease +EFO:0020282 complement component C9 measurement 04-non-disease +EFO:0020283 complement factor D measurement 04-non-disease +EFO:0020284 connective tissue growth factor measurement 04-non-disease +EFO:0020285 connective tissue-activating peptide III measurement 04-non-disease +EFO:0020286 contactin-1 measurement 04-non-disease +EFO:0020287 contactin-4 measurement 04-non-disease +EFO:0020288 corticosteroid-binding globulin measurement 04-non-disease +EFO:0020289 corticotropin measurement 04-non-disease +EFO:0020290 creatine kinase b-type measurement 04-non-disease +EFO:0020291 creatine kinase m-type measurement 04-non-disease +EFO:0020292 creatine kinase m-type:creatine kinase b-type heterodimer measurement 04-non-disease +EFO:0020293 cryptic protein measurement 04-non-disease +EFO:0020294 cyclin-dependent kinase 1:g2/mitotic-specific cyclin-B1 complex measurement 04-non-disease +EFO:0020295 cyclin-dependent kinase 2:cyclin-A2 complex measurement 04-non-disease +EFO:0020296 cyclin-dependent kinase 5:cyclin-dependent kinase 5 activator 1 complex measurement 04-non-disease +EFO:0020297 cyclin-dependent kinase 8:cyclin-c complex measurement 04-non-disease +EFO:0020298 cyclin-dependent kinase inhibitor 1b measurement 04-non-disease +EFO:0020299 cystatin-M measurement 04-non-disease +EFO:0020300 cystatin-S measurement 04-non-disease +EFO:0020301 cysteine-rich secretory protein 3 measurement 04-non-disease +EFO:0020302 cytochrome C measurement 04-non-disease +EFO:0020303 cytochrome p450 3a4 measurement 04-non-disease +EFO:0020304 cytokine receptor common subunit gamma measurement 04-non-disease +EFO:0020305 cytokine receptor-like factor 1:cardiotrophin-like cytokine factor 1 complex measurement 04-non-disease +EFO:0020306 cytokine receptor-like factor 2 measurement 04-non-disease +EFO:0020307 cytoplasmic protein NCK1 measurement 04-non-disease +EFO:0020308 cytoplasmic tyrosine-protein kinase BMX measurement 04-non-disease +EFO:0020309 cytoskeleton-associated protein 2 measurement 04-non-disease +EFO:0020310 cytosolic non-specific dipeptidase measurement 04-non-disease +EFO:0020311 cytotoxic and regulatory t-cell molecule measurement 04-non-disease +EFO:0020312 cytotoxic t-lymphocyte protein 4 measurement 04-non-disease +EFO:0020313 d-dimer measurement 04-non-disease +EFO:0020314 DCTP pyrophosphatase 1 measurement 04-non-disease +EFO:0020315 decorin measurement 04-non-disease +EFO:0020316 delta-like protein 1 measurement 04-non-disease +EFO:0020317 delta-like protein 4 measurement 04-non-disease +EFO:0020318 dentin matrix acidic phosphoprotein 1 measurement 04-non-disease +EFO:0020319 desert hedgehog protein n-product measurement 04-non-disease +EFO:0020320 desmocollin-3 measurement 04-non-disease +EFO:0020321 desmoglein-1 measurement 04-non-disease +EFO:0020322 desmoglein-2 measurement 04-non-disease +EFO:0020323 diablo homolog, mitochondrial measurement 04-non-disease +EFO:0020324 dickkopf-like protein 1 measurement 04-non-disease +EFO:0020325 dipeptidyl peptidase 1 measurement 04-non-disease +EFO:0020326 dipeptidyl peptidase 2 measurement 04-non-disease +EFO:0020327 discoidin domain-containing receptor 2 measurement 04-non-disease +EFO:0020328 disintegrin and metalloproteinase domain-containing protein 12 measurement 04-non-disease +EFO:0020329 disintegrin and metalloproteinase domain-containing protein 9 measurement 04-non-disease +EFO:0020330 DNA repair protein rad51 homolog 1 measurement 04-non-disease +EFO:0020331 DNA topoisomerase 1 measurement 04-non-disease +EFO:0020332 DNAj homolog subfamily b member 1 measurement 04-non-disease +EFO:0020333 drebrin-like protein measurement 04-non-disease +EFO:0020334 dual 3',5'-cyclic-amp and -gmp phosphodiesterase 11a measurement 04-non-disease +EFO:0020335 dual specificity mitogen-activated protein kinase kinase 1 measurement 04-non-disease +EFO:0020336 dual specificity protein phosphatase 3 measurement 04-non-disease +EFO:0020337 dual specificity tyrosine-phosphorylation-regulated kinase 3 measurement 04-non-disease +EFO:0020338 dynactin subunit 2 measurement 04-non-disease +EFO:0020339 dynein light chain 1, cytoplasmic measurement 04-non-disease +EFO:0020340 e3 ubiquitin-protein ligase mdm2 measurement 04-non-disease +EFO:0020341 ectodysplasin-a, secreted form measurement 04-non-disease +EFO:0020342 ectonucleoside triphosphate diphosphohydrolase 1 measurement 04-non-disease +EFO:0020343 ectonucleoside triphosphate diphosphohydrolase 3 measurement 04-non-disease +EFO:0020344 ectonucleotide pyrophosphatase/phosphodiesterase family member 7 measurement 04-non-disease +EFO:0020345 elongation factor 1-beta measurement 04-non-disease +EFO:0020346 endoplasmic reticulum resident protein 29 measurement 04-non-disease +EFO:0020347 endostatin measurement 04-non-disease +EFO:0020348 endothelial monocyte-activating polypeptide 2 measurement 04-non-disease +EFO:0020349 enteropeptidase measurement 04-non-disease +EFO:0020350 ephrin type-a receptor 10 measurement 04-non-disease +EFO:0020351 ephrin type-a receptor 2 measurement 04-non-disease +EFO:0020352 ephrin type-a receptor 3 measurement 04-non-disease +EFO:0020353 ephrin type-a receptor 5 measurement 04-non-disease +EFO:0020354 ephrin type-b receptor 4 measurement 04-non-disease +EFO:0020355 ephrin type-b receptor 6 measurement 04-non-disease +EFO:0020356 ephrin-A4 measurement 04-non-disease +EFO:0020357 ephrin-A5 measurement 04-non-disease +EFO:0020358 ephrin-B3 measurement 04-non-disease +EFO:0020359 epidermal growth factor receptor measurement 04-non-disease +EFO:0020360 epidermal growth factor receptor substrate 15-like 1 measurement 04-non-disease +EFO:0020361 epiregulin measurement 04-non-disease +EFO:0020362 epithelial discoidin domain-containing receptor 1 measurement 04-non-disease +EFO:0020363 erythropoietin measurement 04-non-disease +EFO:0020364 erythropoietin receptor measurement 04-non-disease +EFO:0020365 estradiol 17-beta-dehydrogenase 1 measurement 04-non-disease +EFO:0020366 eukaryotic initiation factor 4a-III measurement 04-non-disease +EFO:0020367 eukaryotic translation initiation factor 4 gamma 2 measurement 04-non-disease +EFO:0020368 eukaryotic translation initiation factor 4E-binding protein 2 measurement 04-non-disease +EFO:0020369 eukaryotic translation initiation factor 5 measurement 04-non-disease +EFO:0020370 eukaryotic translation initiation factor 5A-1 measurement 04-non-disease +EFO:0020371 fact complex subunit ssrp1 measurement 04-non-disease +EFO:0020372 fatty acid-binding protein, epidermal measurement 04-non-disease +EFO:0020373 fatty acid-binding protein, heart measurement 04-non-disease +EFO:0020374 fibrinogen gamma chain measurement 04-non-disease +EFO:0020375 fibroblast growth factor 1 measurement 04-non-disease +EFO:0020376 fibroblast growth factor 10 measurement 04-non-disease +EFO:0020377 fibroblast growth factor 12 measurement 04-non-disease +EFO:0020378 fibroblast growth factor 16 measurement 04-non-disease +EFO:0020379 fibroblast growth factor 17 measurement 04-non-disease +EFO:0020380 fibroblast growth factor 18 measurement 04-non-disease +EFO:0020381 fibroblast growth factor 20 measurement 04-non-disease +EFO:0020382 fibroblast growth factor 4 measurement 04-non-disease +EFO:0020383 fibroblast growth factor 6 measurement 04-non-disease +EFO:0020384 fibroblast growth factor 7 measurement 04-non-disease +EFO:0020385 fibroblast growth factor 8 isoformAmeasurement 04-non-disease +EFO:0020386 fibroblast growth factor 8 isoform b measurement 04-non-disease +EFO:0020387 fibroblast growth factor 9 measurement 04-non-disease +EFO:0020388 fibroblast growth factor receptor 1 measurement 04-non-disease +EFO:0020389 fibroblast growth factor receptor 2 measurement 04-non-disease +EFO:0020390 fibroblast growth factor receptor 3 measurement 04-non-disease +EFO:0020391 fibroblast growth factor receptor 4 measurement 04-non-disease +EFO:0020392 ficolin-3 measurement 04-non-disease +EFO:0020393 focal adhesion kinase 1 measurement 04-non-disease +EFO:0020394 follistatin-related protein 3 measurement 04-non-disease +EFO:0020395 fractalkine measurement 04-non-disease +EFO:0020396 g2/mitotic-specific cyclin-B1 measurement 04-non-disease +EFO:0020397 galectin-2 measurement 04-non-disease +EFO:0020398 galectin-4 measurement 04-non-disease +EFO:0020399 galectin-8 measurement 04-non-disease +EFO:0020400 gdnf family receptor alpha-1 measurement 04-non-disease +EFO:0020401 gdnf family receptor alpha-3 measurement 04-non-disease +EFO:0020402 gelsolin measurement 04-non-disease +EFO:0020403 glia-derived nexin measurement 04-non-disease +EFO:0020404 glial fibrillary acidic protein measurement 04-non-disease +EFO:0020405 glucocorticoid receptor measurement 04-non-disease +EFO:0020406 glucokinase regulatory protein measurement 04-non-disease +EFO:0020407 glucose-6-phosphate isomerase measurement 04-non-disease +EFO:0020408 glutamate carboxypeptidase 2 measurement 04-non-disease +EFO:0020409 glutathione s-transferase a3 measurement 04-non-disease +EFO:0020410 glutathione s-transferase p measurement 04-non-disease +EFO:0020411 glyceraldehyde-3-phosphate dehydrogenase measurement 04-non-disease +EFO:0020412 glycogen synthase kinase-3 alpha/beta measurement 04-non-disease +EFO:0020413 glycylpeptide n-tetradecanoyltransferase 1 measurement 04-non-disease +EFO:0020414 glypican-2 measurement 04-non-disease +EFO:0020415 glypican-3 measurement 04-non-disease +EFO:0020416 granulocyte colony-stimulating factor receptor measurement 04-non-disease +EFO:0020417 granulocyte-macrophage colony-stimulating factor measurement 04-non-disease +EFO:0020418 granzyme b measurement 04-non-disease +EFO:0020419 granzyme h measurement 04-non-disease +EFO:0020420 grb2-related adapter protein 2 measurement 04-non-disease +EFO:0020421 gremlin-1 measurement 04-non-disease +EFO:0020422 gro-beta/gamma measurement 04-non-disease +EFO:0020423 group 10 secretory phospholipase A2 measurement 04-non-disease +EFO:0020424 group IIe secretory phospholipase A2 measurement 04-non-disease +EFO:0020425 growth arrest-specific protein 1 measurement 04-non-disease +EFO:0020426 growth hormone receptor measurement 04-non-disease +EFO:0020427 growth/differentiation factor 11 measurement 04-non-disease +EFO:0020428 growth/differentiation factor 2 measurement 04-non-disease +EFO:0020429 growth/differentiation factor 5 measurement 04-non-disease +EFO:0020430 growth/differentiation factor 9 measurement 04-non-disease +EFO:0020431 GTP-binding nuclear protein ran measurement 04-non-disease +EFO:0020432 GTPase kras measurement 04-non-disease +EFO:0020433 heat shock 70 kda protein 1a/1b measurement 04-non-disease +EFO:0020434 heat shock cognate 71 kda protein measurement 04-non-disease +EFO:0020435 heat shock protein hsp 90-alpha/beta measurement 04-non-disease +EFO:0020436 heme oxygenase 2 measurement 04-non-disease +EFO:0020437 heparan-sulfate 6-o-sulfotransferase 1 measurement 04-non-disease +EFO:0020438 heparin-binding egf-like growth factor measurement 04-non-disease +EFO:0020439 hepatoma-derived growth factor-related protein 2 measurement 04-non-disease +EFO:0020440 hepcidin measurement 04-non-disease +EFO:0020441 heterogeneous nuclear ribonucleoprotein a/b measurement 04-non-disease +EFO:0020442 heterogeneous nuclear ribonucleoprotein k measurement 04-non-disease +EFO:0020443 heterogeneous nuclear ribonucleoprotein q measurement 04-non-disease +EFO:0020444 heterogeneous nuclear ribonucleoproteins A2/B1 measurement 04-non-disease +EFO:0020445 high affinity cAMP-specific 3',5'-cyclic phosphodiesterase 7a measurement 04-non-disease +EFO:0020446 high affinity cgmp-specific 3',5'-cyclic phosphodiesterase 9a measurement 04-non-disease +EFO:0020447 high affinity immunoglobulin gamma fc receptor i measurement 04-non-disease +EFO:0020448 high affinity nerve growth factor receptor measurement 04-non-disease +EFO:0020449 high mobility group protein B1 measurement 04-non-disease +EFO:0020450 histidine triad nucleotide-binding protein 1 measurement 04-non-disease +EFO:0020451 histone acetyltransferase kat6a measurement 04-non-disease +EFO:0020452 histone acetyltransferase type b catalytic subunit measurement 04-non-disease +EFO:0020453 histone deacetylase 8 measurement 04-non-disease +EFO:0020454 histone H2A.Z measurement 04-non-disease +EFO:0020455 histone-lysine n-methyltransferase EHMT2 measurement 04-non-disease +EFO:0020456 homeobox protein nanog measurement 04-non-disease +EFO:0020457 homeodomain-interacting protein kinase 3 measurement 04-non-disease +EFO:0020458 hsp90 co-chaperone CDC37 measurement 04-non-disease +EFO:0020459 hyaluronan and proteoglycan link protein 1 measurement 04-non-disease +EFO:0020460 icos ligand measurement 04-non-disease +EFO:0020461 iduronate 2-sulfatase measurement 04-non-disease +EFO:0020462 immunoglobulin alpha fc receptor measurement 04-non-disease +EFO:0020463 immunoglobulin D measurement 04-non-disease +EFO:0020464 immunoglobulin E measurement 04-non-disease +EFO:0020465 immunoglobulin G measurement 04-non-disease +EFO:0020466 immunoglobulin M measurement 04-non-disease +EFO:0020467 importin subunit alpha-1 measurement 04-non-disease +EFO:0020468 importin subunit beta-1 measurement 04-non-disease +EFO:0020469 inhibin beta A chain measurement 04-non-disease +EFO:0020470 inhibin beta A chain:inhibin beta B chain heterodimer measurement 04-non-disease +EFO:0020471 inhibitor of growth protein 1 measurement 04-non-disease +EFO:0020472 insulin-degrading enzyme measurement 04-non-disease +EFO:0020473 insulin-like growth factor 1 receptor measurement 04-non-disease +EFO:0020474 insulin-like growth factor-binding protein 1 measurement 04-non-disease +EFO:0020475 insulin-like growth factor-binding protein 2 measurement 04-non-disease +EFO:0020476 insulin-like growth factor-binding protein 4 measurement 04-non-disease +EFO:0020477 insulin-like growth factor-binding protein 5 measurement 04-non-disease +EFO:0020478 insulin-like growth factor-binding protein 6 measurement 04-non-disease +EFO:0020479 integrin alpha-IIb: beta-3 complex measurement 04-non-disease +EFO:0020480 integrin alpha-V: beta-5 complex measurement 04-non-disease +EFO:0020481 inter-alpha-trypsin inhibitor heavy chain h4 measurement 04-non-disease +EFO:0020482 intercellular adhesion molecule 3 measurement 04-non-disease +EFO:0020483 interferon alpha-2 measurement 04-non-disease +EFO:0020484 interferon gamma receptor 1 measurement 04-non-disease +EFO:0020485 interferon lambda-1 measurement 04-non-disease +EFO:0020486 interferon lambda-2 measurement 04-non-disease +EFO:0020487 interleukin-1 receptor type 1 measurement 04-non-disease +EFO:0020488 interleukin-10 measurement 04-non-disease +EFO:0020489 interleukin-10 receptor subunit beta measurement 04-non-disease +EFO:0020490 interleukin-11 measurement 04-non-disease +EFO:0020491 interleukin-11 receptor subunit alpha measurement 04-non-disease +EFO:0020492 interleukin-12 receptor subunit beta-2 measurement 04-non-disease +EFO:0020493 interleukin-13 receptor subunit alpha-1 measurement 04-non-disease +EFO:0020494 interleukin-17 receptor c measurement 04-non-disease +EFO:0020495 interleukin-18-binding protein measurement 04-non-disease +EFO:0020496 interleukin-20 measurement 04-non-disease +EFO:0020497 interleukin-20 receptor subunit alpha measurement 04-non-disease +EFO:0020498 interleukin-22 measurement 04-non-disease +EFO:0020499 interleukin-22 receptor subunit alpha-1 measurement 04-non-disease +EFO:0020500 interleukin-22 receptor subunit alpha-2 measurement 04-non-disease +EFO:0020501 interleukin-23 measurement 04-non-disease +EFO:0020502 interleukin-24 measurement 04-non-disease +EFO:0020503 interleukin-3 measurement 04-non-disease +EFO:0020504 interleukin-3 receptor subunit alpha measurement 04-non-disease +EFO:0020505 interleukin-34 measurement 04-non-disease +EFO:0020506 interleukin-37 measurement 04-non-disease +EFO:0020507 interleukin-4 receptor subunit alpha measurement 04-non-disease +EFO:0020508 interleukin-7 receptor subunit alpha measurement 04-non-disease +EFO:0020509 junctional adhesion molecule B measurement 04-non-disease +EFO:0020510 junctional adhesion molecule C measurement 04-non-disease +EFO:0020511 junctional adhesion molecule-like measurement 04-non-disease +EFO:0020512 kallikrein-13 measurement 04-non-disease +EFO:0020513 kallikrein-14 measurement 04-non-disease +EFO:0020514 kallikrein-4 measurement 04-non-disease +EFO:0020515 kallikrein-5 measurement 04-non-disease +EFO:0020516 kallikrein-8 measurement 04-non-disease +EFO:0020517 keratin, type I cytoskeletal 18 measurement 04-non-disease +EFO:0020518 killer cell immunoglobulin-like receptor 3DL2 measurement 04-non-disease +EFO:0020519 killer cell immunoglobulin-like receptor 3DS1 measurement 04-non-disease +EFO:0020520 killer cell lectin-like receptor subfamily F member 1 measurement 04-non-disease +EFO:0020521 kin of IRRE-like protein 3 measurement 04-non-disease +EFO:0020522 kinesin-like protein KIF23 measurement 04-non-disease +EFO:0020523 kremen protein 2 measurement 04-non-disease +EFO:0020524 L-lactate dehydrogenase B chain measurement 04-non-disease +EFO:0020525 lactoperoxidase measurement 04-non-disease +EFO:0020526 lactotransferrin measurement 04-non-disease +EFO:0020527 lamin-B1 measurement 04-non-disease +EFO:0020528 laminin measurement 04-non-disease +EFO:0020529 layilin measurement 04-non-disease +EFO:0020530 legumain measurement 04-non-disease +EFO:0020531 leucine-rich repeat transmembrane neuronal protein 1 measurement 04-non-disease +EFO:0020532 leucine-rich repeat transmembrane neuronal protein 3 measurement 04-non-disease +EFO:0020533 leucine-rich repeat transmembrane protein FLRT1 measurement 04-non-disease +EFO:0020534 leucine-rich repeats and immunoglobulin-like domains protein 3 measurement 04-non-disease +EFO:0020535 leukotriene a-4 hydrolase measurement 04-non-disease +EFO:0020536 ligand-dependent nuclear receptor corepressor-like protein measurement 04-non-disease +EFO:0020537 limbic system-associated membrane protein measurement 04-non-disease +EFO:0020538 low-density lipoprotein receptor-related protein 8 measurement 04-non-disease +EFO:0020539 lymphatic vessel endothelial hyaluronic acid receptor 1 measurement 04-non-disease +EFO:0020540 lymphocyte activation gene 3 protein measurement 04-non-disease +EFO:0020541 lymphocyte antigen 86 measurement 04-non-disease +EFO:0020542 lymphotoxin alpha1:beta2 measurement 04-non-disease +EFO:0020543 lymphotoxin alpha2:beta1 measurement 04-non-disease +EFO:0020544 lymphotoxin-alpha measurement 04-non-disease +EFO:0020545 lysosome membrane protein 2 measurement 04-non-disease +EFO:0020546 macrophage colony-stimulating factor 1 measurement 04-non-disease +EFO:0020547 macrophage colony-stimulating factor 1 receptor measurement 04-non-disease +EFO:0020548 macrophage mannose receptor 1 measurement 04-non-disease +EFO:0020549 macrophage-capping protein measurement 04-non-disease +EFO:0020550 macrophage-stimulating protein receptor measurement 04-non-disease +EFO:0020551 malate dehydrogenase, cytoplasmic measurement 04-non-disease +EFO:0020552 mammaglobin-b measurement 04-non-disease +EFO:0020553 MAP kinase-activated protein kinase 5 measurement 04-non-disease +EFO:0020554 mast/stem cell growth factor receptor kit measurement 04-non-disease +EFO:0020555 matrilin-2 measurement 04-non-disease +EFO:0020556 matrilin-3 measurement 04-non-disease +EFO:0020557 matrix extracellular phosphoglycoprotein measurement 04-non-disease +EFO:0020558 matrix metalloproteinase-14 measurement 04-non-disease +EFO:0020559 matrix metalloproteinase-16 measurement 04-non-disease +EFO:0020560 matrix metalloproteinase-17 measurement 04-non-disease +EFO:0020561 matrix metalloproteinase-9 measurement 04-non-disease +EFO:0020562 megakaryocyte-associated tyrosine-protein kinase measurement 04-non-disease +EFO:0020563 membrane frizzled-related protein measurement 04-non-disease +EFO:0020564 membrane metallo-endopeptidase-like 1 measurement 04-non-disease +EFO:0020565 mesothelin measurement 04-non-disease +EFO:0020566 metalloproteinase inhibitor 1 measurement 04-non-disease +EFO:0020567 metalloproteinase inhibitor 2 measurement 04-non-disease +EFO:0020568 methionine aminopeptidase 1 measurement 04-non-disease +EFO:0020569 methyl-cpg-binding domain protein 4 measurement 04-non-disease +EFO:0020570 microtubule-associated protein tau measurement 04-non-disease +EFO:0020571 midkine measurement 04-non-disease +EFO:0020572 mitochondrial glutamate carrier 2 measurement 04-non-disease +EFO:0020573 mitochondrial import inner membrane translocase subunit tim14 measurement 04-non-disease +EFO:0020574 mitogen-activated protein kinase 1 measurement 04-non-disease +EFO:0020575 mitogen-activated protein kinase 11 measurement 04-non-disease +EFO:0020576 mitogen-activated protein kinase 12 measurement 04-non-disease +EFO:0020577 mitogen-activated protein kinase 13 measurement 04-non-disease +EFO:0020578 mitogen-activated protein kinase 14 measurement 04-non-disease +EFO:0020579 mitogen-activated protein kinase 3 measurement 04-non-disease +EFO:0020580 mitogen-activated protein kinase 8 measurement 04-non-disease +EFO:0020581 mitogen-activated protein kinase 9 measurement 04-non-disease +EFO:0020582 mitogen-activated protein kinase kinase kinase 7:tgf-beta-activated kinase 1 and map3k7-binding protein 1 fusion measurement 04-non-disease +EFO:0020583 moesin measurement 04-non-disease +EFO:0020584 muellerian-inhibiting factor measurement 04-non-disease +EFO:0020585 myeloblastin measurement 04-non-disease +EFO:0020586 n-acetylglucosamine-6-sulfatase measurement 04-non-disease +EFO:0020587 nascent polypeptide-associated complex subunit alpha measurement 04-non-disease +EFO:0020588 natural cytotoxicity triggering receptor 1 measurement 04-non-disease +EFO:0020589 natural cytotoxicity triggering receptor 2 measurement 04-non-disease +EFO:0020590 netrin receptor UNC5C measurement 04-non-disease +EFO:0020591 netrin receptor UNC5D measurement 04-non-disease +EFO:0020592 netrin-4 measurement 04-non-disease +EFO:0020593 neural cell adhesion molecule 1, 120 kda isoform measurement 04-non-disease +EFO:0020594 neural cell adhesion molecule L1 measurement 04-non-disease +EFO:0020595 neural cell adhesion molecule l1-like protein measurement 04-non-disease +EFO:0020596 neurexin-1-beta measurement 04-non-disease +EFO:0020597 neurexin-3-beta measurement 04-non-disease +EFO:0020598 neuroblastoma suppressor of tumorigenicity 1 measurement 04-non-disease +EFO:0020599 neurogenic locus notch homolog protein 2 measurement 04-non-disease +EFO:0020600 neurogenic locus notch homolog protein 3 measurement 04-non-disease +EFO:0020601 neuroligin-4, x-linked measurement 04-non-disease +EFO:0020602 neuronal cell adhesion molecule measurement 04-non-disease +EFO:0020603 neuropilin-1 measurement 04-non-disease +EFO:0020604 neurotrophin-4 measurement 04-non-disease +EFO:0020605 neutrophil elastase measurement 04-non-disease +EFO:0020606 neutrophil-activating peptide 2 measurement 04-non-disease +EFO:0020607 nicotinamide phosphoribosyltransferase measurement 04-non-disease +EFO:0020608 nidogen-2 measurement 04-non-disease +EFO:0020609 NKG2-D ligand 1 measurement 04-non-disease +EFO:0020610 NKG2-D ligand 2 measurement 04-non-disease +EFO:0020611 NKG2-D ligand 3 measurement 04-non-disease +EFO:0020612 NFSL1 cofactor p47 measurement 04-non-disease +EFO:0020613 nt-3 growth factor receptor measurement 04-non-disease +EFO:0020614 nuclear receptor subfamily 1 group d member 1 measurement 04-non-disease +EFO:0020615 nucleoside diphosphate kinase B measurement 04-non-disease +EFO:0020616 NDUC domain-containing protein 3 measurement 04-non-disease +EFO:0020617 olfactomedin-4 measurement 04-non-disease +EFO:0020618 opioid-binding protein/cell adhesion molecule measurement 04-non-disease +EFO:0020619 osteomodulin measurement 04-non-disease +EFO:0020620 oxidized low-density lipoprotein receptor 1 measurement 04-non-disease +EFO:0020621 pancreatic hormone measurement 04-non-disease +EFO:0020622 parathyroid hormone-related protein measurement 04-non-disease +EFO:0020623 peptide yy measurement 04-non-disease +EFO:0020624 peptidoglycan recognition protein 1 measurement 04-non-disease +EFO:0020625 peptidyl-prolyl cis-trans isomerase A measurement 04-non-disease +EFO:0020626 peptidyl-prolyl cis-trans isomerase B measurement 04-non-disease +EFO:0020627 peptidyl-prolyl cis-trans isomerase F, mitochondrial measurement 04-non-disease +EFO:0020628 periostin measurement 04-non-disease +EFO:0020629 peroxiredoxin-1 measurement 04-non-disease +EFO:0020630 peroxiredoxin-5, mitochondrial measurement 04-non-disease +EFO:0020631 peroxiredoxin-6 measurement 04-non-disease +EFO:0020632 persephin measurement 04-non-disease +EFO:0020633 pescadillo homolog measurement 04-non-disease +EFO:0020634 phosphatidylethanolamine-binding protein 1 measurement 04-non-disease +EFO:0020635 phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase pten measurement 04-non-disease +EFO:0020636 phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform:phosphatidylinositol 3-kinase regulatory subunit alpha complex measurement 04-non-disease +EFO:0020637 phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform measurement 04-non-disease +EFO:0020638 phosphoglycerate kinase 1 measurement 04-non-disease +EFO:0020639 phosphoglycerate mutase 1 measurement 04-non-disease +EFO:0020640 pituitary adenylate cyclase-activating polypeptide 27 measurement 04-non-disease +EFO:0020641 pituitary adenylate cyclase-activating polypeptide 38 measurement 04-non-disease +EFO:0020642 plasma serine protease inhibitor measurement 04-non-disease +EFO:0020643 plasmin measurement 04-non-disease +EFO:0020644 platelet factor 4 measurement 04-non-disease +EFO:0020645 platelet glycoprotein ib alpha chain measurement 04-non-disease +EFO:0020646 platelet-activating factor acetylhydrolase ib subunit beta measurement 04-non-disease +EFO:0020647 platelet-activating factor acetylhydrolase measurement 04-non-disease +EFO:0020648 platelet-derived growth factor c measurement 04-non-disease +EFO:0020649 platelet-derived growth factor subunitAmeasurement 04-non-disease +EFO:0020650 platelet-derived growth factor subunit b measurement 04-non-disease +EFO:0020651 pleiotrophin measurement 04-non-disease +EFO:0020652 prefoldin subunit 5 measurement 04-non-disease +EFO:0020653 probable g-protein coupled receptor 114 measurement 04-non-disease +EFO:0020654 programmed cell death 1 ligand 1 measurement 04-non-disease +EFO:0020655 prokineticin-1 measurement 04-non-disease +EFO:0020656 prolactin receptor measurement 04-non-disease +EFO:0020657 proliferating cell nuclear antigen measurement 04-non-disease +EFO:0020658 proliferation-associated protein 2g4 measurement 04-non-disease +EFO:0020659 prostaglandin g/h synthase 2 measurement 04-non-disease +EFO:0020660 prostate-specific antigen measurement 04-non-disease +EFO:0020661 proteasome activator complex subunit 1 measurement 04-non-disease +EFO:0020662 proteasome activator complex subunit 3 measurement 04-non-disease +EFO:0020663 proteasome subunit alpha type-1 measurement 04-non-disease +EFO:0020664 proteasome subunit alpha type-2 measurement 04-non-disease +EFO:0020665 proteasome subunit alpha type-6 measurement 04-non-disease +EFO:0020666 protein 4.1 measurement 04-non-disease +EFO:0020667 protein amnionless measurement 04-non-disease +EFO:0020668 protein disulfide-isomerase a3 measurement 04-non-disease +EFO:0020669 protein disulfide-isomerase measurement 04-non-disease +EFO:0020670 protein dj-1 measurement 04-non-disease +EFO:0020671 protein e7_hpv16 measurement 04-non-disease +EFO:0020672 protein e7_hpv18 measurement 04-non-disease +EFO:0020673 protein fam107a measurement 04-non-disease +EFO:0020674 protein fam107b measurement 04-non-disease +EFO:0020675 protein jagged-2 measurement 04-non-disease +EFO:0020676 protein kinase b alpha/beta/gamma measurement 04-non-disease +EFO:0020677 protein kinase c alpha type measurement 04-non-disease +EFO:0020678 protein kinase c beta type (splice variant beta-II) measurement 04-non-disease +EFO:0020679 protein kinase c delta type measurement 04-non-disease +EFO:0020680 protein kinase c gamma type measurement 04-non-disease +EFO:0020681 protein kinase c iota type measurement 04-non-disease +EFO:0020682 protein kinase c theta type measurement 04-non-disease +EFO:0020683 protein kinase c zeta type measurement 04-non-disease +EFO:0020684 radical prostatectomy 04-non-disease +EFO:0020685 protein nov homolog measurement 04-non-disease +EFO:0020686 protein rev_hv2be measurement 04-non-disease +EFO:0020687 protein s100-a9 measurement 04-non-disease +EFO:0020688 protein set measurement 04-non-disease +EFO:0020689 protein wnt-7a measurement 04-non-disease +EFO:0020690 protein-glutamine gamma-glutamyltransferase e measurement 04-non-disease +EFO:0020691 protein-tyrosine kinase 6 measurement 04-non-disease +EFO:0020692 prothrombin measurement 04-non-disease +EFO:0020693 pulmonary surfactant-associated protein d measurement 04-non-disease +EFO:0020694 pyridoxal phosphate phosphatase measurement 04-non-disease +EFO:0020695 pyruvate kinase pkm measurement 04-non-disease +EFO:0020696 r-spondin-2 measurement 04-non-disease +EFO:0020697 rab gdp dissociation inhibitor beta measurement 04-non-disease +EFO:0020698 ras GTPase-activating protein 1 measurement 04-non-disease +EFO:0020699 ras-related c3 botulinum toxin substrate 1 measurement 04-non-disease +EFO:0020700 receptor tyrosine-protein kinase erbb-2 measurement 04-non-disease +EFO:0020701 receptor tyrosine-protein kinase erbb-3 measurement 04-non-disease +EFO:0020702 receptor tyrosine-protein kinase erbb-4 measurement 04-non-disease +EFO:0020703 receptor-type tyrosine-protein kinase flt3 measurement 04-non-disease +EFO:0020704 reticulon-4 measurement 04-non-disease +EFO:0020705 reticulon-4 receptor measurement 04-non-disease +EFO:0020706 retinoblastoma-associated protein measurement 04-non-disease +EFO:0020707 retinol-binding protein 4 measurement 04-non-disease +EFO:0020708 rgm domain family member b measurement 04-non-disease +EFO:0020709 ribosomal protein s6 kinase alpha-3 measurement 04-non-disease +EFO:0020710 ribosomal protein s6 kinase alpha-5 measurement 04-non-disease +EFO:0020711 ribosome maturation protein sbds measurement 04-non-disease +EFO:0020712 rna-binding protein 39 measurement 04-non-disease +EFO:0020713 roundabout homolog 2 measurement 04-non-disease +EFO:0020714 roundabout homolog 3 measurement 04-non-disease +EFO:0020715 s-phase kinase-associated protein 1 measurement 04-non-disease +EFO:0020716 scavenger receptor class F member 2 measurement 04-non-disease +EFO:0020717 scavenger receptor cysteine-rich type 1 protein m130 measurement 04-non-disease +EFO:0020718 secreted frizzled-related protein 1 measurement 04-non-disease +EFO:0020719 secretin measurement 04-non-disease +EFO:0020720 seizure 6-like protein 2 measurement 04-non-disease +EFO:0020721 semaphorin-6A measurement 04-non-disease +EFO:0020722 seprase measurement 04-non-disease +EFO:0020723 serine protease HTRA2, mitochondrial measurement 04-non-disease +EFO:0020724 serine/threonine-protein kinase 16 measurement 04-non-disease +EFO:0020725 serine/threonine-protein kinase CHK11 measurement 04-non-disease +EFO:0020726 serine/threonine-protein kinase CHK2 measurement 04-non-disease +EFO:0020727 serine/threonine-protein kinase MRCK beta measurement 04-non-disease +EFO:0020728 serine/threonine-protein kinase PAK 3 measurement 04-non-disease +EFO:0020729 serine/threonine-protein kinase PAK 6 measurement 04-non-disease +EFO:0020730 serine/threonine-protein kinase PAK 7 measurement 04-non-disease +EFO:0020731 serine/threonine-protein kinase PIM-1 measurement 04-non-disease +EFO:0020732 serine/threonine-protein kinase PLK1 measurement 04-non-disease +EFO:0020733 serine/threonine-protein kinase receptor R3 measurement 04-non-disease +EFO:0020734 serine/threonine-protein kinase TBK1 measurement 04-non-disease +EFO:0020735 serotransferrin measurement 04-non-disease +EFO:0020736 serum paraoxonase/arylesterase 1 measurement 04-non-disease +EFO:0020737 sh2 domain-containing protein 1a measurement 04-non-disease +EFO:0020738 shc-transforming protein 1 measurement 04-non-disease +EFO:0020739 sialic acid-binding ig-like lectin 7 measurement 04-non-disease +EFO:0020740 sialoadhesin measurement 04-non-disease +EFO:0020741 SLAM family member 5 measurement 04-non-disease +EFO:0020742 SLAM family member 6 measurement 04-non-disease +EFO:0020743 slit and ntrk-like protein 5 measurement 04-non-disease +EFO:0020744 small glutamine-rich tetratricopeptide repeat-containing protein alpha measurement 04-non-disease +EFO:0020745 somatostatin-28 measurement 04-non-disease +EFO:0020746 sonic hedgehog protein measurement 04-non-disease +EFO:0020747 sorting nexin-4 measurement 04-non-disease +EFO:0020748 SPARC measurement 04-non-disease +EFO:0020749 spectrin alpha chain, non-erythrocytic 1 measurement 04-non-disease +EFO:0020750 sphingosine kinase 1 measurement 04-non-disease +EFO:0020751 sphingosine kinase 2 measurement 04-non-disease +EFO:0020752 stabilin-2 measurement 04-non-disease +EFO:0020753 stanniocalcin-1 measurement 04-non-disease +EFO:0020754 stem cell growth factor-alpha measurement 04-non-disease +EFO:0020755 stress-induced-phosphoprotein 1 measurement 04-non-disease +EFO:0020756 stromal cell-derived factor 1 measurement 04-non-disease +EFO:0020757 sumo-conjugating enzyme UBC9 measurement 04-non-disease +EFO:0020758 superoxide dismutase [Cu-Zn] measurement 04-non-disease +EFO:0020759 syntaxin-1a measurement 04-non-disease +EFO:0020760 t-cell surface glycoprotein CD4 measurement 04-non-disease +EFO:0020761 t-lymphocyte activation antigen CD80 measurement 04-non-disease +EFO:0020762 t-lymphocyte activation antigen CD86 measurement 04-non-disease +EFO:0020763 tartrate-resistant acid phosphatase type 5 measurement 04-non-disease +EFO:0020764 tata-box-binding protein measurement 04-non-disease +EFO:0020765 testican-1 measurement 04-non-disease +EFO:0020766 testican-2 measurement 04-non-disease +EFO:0020767 tgf-beta receptor type-2 measurement 04-non-disease +EFO:0020768 thrombin measurement 04-non-disease +EFO:0020769 thrombopoietin receptor measurement 04-non-disease +EFO:0020770 thrombospondin-1 measurement 04-non-disease +EFO:0020771 thrombospondin-4 measurement 04-non-disease +EFO:0020772 thymic stromal lymphopoietin measurement 04-non-disease +EFO:0020773 thymidine kinase, cytosolic measurement 04-non-disease +EFO:0020774 thymidylate synthase measurement 04-non-disease +EFO:0020775 thyroid peroxidase measurement 04-non-disease +EFO:0020776 tissue-type plasminogen activator measurement 04-non-disease +EFO:0020777 toll-like receptor 2 measurement 04-non-disease +EFO:0020778 transcription factor IIIb 90 kda subunit measurement 04-non-disease +EFO:0020779 transforming growth factor beta receptor type 3 measurement 04-non-disease +EFO:0020780 transforming growth factor beta-1 measurement 04-non-disease +EFO:0020781 transforming growth factor beta-2 measurement 04-non-disease +EFO:0020782 transforming growth factor beta-3 measurement 04-non-disease +EFO:0020783 transketolase measurement 04-non-disease +EFO:0020784 translationally-controlled tumor protein measurement 04-non-disease +EFO:0020785 triosephosphate isomerase measurement 04-non-disease +EFO:0020786 tropomyosin alpha-1 chain measurement 04-non-disease +EFO:0020787 tropomyosin beta chain measurement 04-non-disease +EFO:0020788 troponin i, cardiac muscle measurement 04-non-disease +EFO:0020789 troponin i, fast skeletal muscle measurement 04-non-disease +EFO:0020790 trypsin-1 measurement 04-non-disease +EFO:0020791 trypsin-3 measurement 04-non-disease +EFO:0020792 tryptase gamma measurement 04-non-disease +EFO:0020793 tumor necrosis factor ligand superfamily member 13B measurement 04-non-disease +EFO:0020794 tumor necrosis factor ligand superfamily member 15 measurement 04-non-disease +EFO:0020795 tumor necrosis factor ligand superfamily member 18 measurement 04-non-disease +EFO:0020796 tumor necrosis factor ligand superfamily member 4 measurement 04-non-disease +EFO:0020797 tumor necrosis factor ligand superfamily member 6, soluble form measurement 04-non-disease +EFO:0020798 tumor necrosis factor ligand superfamily member 9 measurement 04-non-disease +EFO:0020799 tumor necrosis factor receptor superfamily member 10A measurement 04-non-disease +EFO:0020800 tumor necrosis factor receptor superfamily member 11A measurement 04-non-disease +EFO:0020801 tumor necrosis factor receptor superfamily member 11B measurement 04-non-disease +EFO:0020802 tumor necrosis factor receptor superfamily member 12A measurement 04-non-disease +EFO:0020803 tumor necrosis factor receptor superfamily member 13B measurement 04-non-disease +EFO:0020804 tumor necrosis factor receptor superfamily member 13C measurement 04-non-disease +EFO:0020805 tumor necrosis factor receptor superfamily member 14 measurement 04-non-disease +EFO:0020806 tumor necrosis factor receptor superfamily member 17 measurement 04-non-disease +EFO:0020807 tumor necrosis factor receptor superfamily member 18 measurement 04-non-disease +EFO:0020808 tumor necrosis factor receptor superfamily member 19 measurement 04-non-disease +EFO:0020809 tumor necrosis factor receptor superfamily member 1Ameasurement 04-non-disease +EFO:0020810 tumor necrosis factor receptor superfamily member 21 measurement 04-non-disease +EFO:0020811 tumor necrosis factor receptor superfamily member 25 measurement 04-non-disease +EFO:0020812 tumor necrosis factor receptor superfamily member 27 measurement 04-non-disease +EFO:0020813 tumor necrosis factor receptor superfamily member 3 measurement 04-non-disease +EFO:0020814 tumor necrosis factor receptor superfamily member 4 measurement 04-non-disease +EFO:0020815 tumor necrosis factor receptor superfamily member 6B measurement 04-non-disease +EFO:0020816 tumor necrosis factor receptor superfamily member 8 measurement 04-non-disease +EFO:0020817 tumor-associated calcium signal transducer 2 measurement 04-non-disease +EFO:0020818 tyrosine-protein kinase ABL1 measurement 04-non-disease +EFO:0020819 tyrosine-protein kinase BTK measurement 04-non-disease +EFO:0020820 tyrosine-protein kinase CSK measurement 04-non-disease +EFO:0020821 tyrosine-protein kinase FER measurement 04-non-disease +EFO:0020822 tyrosine-protein kinase FGR measurement 04-non-disease +EFO:0020823 tyrosine-protein kinase FYN measurement 04-non-disease +EFO:0020824 tyrosine-protein kinase HCK measurement 04-non-disease +EFO:0020825 tyrosine-protein kinase JAK2 measurement 04-non-disease +EFO:0020826 tyrosine-protein kinase LCK measurement 04-non-disease +EFO:0020827 tyrosine-protein kinase lyn measurement 04-non-disease +EFO:0020828 tyrosine-protein kinase LYN, isoform b measurement 04-non-disease +EFO:0020829 tyrosine-protein kinase receptor TYRO3 measurement 04-non-disease +EFO:0020830 tyrosine-protein kinase TEC measurement 04-non-disease +EFO:0020831 tyrosine-protein kinase transmembrane receptor ROR1 measurement 04-non-disease +EFO:0020832 tyrosine-protein kinase YES measurement 04-non-disease +EFO:0020833 tyrosine-protein kinase ZAP-70 measurement 04-non-disease +EFO:0020834 tyrosine-protein phosphatase non-receptor type 1 measurement 04-non-disease +EFO:0020835 tyrosine-protein phosphatase non-receptor type 11 measurement 04-non-disease +EFO:0020836 tyrosine-protein phosphatase non-receptor type 2 measurement 04-non-disease +EFO:0020837 tyrosine-protein phosphatase non-receptor type 6 measurement 04-non-disease +EFO:0020838 ubiquitin carboxyl-terminal hydrolase isozyme L1 measurement 04-non-disease +EFO:0020839 ubiquitin measurement 04-non-disease +EFO:0020840 ubiquitin-conjugating enzyme E2 L3 measurement 04-non-disease +EFO:0020841 ubiquitin-conjugating enzyme E2 N measurement 04-non-disease +EFO:0020842 ubiquitin-fold modifier 1 measurement 04-non-disease +EFO:0020843 ubiquitin-fold modifier-conjugating enzyme 1 measurement 04-non-disease +EFO:0020844 ubiquitin+1, truncated mutation for UBB measurement 04-non-disease +EFO:0020845 vacuolar protein sorting-associated protein VTA1 homolog measurement 04-non-disease +EFO:0020846 vascular cell adhesion protein 1 measurement 04-non-disease +EFO:0020847 vascular endothelial growth factor A, isoform 121 measurement 04-non-disease +EFO:0020848 vascular endothelial growth factor C measurement 04-non-disease +EFO:0020849 vasoactive intestinal peptide measurement 04-non-disease +EFO:0020850 vitamin k-dependent protein S measurement 04-non-disease +EFO:0020851 vps10 domain-containing receptor sorcs2 measurement 04-non-disease +EFO:0020852 wap, kazal, immunoglobulin, kunitz and ntr domain-containing protein 1 measurement 04-non-disease +EFO:0020853 wnt inhibitory factor 1 measurement 04-non-disease +EFO:0020854 x-linked interleukin-1 receptor accessory protein-like 2 measurement 04-non-disease +EFO:0020855 x-ray repair cross-complementing protein 6 measurement 04-non-disease +EFO:0020856 xaa-pro aminopeptidase 1 measurement 04-non-disease +EFO:0020857 very low density lipoprotein cholesterol change measurement 04-non-disease +EFO:0020858 spastic paraplegia 84, autosomal recessive 01-disease-subtype +EFO:0020859 lipid change measurement 04-non-disease +EFO:0020860 soluble CD14 measurement 04-non-disease +EFO:0020861 ANGPTL8 measurement 04-non-disease +EFO:0020862 response to verapamil 04-non-disease +EFO:0020863 major adverse cardiovascular event measurement 04-non-disease +EFO:0020864 cerebellar volume measurement 04-non-disease +EFO:0020865 aortic measurement 04-non-disease +EFO:0020866 high density lipoprotein particle size change measurement 04-non-disease +EFO:0020867 remnant cholesterol change measurement 04-non-disease +EFO:0020868 diglyceride change measurement 04-non-disease +EFO:0020869 glycerophospholipid change measurement 04-non-disease +EFO:0020870 choline change measurement 04-non-disease +EFO:0020871 phosphatidylcholine change measurement 04-non-disease +EFO:0020872 sphingomyelin change measurement 04-non-disease +EFO:0020873 apolipoprotein A 1 change measurement 04-non-disease +EFO:0020874 apolipoprotein B change measurement 04-non-disease +EFO:0020875 fatty acid change measurement 04-non-disease +EFO:0020876 docosahexaenoic acid change measurement 04-non-disease +EFO:0020877 linoleic acid change measurement 04-non-disease +EFO:0020878 omega-3 polyunsaturated fatty acid change measurement 04-non-disease +EFO:0020879 omega-6 polyunsaturated fatty acid change measurement 04-non-disease +EFO:0020880 polyunsaturated fatty acid change measurement 04-non-disease +EFO:0020881 glucose change measurement 04-non-disease +EFO:0020882 lactate change measurement 04-non-disease +EFO:0020883 citrate change measurement 04-non-disease +EFO:0020884 alanine change measurement 04-non-disease +EFO:0020885 glutamine change measurement 04-non-disease +EFO:0020886 histidine change measurement 04-non-disease +EFO:0020887 isoleucine change measurement 04-non-disease +EFO:0020888 leucine change measurement 04-non-disease +EFO:0020889 valine change measurement 04-non-disease +EFO:0020890 phenylalanine change measurement 04-non-disease +EFO:0020891 tyrosine change measurement 04-non-disease +EFO:0020892 acetate change measurement 04-non-disease +EFO:0020893 3-hydroxybutyrate change measurement 04-non-disease +EFO:0020894 creatinine change measurement 04-non-disease +EFO:0020895 serum albumin change measurement 04-non-disease +EFO:0020896 glycoprotein change measurement 04-non-disease +EFO:0020897 citrus intake measurement 04-non-disease +EFO:0020898 skeletal age 04-non-disease +EFO:0020899 filaggrin gene expression measurement 04-non-disease +EFO:0020901 chylomicron change measurement 04-non-disease +EFO:0020902 bombay phenotype 04-non-disease +EFO:0020903 phospholipid change measurement 04-non-disease +EFO:0020904 esterified cholesterol change measurement 04-non-disease +EFO:0020905 free cholesterol change measurement 04-non-disease +EFO:0020906 intermediate density lipoprotein change measurement 04-non-disease +EFO:0020907 very low density lipoprotein particle size change measurement 04-non-disease +EFO:0020908 low density lipoprotein particle size change measurement 04-non-disease +EFO:0020909 impaired psychomotor skills 04-non-disease +EFO:0020910 thermal burn 04-non-disease +EFO:0020911 overdose 01-disease-subtype +EFO:0020912 decreased kidney function 04-non-disease +EFO:0020913 electrocardiogram repolarisation abnormality 04-non-disease +EFO:0020914 disorientation 02-disease-root +EFO:0020915 uterine hyperstimulation 02-disease-root +EFO:0020916 performance enhancing product use 01-disease-subtype +EFO:0020917 oculomucocutaneous syndrome 02-disease-root +EFO:0020918 non-allergic anaphylaxis 01-disease-subtype +EFO:0020919 subacute myelo-opticoneuropathy 02-disease-root +EFO:0020920 hepatic lesion 02-disease-root +EFO:0020921 hemorrhagic stroke 01-disease-subtype +EFO:0020923 accidental overdose 01-disease-subtype +EFO:0020924 intentional overdose 01-disease-subtype +EFO:0020925 angina unstable 04-non-disease +EFO:0020926 noninfective encephalitis 02-disease-root +EFO:0020927 skin reaction 02-disease-root +EFO:0020928 occular toxicity 01-disease-subtype +EFO:0020929 electrocardiogram PR prolongation 04-non-disease +EFO:0020930 immune-mediated adverse reaction 04-non-disease +EFO:0020932 galectin-1 measurement 04-non-disease +EFO:0020933 HIV resevoir measurement 04-non-disease +EFO:0020937 inherited macular dystrophy 02-disease-root +EFO:0020940 platelet function test 04-non-disease +EFO:0020941 lysophosphatidylcholine 15:0 measurement 04-non-disease +EFO:0020942 propionylcarnitine measurement 04-non-disease +EFO:0020943 cholesterol:total lipids ratio 04-non-disease +EFO:0020944 cholesteryl esters:total lipids ratio 04-non-disease +EFO:0020945 free cholesterol:total lipids ratio 04-non-disease +EFO:0020946 phospholipids:total lipids ratio 04-non-disease +EFO:0020947 triglycerides:total lipids ratio 04-non-disease +EFO:0020948 salicylic acid measurement 04-non-disease +EFO:0020949 clonal hematopoiesis mutation measurement 04-non-disease +EFO:0020950 apolipoprotein C measurement 04-non-disease +EFO:0020951 apolipoprotein H measurement 04-non-disease +EFO:0020952 dopamine beta-hydroxylase measurement 04-non-disease +EFO:0020953 omentin measurement 04-non-disease +EFO:0020954 pigement epithleium-derived factor (PEDF) measurement 04-non-disease +EFO:0020955 beta-microseminoprotein measurement 04-non-disease +EFO:0020956 pancreatic secretory trypsin inhibitor protein measurement 04-non-disease +EFO:0020957 tetranectin measurement 04-non-disease +EFO:0020958 total brassicasterol measurement 04-non-disease +EFO:0020959 free brassicasterol measurement 04-non-disease +EFO:0020960 esterified brassicasterol measurement 04-non-disease +EFO:0020961 free lanosterol measurement 04-non-disease +EFO:0020962 total campesterol measurement 04-non-disease +EFO:0020963 free campesterol measurement 04-non-disease +EFO:0020964 esterified campesterol measurement 04-non-disease +EFO:0020965 total sitosterol measurement 04-non-disease +EFO:0020966 free sitosterol measurement 04-non-disease +EFO:0020967 esterified sitosterol measurement 04-non-disease +EFO:0020968 total stigmasterol measurement 04-non-disease +EFO:0020969 free stigmasterol measurement 04-non-disease +EFO:0020970 esterified stigmasterol measurement 04-non-disease +EFO:0020971 internalizing disorder 02-disease-root +EFO:0020972 revision of total knee arthroplasty 04-non-disease +EFO:0020973 revision of total hip arthroplasty 04-non-disease +EFO:0020974 revision of total joint arthroplasty 04-non-disease +EFO:0020975 total knee arthroplasty 04-non-disease +EFO:0020976 response to steroid 04-non-disease +EFO:0020977 occupational attainment 04-non-disease +EFO:0020979 digestive system surgery 04-non-disease +EFO:0020980 radiation exposure 04-non-disease +EFO:0020981 dependence on enabling machines and devices 04-non-disease +EFO:0020984 skin sensitization 02-disease-root +EFO:0020986 response to ustekinumab 04-non-disease +EFO:0020987 mastectomy 04-non-disease +EFO:0020988 blood transfusion 04-non-disease +EFO:0020989 bone marrow transplantation 04-non-disease +EFO:0020990 arginine measurement 04-non-disease +EFO:0020991 ethanolamine measurement 04-non-disease +EFO:0020992 alpha-amino-N-butyric acid measurement 04-non-disease +EFO:0020993 response to acamprosate 04-non-disease +EFO:0020994 cancer antigen 50 measurement 04-non-disease +EFO:0020995 squamous cell carcinoma antigen measurement 04-non-disease +EFO:0020996 response to methazolamide 04-non-disease +EFO:0020997 respnose to ondansetron 04-non-disease +EFO:0020999 2-hydroxybutyrate measurement 04-non-disease +EFO:0021000 cysteine measurement 04-non-disease +EFO:0021001 cysteine-glutathione disulfide measurement 04-non-disease +EFO:0021002 N-acetylglycine measurement 04-non-disease +EFO:0021003 4-acetamidobutanoate measurement 04-non-disease +EFO:0021004 3-methylhistidine measurement 04-non-disease +EFO:0021005 glutaroyl carnitine measurement 04-non-disease +EFO:0021006 pipecolate measurement 04-non-disease +EFO:0021007 3-3-hydroxyphenylpropionate measurement 04-non-disease +EFO:0021008 3- 4-hydroxyphenyl lactate measurement 04-non-disease +EFO:0021009 3-methoxytyrosine measurement 04-non-disease +EFO:0021010 3-phenylpropionate hydrocinnamate measurement 04-non-disease +EFO:0021011 phenol sulfate measurement 04-non-disease +EFO:0021012 phenylacetate measurement 04-non-disease +EFO:0021013 phenylacetylglutamine measurement 04-non-disease +EFO:0021014 C-glycosyltryptophan measurement 04-non-disease +EFO:0021015 indoleacetate measurement 04-non-disease +EFO:0021016 indolepropionate measurement 04-non-disease +EFO:0021017 tryptophan betaine measurement 04-non-disease +EFO:0021018 homocitrulline measurement 04-non-disease +EFO:0021019 2-methylbutyroylcarnitine measurement 04-non-disease +EFO:0021020 3-methyl-2-oxobutyrate measurement 04-non-disease +EFO:0021021 3-methyl-2-oxovalerate measurement 04-non-disease +EFO:0021022 4-methyl-2-oxopentanoate measurement 04-non-disease +EFO:0021023 isobutyrylcarnitine measurement 04-non-disease +EFO:0021024 levulinate 4-oxovalerate measurement 04-non-disease +EFO:0021025 erythronate measurement 04-non-disease +EFO:0021026 erythrose measurement 04-non-disease +EFO:0021027 mannitol measurement 04-non-disease +EFO:0021028 1,6-anhydroglucose measurement 04-non-disease +EFO:0021029 glycerate measurement 04-non-disease +EFO:0021030 arabinose measurement 04-non-disease +EFO:0021031 threitol measurement 04-non-disease +EFO:0021032 threonate measurement 04-non-disease +EFO:0021033 biliverdin measurement 04-non-disease +EFO:0021034 pantothenate measurement 04-non-disease +EFO:0021035 acetylphosphate measurement 04-non-disease +EFO:0021036 taurolithocholate 3-sulfate measurement 04-non-disease +EFO:0021037 3-dehydrocarnitine measurement 04-non-disease +EFO:0021038 acetylcarnitine measurement 04-non-disease +EFO:0021039 decanoylcarnitine measurement 04-non-disease +EFO:0021040 hexanoylcarnitine measurement 04-non-disease +EFO:0021041 laurylcarnitine measurement 04-non-disease +EFO:0021042 octanoylcarnitine measurement 04-non-disease +EFO:0021043 oleoylcarnitine measurement 04-non-disease +EFO:0021044 palmitoylcarnitine measurement 04-non-disease +EFO:0021045 stearoylcarnitine measurement 04-non-disease +EFO:0021046 dihomo-linolenate 20:3n3 or n6 measurement 04-non-disease +EFO:0021047 docosahexaenoate DHA; 22:6n3 measurement 04-non-disease +EFO:0021048 docosapentaenoate n3 DPA; 22:5n3 measurement 04-non-disease +EFO:0021049 eicosapentaenoate EPA; 20:5n3 measurement 04-non-disease +EFO:0021050 linolenate [alpha or gamma; 18:3n3 or 6] measurement 04-non-disease +EFO:0021051 isovalerate measurement 04-non-disease +EFO:0021052 15-methylpalmitate isobar with 2-methylpalmitate measurement 04-non-disease +EFO:0021053 3-carboxy-4-methyl-5-propyl-2-furanpropanoate CMPF measurement 04-non-disease +EFO:0021054 dodecanedioate measurement 04-non-disease +EFO:0021055 hexadecanedioate measurement 04-non-disease +EFO:0021056 octadecanedioate measurement 04-non-disease +EFO:0021057 tetradecanedioate measurement 04-non-disease +EFO:0021058 n-Butyl Oleate measurement 04-non-disease +EFO:0021059 2-hydroxystearate measurement 04-non-disease +EFO:0021060 10-heptadecenoate 17:1n7 measurement 04-non-disease +EFO:0021061 10-nonadecenoate 19:1n9 measurement 04-non-disease +EFO:0021062 adrenate 22:4n6 measurement 04-non-disease +EFO:0021063 arachidonate 20:4n6 measurement 04-non-disease +EFO:0021064 dihomo-linoleate 20:2n6 measurement 04-non-disease +EFO:0021065 eicosenoate 20:1n9 or 11 measurement 04-non-disease +EFO:0021066 margarate 17:0 measurement 04-non-disease +EFO:0021067 myristate 14:0 measurement 04-non-disease +EFO:0021068 myristoleate 14:1n5 measurement 04-non-disease +EFO:0021069 nonadecanoate 19:0 measurement 04-non-disease +EFO:0021070 oleate 18:1n9 measurement 04-non-disease +EFO:0021071 palmitate 16:0 measurement 04-non-disease +EFO:0021072 palmitoleate 16:1n7 measurement 04-non-disease +EFO:0021073 pentadecanoate 15:0 measurement 04-non-disease +EFO:0021074 stearate 18:0 measurement 04-non-disease +EFO:0021075 stearidonate 18:4n3 measurement 04-non-disease +EFO:0021076 1-arachidonoylglycerophosphocholine measurement 04-non-disease +EFO:0021077 1-arachidonoylglycerophosphoethanolamine measurement 04-non-disease +EFO:0021078 1-arachidonoylglycerophosphoinositol measurement 04-non-disease +EFO:0021079 1-docosahexaenoylglycerophosphocholine measurement 04-non-disease +EFO:0021080 1-eicosadienoylglycerophosphocholine measurement 04-non-disease +EFO:0021081 1-eicosatrienoylglycerophosphocholine measurement 04-non-disease +EFO:0021082 1-heptadecanoylglycerophosphocholine measurement 04-non-disease +EFO:0021083 1-linoleoylglycerophosphocholine measurement 04-non-disease +EFO:0021084 1-linoleoylglycerophosphoethanolamine measurement 04-non-disease +EFO:0021085 1-myristoylglycerophosphocholine measurement 04-non-disease +EFO:0021086 1-oleoylglycerophosphocholine measurement 04-non-disease +EFO:0021087 1-oleoylglycerophosphoethanolamine measurement 04-non-disease +EFO:0021088 1-palmitoleoylglycerophosphocholine measurement 04-non-disease +EFO:0021089 1-palmitoylglycerophosphocholine measurement 04-non-disease +EFO:0021090 1-palmitoylglycerophosphoethanolamine measurement 04-non-disease +EFO:0021091 1-palmitoylglycerophosphoinositol measurement 04-non-disease +EFO:0021092 1-stearoylglycerophosphocholine measurement 04-non-disease +EFO:0021093 1-stearoylglycerophosphoethanolamine measurement 04-non-disease +EFO:0021094 1-stearoylglycerophosphoinositol measurement 04-non-disease +EFO:0021095 2-linoleoylglycerophosphocholine measurement 04-non-disease +EFO:0021096 2-oleoylglycerophosphocholine measurement 04-non-disease +EFO:0021097 2-palmitoylglycerophosphocholine measurement 04-non-disease +EFO:0021098 2-stearoylglycerophosphocholine measurement 04-non-disease +EFO:0021099 10-undecenoate 11:1n1 measurement 04-non-disease +EFO:0021100 5-dodecenoate 12:1n7 measurement 04-non-disease +EFO:0021101 caprate 10:0 measurement 04-non-disease +EFO:0021102 caproate 6:0 measurement 04-non-disease +EFO:0021103 caprylate 8:0 measurement 04-non-disease +EFO:0021104 heptanoate 7:0 measurement 04-non-disease +EFO:0021105 laurate 12:0 measurement 04-non-disease +EFO:0021106 pelargonate 9:0 measurement 04-non-disease +EFO:0021107 undecanoate 11:0 measurement 04-non-disease +EFO:0021108 1-linoleoylglycerol 1-monolinolein measurement 04-non-disease +EFO:0021109 1-oleoylglycerol 1-monoolein measurement 04-non-disease +EFO:0021110 1-palmitoylglycerol 1-monopalmitin measurement 04-non-disease +EFO:0021111 1-stearoylglycerol 1-monostearin measurement 04-non-disease +EFO:0021112 valerate measurement 04-non-disease +EFO:0021113 4-androsten-3beta,17beta-diol disulfate 1 measurement 04-non-disease +EFO:0021114 4-androsten-3beta,17beta-diol disulfate 2 measurement 04-non-disease +EFO:0021115 5alpha-androstan-3beta,17beta-diol disulfate measurement 04-non-disease +EFO:0021116 7-alpha-hydroxy-3-oxo-4-cholestenoate 7-Hoca measurement 04-non-disease +EFO:0021117 androsterone sulfate measurement 04-non-disease +EFO:0021118 cortisone measurement 04-non-disease +EFO:0021119 dehydroisoandrosterone sulfate DHEA-S measurement 04-non-disease +EFO:0021120 epiandrosterone sulfate measurement 04-non-disease +EFO:0021121 lathosterol measurement 04-non-disease +EFO:0021122 N1-methyladenosine measurement 04-non-disease +EFO:0021123 7-methylguanine measurement 04-non-disease +EFO:0021124 guanosine measurement 04-non-disease +EFO:0021125 N2,N2-dimethylguanosine measurement 04-non-disease +EFO:0021126 pseudouridine measurement 04-non-disease +EFO:0021127 aspartylphenylalanine measurement 04-non-disease +EFO:0021128 cycloleu-pro measurement 04-non-disease +EFO:0021129 glycylvaline measurement 04-non-disease +EFO:0021130 leucylleucine measurement 04-non-disease +EFO:0021131 phenylalanylphenylalanine measurement 04-non-disease +EFO:0021132 pro-hydroxy-pro measurement 04-non-disease +EFO:0021133 pyroglutamylglycine measurement 04-non-disease +EFO:0021134 ADpSGEGDFXAEGGGVR measurement 04-non-disease +EFO:0021135 ADSGEGDFXAEGGGVR measurement 04-non-disease +EFO:0021136 DSGEGDFXAEGGGVR measurement 04-non-disease +EFO:0021137 gamma-glutamylglutamate measurement 04-non-disease +EFO:0021138 gamma-glutamylglutamine measurement 04-non-disease +EFO:0021139 gamma-glutamylisoleucine measurement 04-non-disease +EFO:0021140 gamma-glutamylleucine measurement 04-non-disease +EFO:0021141 gamma-glutamylmethionine measurement 04-non-disease +EFO:0021142 gamma-glutamylphenylalanine measurement 04-non-disease +EFO:0021143 gamma-glutamylthreonine measurement 04-non-disease +EFO:0021144 gamma-glutamyltyrosine measurement 04-non-disease +EFO:0021145 gamma-glutamylvaline measurement 04-non-disease +EFO:0021146 bradykinin, des-arg 9 measurement 04-non-disease +EFO:0021147 HWESASXX measurement 04-non-disease +EFO:0021148 4-ethylphenylsulfate measurement 04-non-disease +EFO:0021149 4-vinylphenol sulfate measurement 04-non-disease +EFO:0021150 benzoate measurement 04-non-disease +EFO:0021151 catechol sulfate measurement 04-non-disease +EFO:0021152 glycerol 2-phosphate measurement 04-non-disease +EFO:0021153 2-hydroxyacetaminophen sulfate measurement 04-non-disease +EFO:0021154 2-methoxyacetaminophen sulfate measurement 04-non-disease +EFO:0021155 3-cystein-S-ylacetaminophen measurement 04-non-disease +EFO:0021156 4-acetaminophen sulfate measurement 04-non-disease +EFO:0021157 hydroquinone sulfate measurement 04-non-disease +EFO:0021158 ibuprofen measurement 04-non-disease +EFO:0021159 metoprolol acid metabolite measurement 04-non-disease +EFO:0021160 p-acetamidophenylglucuronide measurement 04-non-disease +EFO:0021161 salicylate measurement 04-non-disease +EFO:0021162 salicyluric glucuronide measurement 04-non-disease +EFO:0021163 ergothioneine measurement 04-non-disease +EFO:0021164 homostachydrine measurement 04-non-disease +EFO:0021165 N-2-furoylglycine measurement 04-non-disease +EFO:0021166 piperine measurement 04-non-disease +EFO:0021167 quinate measurement 04-non-disease +EFO:0021168 saccharin measurement 04-non-disease +EFO:0021169 stachydrine measurement 04-non-disease +EFO:0021170 thymol sulfate measurement 04-non-disease +EFO:0021171 erythritol measurement 04-non-disease +EFO:0021172 1,3,7-trimethylurate measurement 04-non-disease +EFO:0021173 1-methylurate measurement 04-non-disease +EFO:0021174 1-methylxanthine measurement 04-non-disease +EFO:0021175 3-methylxanthine measurement 04-non-disease +EFO:0021176 7-methylxanthine measurement 04-non-disease +EFO:0021177 caffeine measurement 04-non-disease +EFO:0021178 paraxanthine measurement 04-non-disease +EFO:0021179 theobromine measurement 04-non-disease +EFO:0021180 theophylline measurement 04-non-disease +EFO:0021181 X-01911 measurement 04-non-disease +EFO:0021182 X-02249 measurement 04-non-disease +EFO:0021183 X-02269 measurement 04-non-disease +EFO:0021184 X-02973 measurement 04-non-disease +EFO:0021185 X-03003 measurement 04-non-disease +EFO:0021186 X-03056--N-[3- 2-Oxopyrrolidin-1-yl propyl]acetamide measurement 04-non-disease +EFO:0021187 X-03088 measurement 04-non-disease +EFO:0021188 X-03094 measurement 04-non-disease +EFO:0021189 X-04357 measurement 04-non-disease +EFO:0021190 X-04494 measurement 04-non-disease +EFO:0021191 X-04495 measurement 04-non-disease +EFO:0021192 X-04498 measurement 04-non-disease +EFO:0021193 X-04499--3,4-dihydroxybutyrate measurement 04-non-disease +EFO:0021194 X-04500 measurement 04-non-disease +EFO:0021195 X-05426 measurement 04-non-disease +EFO:0021196 X-05907 measurement 04-non-disease +EFO:0021197 X-06126 measurement 04-non-disease +EFO:0021198 X-06226 measurement 04-non-disease +EFO:0021199 X-06246 measurement 04-non-disease +EFO:0021200 X-06267 measurement 04-non-disease +EFO:0021201 X-06307 measurement 04-non-disease +EFO:0021202 X-06350 measurement 04-non-disease +EFO:0021203 X-06351 measurement 04-non-disease +EFO:0021204 X-07765 measurement 04-non-disease +EFO:0021205 X-08402 measurement 04-non-disease +EFO:0021206 X-08766 measurement 04-non-disease +EFO:0021207 X-08988 measurement 04-non-disease +EFO:0021208 X-09026 measurement 04-non-disease +EFO:0021209 X-09108 measurement 04-non-disease +EFO:0021210 X-09706 measurement 04-non-disease +EFO:0021211 X-09789 measurement 04-non-disease +EFO:0021212 X-10346 measurement 04-non-disease +EFO:0021213 X-10395 measurement 04-non-disease +EFO:0021214 X-10429 measurement 04-non-disease +EFO:0021215 X-10500 measurement 04-non-disease +EFO:0021216 X-10506 measurement 04-non-disease +EFO:0021217 X-10510 measurement 04-non-disease +EFO:0021218 X-10810 measurement 04-non-disease +EFO:0021219 X-11204 measurement 04-non-disease +EFO:0021220 X-11247 measurement 04-non-disease +EFO:0021221 X-11261 measurement 04-non-disease +EFO:0021222 X-11299 measurement 04-non-disease +EFO:0021223 X-11315 measurement 04-non-disease +EFO:0021224 X-11317 measurement 04-non-disease +EFO:0021225 X-11327 measurement 04-non-disease +EFO:0021226 X-11334 measurement 04-non-disease +EFO:0021227 X-11374 measurement 04-non-disease +EFO:0021228 X-11381 measurement 04-non-disease +EFO:0021229 X-11412 measurement 04-non-disease +EFO:0021230 X-11422--xanthine measurement 04-non-disease +EFO:0021231 X-11423--O-sulfo-L-tyrosine measurement 04-non-disease +EFO:0021232 X-11437 measurement 04-non-disease +EFO:0021233 X-11438 measurement 04-non-disease +EFO:0021234 X-11440 measurement 04-non-disease +EFO:0021235 X-11441 measurement 04-non-disease +EFO:0021236 X-11442 measurement 04-non-disease +EFO:0021237 X-11444 measurement 04-non-disease +EFO:0021238 X-11445--5-alpha-pregnan-3beta,20alpha-disulfate measurement 04-non-disease +EFO:0021239 X-11452 measurement 04-non-disease +EFO:0021240 X-11469 measurement 04-non-disease +EFO:0021241 X-11470 measurement 04-non-disease +EFO:0021242 X-11478 measurement 04-non-disease +EFO:0021243 X-11483 measurement 04-non-disease +EFO:0021244 X-11485 measurement 04-non-disease +EFO:0021245 X-11491 measurement 04-non-disease +EFO:0021246 X-11497 measurement 04-non-disease +EFO:0021247 X-11521 measurement 04-non-disease +EFO:0021248 X-11529 measurement 04-non-disease +EFO:0021249 X-11530 measurement 04-non-disease +EFO:0021250 X-11537 measurement 04-non-disease +EFO:0021251 X-11538 measurement 04-non-disease +EFO:0021252 X-11540 measurement 04-non-disease +EFO:0021253 X-11546 measurement 04-non-disease +EFO:0021254 X-11550 measurement 04-non-disease +EFO:0021255 X-11552 measurement 04-non-disease +EFO:0021256 X-11593--O-methylascorbate measurement 04-non-disease +EFO:0021257 X-11786--methylcysteine measurement 04-non-disease +EFO:0021258 X-11787 measurement 04-non-disease +EFO:0021259 X-11792 measurement 04-non-disease +EFO:0021260 X-11793--oxidized bilirubin measurement 04-non-disease +EFO:0021261 X-11795 measurement 04-non-disease +EFO:0021262 X-11799 measurement 04-non-disease +EFO:0021263 X-11805 measurement 04-non-disease +EFO:0021264 X-11818 measurement 04-non-disease +EFO:0021265 X-11820 measurement 04-non-disease +EFO:0021266 X-11843 measurement 04-non-disease +EFO:0021267 X-11845 measurement 04-non-disease +EFO:0021268 X-11847 measurement 04-non-disease +EFO:0021269 X-11849 measurement 04-non-disease +EFO:0021270 X-11850 measurement 04-non-disease +EFO:0021271 X-11852 measurement 04-non-disease +EFO:0021272 X-11858 measurement 04-non-disease +EFO:0021273 X-11859 measurement 04-non-disease +EFO:0021274 X-11876 measurement 04-non-disease +EFO:0021275 X-11905 measurement 04-non-disease +EFO:0021276 X-12007 measurement 04-non-disease +EFO:0021277 X-12013 measurement 04-non-disease +EFO:0021278 X-12029 measurement 04-non-disease +EFO:0021279 X-12038 measurement 04-non-disease +EFO:0021280 X-12039 measurement 04-non-disease +EFO:0021281 X-12040 measurement 04-non-disease +EFO:0021282 X-12056 measurement 04-non-disease +EFO:0021283 X-12063 measurement 04-non-disease +EFO:0021284 X-12092 measurement 04-non-disease +EFO:0021285 X-12093 measurement 04-non-disease +EFO:0021286 X-12094 measurement 04-non-disease +EFO:0021287 X-12095--N1-methyl-3-pyridone-4-carboxamide measurement 04-non-disease +EFO:0021288 X-12100--hydroxytryptophan measurement 04-non-disease +EFO:0021289 X-12116 measurement 04-non-disease +EFO:0021290 X-12188 measurement 04-non-disease +EFO:0021291 X-12189 measurement 04-non-disease +EFO:0021292 X-12206 measurement 04-non-disease +EFO:0021293 X-12212 measurement 04-non-disease +EFO:0021294 X-12216 measurement 04-non-disease +EFO:0021295 X-12217 measurement 04-non-disease +EFO:0021296 X-12230 measurement 04-non-disease +EFO:0021297 X-12231 measurement 04-non-disease +EFO:0021298 X-12236 measurement 04-non-disease +EFO:0021299 X-12244--N-acetylcarnosine measurement 04-non-disease +EFO:0021300 X-12253 measurement 04-non-disease +EFO:0021301 X-12261 measurement 04-non-disease +EFO:0021302 X-12329 measurement 04-non-disease +EFO:0021303 X-12405 measurement 04-non-disease +EFO:0021304 X-12407 measurement 04-non-disease +EFO:0021305 X-12428 measurement 04-non-disease +EFO:0021306 X-12435 measurement 04-non-disease +EFO:0021307 X-12441--12-hydroxyeicosatetraenoate 12-HETE measurement 04-non-disease +EFO:0021308 X12442--5,8-tetradecadienoate measurement 04-non-disease +EFO:0021309 X-12443 measurement 04-non-disease +EFO:0021310 X-12450 measurement 04-non-disease +EFO:0021311 X-12456 measurement 04-non-disease +EFO:0021312 X-12465 measurement 04-non-disease +EFO:0021313 X-12510--2-aminooctanoic acid measurement 04-non-disease +EFO:0021314 X-12524 measurement 04-non-disease +EFO:0021315 X-12544 measurement 04-non-disease +EFO:0021316 X-12556 measurement 04-non-disease +EFO:0021317 X-12627 measurement 04-non-disease +EFO:0021318 X-12644 measurement 04-non-disease +EFO:0021319 X-12645 measurement 04-non-disease +EFO:0021320 X-12680 measurement 04-non-disease +EFO:0021321 X-12696 measurement 04-non-disease +EFO:0021322 X-12704 measurement 04-non-disease +EFO:0021323 X-12712 measurement 04-non-disease +EFO:0021324 X-12717 measurement 04-non-disease +EFO:0021325 X-12719 measurement 04-non-disease +EFO:0021326 X-12726 measurement 04-non-disease +EFO:0021327 X-12728 measurement 04-non-disease +EFO:0021328 X-12729 measurement 04-non-disease +EFO:0021329 X-12734 measurement 04-non-disease +EFO:0021330 X-12740 measurement 04-non-disease +EFO:0021331 X-12749 measurement 04-non-disease +EFO:0021332 X-12771 measurement 04-non-disease +EFO:0021333 X-12776 measurement 04-non-disease +EFO:0021334 X-12786 measurement 04-non-disease +EFO:0021335 X-12798 measurement 04-non-disease +EFO:0021336 X-12816 measurement 04-non-disease +EFO:0021337 X-12830 measurement 04-non-disease +EFO:0021338 X-12833 measurement 04-non-disease +EFO:0021339 X-12844 measurement 04-non-disease +EFO:0021340 X-12847 measurement 04-non-disease +EFO:0021341 X-12850 measurement 04-non-disease +EFO:0021342 X-12851 measurement 04-non-disease +EFO:0021343 X-12855 measurement 04-non-disease +EFO:0021344 X-12990--docosapentaenoic acid n6-DPA measurement 04-non-disease +EFO:0021345 X-13069 measurement 04-non-disease +EFO:0021346 X-13183--stearamide measurement 04-non-disease +EFO:0021347 X-13215 measurement 04-non-disease +EFO:0021348 X-13429 measurement 04-non-disease +EFO:0021349 X-13431--nonanoylcarnitine measurement 04-non-disease +EFO:0021350 X-13435 measurement 04-non-disease +EFO:0021351 X-13477 measurement 04-non-disease +EFO:0021352 X-13496 measurement 04-non-disease +EFO:0021353 X-13548 measurement 04-non-disease +EFO:0021354 X-13549 measurement 04-non-disease +EFO:0021355 X-13553 measurement 04-non-disease +EFO:0021356 X-13619 measurement 04-non-disease +EFO:0021357 X-13658 measurement 04-non-disease +EFO:0021358 X-13671 measurement 04-non-disease +EFO:0021359 X-13741 measurement 04-non-disease +EFO:0021360 X-13859 measurement 04-non-disease +EFO:0021361 X-14056 measurement 04-non-disease +EFO:0021362 X-14057 measurement 04-non-disease +EFO:0021363 X-14086 measurement 04-non-disease +EFO:0021364 X-14189--leucylalanine measurement 04-non-disease +EFO:0021365 X-14205--alpha-glutamyltyrosine measurement 04-non-disease +EFO:0021366 X-14208--phenylalanylserine measurement 04-non-disease +EFO:0021367 X-14304--leucylalanine measurement 04-non-disease +EFO:0021368 X-14374 measurement 04-non-disease +EFO:0021369 X-14450--phenylalanylleucine measurement 04-non-disease +EFO:0021370 X-14473 measurement 04-non-disease +EFO:0021371 X-14541 measurement 04-non-disease +EFO:0021372 X-14588 measurement 04-non-disease +EFO:0021373 X-14625 measurement 04-non-disease +EFO:0021374 X-14626 measurement 04-non-disease +EFO:0021375 X-14632 measurement 04-non-disease +EFO:0021376 X-14658 measurement 04-non-disease +EFO:0021377 X-14662 measurement 04-non-disease +EFO:0021378 X-14745 measurement 04-non-disease +EFO:0021379 X-14977--vanillin measurement 04-non-disease +EFO:0021380 X-18601 measurement 04-non-disease +EFO:0021381 betaine-to-pyroglutamine ratio 04-non-disease +EFO:0021382 N-acetylornithine-to-myo-inositol ratio 04-non-disease +EFO:0021383 X-08402-to-cholesterol ratio 04-non-disease +EFO:0021384 phosphate-to-erythronate ratio 04-non-disease +EFO:0021385 propionylcarnitine-to-isovalerylcarnitine ratio 04-non-disease +EFO:0021386 octanoylcarnitine-to-X-13435 ratio 04-non-disease +EFO:0021387 valine-to-isovalerylcarnitine ratio 04-non-disease +EFO:0021388 X-12038-to-bradykinin, des-arg 9 ratio 04-non-disease +EFO:0021389 docosapentaenoate n3 DPA; 22:5n3-to-X-12627 ratio 04-non-disease +EFO:0021390 lysine-to-glutaroyl carnitine ratio 04-non-disease +EFO:0021391 aspartylphenylalanine-to-X-14450--phenylalanylleucine ratio 04-non-disease +EFO:0021392 X-11820-to-cholesterol ratio 04-non-disease +EFO:0021393 X-11440-to-4-androsten-3beta,17beta-diol disulfate 2 ratio 04-non-disease +EFO:0021394 ADSGEGDFXAEGGGVR-to-ADpSGEGDFXAEGGGVR ratio 04-non-disease +EFO:0021395 DSGEGDFXAEGGGVR-to-ADpSGEGDFXAEGGGVR ratio 04-non-disease +EFO:0021396 indoleacetate-to-N2,N2-dimethylguanosine ratio 04-non-disease +EFO:0021397 arachidonate 20:4n6-to-1-arachidonoylglycerophosphoinositol ratio 04-non-disease +EFO:0021398 X-10510-to-palmitoyl sphingomyelin ratio 04-non-disease +EFO:0021399 X-12095--N1-methyl-3-pyridone-4-carboxamide-to-X-12844 ratio 04-non-disease +EFO:0021400 4-acetamidobutanoate-to-X-03056--N-[3-(2-Oxopyrrolidin-1-yl)propyl]acetamide ratio 04-non-disease +EFO:0021401 ADpSGEGDFXAEGGGVR-to-X-14304--leucylalanine ratio 04-non-disease +EFO:0021402 10-undecenoate 11:1n1-to-X-11438 ratio 04-non-disease +EFO:0021403 carnitine-to-X-12798 ratio 04-non-disease +EFO:0021404 glucose-to-mannose ratio 04-non-disease +EFO:0021405 X-11444-to-X-12844 ratio 04-non-disease +EFO:0021406 isoleucine-to-X-11529 ratio 04-non-disease +EFO:0021407 X-11315-to-pyroglutamine ratio 04-non-disease +EFO:0021408 X-13215-to-X-13671 ratio 04-non-disease +EFO:0021409 urate-to-histidine ratio 04-non-disease +EFO:0021410 hexanoylcarnitine-to-octanoylcarnitine ratio 04-non-disease +EFO:0021411 DHEA-S-to-4-androsten-3beta,17beta-diol disulfate 2 ratio 04-non-disease +EFO:0021412 X-11444-to-X-11470 ratio 04-non-disease +EFO:0021413 androsterone sulfate-to-4-androsten-3beta,17beta-diol disulfate 2 ratio 04-non-disease +EFO:0021414 valine-to-proline ratio 04-non-disease +EFO:0021415 X-04499--3,4-dihydroxybutyrate-to-C-glycosyltryptophan ratio 04-non-disease +EFO:0021416 C-glycosyltryptophan-to-succinylcarnitine ratio 04-non-disease +EFO:0021417 X-12798-to-phenylalanine ratio 04-non-disease +EFO:0021418 4-acetamidobutanoate-to-N1-methyladenosine ratio 04-non-disease +EFO:0021419 myristate 14:0-to-myristoleate 14:1n5 ratio 04-non-disease +EFO:0021420 glutamine-to-histidine ratio 04-non-disease +EFO:0021421 spleen iron measurement 04-non-disease +EFO:0021422 response to piromelatine 04-non-disease +EFO:0021424 response to sevoflurane 04-non-disease +EFO:0021425 pigmentary glaucoma 01-disease-subtype +EFO:0021427 N-acetylmethionine measurement 04-non-disease +EFO:0021428 N6-succinyladenosine measurement 04-non-disease +EFO:0021429 N-acetylarginine measurement 04-non-disease +EFO:0021430 N-acetyl-beta-alanine measurement 04-non-disease +EFO:0021431 adult hypophosphatasia 01-disease-subtype +EFO:0021432 childhood-onset hypophosphatasia 01-disease-subtype +EFO:0021433 congenital chronic kidney disease 01-disease-subtype +EFO:0030082 polygenic risk score 04-non-disease +EFO:0600000 sortilin measurement 04-non-disease +EFO:0600001 ghrelin measurement 04-non-disease +EFO:0600002 retinal layer thickness measurement 04-non-disease +EFO:0600003 vitamin C measurement 04-non-disease +EFO:0600004 retinal nerve fibre layer thickness measurement 04-non-disease +EFO:0600005 ganglion cell inner plexiform layer thickness measurement 04-non-disease +EFO:0600006 human herpesvirus 7 seropositivity 04-non-disease +EFO:0600007 fish oil supplement exposure measurement 04-non-disease +EFO:0600008 mitochondrial heteroplasmy measurement 04-non-disease +EFO:0600009 cardiac ablation 04-non-disease +EFO:0600010 emodin glucuronidation measurement 04-non-disease +EFO:0600011 Parkinson's disease symptom measurement 04-non-disease +EFO:0600012 S100 calcium-binding protein B measurement 04-non-disease +EFO:0600013 response to ropeginterferon alfa-2b 04-non-disease +EFO:0600015 noise exposure measurement 04-non-disease +EFO:0600016 plasma beta-amyloid 1-40:1-42 ratio measurement 04-non-disease +EFO:0600017 response to dolutegravir 04-non-disease +EFO:0600018 trabecular bone score 04-non-disease +EFO:0600019 COVID-19 symptoms measurement 04-non-disease +EFO:0600020 time to remission of COVID-19 symptoms 04-non-disease +EFO:0600021 response to dietary selenium supplementation 04-non-disease +EFO:0600022 response to gamma-aminobutyric acid receptor agonists 04-non-disease +EFO:0600023 response to immune checkpoint inhibitor 04-non-disease +EFO:0600024 response to tofacitinib 04-non-disease +EFO:0600025 aortic vascular smooth muscle cell calcification measurement 04-non-disease +EFO:0600026 aortic vascular smooth muscle cell proliferation measurement 04-non-disease +EFO:0600027 hemoglobin change measurement 04-non-disease +EFO:0600028 N-acylethanolamine measurement 04-non-disease +EFO:0600030 response to antiparasitic agent 04-non-disease +EFO:0600031 response to benznidazole 04-non-disease +EFO:0600032 congenital right-sided heart lesions 02-disease-root +EFO:0600033 response to mitochondrial complex I inhibitor 04-non-disease +EFO:0600034 response to neuromuscular blocker 04-non-disease +EFO:0600035 left atrial volume measurement 04-non-disease +EFO:0600036 muscle fiber cross-sectional area measurement 04-non-disease +EFO:0600037 resistance training 04-non-disease +EFO:0600038 plasma clozapine measurement 04-non-disease +EFO:0600039 plasma N-desmethylclozapine measurement 04-non-disease +EFO:0600040 plasma clozapine-to-N-desmethylclozapine ratio measurement 04-non-disease +EFO:0600041 serum clozapine measurement 04-non-disease +EFO:0600042 serum clozapine-to-N-desmethylclozapine ratio measurement 04-non-disease +EFO:0600043 serum N-desmethylclozapine measurement 04-non-disease +EFO:0600044 kidney volume 04-non-disease +EFO:0600045 pancreas volume 04-non-disease +EFO:0600046 lung volume 04-non-disease +EFO:0600047 spleen volume 04-non-disease +EFO:0600048 liver volume 04-non-disease +EFO:0600049 pancreas fat measurement 04-non-disease +EFO:0600050 plasma leucine rich alpha-2-glycoprotein 1 measurement 04-non-disease +EFO:0600051 response to smoking cessation agent 04-non-disease +EFO:0600052 response to varenicline 04-non-disease +EFO:0600053 complement factor H-related proteins measurement 04-non-disease +EFO:0600054 complement factor H-related protein 1 measurement 04-non-disease +EFO:0600055 complement factor H-related protein 2 measurement 04-non-disease +EFO:0600056 complement factor H-related protein 3 measurement 04-non-disease +EFO:0600057 complement factor H-related protein 4A measurement 04-non-disease +EFO:0600058 blood group 04-non-disease +EFO:0600059 ABO blood group 04-non-disease +EFO:0600060 blood group A 04-non-disease +EFO:0600061 blood group B 04-non-disease +EFO:0600062 blood group AB 04-non-disease +EFO:0600063 blood group O 04-non-disease +EFO:0600064 serum lipopolysaccharide activity 02-disease-root +EFO:0600065 response to tolvaptan 04-non-disease +EFO:0600066 nutritional supplement exposure measurement 04-non-disease +EFO:0600067 mastiha supplement exposure measurement 04-non-disease +EFO:0600068 gene expression measurement 04-non-disease +EFO:0600069 tumor necrosis factor alpha gene expression measurement 04-non-disease +EFO:0600070 interleukin-6 gene expression measurement 04-non-disease +EFO:0600071 blood glutathione peroxidase measurement 04-non-disease +EFO:0600072 human polyomavirus 6 seropositivity 04-non-disease +EFO:0600073 anti-WU polyomavirus antibody measurement 04-non-disease +EFO:0600074 anti-human polyomavirus 6 antibody measurement 04-non-disease +EFO:0600075 response to stimulant therapy 04-non-disease +EFO:0600076 stimulant use measurement 04-non-disease +EFO:0600077 cardiac troponin I change measurement 04-non-disease +EFO:0600078 Achilles tendon injury 04-non-disease +EFO:0600079 glucocorticoid receptor gene expression measurement 04-non-disease +EFO:0600080 response to recombinant tissue-plasminogen activator 04-non-disease +EFO:0600081 time spent outdoors measurement 04-non-disease +EFO:0600082 insulin use measurement 04-non-disease +EFO:0600084 bowel opening frequency 04-non-disease +EFO:0600085 PP interval 04-non-disease +EFO:0600086 appendectomy 04-non-disease +EFO:0600087 narrow occludable anterior chamber angle 04-non-disease +EFO:0600088 lymphocyte:monocyte ratio 04-non-disease +EFO:0600089 peritoneal solute transfer rate 04-non-disease +EFO:0600090 response to peritoneal dialysis 04-non-disease +EFO:0600091 complement factor H-related protein 4 measurement 04-non-disease +EFO:0600092 complement factor H-like 1 protein measurement 04-non-disease +EFO:0600093 response to cosmetics 04-non-disease +EFO:0600094 skin roughness measurement 04-non-disease +EFO:0600095 primary dental caries 01-disease-subtype +EFO:0600096 permanent dental caries 01-disease-subtype +EFO:1000003 Zinc deficiency 04-non-disease +EFO:1000012 Rienhoff syndrome 01-disease-subtype +EFO:1000013 Prinzmetal's angina 01-disease-subtype +EFO:1000014 acidosis 02-disease-root +EFO:1000015 aldosterone-producing adenoma 01-disease-subtype +EFO:1000016 anaplastic lung carcinoma 01-disease-subtype +EFO:1000017 autosomal recessive disease 03-disease-area +EFO:1000018 bladder disease 03-disease-area +EFO:1000019 breast synovial sarcoma 01-disease-subtype +EFO:1000020 cecum adenocarcinoma 01-disease-subtype +EFO:1000021 cecum carcinoma 01-disease-subtype +EFO:1000023 chronic cystitis 01-disease-subtype +EFO:1000024 chronic rhinosinusitis 02-disease-root +EFO:1000025 cystitis 02-disease-root +EFO:1000026 diffuse intrinsic pontine glioma 01-disease-subtype +EFO:1000027 ependymal neoplasm 03-disease-area +EFO:1000028 ependymoma 02-disease-root +EFO:1000029 gastric adenosquamous carcinoma 01-disease-subtype +EFO:1000030 gastric tubular adenocarcinoma 01-disease-subtype +EFO:1000032 granulosa cell tumor 02-disease-root +EFO:1000034 indeterminate colitis 01-disease-subtype +EFO:1000035 infectious colitis 01-disease-subtype +EFO:1000036 lactic acidosis 02-disease-root +EFO:1000037 lung carcinoid tumor 02-disease-root +EFO:1000039 meningeal tuberculosis 01-disease-subtype +EFO:1000040 metaplastic breast carcinoma 01-disease-subtype +EFO:1000041 nephrosclerosis 01-disease-subtype +EFO:1000042 ovarian clear cell adenocarcinoma 01-disease-subtype +EFO:1000043 ovarian serous cystadenocarcinoma 01-disease-subtype +EFO:1000044 pancreatic adenocarcinoma 01-disease-subtype +EFO:1000045 pancreatic neuroendocrine tumor 02-disease-root +EFO:1000046 papillary lung adenocarcinoma 01-disease-subtype +EFO:1000047 pleomorphic breast carcinoma 01-disease-subtype +EFO:1000048 postweaning multisystemic wasting syndrome 04-non-disease +EFO:1000049 pulmonary tuberculosis 02-disease-root +EFO:1000050 renal leiomyoma 01-disease-subtype +EFO:1000051 reproductive system neoplasm 03-disease-area +EFO:1000052 sex cord-stromal tumor 03-disease-area +EFO:1000053 squamous cell breast carcinoma 01-disease-subtype +EFO:1000054 thymic lymphoma 01-disease-subtype +EFO:1000055 tongue squamous cell carcinoma 02-disease-root +EFO:1000057 nasal cavity squamous cell carcinoma 01-disease-subtype +EFO:1000058 nasopharyngeal squamous cell carcinoma 01-disease-subtype +EFO:1000059 cervical artery dissection 02-disease-root +EFO:1000060 intestinal disaccharide deficiency and disaccharide malabsorption 02-disease-root +EFO:1000062 lactose intolerance 02-disease-root +EFO:1000063 lactose intolerance adult type 01-disease-subtype +EFO:1000064 Acinar Prostate Adenocarcinoma, Foamy Gland Variant 01-disease-subtype +EFO:1000065 Acinar Prostate Mucinous Adenocarcinoma 01-disease-subtype +EFO:1000066 ACTH-Producing Pituitary Gland Adenoma 02-disease-root +EFO:1000067 ACTH-Producing Pituitary Gland Carcinoma 01-disease-subtype +EFO:1000068 Acute Leukemia 03-disease-area +EFO:1000069 Adamantinomatous Craniopharyngioma 02-disease-root +EFO:1000070 Adenofibroma 01-disease-subtype +EFO:1000071 Adenoid Cystic Breast Carcinoma 01-disease-subtype +EFO:1000072 Adenomatoid Odontogenic Tumor 01-disease-subtype +EFO:1000073 Adenosquamous Carcinoma 03-disease-area +EFO:1000074 Adrenal Gland Myelolipoma 02-disease-root +EFO:1000075 Adrenal Gland Neuroblastoma 01-disease-subtype +EFO:1000076 Adrenal Medullary Hyperplasia 02-disease-root +EFO:1000077 AIDS-Related Primary Central Nervous System Lymphoma 02-disease-root +EFO:1000078 Ameloblastic Carcinoma 01-disease-subtype +EFO:1000079 Ampulla of Vater Carcinoma 01-disease-subtype +EFO:1000080 Anal Melanoma 01-disease-subtype +EFO:1000081 Anal Squamous Cell Carcinoma 01-disease-subtype +EFO:1000082 Anaplastic (Malignant) Meningioma 01-disease-subtype +EFO:1000083 Anaplastic Large Cell Lymphoma, ALK-Negative 01-disease-subtype +EFO:1000084 Angioleiomyoma 01-disease-subtype +EFO:1000085 Angiolipoma 01-disease-subtype +EFO:1000086 Angiomatous Meningioma 01-disease-subtype +EFO:1000087 Angiomyxoma 02-disease-root +EFO:1000088 Appendix Adenocarcinoma 01-disease-subtype +EFO:1000089 Appendix Adenoma 01-disease-subtype +EFO:1000090 Appendix Goblet Cell Carcinoid 01-disease-subtype +EFO:1000091 Appendix Hyperplastic Polyp 01-disease-subtype +EFO:1000092 Appendix Neuroendocrine Tumor G1 01-disease-subtype +EFO:1000093 Appendix Villous Adenoma 01-disease-subtype +EFO:1000094 Ascending Colon Neuroendocrine Tumor G1 01-disease-subtype +EFO:1000095 Askin Tumor 01-disease-subtype +EFO:1000096 Atrophy 04-non-disease +EFO:1000097 Atypical Carcinoid Tumor 02-disease-root +EFO:1000098 Atypical Endometrial Hyperplasia 02-disease-root +EFO:1000099 Atypical Lipomatous Tumor 02-disease-root +EFO:1000100 Atypical Lobular Breast Hyperplasia 01-disease-subtype +EFO:1000101 Atypical Meningioma 01-disease-subtype +EFO:1000102 B-Cell Prolymphocytic Leukemia 01-disease-subtype +EFO:1000103 Bartholin Gland Carcinoma 01-disease-subtype +EFO:1000104 Bartholin Gland Squamous Cell Carcinoma 01-disease-subtype +EFO:1000105 Basaloid Carcinoma 02-disease-root +EFO:1000106 Benign Adrenal Gland Pheochromocytoma 01-disease-subtype +EFO:1000107 Benign Brain Neoplasm 03-disease-area +EFO:1000108 Benign Carotid Body Paraganglioma 01-disease-subtype +EFO:1000109 Benign Childhood Cerebral Neoplasm 02-disease-root +EFO:1000110 Benign Conjunctival Neoplasm 03-disease-area +EFO:1000111 Benign Kidney Neoplasm 02-disease-root +EFO:1000112 Benign Ovarian Brenner Tumor 02-disease-root +EFO:1000113 Benign Ovarian Endometrioid Tumor 02-disease-root +EFO:1000114 Benign Ovarian Mixed Epithelial Tumor 02-disease-root +EFO:1000115 Benign Ovarian Mucinous Tumor 02-disease-root +EFO:1000116 Benign Ovarian Neoplasm 03-disease-area +EFO:1000117 Benign Ovarian Surface Epithelial-Stromal Tumor 02-disease-root +EFO:1000118 Benign Renal Pelvis Neoplasm 02-disease-root +EFO:1000119 Benign Salivary Gland Myoepithelioma 02-disease-root +EFO:1000120 Benign Skin Appendage Neoplasm 02-disease-root +EFO:1000121 Benign Smooth Muscle Neoplasm 03-disease-area +EFO:1000122 Benign Thyroid Gland Neoplasm 03-disease-area +EFO:1000123 Bile Duct Adenoma 02-disease-root +EFO:1000124 Biphasic Mesothelioma 01-disease-subtype +EFO:1000125 Bladder Adenocarcinoma 01-disease-subtype +EFO:1000126 Bladder Flat Intraepithelial Lesion 02-disease-root +EFO:1000127 Bladder Inflammatory Myofibroblastic Tumor 01-disease-subtype +EFO:1000128 Bladder Paraganglioma 01-disease-subtype +EFO:1000129 Bladder Small Cell Neuroendocrine Carcinoma 02-disease-root +EFO:1000130 Bladder Squamous Cell Carcinoma 01-disease-subtype +EFO:1000131 Blast Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive 01-disease-subtype +EFO:1000132 Bone Epithelioid Hemangioma 02-disease-root +EFO:1000133 Borderline Exocrine Pancreatic Neoplasm 02-disease-root +EFO:1000134 Borderline Fallopian Tube Serous Neoplasm 02-disease-root +EFO:1000135 Borderline Ovarian Brenner Tumor 02-disease-root +EFO:1000136 Borderline Ovarian Clear Cell Tumor 02-disease-root +EFO:1000137 Borderline Ovarian Endometrioid Tumor 02-disease-root +EFO:1000138 Borderline Ovarian Mucinous Tumor 02-disease-root +EFO:1000139 Borderline Ovarian Serous Tumor 01-disease-subtype +EFO:1000140 Borderline Ovarian Surface Epithelial-Stromal Tumor 02-disease-root +EFO:1000141 Brain Stem Glioblastoma 01-disease-subtype +EFO:1000142 Brain Stem Glioma 01-disease-subtype +EFO:1000143 Breast Carcinoma by Gene Expression Profile 01-disease-subtype +EFO:1000144 Breast Diffuse Large B-Cell Lymphoma 01-disease-subtype +EFO:1000145 breast fibrosis 01-disease-subtype +EFO:1000146 Breast Mucosa-Associated Lymphoid Tissue Lymphoma 01-disease-subtype +EFO:1000147 C-Cell Hyperplasia 02-disease-root +EFO:1000148 Calcifying Fibrous Tumor 02-disease-root +EFO:1000149 Calcifying Nested Epithelial Stromal Tumor of the Liver 01-disease-subtype +EFO:1000150 Cardiac Rhabdomyoma 01-disease-subtype +EFO:1000151 Cavernous Hemangioma 01-disease-subtype +EFO:1000152 Cavernous Hemangioma of the Face 01-disease-subtype +EFO:1000154 Cecum Neuroendocrine Tumor G1 01-disease-subtype +EFO:1000155 Cecum Villous Adenoma 01-disease-subtype +EFO:1000156 Central Nervous System Anaplastic Large Cell Lymphoma 01-disease-subtype +EFO:1000157 Central Nervous System Lymphoma 01-disease-subtype +EFO:1000158 Central Nervous System Neoplasm 03-disease-area +EFO:1000159 Cerebellar Liponeurocytoma 01-disease-subtype +EFO:1000160 Cervical Adenoid Basal Carcinoma 02-disease-root +EFO:1000161 Cervical Adenoid Cystic Carcinoma 01-disease-subtype +EFO:1000162 Cervical Adenosquamous Carcinoma 01-disease-subtype +EFO:1000163 Cervical Clear Cell Adenocarcinoma 01-disease-subtype +EFO:1000164 Cervical Endometrioid Adenocarcinoma 01-disease-subtype +EFO:1000165 Cervical Glandular Intraepithelial Neoplasia 02-disease-root +EFO:1000166 Cervical Intraepithelial Neoplasia Grade 2/3 01-disease-subtype +EFO:1000167 Cervical Large Cell Neuroendocrine Carcinoma 01-disease-subtype +EFO:1000168 Cervical Metaplasia 01-disease-subtype +EFO:1000169 Cervical Mucinous Adenocarcinoma, Minimal Deviation Variant 01-disease-subtype +EFO:1000170 Cervical Mucinous Adenocarcinoma, Villoglandular Variant 01-disease-subtype +EFO:1000171 Cervical Small Cell Carcinoma 02-disease-root +EFO:1000172 cervical squamous cell carcinoma 02-disease-root +EFO:1000173 Cervical Wilms Tumor 01-disease-subtype +EFO:1000174 Chondroid Chordoma 01-disease-subtype +EFO:1000175 Chondroid Hamartoma 02-disease-root +EFO:1000176 Chordoid Meningioma 01-disease-subtype +EFO:1000177 Choroid Plexus Papilloma 02-disease-root +EFO:1000178 Chronic Eosinophilic Leukemia, Not Otherwise Specified 02-disease-root +EFO:1000179 Chronic Neutrophilic Leukemia 01-disease-subtype +EFO:1000180 Clear Cell Meningioma 01-disease-subtype +EFO:1000181 Clear Cell Papillary Cystadenoma 01-disease-subtype +EFO:1000182 Colon Burkitt Lymphoma 01-disease-subtype +EFO:1000183 Colon Dysplasia 02-disease-root +EFO:1000184 Colon Inflammatory Polyp 02-disease-root +EFO:1000185 Colon Juvenile Polyp 01-disease-subtype +EFO:1000186 Colon Mucosa-Associated Lymphoid Tissue Lymphoma 01-disease-subtype +EFO:1000188 Colon Neuroendocrine Tumor G1 01-disease-subtype +EFO:1000189 Colon Sessile Serrated Adenoma/Polyp 01-disease-subtype +EFO:1000190 Colorectal Adenosquamous Carcinoma 01-disease-subtype +EFO:1000191 Colorectal Diffuse Large B-Cell Lymphoma 01-disease-subtype +EFO:1000192 Colorectal Gastrointestinal Stromal Tumor 02-disease-root +EFO:1000193 Colorectal Hamartoma 01-disease-subtype +EFO:1000194 Colorectal Juvenile Polyp 01-disease-subtype +EFO:1000195 Colorectal Neuroendocrine Tumor G1 01-disease-subtype +EFO:1000196 Colorectal Serrated Adenocarcinoma 01-disease-subtype +EFO:1000197 Colorectal Sessile Serrated Adenoma/Polyp 01-disease-subtype +EFO:1000198 Colorectal Squamous Cell Carcinoma 01-disease-subtype +EFO:1000199 Columnar Cell Hyperplasia of the Breast 02-disease-root +EFO:1000200 Combined Lung Carcinoma 01-disease-subtype +EFO:1000201 Common Hematopoietic Neoplasm 02-disease-root +EFO:1000202 Complex Endometrial Hyperplasia 01-disease-subtype +EFO:1000203 Conjunctival Disorder 02-disease-root +EFO:1000204 Conjunctival Melanoma 01-disease-subtype +EFO:1000205 Conjunctival Nevus 02-disease-root +EFO:1000206 Conjunctival Squamous Cell Carcinoma 01-disease-subtype +EFO:1000208 Cortisol-Producing Adrenal Cortex Adenoma 01-disease-subtype +EFO:1000209 Craniopharyngioma 02-disease-root +EFO:1000210 Cribriform Carcinoma 02-disease-root +EFO:1000211 Cutaneous Follicular Lymphoma 02-disease-root +EFO:1000212 Cutaneous Undifferentiated Pleomorphic Sarcoma 01-disease-subtype +EFO:1000213 Cystic Nephroma 02-disease-root +EFO:1000214 Dedifferentiated Solitary Fibrous Tumor 01-disease-subtype +EFO:1000215 Desmoplastic Ameloblastoma 01-disease-subtype +EFO:1000216 Diffuse Melanocytosis 02-disease-root +EFO:1000217 Digestive System Adenoma 03-disease-area +EFO:1000218 Digestive System Carcinoma 03-disease-area +EFO:1000219 Digestive System Mixed Adenoneuroendocrine Carcinoma 02-disease-root +EFO:1000220 Disseminated Peritoneal Leiomyomatosis 01-disease-subtype +EFO:1000221 Ductal Breast Carcinoma In Situ and Lobular Carcinoma In Situ 01-disease-subtype +EFO:1000222 Ductal or Ductular Proliferation 02-disease-root +EFO:1000223 Duodenal Adenocarcinoma 01-disease-subtype +EFO:1000224 Duodenal Gastrin-Producing Neuroendocrine Tumor 02-disease-root +EFO:1000225 Duodenal Villous Adenoma 01-disease-subtype +EFO:1000226 Dysplasia in Ulcerative Colitis 02-disease-root +EFO:1000227 Dysplasia of Larynx 02-disease-root +EFO:1000228 EBV-Positive T-Cell Lymphoproliferative Disorder of Childhood 02-disease-root +EFO:1000229 Eccrine Porocarcinoma 01-disease-subtype +EFO:1000230 Endolymphatic Sac Tumor 02-disease-root +EFO:1000231 Endometrial Clear Cell Adenocarcinoma 01-disease-subtype +EFO:1000232 Endometrial Cyst 02-disease-root +EFO:1000233 Endometrial Endometrioid Adenocarcinoma 01-disease-subtype +EFO:1000234 Endometrial Hyperplasia without Atypia 01-disease-subtype +EFO:1000235 Endometrial Intraepithelial Neoplasia 02-disease-root +EFO:1000236 Endometrial Mucinous Adenocarcinoma 01-disease-subtype +EFO:1000237 Endometrial Polyp 01-disease-subtype +EFO:1000238 Endometrial Serous Adenocarcinoma 02-disease-root +EFO:1000239 Endometrial Small Cell Carcinoma 01-disease-subtype +EFO:1000240 Endometrial Squamous Cell Carcinoma 01-disease-subtype +EFO:1000241 Endometrial Stromal Nodule 02-disease-root +EFO:1000242 Endometrial Undifferentiated Carcinoma 01-disease-subtype +EFO:1000243 Epidermal Inclusion Cyst 02-disease-root +EFO:1000244 Epithelioid Cell Uveal Melanoma 01-disease-subtype +EFO:1000245 Epithelioid Malignant Peripheral Nerve Sheath Tumor 01-disease-subtype +EFO:1000246 Ethmoid Sinus Adenoid Cystic Carcinoma 01-disease-subtype +EFO:1000247 Extrahepatic Bile Duct Adenosquamous Carcinoma 01-disease-subtype +EFO:1000248 Extrahepatic Bile Duct Squamous Cell Carcinoma 01-disease-subtype +EFO:1000249 Extramammary Paget Disease 01-disease-subtype +EFO:1000250 Extraskeletal Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor 01-disease-subtype +EFO:1000251 Fallopian Tube Carcinoma 01-disease-subtype +EFO:1000252 Fallopian Tube Carcinosarcoma 01-disease-subtype +EFO:1000253 Fallopian Tube Serous Adenocarcinoma 01-disease-subtype +EFO:1000254 Fibroadenoma 02-disease-root +EFO:1000255 Fibroblastic Neoplasm 03-disease-area +EFO:1000256 Fibrolamellar Carcinoma 01-disease-subtype +EFO:1000257 Fibrous Hamartoma of Infancy 01-disease-subtype +EFO:1000258 Fibrous Meningioma 01-disease-subtype +EFO:1000259 Flat Urothelial Hyperplasia 01-disease-subtype +EFO:1000260 Floor of Mouth Mucoepidermoid Carcinoma 01-disease-subtype +EFO:1000261 Follicular Variant Thyroid Gland Papillary Carcinoma 02-disease-root +EFO:1000262 Gallbladder Adenocarcinoma 01-disease-subtype +EFO:1000263 Gallbladder Adenoma 01-disease-subtype +EFO:1000264 Gallbladder Adenosquamous Carcinoma 01-disease-subtype +EFO:1000265 Gallbladder Biliary Intraepithelial Neoplasia 02-disease-root +EFO:1000266 Gallbladder Small Cell Neuroendocrine Carcinoma 01-disease-subtype +EFO:1000267 Gallbladder Squamous Cell Carcinoma 01-disease-subtype +EFO:1000268 Gastric Adenoma 01-disease-subtype +EFO:1000269 Gastric Choriocarcinoma 01-disease-subtype +EFO:1000270 Gastric Diffuse Large B-Cell Lymphoma 01-disease-subtype +EFO:1000271 Gastric Hamartomatous Polyp 01-disease-subtype +EFO:1000272 Gastric Mantle Cell Lymphoma 01-disease-subtype +EFO:1000273 Gastric Metaplasia 02-disease-root +EFO:1000274 Gastric Mucosa-Associated Lymphoid Tissue Lymphoma 01-disease-subtype +EFO:1000275 Gastric Neuroendocrine Tumor G1 01-disease-subtype +EFO:1000276 Gastric Papillary Adenocarcinoma 01-disease-subtype +EFO:1000277 Gastric Small Cell Neuroendocrine Carcinoma 01-disease-subtype +EFO:1000278 Gastric Squamous Cell Carcinoma 01-disease-subtype +EFO:1000280 Gastrointestinal Hamartoma 01-disease-subtype +EFO:1000281 Giant Cell Tumor of Soft Tissue 01-disease-subtype +EFO:1000282 Gonadal Teratoma 02-disease-root +EFO:1000283 Grade III Prostatic Intraepithelial Neoplasia 01-disease-subtype +EFO:1000284 Granular Cell Tumor 02-disease-root +EFO:1000285 Granular Cell Tumor of the Neurohypophysis 01-disease-subtype +EFO:1000286 Granulocytic Sarcoma 01-disease-subtype +EFO:1000287 Growth Hormone-Producing Pituitary Gland Adenoma 02-disease-root +EFO:1000288 Head and Neck Paraganglioma 03-disease-area +EFO:1000289 Hemangiopericytic Neoplasm 03-disease-area +EFO:1000291 Hepatic Granuloma 02-disease-root +EFO:1000292 Hepatoblastoma 01-disease-subtype +EFO:1000293 Hepatoid Adenocarcinoma 01-disease-subtype +EFO:1000294 HER2 Positive Breast Carcinoma 01-disease-subtype +EFO:1000295 Hidradenocarcinoma 02-disease-root +EFO:1000296 High Grade Surface Osteosarcoma 01-disease-subtype +EFO:1000297 Histiocytic and Dendritic Cell Neoplasm 03-disease-area +EFO:1000298 Hydatidiform Mole 02-disease-root +EFO:1000299 Hyperplastic Polyp 02-disease-root +EFO:1000300 Ileal Neuroendocrine Tumor G1 01-disease-subtype +EFO:1000301 Inclusion Body Fibromatosis 01-disease-subtype +EFO:1000302 Infiltrating Bladder Lymphoepithelioma-Like Carcinoma 01-disease-subtype +EFO:1000303 Infiltrating Bladder Urothelial Carcinoma Sarcomatoid Variant 01-disease-subtype +EFO:1000304 Intestinal Type Adenocarcinoma 02-disease-root +EFO:1000305 Intimal Sarcoma 01-disease-subtype +EFO:1000306 Intraductal Breast Papilloma 02-disease-root +EFO:1000307 Invasive Breast Carcinoma 01-disease-subtype +EFO:1000308 Jejunal Neuroendocrine Tumor G1 01-disease-subtype +EFO:1000309 Juvenile Myelomonocytic Leukemia 01-disease-subtype +EFO:1000310 Juvenile Polyp 01-disease-subtype +EFO:1000311 Juvenile Xanthogranuloma 01-disease-subtype +EFO:1000312 Kidney Angiomyolipoma 02-disease-root +EFO:1000313 Kidney Cyst 02-disease-root +EFO:1000314 Kidney Medullary Carcinoma 01-disease-subtype +EFO:1000315 Kidney Oncocytoma 02-disease-root +EFO:1000316 Krukenberg Tumor 01-disease-subtype +EFO:1000317 Lacrimal Gland Adenoid Cystic Carcinoma 01-disease-subtype +EFO:1000318 Langerhans Cell Histiocytosis 01-disease-subtype +EFO:1000319 Laryngeal Adenoid Cystic Carcinoma 01-disease-subtype +EFO:1000320 Laryngeal Small Cell Carcinoma 01-disease-subtype +EFO:1000321 Leydig Cell Tumor 02-disease-root +EFO:1000322 Liver Cavernous Hemangioma 02-disease-root +EFO:1000323 Liver Diffuse Large B-Cell Lymphoma 01-disease-subtype +EFO:1000324 Liver Inflammatory Myofibroblastic Tumor 02-disease-root +EFO:1000325 Liver Neuroendocrine Tumor 02-disease-root +EFO:1000326 Lobular Breast Carcinoma In Situ 01-disease-subtype +EFO:1000327 Low Grade Central Osteosarcoma 01-disease-subtype +EFO:1000328 Low Grade Fibromyxoid Sarcoma 01-disease-subtype +EFO:1000329 Low Grade Fibromyxoid Sarcoma with Giant Collagen Rosettes 01-disease-subtype +EFO:1000330 Low Grade Vulvar Intraepithelial Neoplasia 01-disease-subtype +EFO:1000332 Lung Giant Cell Carcinoma 01-disease-subtype +EFO:1000333 Lung Inflammatory Myofibroblastic Tumor 01-disease-subtype +EFO:1000334 Lung Lymphangioleiomyomatosis 01-disease-subtype +EFO:1000335 Lung Papilloma 01-disease-subtype +EFO:1000336 Lung Sarcomatoid Carcinoma 01-disease-subtype +EFO:1000337 Lung Sclerosing Hemangioma 01-disease-subtype +EFO:1000338 Lung Signet Ring Cell Carcinoma 01-disease-subtype +EFO:1000339 Lymphangiosarcoma 02-disease-root +EFO:1000340 Lymphoepithelioma-Like Lung Carcinoma 01-disease-subtype +EFO:1000341 Lymphomatoid Papulosis 02-disease-root +EFO:1000342 Lymphoplasmacyte-Rich Meningioma 01-disease-subtype +EFO:1000344 Major Salivary Gland Carcinoma 01-disease-subtype +EFO:1000345 Major Salivary Gland Carcinoma ex Pleomorphic Adenoma 01-disease-subtype +EFO:1000346 Major Salivary Gland Mucoepidermoid Carcinoma 01-disease-subtype +EFO:1000347 Malignancy in Giant Cell Tumor of Bone 01-disease-subtype +EFO:1000348 Malignant Adrenal Gland Pheochromocytoma 01-disease-subtype +EFO:1000349 Malignant Bladder Paraganglioma 01-disease-subtype +EFO:1000350 Malignant Bone Neoplasm 03-disease-area +EFO:1000352 Malignant Germ Cell Tumor 03-disease-area +EFO:1000353 Malignant Jugulotympanic Paraganglioma 01-disease-subtype +EFO:1000354 Malignant Laryngeal Neoplasm 03-disease-area +EFO:1000355 Malignant Mesothelioma 02-disease-root +EFO:1000356 Malignant Mixed Neoplasm 03-disease-area +EFO:1000357 Malignant Ovarian Brenner Tumor 02-disease-root +EFO:1000358 Malignant Ovarian Mixed Epithelial Tumor 02-disease-root +EFO:1000359 Malignant Pancreatic Neoplasm 03-disease-area +EFO:1000360 Malignant Paraganglioma 02-disease-root +EFO:1000361 Malignant Peripheral Nerve Sheath Tumor with Mesenchymal Differentiation 01-disease-subtype +EFO:1000362 Malignant Pleural Neoplasm 03-disease-area +EFO:1000363 Malignant Urinary System Neoplasm 03-disease-area +EFO:1000364 Mast Cell Sarcoma 02-disease-root +EFO:1000365 Maxillary Sinus Adenoid Cystic Carcinoma 01-disease-subtype +EFO:1000366 Mediastinal Malignant Germ Cell Tumor 01-disease-subtype +EFO:1000367 Mediastinal Neuroblastoma 01-disease-subtype +EFO:1000368 Medullomyoblastoma with Myogenic Differentiation 01-disease-subtype +EFO:1000369 Melanocytoma of the Eyeball 02-disease-root +EFO:1000370 Meningeal Melanocytoma 01-disease-subtype +EFO:1000371 Meningioangiomatosis 02-disease-root +EFO:1000372 Meningothelial Meningioma 01-disease-subtype +EFO:1000373 Metanephric Adenoma 01-disease-subtype +EFO:1000375 Metaplastic Meningioma 01-disease-subtype +EFO:1000376 Microcystic Meningioma 01-disease-subtype +EFO:1000377 Micropapillary Serous Carcinoma 02-disease-root +EFO:1000378 Middle Ear Squamous Cell Carcinoma 01-disease-subtype +EFO:1000379 Minor Salivary Gland Adenocarcinoma 01-disease-subtype +EFO:1000380 Mixed Cell Uveal Melanoma 01-disease-subtype +EFO:1000381 Mixed Epithelial Stromal Tumor of the Kidney 02-disease-root +EFO:1000382 Mixed Lobular and Ductal Breast Carcinoma 01-disease-subtype +EFO:1000383 Mixed Somatotroph-Lactotroph Pituitary Gland Adenoma 02-disease-root +EFO:1000384 Mixed Tumor of the Salivary Gland 03-disease-area +EFO:1000385 Mixed Tumor of the Skin 02-disease-root +EFO:1000386 Mucinous Gastric Adenocarcinoma 01-disease-subtype +EFO:1000388 Myelodysplastic/Myeloproliferative Neoplasm 03-disease-area +EFO:1000389 Myofibroma 01-disease-subtype +EFO:1000390 Nabothian Cyst 02-disease-root +EFO:1000391 Nasal Cavity Polyp 02-disease-root +EFO:1000392 Neoplastic Medium-Sized B-Lymphocyte with Basophilic Cytoplasm 02-disease-root +EFO:1000393 Neuroblastic Tumor 03-disease-area +EFO:1000394 Neurothekeoma 02-disease-root +EFO:1000395 Nevus of Ito 02-disease-root +EFO:1000396 Nevus of Ota 02-disease-root +EFO:1000397 Non-Cutaneous Melanoma 01-disease-subtype +EFO:1000398 Non-Functional Pancreatic Neuroendocrine Tumor 02-disease-root +EFO:1000399 Non-Functioning Adrenal Cortex Adenoma 01-disease-subtype +EFO:1000400 Non-Neoplastic Bile Duct Disorder 03-disease-area +EFO:1000401 Non-Seminomatous Lesion 02-disease-root +EFO:1000402 Normal Breast-Like Subtype of Breast Carcinoma 01-disease-subtype +EFO:1000403 Ocular Melanoma 01-disease-subtype +EFO:1000404 Ocular Melanoma with Extraocular Extension 01-disease-subtype +EFO:1000405 Ocular Sebaceous Carcinoma 01-disease-subtype +EFO:1000406 Odontogenic Cyst 02-disease-root +EFO:1000407 Olfactory Neuroblastoma 01-disease-subtype +EFO:1000408 Ossifying Fibromyxoid Tumor 01-disease-subtype +EFO:1000409 Ossifying Renal Tumor of Infancy 02-disease-root +EFO:1000410 Osteoblastoma 02-disease-root +EFO:1000411 Osteochondroma 02-disease-root +EFO:1000412 Ovarian Carcinosarcoma 01-disease-subtype +EFO:1000413 Ovarian Choriocarcinoma 01-disease-subtype +EFO:1000414 Ovarian Dysgerminoma 01-disease-subtype +EFO:1000415 Ovarian Embryonal Carcinoma 01-disease-subtype +EFO:1000416 Ovarian Endometrioid Adenocarcinoma 01-disease-subtype +EFO:1000417 Ovarian Endometrioid Adenocarcinoma with Squamous Differentiation 01-disease-subtype +EFO:1000418 Ovarian Endometriosis 01-disease-subtype +EFO:1000419 Ovarian Germ Cell Tumor 01-disease-subtype +EFO:1000420 Ovarian Gonadoblastoma 02-disease-root +EFO:1000421 Ovarian Granulosa Cell Tumor 02-disease-root +EFO:1000422 Ovarian Gynandroblastoma 02-disease-root +EFO:1000423 Ovarian Leydig Cell Tumor 02-disease-root +EFO:1000424 Ovarian Microcystic Stromal Tumor 01-disease-subtype +EFO:1000425 Ovarian Mixed Epithelial Tumor 02-disease-root +EFO:1000426 Ovarian Sclerosing Stromal Tumor 02-disease-root +EFO:1000427 Ovarian Serous Adenocarcinofibroma 02-disease-root +EFO:1000428 Ovarian Serous Adenofibroma 01-disease-subtype +EFO:1000429 Ovarian Sertoli-Leydig Cell Tumor 02-disease-root +EFO:1000430 Ovarian Sex Cord Tumor with Annular Tubules 02-disease-root +EFO:1000431 Ovarian Small Cell Carcinoma 01-disease-subtype +EFO:1000432 Ovarian Squamous Cell Carcinoma 01-disease-subtype +EFO:1000433 Ovarian Steroid Cell Tumor 02-disease-root +EFO:1000434 Ovarian Stromal Luteoma 02-disease-root +EFO:1000435 Ovarian Transitional Cell Carcinoma 01-disease-subtype +EFO:1000436 Ovarian Tumor of the Thecoma/Fibroma Group 02-disease-root +EFO:1000437 Ovarian Yolk Sac Tumor 01-disease-subtype +EFO:1000438 Palmar Fibromatosis 01-disease-subtype +EFO:1000439 Pancreatic Acinar Cell Carcinoma 01-disease-subtype +EFO:1000440 Pancreatic Gastrinoma 02-disease-root +EFO:1000441 Pancreatic Glucagonoma 02-disease-root +EFO:1000442 Pancreatic Large Cell Neuroendocrine Carcinoma 01-disease-subtype +EFO:1000443 Pancreatic Precancerous Condition 02-disease-root +EFO:1000444 Pancreatic Small Cell Neuroendocrine Carcinoma 01-disease-subtype +EFO:1000445 Pancreatic Vipoma 02-disease-root +EFO:1000446 Pancreatoblastoma 02-disease-root +EFO:1000447 Papillary Craniopharyngioma 02-disease-root +EFO:1000448 Papillary Cystic Neoplasm 03-disease-area +EFO:1000449 Papillary Meningioma 01-disease-subtype +EFO:1000450 Papillary Transitional Cell Carcinoma 02-disease-root +EFO:1000451 Papillary Tumor of the Pineal Region 02-disease-root +EFO:1000452 Parachordoma 02-disease-root +EFO:1000453 Paraganglioma 02-disease-root +EFO:1000454 Paranasal Sinus Adenoid Cystic Carcinoma 01-disease-subtype +EFO:1000455 Paranasal Sinus Schneiderian Papilloma 01-disease-subtype +EFO:1000456 Parathyroid Gland Carcinoma 01-disease-subtype +EFO:1000457 Parathyroid Hyperplasia 02-disease-root +EFO:1000458 Parotid Gland Acinic Cell Carcinoma 01-disease-subtype +EFO:1000459 Parotid Gland Adenoid Cystic Carcinoma 01-disease-subtype +EFO:1000460 Parotid Gland Carcinoma 01-disease-subtype +EFO:1000461 Parotid Gland Carcinoma ex Pleomorphic Adenoma 01-disease-subtype +EFO:1000462 Parotid Gland Pleomorphic Adenoma 02-disease-root +EFO:1000463 Parotid Gland Squamous Cell Carcinoma 01-disease-subtype +EFO:1000464 PEComa 02-disease-root +EFO:1000465 Penile Carcinoma 01-disease-subtype +EFO:1000466 Penile Fibromatosis 01-disease-subtype +EFO:1000467 Peritoneal Mesothelioma 01-disease-subtype +EFO:1000468 Peritoneal Multicystic Mesothelioma 01-disease-subtype +EFO:1000469 Peritoneal Well Differentiated Papillary Mesothelioma 01-disease-subtype +EFO:1000470 Peutz-Jeghers Polyp 01-disease-subtype +EFO:1000471 Peutz-Jeghers Polyp of the Stomach 01-disease-subtype +EFO:1000472 Pharyngeal Adenoid Cystic Carcinoma 01-disease-subtype +EFO:1000473 Phosphaturic Mesenchymal Tumor 02-disease-root +EFO:1000474 Pineal Parenchymal Tumor of Intermediate Differentiation 02-disease-root +EFO:1000475 Pineoblastoma 01-disease-subtype +EFO:1000476 Pineocytoma 01-disease-subtype +EFO:1000477 Pituicytoma 01-disease-subtype +EFO:1000478 Pituitary Gland Adenoma 03-disease-area +EFO:1000479 Placental Choriocarcinoma 01-disease-subtype +EFO:1000480 Placental Hemangioma 01-disease-subtype +EFO:1000481 Plantar Fibromatosis 01-disease-subtype +EFO:1000483 Pleural Biphasic Mesothelioma 01-disease-subtype +EFO:1000484 Pleural Epithelioid Mesothelioma 01-disease-subtype +EFO:1000485 Pleural Mesothelioma 01-disease-subtype +EFO:1000486 Pleural Sarcomatoid Mesothelioma 01-disease-subtype +EFO:1000487 Plexiform Ameloblastoma 01-disease-subtype +EFO:1000488 Polar Spongioblastoma 01-disease-subtype +EFO:1000489 Poorly Differentiated Thyroid Gland Carcinoma 02-disease-root +EFO:1000490 Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type 01-disease-subtype +EFO:1000491 Primary Effusion Lymphoma 01-disease-subtype +EFO:1000492 Primary Intraosseous Squamous Cell Carcinoma 01-disease-subtype +EFO:1000493 Primary Melanocytic Lesion of Meninges 01-disease-subtype +EFO:1000494 Primary Peritoneal Serous Adenocarcinoma 01-disease-subtype +EFO:1000495 Primary Pulmonary Diffuse Large B-Cell Lymphoma 01-disease-subtype +EFO:1000496 Prolactin-Producing Pituitary Gland Adenoma 01-disease-subtype +EFO:1000497 Prolactin-Producing Pituitary Gland Carcinoma 01-disease-subtype +EFO:1000498 Prostate Rhabdomyosarcoma 01-disease-subtype +EFO:1000499 Prostate Small Cell Carcinoma 01-disease-subtype +EFO:1000500 Psammomatous Meningioma 01-disease-subtype +EFO:1000501 Pyloric Gland Adenoma 01-disease-subtype +EFO:1000502 Rectal Hyperplastic Polyp 02-disease-root +EFO:1000503 Rectal Traditional Serrated Adenoma 01-disease-subtype +EFO:1000504 Rectal Tubular Adenoma 01-disease-subtype +EFO:1000505 Rectal Tubulovillous Adenoma 01-disease-subtype +EFO:1000506 Rectal Villous Adenoma 01-disease-subtype +EFO:1000507 Renal Angiomyoadenomatous Tumor 02-disease-root +EFO:1000508 Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions 02-disease-root +EFO:1000509 Retinal Neoplasm 03-disease-area +EFO:1000510 Retroperitoneal Inflammatory Myofibroblastic Tumor 01-disease-subtype +EFO:1000511 Rhabdoid Meningioma 01-disease-subtype +EFO:1000512 Rhabdoid Tumor of the Kidney 01-disease-subtype +EFO:1000513 Salivary Gland Acinic Cell Carcinoma 02-disease-root +EFO:1000514 Salivary Gland Adenosquamous Carcinoma 01-disease-subtype +EFO:1000515 Salivary Gland Basal Cell Adenocarcinoma 01-disease-subtype +EFO:1000516 Salivary Gland Carcinoma ex Pleomorphic Adenoma 01-disease-subtype +EFO:1000517 Salivary Gland Large Cell Carcinoma 01-disease-subtype +EFO:1000518 Salivary Gland Pleomorphic Adenoma 02-disease-root +EFO:1000519 Salivary Gland Small Cell Carcinoma 01-disease-subtype +EFO:1000520 Sarcomatoid Carcinoma 01-disease-subtype +EFO:1000521 Sarcomatoid Mesothelioma 01-disease-subtype +EFO:1000522 Secretory Meningioma 01-disease-subtype +EFO:1000523 Sex Hormone-Producing Adrenal Cortex Adenoma 01-disease-subtype +EFO:1000524 Signet Ring Cell Gastric Adenocarcinoma 01-disease-subtype +EFO:1000525 Simple Endometrial Hyperplasia 01-disease-subtype +EFO:1000526 Simple Endometrial Hyperplasia with Atypia 02-disease-root +EFO:1000527 Sinonasal Undifferentiated Carcinoma 01-disease-subtype +EFO:1000529 Skin Basosquamous Cell Carcinoma 01-disease-subtype +EFO:1000530 Skin Cavernous Hemangioma 02-disease-root +EFO:1000531 Skin Sarcoma 01-disease-subtype +EFO:1000532 small intestinal adenocarcinoma 01-disease-subtype +EFO:1000533 Small Intestinal Burkitt Lymphoma 01-disease-subtype +EFO:1000534 Small Intestinal Diffuse Large B-Cell Lymphoma 01-disease-subtype +EFO:1000535 Small Intestinal Enteropathy-Associated T-Cell Lymphoma 01-disease-subtype +EFO:1000536 Small Intestinal Intraepithelial Neoplasia 01-disease-subtype +EFO:1000537 Small Intestinal Mucosa-Associated Lymphoid Tissue Lymphoma 01-disease-subtype +EFO:1000538 Small Intestinal Tubular Adenoma 01-disease-subtype +EFO:1000539 Small Intestinal Tubulovillous Adenoma 01-disease-subtype +EFO:1000540 Soft Tissue Chondroma 01-disease-subtype +EFO:1000541 Soft Tissue Neoplasm 03-disease-area +EFO:1000542 Solid Pseudopapillary Neoplasm of the Pancreas 02-disease-root +EFO:1000543 Spinal Chordoma 01-disease-subtype +EFO:1000544 Spinal Cord Astrocytoma 01-disease-subtype +EFO:1000545 Spinal Cord Primitive Neuroectodermal Tumor 01-disease-subtype +EFO:1000546 Spindle Cell Melanoma 01-disease-subtype +EFO:1000547 Splenic Diffuse Large B-Cell Lymphoma 01-disease-subtype +EFO:1000548 Splenic Hodgkin Lymphoma 01-disease-subtype +EFO:1000549 Splenic Mantle Cell Lymphoma 01-disease-subtype +EFO:1000550 Splenic Marginal Zone Lymphoma 01-disease-subtype +EFO:1000551 Stromal Predominant Kidney Wilms Tumor 01-disease-subtype +EFO:1000552 Subcutaneous Panniculitis-Like T-Cell Lymphoma 01-disease-subtype +EFO:1000553 Subependymoma 01-disease-subtype +EFO:1000554 Submandibular Gland Adenocarcinoma 01-disease-subtype +EFO:1000555 Submandibular Gland Adenoid Cystic Carcinoma 01-disease-subtype +EFO:1000556 Superficial Fibromatosis 01-disease-subtype +EFO:1000557 Synovial Chondromatosis 02-disease-root +EFO:1000558 Syringocystadenoma Papilliferum 01-disease-subtype +EFO:1000559 Systemic Mastocytosis with Associated Clonal Hematological non-Mast-Cell Lineage Disease 01-disease-subtype +EFO:1000560 T-Cell Prolymphocytic Leukemia 01-disease-subtype +EFO:1000561 Tendon Sheath Fibroma 01-disease-subtype +EFO:1000562 Tenosynovial Giant Cell Tumor 01-disease-subtype +EFO:1000563 Teratoma with Malignant Transformation 02-disease-root +EFO:1000564 Testicular Choriocarcinoma 01-disease-subtype +EFO:1000565 Testicular Embryonal Carcinoma 01-disease-subtype +EFO:1000566 Testicular Germ Cell Tumor 01-disease-subtype +EFO:1000567 Testicular Granulosa Cell Tumor 02-disease-root +EFO:1000568 Testicular Large Cell Calcifying Sertoli Cell Tumor 02-disease-root +EFO:1000569 Testicular Leydig Cell Tumor 02-disease-root +EFO:1000570 Testicular Non-Seminomatous Germ Cell Tumor 01-disease-subtype +EFO:1000571 Testicular Sclerosing Sertoli Cell Tumor 02-disease-root +EFO:1000572 Testicular Sertoli Cell Tumor 02-disease-root +EFO:1000573 Testicular Teratoma 01-disease-subtype +EFO:1000574 Testicular Yolk Sac Tumor 01-disease-subtype +EFO:1000575 Therapy-Related Myeloid Neoplasm 02-disease-root +EFO:1000576 Thymic Carcinoma 01-disease-subtype +EFO:1000577 Thymic Sarcomatoid Carcinoma 01-disease-subtype +EFO:1000578 Thymic Small Cell Carcinoma 01-disease-subtype +EFO:1000579 Thymic Squamous Cell Carcinoma 01-disease-subtype +EFO:1000580 Thymic Undifferentiated Carcinoma 01-disease-subtype +EFO:1000581 Thymoma 02-disease-root +EFO:1000582 Thymoma Type AB 01-disease-subtype +EFO:1000583 Thymoma Type B3 01-disease-subtype +EFO:1000584 Thymoma Type B1 01-disease-subtype +EFO:1000585 Thyroglossal Duct Cyst 02-disease-root +EFO:1000587 Thyroid Gland Diffuse Large B-Cell Lymphoma 01-disease-subtype +EFO:1000588 Thyroid Gland Hyalinizing Trabecular Tumor 02-disease-root +EFO:1000589 Thyroid Gland Mixed Medullary and Follicular Cell Carcinoma 02-disease-root +EFO:1000590 Thyroid Gland Mucoepidermoid Carcinoma 01-disease-subtype +EFO:1000591 Thyroid Gland Mucosa-Associated Lymphoid Tissue Lymphoma 01-disease-subtype +EFO:1000592 Thyroid Gland Oncocytic Follicular Carcinoma 02-disease-root +EFO:1000593 Thyroid Gland Spindle Cell Tumor with Thymus-Like Differentiation 02-disease-root +EFO:1000594 Thyroid Gland Squamous Cell Carcinoma 01-disease-subtype +EFO:1000595 Thyroid Gland Undifferentiated (Anaplastic) Carcinoma 02-disease-root +EFO:1000596 Tibial Adamantinoma 01-disease-subtype +EFO:1000597 Tonsillar Squamous Cell Carcinoma 01-disease-subtype +EFO:1000598 Tracheal Adenoid Cystic Carcinoma 01-disease-subtype +EFO:1000599 Tracheal Carcinoma 01-disease-subtype +EFO:1000600 Tracheal Squamous Cell Carcinoma 01-disease-subtype +EFO:1000601 Transitional Cell Carcinoma 03-disease-area +EFO:1000602 Transitional Meningioma 01-disease-subtype +EFO:1000603 Unclassified Renal Cell Carcinoma 02-disease-root +EFO:1000604 Undifferentiated Gallbladder Carcinoma 01-disease-subtype +EFO:1000605 Undifferentiated Ovarian Carcinoma 01-disease-subtype +EFO:1000606 Undifferentiated Pancreatic Carcinoma 01-disease-subtype +EFO:1000607 Undifferentiated Pancreatic Carcinoma with Osteoclast-Like Giant Cells 01-disease-subtype +EFO:1000608 Undifferentiated Pleomorphic Sarcoma, Inflammatory Variant 01-disease-subtype +EFO:1000609 Ureter Carcinoma 01-disease-subtype +EFO:1000610 Ureter Small Cell Carcinoma 01-disease-subtype +EFO:1000611 Urothelial Dysplasia 02-disease-root +EFO:1000612 Usual Ductal Breast Hyperplasia 01-disease-subtype +EFO:1000613 Uterine Carcinosarcoma 01-disease-subtype +EFO:1000614 Uterine Corpus Lipoleiomyoma 02-disease-root +EFO:1000616 Uveal Melanoma 01-disease-subtype +EFO:1000617 Vaginal Adenoid Cystic Carcinoma 01-disease-subtype +EFO:1000618 Vaginal Carcinosarcoma 02-disease-root +EFO:1000619 Vaginal Melanoma 01-disease-subtype +EFO:1000620 Vaginal Squamous Cell Carcinoma 01-disease-subtype +EFO:1000621 Vagus Nerve Paraganglioma 01-disease-subtype +EFO:1000622 VIP-Producing Neuroendocrine Tumor 02-disease-root +EFO:1000623 Vulvar Lichen Sclerosus 01-disease-subtype +EFO:1000624 Vulvar Squamous Cell Carcinoma 01-disease-subtype +EFO:1000625 Warthin Tumor 01-disease-subtype +EFO:1000627 thyroid disease 03-disease-area +EFO:1000630 marginal zone B-cell lymphoma 01-disease-subtype +EFO:1000631 palsy 03-disease-area +EFO:1000632 cerebral palsy 02-disease-root +EFO:1000633 adenomatous colon polyp 01-disease-subtype +EFO:1000634 hamartoma 03-disease-area +EFO:1000635 hemangioma 03-disease-area +EFO:1000636 inflammatory skin disease 03-disease-area +EFO:1000637 acute respiratory distress syndrome 02-disease-root +EFO:1000638 Isaacs syndrome 02-disease-root +EFO:1000639 acquired metabolic disease 03-disease-area +EFO:1000640 basal ganglia cerebrovascular disease 02-disease-root +EFO:1000641 congenital nonspherocytic hemolytic anemia 02-disease-root +EFO:1000642 hemochromatosis 02-disease-root +EFO:1000643 infantile epileptic encephalopathy 01-disease-subtype +EFO:1000644 newborn respiratory distress syndrome 02-disease-root +EFO:1000645 orthostatic intolerance 02-disease-root +EFO:1000646 papillary carcinoma 03-disease-area +EFO:1000647 renal tubular transport disease 03-disease-area +EFO:1000648 developmental dysplasia of the hip 02-disease-root +EFO:1000649 estrogen-receptor positive breast cancer 01-disease-subtype +EFO:1000650 estrogen-receptor negative breast cancer 01-disease-subtype +EFO:1000651 recalcitrant atopic dermatitis 01-disease-subtype +EFO:1000652 acute pancreatitis 02-disease-root +EFO:1000653 sarcopenia 02-disease-root +EFO:1000654 childhood cancer 03-disease-area +EFO:1000656 sporadic Creutzfeld Jacob disease 01-disease-subtype +EFO:1000657 rectum cancer 02-disease-root +EFO:1000660 acanthosis nigricans 02-disease-root +EFO:1000661 Achenbach syndrome 02-disease-root +EFO:1000662 acneiform dermatitis 02-disease-root +EFO:1000663 acquired keratosis 02-disease-root +EFO:1000664 acrodermatitis 02-disease-root +EFO:1000665 acrodermatitis chronica atrophicans 01-disease-subtype +EFO:1000666 acrokeratosis verruciformis 01-disease-subtype +EFO:1000667 adiposis dolorosa 01-disease-subtype +EFO:1000668 allergic contact dermatitis 01-disease-subtype +EFO:1000669 allergic urticaria 01-disease-subtype +EFO:1000670 anhidrosis 02-disease-root +EFO:1000671 bacterial exanthem 01-disease-subtype +EFO:1000674 carbuncle 04-non-disease +EFO:1000675 cholesteatoma 02-disease-root +EFO:1000676 cholesteatoma of attic 01-disease-subtype +EFO:1000677 cholesteatoma of external ear 01-disease-subtype +EFO:1000678 cholesteatoma of middle ear 01-disease-subtype +EFO:1000679 cholinergic urticaria 01-disease-subtype +EFO:1000680 mucous membrane pemphigoid 02-disease-root +EFO:1000681 congenital generalized lipodystrophy 02-disease-root +EFO:1000682 conjunctival pigmentation 01-disease-subtype +EFO:1000683 cutaneous diphtheria 04-non-disease +EFO:1000684 dermatitis herpetiformis 02-disease-root +EFO:1000685 dermatographia 01-disease-subtype +EFO:1000686 dermatosis papulosa nigra 02-disease-root +EFO:1000687 diffuse lipomatosis 01-disease-subtype +EFO:1000688 dyshidrosis 02-disease-root +EFO:1000689 ecthyma 04-non-disease +EFO:1000690 epidermolysis bullosa 03-disease-area +EFO:1000691 epidermolysis bullosa acquisita 02-disease-root +EFO:1000692 epidermolysis bullosa dystrophica 02-disease-root +EFO:1000693 erythema infectiosum 01-disease-subtype +EFO:1000694 erythema multiforme 02-disease-root +EFO:1000695 erythematosquamous dermatosis 02-disease-root +EFO:1000696 erythrasma 04-non-disease +EFO:1000697 exanthem 03-disease-area +EFO:1000698 facial dermatosis 03-disease-area +EFO:1000699 fibroepithelial polyp of the anus 01-disease-subtype +EFO:1000700 fibroepithelial polyp of urethra 01-disease-subtype +EFO:1000701 follicular mucinosis 01-disease-subtype +EFO:1000702 folliculitis 02-disease-root +EFO:1000703 fox fordyce disease 02-disease-root +EFO:1000704 granuloma annulare 02-disease-root +EFO:1000705 granulomatous dermatitis 02-disease-root +EFO:1000706 hand dermatosis 02-disease-root +EFO:1000707 hemangioma of subcutaneous tissue 02-disease-root +EFO:1000708 hereditary papulotranslucent acrokeratoderma 02-disease-root +EFO:1000709 pemphigoid gestationis 01-disease-subtype +EFO:1000710 hidradenitis suppurativa 01-disease-subtype +EFO:1000711 hyperpigmentation of eyelid 02-disease-root +EFO:1000712 hypohidrosis 02-disease-root +EFO:1000713 hypopigmentation of eyelid 02-disease-root +EFO:1000714 impetigo 04-non-disease +EFO:1000715 impetigo herpetiformis 04-non-disease +EFO:1000717 inverted follicular keratosis 01-disease-subtype +EFO:1000718 irritant dermatitis 01-disease-subtype +EFO:1000719 juvenile dermatitis herpetiformis 01-disease-subtype +EFO:1000720 keratosis 03-disease-area +EFO:1000721 kernicterus due to isoimmunization 01-disease-subtype +EFO:1000722 Kimura disease 02-disease-root +EFO:1000723 leg dermatosis 02-disease-root +EFO:1000724 lichen disease 03-disease-area +EFO:1000725 lichen nitidus 02-disease-root +EFO:1000726 lichen planus 02-disease-root +EFO:1000727 lipodystrophy 03-disease-area +EFO:1000728 lipomatosis 02-disease-root +EFO:1000729 loiasis 01-disease-subtype +EFO:1000730 Ludwig's angina 01-disease-subtype +EFO:1000731 maxillary sinus cholesteatoma 01-disease-subtype +EFO:1000732 mediastinal lipomatosis 01-disease-subtype +EFO:1000733 melanoacanthoma 01-disease-subtype +EFO:1000734 miliaria 02-disease-root +EFO:1000735 miliaria rubra 01-disease-subtype +EFO:1000736 mongolian spot 02-disease-root +EFO:1000737 multiple symmetric lipomatosis 01-disease-subtype +EFO:1000738 necrobiosis lipoidica 02-disease-root +EFO:1000739 neonatal jaundice 03-disease-area +EFO:1000740 neurodermatitis 02-disease-root +EFO:1000741 neurotic excoriation 02-disease-root +EFO:1000742 nodular nonsuppurative panniculitis 01-disease-subtype +EFO:1000744 occupational dermatitis 01-disease-subtype +EFO:1000745 palmoplantar keratosis 03-disease-area +EFO:1000746 panniculitis 02-disease-root +EFO:1000747 parapsoriasis 01-disease-subtype +EFO:1000748 pelvic lipomatosis 01-disease-subtype +EFO:1000749 pemphigus 02-disease-root +EFO:1000750 perinatal jaundice due to hepatocellular damage 02-disease-root +EFO:1000752 photosensitivity disease 03-disease-area +EFO:1000753 phototoxic dermatitis 01-disease-subtype +EFO:1000754 physical urticaria 01-disease-subtype +EFO:1000756 pityriasis rosea 02-disease-root +EFO:1000757 porokeratosis 02-disease-root +EFO:1000758 punctate palmoplantar keratoderma type III 01-disease-subtype +EFO:1000759 reactive cutaneous fibrous lesion 02-disease-root +EFO:1000760 rosacea 02-disease-root +EFO:1000761 scalp dermatosis 02-disease-root +EFO:1000762 scleredema adultorum 02-disease-root +EFO:1000763 sebaceous gland disease 03-disease-area +EFO:1000764 seborrheic dermatitis 02-disease-root +EFO:1000765 seborrheic infantile dermatitis 01-disease-subtype +EFO:1000766 skin atrophy 02-disease-root +EFO:1000767 skin sarcoidosis 01-disease-subtype +EFO:1000768 spongiotic dermatitis 04-non-disease +EFO:1000769 steroid lipomatosis 01-disease-subtype +EFO:1000770 stromal corneal pigmentation 02-disease-root +EFO:1000771 subcorneal pustular dermatosis 02-disease-root +EFO:1000772 sweat gland disease 03-disease-area +EFO:1000773 toxicodendron dermatitis 01-disease-subtype +EFO:1000774 vesiculobullous skin disease 03-disease-area +EFO:1000775 vibratory urticaria 01-disease-subtype +EFO:1000776 viral exanthem 02-disease-root +EFO:1000777 vulva fibroepithelial polyp 01-disease-subtype +EFO:1000778 vulvar inverted follicular keratosis 01-disease-subtype +EFO:1000779 vulvar seborrheic keratosis 01-disease-subtype +EFO:1000780 autoimmune pancreatitis type 1 01-disease-subtype +EFO:1000781 overactive bladder 02-disease-root +EFO:1000782 altitude sickness 01-disease-subtype +EFO:1000783 diabetic neuropathy 02-disease-root +EFO:1000784 microscopic polyangiitis 01-disease-subtype +EFO:1000785 Sezary's disease 01-disease-subtype +EFO:1000786 osteoarthritis, hip 01-disease-subtype +EFO:1000787 osteoarthritis, spine 01-disease-subtype +EFO:1000788 osteoarthritis, toe 01-disease-subtype +EFO:1000789 osteoarthritis, hand 01-disease-subtype +EFO:1000790 acalculous cholecystitis 01-disease-subtype +EFO:1000791 acidophil adenoma 02-disease-root +EFO:1000792 Acinetobacter infectious disease 01-disease-subtype +EFO:1000793 Actinobacillus infectious disease 02-disease-root +EFO:1000794 acute kidney tubular necrosis 01-disease-subtype +EFO:1000795 acute retinal necrosis syndrome 01-disease-subtype +EFO:1000796 adrenal cortex carcinoma 01-disease-subtype +EFO:1000797 adrenal gland hyperfunction 03-disease-area +EFO:1000798 adrenal rest tumor 02-disease-root +EFO:1000799 afferent loop syndrome 02-disease-root +EFO:1000800 alcohol withdrawal delirium 01-disease-subtype +EFO:1000801 alcoholic cardiomyopathy 01-disease-subtype +EFO:1000802 alcoholic liver cirrhosis 01-disease-subtype +EFO:1000803 alcoholic neuropathy 02-disease-root +EFO:1000804 anal gland neoplasm 02-disease-root +EFO:1000805 angioid streaks 02-disease-root +EFO:1000806 angiomyoma 02-disease-root +EFO:1000807 anterior cerebral artery infarction 02-disease-root +EFO:1000808 anterior compartment syndrome 01-disease-subtype +EFO:1000809 anterior ischemic optic neuropathy 02-disease-root +EFO:1000810 anterior spinal artery syndrome 02-disease-root +EFO:1000811 anterior uveitis 02-disease-root +EFO:1000812 anterolateral myocardial infarction 01-disease-subtype +EFO:1000813 anthracosilicosis 01-disease-subtype +EFO:1000814 anthracosis 01-disease-subtype +EFO:1000815 aortic valve prolapse 01-disease-subtype +EFO:1000816 aortitis 02-disease-root +EFO:1000817 apparent mineralocorticoid excess syndrome 02-disease-root +EFO:1000818 arcus senilis 01-disease-subtype +EFO:1000819 arteriolosclerosis 01-disease-subtype +EFO:1000820 arteriosclerosis obliterans 01-disease-subtype +EFO:1000821 arthus reaction 02-disease-root +EFO:1000822 ascorbic acid deficiency 02-disease-root +EFO:1000823 aseptic meningitis 02-disease-root +EFO:1000824 asphyxia neonatorum 02-disease-root +EFO:1000825 atrial heart septal defect 02-disease-root +EFO:1000826 atrophic gastritis 01-disease-subtype +EFO:1000827 atrophy of thyroid 02-disease-root +EFO:1000828 B- and T-cell mixed leukemia 01-disease-subtype +EFO:1000829 bacterial conjunctivitis 01-disease-subtype +EFO:1000830 bacterial endocarditis 01-disease-subtype +EFO:1000831 bacterial meningitis 02-disease-root +EFO:1000832 Bacteroides infectious disease 01-disease-subtype +EFO:1000833 balanitis 02-disease-root +EFO:1000834 basophil adenoma 02-disease-root +EFO:1000835 benign fibrous mesothelioma 01-disease-subtype +EFO:1000836 benign monoclonal gammopathy 01-disease-subtype +EFO:1000837 beriberi 01-disease-subtype +EFO:1000838 bile reflux 02-disease-root +EFO:1000839 bladder calculus 01-disease-subtype +EFO:1000840 bladder neck obstruction 02-disease-root +EFO:1000841 blue nevus 02-disease-root +EFO:1000842 Borrelia infectious disease 02-disease-root +EFO:1000843 brachial plexus neuritis 01-disease-subtype +EFO:1000844 brachial plexus neuropathy 03-disease-area +EFO:1000845 brain edema 02-disease-root +EFO:1000846 brain hypoxia-Ischemia 04-non-disease +EFO:1000847 brain stem infarction 02-disease-root +EFO:1000848 breast cyst 02-disease-root +EFO:1000849 bronchial neoplasm 03-disease-area +EFO:1000850 burning mouth syndrome 02-disease-root +EFO:1000851 byssinosis 01-disease-subtype +EFO:1000852 carcinoid syndrome 02-disease-root +EFO:1000853 carotid artery thrombosis 01-disease-subtype +EFO:1000854 causalgia 01-disease-subtype +EFO:1000855 central core myopathy 01-disease-subtype +EFO:1000856 central neurocytoma 01-disease-subtype +EFO:1000857 central pontine myelinolysis 02-disease-root +EFO:1000858 cerebellum cancer 02-disease-root +EFO:1000859 cerebral arterial disease 03-disease-area +EFO:1000860 cerebral atherosclerosis 01-disease-subtype +EFO:1000861 cervical rib syndrome 01-disease-subtype +EFO:1000862 cervix erosion 02-disease-root +EFO:1000863 Chlamydophila infectious disease 01-disease-subtype +EFO:1000864 cholecystolithiasis 02-disease-root +EFO:1000865 choledocholithiasis 01-disease-subtype +EFO:1000866 choroid cancer 01-disease-subtype +EFO:1000867 chromophobe adenoma 02-disease-root +EFO:1000868 chronic inflammatory demyelinating polyradiculoneuropathy 02-disease-root +EFO:1000869 chronic interstitial cystitis 01-disease-subtype +EFO:1000870 CNS demyelinating autoimmune disease 03-disease-area +EFO:1000871 colonic pseudo-obstruction 04-non-disease +EFO:1000872 commensal Bacteroidaceae infectious disease 02-disease-root +EFO:1000873 commensal Bifidobacteriales infectious disease 02-disease-root +EFO:1000874 commensal Clostridium infectious disease 02-disease-root +EFO:1000875 commensal Desulfovibrionaceae infectious disease 02-disease-root +EFO:1000876 common bile duct neoplasm 03-disease-area +EFO:1000877 complex partial epilepsy 01-disease-subtype +EFO:1000878 constrictive pericarditis 01-disease-subtype +EFO:1000879 corneal edema 02-disease-root +EFO:1000880 corneal neovascularization 02-disease-root +EFO:1000881 coronary aneurysm 01-disease-subtype +EFO:1000882 coronary stenosis 01-disease-subtype +EFO:1000883 coronary thrombosis 01-disease-subtype +EFO:1000884 cranial nerve malignant neoplasm 03-disease-area +EFO:1000885 cutaneous fibrous histiocytoma 01-disease-subtype +EFO:1000886 cutaneous mastocytosis 01-disease-subtype +EFO:1000887 cutaneous syphilis 01-disease-subtype +EFO:1000888 cystic lymphangioma 01-disease-subtype +EFO:1000889 cystic, mucinous, and serous neoplasm 03-disease-area +EFO:1000890 Dandy-Walker syndrome 01-disease-subtype +EFO:1000891 De Quervain disease 02-disease-root +EFO:1000892 dental fluorosis 02-disease-root +EFO:1000893 denture stomatitis 02-disease-root +EFO:1000894 dermoid cyst 02-disease-root +EFO:1000895 desmoplastic small round cell tumor 01-disease-subtype +EFO:1000896 diabetic angiopathy 02-disease-root +EFO:1000897 diabetic ketoacidosis 01-disease-subtype +EFO:1000898 diaphragmatic eventration 02-disease-root +EFO:1000899 diastolic heart failure 01-disease-subtype +EFO:1000900 discitis 01-disease-subtype +EFO:1000901 discrete subaortic stenosis 01-disease-subtype +EFO:1000902 drug psychosis 01-disease-subtype +EFO:1000903 drug-induced akathisia 02-disease-root +EFO:1000904 drug-Induced dyskinesia 02-disease-root +EFO:1000905 drug-induced hepatitis 04-non-disease +EFO:1000906 dry eye syndrome 02-disease-root +EFO:1000907 duodenal benign neoplasm 01-disease-subtype +EFO:1000908 duodenal obstruction 04-non-disease +EFO:1000909 duodenogastric reflux 01-disease-subtype +EFO:1000910 dysplasia of cervix 03-disease-area +EFO:1000911 dystocia 02-disease-root +EFO:1000912 eccrine acrospiroma 01-disease-subtype +EFO:1000913 ehrlich tumor carcinoma 01-disease-subtype +EFO:1000914 empty sella syndrome 02-disease-root +EFO:1000915 encephalomalacia 02-disease-root +EFO:1000916 endemic goiter 02-disease-root +EFO:1000917 endocrine tuberculosis 03-disease-area +EFO:1000918 endolymphatic hydrops 01-disease-subtype +EFO:1000919 endometrial stromal sarcoma 01-disease-subtype +EFO:1000920 endometrial stromal tumor 02-disease-root +EFO:1000921 endomyocardial fibrosis 02-disease-root +EFO:1000922 enterotoxemia 04-non-disease +EFO:1000923 epidural neoplasm 02-disease-root +EFO:1000924 epilepsia partialis continua 01-disease-subtype +EFO:1000925 epithelioid and spindle cell nevus 01-disease-subtype +EFO:1000926 Erdheim-Chester disease 01-disease-subtype +EFO:1000928 Erysipelothrix rhusiopathiae infectious disease 01-disease-subtype +EFO:1000929 Escherichia coli meningitis 01-disease-subtype +EFO:1000930 esophageal diverticulosis 02-disease-root +EFO:1000931 euthyroid sick syndrome 02-disease-root +EFO:1000932 extracutaneous mastocytoma 01-disease-subtype +EFO:1000933 extrahepatic cholestasis 01-disease-subtype +EFO:1000934 eyelid neoplasm 03-disease-area +EFO:1000935 female genital tuberculosis 02-disease-root +EFO:1000936 femoral neuropathy 02-disease-root +EFO:1000937 fetal erythroblastosis 01-disease-subtype +EFO:1000938 fibromuscular dysplasia 02-disease-root +EFO:1000939 freemartinism 01-disease-subtype +EFO:1000940 Frey Syndrome 02-disease-root +EFO:1000941 frozen shoulder 02-disease-root +EFO:1000942 fungal meningitis 02-disease-root +EFO:1000943 Fusobacterium infectious disease 01-disease-subtype +EFO:1000944 gait apraxia 01-disease-subtype +EFO:1000945 gastric antral vascular ectasia 01-disease-subtype +EFO:1000946 gastric mucosal hypertrophy 01-disease-subtype +EFO:1000947 gastric outlet obstruction 02-disease-root +EFO:1000948 gastroparesis 02-disease-root +EFO:1000949 gastroschisis 01-disease-subtype +EFO:1000950 giant cell reparative granuloma 01-disease-subtype +EFO:1000951 glossitis 02-disease-root +EFO:1000952 glycogen storage disease VIII 02-disease-root +EFO:1000953 gonadal tissue neoplasm 02-disease-root +EFO:1000954 habitual abortion 02-disease-root +EFO:1000955 Haemophilus influenzae meningitis 01-disease-subtype +EFO:1000956 hairy cell leukemia 01-disease-subtype +EFO:1000957 hairy tongue 02-disease-root +EFO:1000958 halo nevus 02-disease-root +EFO:1000959 heart aneurysm 02-disease-root +EFO:1000960 heartwater disease 02-disease-root +EFO:1000961 Helicobacter pylori infectious disease 02-disease-root +EFO:1000962 hemometra 02-disease-root +EFO:1000963 hemopneumothorax 01-disease-subtype +EFO:1000964 hemorrhagic disease of newborn 02-disease-root +EFO:1000965 Henoch-Schoenlein purpura 02-disease-root +EFO:1000966 hepatic vein thrombosis 02-disease-root +EFO:1000967 hidrocystoma 01-disease-subtype +EFO:1000968 hydrophthalmos 01-disease-subtype +EFO:1000969 hyperamylasemia 02-disease-root +EFO:1000970 hypercementosis 02-disease-root +EFO:1000971 hyperemesis gravidarum 02-disease-root +EFO:1000972 hyperglobulinemic purpura 01-disease-subtype +EFO:1000973 hyperpituitarism 02-disease-root +EFO:1000974 hypersensitivity vasculitis 02-disease-root +EFO:1000975 hypersplenism 02-disease-root +EFO:1000976 hypertensive encephalopathy 01-disease-subtype +EFO:1000977 hypertensive retinopathy 02-disease-root +EFO:1000978 hypervitaminosis A 02-disease-root +EFO:1000979 hypothalamic neoplasm 03-disease-area +EFO:1000980 ideomotor apraxia 01-disease-subtype +EFO:1000981 ileal neoplasm 03-disease-area +EFO:1000982 inappropriate ADH syndrome 01-disease-subtype +EFO:1000983 inferior myocardial infarction 01-disease-subtype +EFO:1000984 inflammatory breast carcinoma 01-disease-subtype +EFO:1000985 intermediate coronary syndrome 01-disease-subtype +EFO:1000986 intermediate uveitis 02-disease-root +EFO:1000987 intestinal perforation 02-disease-root +EFO:1000988 intestinal pseudo-obstruction 04-non-disease +EFO:1000989 intestinal volvulus 01-disease-subtype +EFO:1000990 intracranial arterial disease 03-disease-area +EFO:1000991 intracranial embolism 02-disease-root +EFO:1000992 intracranial hypertension 01-disease-subtype +EFO:1000993 intracranial hypotension 02-disease-root +EFO:1000994 intracranial vasospasm 02-disease-root +EFO:1000995 intradermal nevus 02-disease-root +EFO:1000996 iris cancer 02-disease-root +EFO:1000997 iritis 02-disease-root +EFO:1000998 jejunal cancer 01-disease-subtype +EFO:1000999 joint disease 03-disease-area +EFO:1001000 juxtacortical osteosarcoma 01-disease-subtype +EFO:1001002 kernicterus 02-disease-root +EFO:1001003 kidney cortex necrosis 02-disease-root +EFO:1001004 kidney papillary necrosis 02-disease-root +EFO:1001005 Klatskin's tumor 01-disease-subtype +EFO:1001006 Klinefelter's syndrome 01-disease-subtype +EFO:1001007 krebs 2 carcinoma 02-disease-root +EFO:1001008 kuru 02-disease-root +EFO:1001009 kwashiorkor 01-disease-subtype +EFO:1001010 Landau-Kleffner syndrome 01-disease-subtype +EFO:1001011 lateral medullary syndrome 01-disease-subtype +EFO:1001012 leptomeningeal metastasis 02-disease-root +EFO:1001013 lethal midline granuloma 02-disease-root +EFO:1001014 leukemoid reaction 02-disease-root +EFO:1001015 leukoplakia of penis 01-disease-subtype +EFO:1001016 leukostasis 02-disease-root +EFO:1001017 limited scleroderma 01-disease-subtype +EFO:1001018 lingual goiter 02-disease-root +EFO:1001019 lip cancer 02-disease-root +EFO:1001020 lipoid nephrosis 01-disease-subtype +EFO:1001021 Listeria meningitis 01-disease-subtype +EFO:1001022 low tension glaucoma 01-disease-subtype +EFO:1001023 lupus vulgaris 01-disease-subtype +EFO:1001024 Lutembacher's syndrome 01-disease-subtype +EFO:1001025 lymphangiectasis 01-disease-subtype +EFO:1001026 lymphangioendothelioma 01-disease-subtype +EFO:1001027 lymphangiomyoma 01-disease-subtype +EFO:1001028 macular holes 02-disease-root +EFO:1001029 magnesium deficiency 02-disease-root +EFO:1001030 male genital tuberculosis 01-disease-subtype +EFO:1001031 malignant hypertension 01-disease-subtype +EFO:1001032 malignant lymphatic vessel tumor 02-disease-root +EFO:1001033 marasmus 01-disease-subtype +EFO:1001034 mastitis 02-disease-root +EFO:1001035 maxillary sinus neoplasm 03-disease-area +EFO:1001036 Meckel's diverticulum 02-disease-root +EFO:1001037 meconium aspiration syndrome 01-disease-subtype +EFO:1001038 melanotic neuroectodermal tumor 02-disease-root +EFO:1001039 Melkersson-Rosenthal syndrome 01-disease-subtype +EFO:1001040 meningococcal meningitis 01-disease-subtype +EFO:1001041 mesenchymal chondrosarcoma 01-disease-subtype +EFO:1001042 mesenchymoma 02-disease-root +EFO:1001043 mesenteric vascular occlusion 02-disease-root +EFO:1001044 mesothelial neoplasm 03-disease-area +EFO:1001045 middle cerebral artery infarction 02-disease-root +EFO:1001047 mouth disease 03-disease-area +EFO:1001048 mucinous cystadenoma 01-disease-subtype +EFO:1001050 multiple system atrophy 02-disease-root +EFO:1001051 mycosis fungoides 01-disease-subtype +EFO:1001052 myeloid sarcoma 01-disease-subtype +EFO:1001053 myoclonic cerebellar dyssynergia 02-disease-root +EFO:1001054 myofascial pain syndrome 02-disease-root +EFO:1001055 myxedema 02-disease-root +EFO:1001056 myxosarcoma 02-disease-root +EFO:1001057 necrotizing sialometaplasia 02-disease-root +EFO:1001058 necrotizing ulcerative gingivitis 01-disease-subtype +EFO:1001059 neonatal myasthenia gravis 01-disease-subtype +EFO:1001060 neovascular glaucoma 01-disease-subtype +EFO:1001061 neurogenic bowel 02-disease-root +EFO:1001062 nodular goiter 02-disease-root +EFO:1001063 noma 01-disease-subtype +EFO:1001064 non-gestational choriocarcinoma 01-disease-subtype +EFO:1001065 normal pressure hydrocephalus 02-disease-root +EFO:1001066 nut allergic reaction 02-disease-root +EFO:1001067 nutritional deficiency disease 03-disease-area +EFO:1001068 obstructive jaundice 01-disease-subtype +EFO:1001069 ocular hypertension 01-disease-subtype +EFO:1001070 ocular tuberculosis 01-disease-subtype +EFO:1001071 oophoritis 02-disease-root +EFO:1001072 opportunistic Moraxellaceae infectious disease 02-disease-root +EFO:1001073 optic nerve neoplasm 03-disease-area +EFO:1001074 optic papillitis 01-disease-subtype +EFO:1001075 oral leukoedema 02-disease-root +EFO:1001076 orbital cellulitis 01-disease-subtype +EFO:1001077 orbital plasma cell granuloma 01-disease-subtype +EFO:1001078 orchitis 02-disease-root +EFO:1001079 oxyphilic adenoma 02-disease-root +EFO:1001080 Pancoast tumor 01-disease-subtype +EFO:1001081 panophthalmitis 01-disease-subtype +EFO:1001082 panuveitis 02-disease-root +EFO:1001083 papillary follicular thyroid adenocarcinoma 01-disease-subtype +EFO:1001084 parametritis 01-disease-subtype +EFO:1001085 paraneoplastic polyneuropathy 02-disease-root +EFO:1001086 paraphimosis 01-disease-subtype +EFO:1001087 parathyroid adenoma 02-disease-root +EFO:1001088 pars planitis 01-disease-subtype +EFO:1001089 partial motor epilepsy 01-disease-subtype +EFO:1001090 partial sensory epilepsy 01-disease-subtype +EFO:1001091 Pasteurella hemorrhagic septicemia 01-disease-subtype +EFO:1001092 patellofemoral pain syndrome 02-disease-root +EFO:1001093 Pelger-Huet anomaly 02-disease-root +EFO:1001094 penile neoplasm 03-disease-area +EFO:1001095 peptic esophagitis 01-disease-subtype +EFO:1001096 periapical granuloma 01-disease-subtype +EFO:1001097 periarthritis 01-disease-subtype +EFO:1001098 pericoronitis 01-disease-subtype +EFO:1001099 perinephritis 02-disease-root +EFO:1001100 peritoneal neoplasm 03-disease-area +EFO:1001101 periventricular leukomalacia 01-disease-subtype +EFO:1001102 peroneal nerve paralysis 02-disease-root +EFO:1001103 persistent fetal circulation syndrome 01-disease-subtype +EFO:1001104 phimosis 02-disease-root +EFO:1001105 pigmented spindle cell nevus 02-disease-root +EFO:1001106 pigmented villonodular synovitis 01-disease-subtype +EFO:1001107 pilar sheath acanthoma 01-disease-subtype +EFO:1001108 pituitary apoplexy 01-disease-subtype +EFO:1001109 pituitary dwarfism 02-disease-root +EFO:1001110 pituitary-dependent Cushing's disease 01-disease-subtype +EFO:1001111 placental site trophoblastic tumor 01-disease-subtype +EFO:1001112 platelet storage pool deficiency 02-disease-root +EFO:1001113 pneumatosis cystoides intestinalis 02-disease-root +EFO:1001114 pneumococcal meningitis 01-disease-subtype +EFO:1001115 POEMS syndrome 02-disease-root +EFO:1001116 polyradiculoneuropathy 02-disease-root +EFO:1001117 postcholecystectomy syndrome 02-disease-root +EFO:1001118 posterior cerebral artery infarction 02-disease-root +EFO:1001119 posterior uveitis 01-disease-subtype +EFO:1001120 potassium deficiency 02-disease-root +EFO:1001121 prediabetes syndrome 01-disease-subtype +EFO:1001122 primary Actinomycetales infectious disease 02-disease-root +EFO:1001123 primary Anaplasmataceae infectious disease 02-disease-root +EFO:1001124 primary Bacillaceae infectious disease 02-disease-root +EFO:1001125 primary Bartonellaceae infectious disease 02-disease-root +EFO:1001126 primary Fusobacteriaceae infectious disease 02-disease-root +EFO:1001127 primary Haemophilus infectious disease 02-disease-root +EFO:1001128 Rickettsiaceae infectious disease 03-disease-area +EFO:1001129 proliferative vitreoretinopathy 01-disease-subtype +EFO:1001130 Proteus infectious disease 02-disease-root +EFO:1001131 pseudobulbar palsy 02-disease-root +EFO:1001132 pseudotumor cerebri 01-disease-subtype +EFO:1001133 pulmonary coin lesion 02-disease-root +EFO:1001134 pulmonary edema 02-disease-root +EFO:1001135 pulmonary plasma cell granuloma 02-disease-root +EFO:1001137 pulmonary subvalvular stenosis 01-disease-subtype +EFO:1001138 pulmonary valve stenosis 01-disease-subtype +EFO:1001139 pulpitis 02-disease-root +EFO:1001140 pyelitis 02-disease-root +EFO:1001141 pyelonephritis 01-disease-subtype +EFO:1001142 pyruvate carboxylase deficiency disease 02-disease-root +EFO:1001143 radial nerve lesion 01-disease-subtype +EFO:1001144 rat-bite fever 02-disease-root +EFO:1001145 Raynaud disease 02-disease-root +EFO:1001146 reflex epilepsy 01-disease-subtype +EFO:1001147 reflex sympathetic dystrophy 01-disease-subtype +EFO:1001148 relapsing polychondritis 01-disease-subtype +EFO:1001149 renal aminoaciduria 02-disease-root +EFO:1001150 renal artery obstruction 02-disease-root +EFO:1001151 renal glycosuria 02-disease-root +EFO:1001152 renal osteodystrophy 01-disease-subtype +EFO:1001153 renovascular hypertension 02-disease-root +EFO:1001154 retinal artery occlusion 01-disease-subtype +EFO:1001155 retinal drusen 02-disease-root +EFO:1001156 retinal vasculitis 01-disease-subtype +EFO:1001157 retinal vein occlusion 02-disease-root +EFO:1001158 retinopathy of prematurity 02-disease-root +EFO:1001159 Rh isoimmunization 02-disease-root +EFO:1001160 rheumatic fever 02-disease-root +EFO:1001161 rheumatic heart disease 03-disease-area +EFO:1001162 rickettsiosis 03-disease-area +EFO:1001163 root caries 01-disease-subtype +EFO:1001164 SAPHO syndrome 01-disease-subtype +EFO:1001165 Schnitzler syndrome 02-disease-root +EFO:1001166 sciatic neuropathy 02-disease-root +EFO:1001167 scimitar syndrome 01-disease-subtype +EFO:1001168 scrapie 02-disease-root +EFO:1001169 scurvy 02-disease-root +EFO:1001171 sebaceous adenocarcinoma 01-disease-subtype +EFO:1001172 sebaceous gland neoplasm 03-disease-area +EFO:1001173 secondary hyperparathyroidism 02-disease-root +EFO:1001174 secondary hypertrophic osteoarthropathy 02-disease-root +EFO:1001175 secondary Parkinson disease 01-disease-subtype +EFO:1001176 sensorineural hearing loss 02-disease-root +EFO:1001177 septic abortion 02-disease-root +EFO:1001178 shoulder impingement syndrome 02-disease-root +EFO:1001179 sialadenitis 02-disease-root +EFO:1001180 sialolithiasis 02-disease-root +EFO:1001181 sigmoid neoplasm 03-disease-area +EFO:1001182 silo filler's disease 02-disease-root +EFO:1001183 skin appendage carcinoma 02-disease-root +EFO:1001184 small cell sarcoma 02-disease-root +EFO:1001185 smooth muscle tumor 02-disease-root +EFO:1001186 Sneddon syndrome 02-disease-root +EFO:1001187 somatostatinoma 01-disease-subtype +EFO:1001188 space motion sickness 04-non-disease +EFO:1001189 spermatocele 02-disease-root +EFO:1001190 splenic infarction 02-disease-root +EFO:1001191 steatitis 04-non-disease +EFO:1001192 struma ovarii 01-disease-subtype +EFO:1001193 subacute bacterial endocarditis 01-disease-subtype +EFO:1001194 subacute thyroiditis 02-disease-root +EFO:1001195 subclavian steal syndrome 02-disease-root +EFO:1001196 subdural empyema 01-disease-subtype +EFO:1001197 subependymal glioma 02-disease-root +EFO:1001198 substernal goiter 02-disease-root +EFO:1001199 subvalvular aortic stenosis 01-disease-subtype +EFO:1001200 sulfhemoglobinemia 02-disease-root +EFO:1001201 superior mesenteric artery syndrome 04-non-disease +EFO:1001202 suppurative periapical periodontitis 01-disease-subtype +EFO:1001203 suppurative uveitis 02-disease-root +EFO:1001204 sweat gland neoplasm 03-disease-area +EFO:1001205 sympathetic ophthalmia 01-disease-subtype +EFO:1001206 syphilitic aortitis 01-disease-subtype +EFO:1001207 systolic heart failure 01-disease-subtype +EFO:1001208 tarsal tunnel syndrome 01-disease-subtype +EFO:1001209 temporal arteritis 01-disease-subtype +EFO:1001210 tethered spinal cord syndrome 02-disease-root +EFO:1001211 thromboangiitis obliterans 01-disease-subtype +EFO:1001212 thyroid crisis 01-disease-subtype +EFO:1001213 tibial neuropathy 02-disease-root +EFO:1001214 tonsil cancer 01-disease-subtype +EFO:1001216 tooth disease 03-disease-area +EFO:1001217 Treponema infectious disease 02-disease-root +EFO:1001218 tricuspid valve prolapse 01-disease-subtype +EFO:1001219 trigeminal neuralgia 02-disease-root +EFO:1001220 trochlear nerve disease 03-disease-area +EFO:1001221 twin-to-twin transfusion syndrome 01-disease-subtype +EFO:1001222 type III hypersensitivity reaction disease 03-disease-area +EFO:1001223 ulcerative proctosigmoiditis 01-disease-subtype +EFO:1001224 ulnar neuropathy 02-disease-root +EFO:1001225 Ureaplasma urealyticum urethritis 01-disease-subtype +EFO:1001226 uremia 01-disease-subtype +EFO:1001227 ureterocele 02-disease-root +EFO:1001228 ureterolithiasis 02-disease-root +EFO:1001229 maculopapular cutaneous mastocytosis 01-disease-subtype +EFO:1001230 uveal cancer 02-disease-root +EFO:1001231 uveitis 03-disease-area +EFO:1001232 uveoparotid fever 01-disease-subtype +EFO:1001233 variant Creutzfeldt-Jakob disease 01-disease-subtype +EFO:1001234 vasculogenic impotence 01-disease-subtype +EFO:1001235 Vibrio infectious disease 02-disease-root +EFO:1001236 viral meningitis 01-disease-subtype +EFO:1001237 vitamin A deficiency 02-disease-root +EFO:1001238 vitreous detachment 01-disease-subtype +EFO:1001239 vulvitis 02-disease-root +EFO:1001240 vulvovaginitis 01-disease-subtype +EFO:1001241 Wernicke encephalopathy 02-disease-root +EFO:1001242 Wernicke-Korsakoff syndrome 02-disease-root +EFO:1001243 wheat allergic reaction 02-disease-root +EFO:1001244 xanthogranulomatous pyelonephritis 01-disease-subtype +EFO:1001245 Yersinia infectious disease 03-disease-area +EFO:1001246 Yersinia pseudotuberculosis infectious disease 02-disease-root +EFO:1001247 chancre 01-disease-subtype +EFO:1001248 non-alcoholic fatty liver 04-non-disease +EFO:1001249 non-alcoholic steatohepatitis 01-disease-subtype +EFO:1001250 rotator cuff tear 02-disease-root +EFO:1001252 gastric cardia carcinoma 01-disease-subtype +EFO:1001253 maculopapular eruption 02-disease-root +EFO:1001254 noise-induced hearing loss 01-disease-subtype +EFO:1001255 spontaneous abortion 02-disease-root +EFO:1001256 ACTH Syndrome, Ectopic 02-disease-root +EFO:1001257 acute erythroblastic leukemia 01-disease-subtype +EFO:1001258 Adenomatosis, Pulmonary 02-disease-root +EFO:1001259 Adenoviridae Infections 02-disease-root +EFO:1001260 alcoholic psychosis 02-disease-root +EFO:1001261 Alien Hand Syndrome 02-disease-root +EFO:1001262 Alternariosis 02-disease-root +EFO:1001263 amniotic fluid embolism 02-disease-root +EFO:1001264 Anemia, Hemolytic, Autoimmune 01-disease-subtype +EFO:1001265 Aneurysm, False 02-disease-root +EFO:1001266 Aniseikonia 02-disease-root +EFO:1001267 Aortic Coarctation 01-disease-subtype +EFO:1001268 Aortic Rupture 02-disease-root +EFO:1001269 Arbovirus Infections 02-disease-root +EFO:1001270 Arterio-Arterial Fistula 02-disease-root +EFO:1001271 Atrophic Vaginitis 04-non-disease +EFO:1001272 bacterial pneumonia 01-disease-subtype +EFO:1001274 Bone Anteversion 04-non-disease +EFO:1001275 Bordetella Infections 02-disease-root +EFO:1001276 Brain Stem Hemorrhage, Traumatic 02-disease-root +EFO:1001277 Branchioma 02-disease-root +EFO:1001278 Brown-Pearce carcinoma 01-disease-subtype +EFO:1001279 Brown-Sequard Syndrome 01-disease-subtype +EFO:1001280 Burkholderia Infections 02-disease-root +EFO:1001282 Candidemia 01-disease-subtype +EFO:1001283 Candidiasis, Invasive 02-disease-root +EFO:1001284 capillary leak syndrome 02-disease-root +EFO:1001285 Cardiac Tamponade 01-disease-subtype +EFO:1001286 Caroli Disease 01-disease-subtype +EFO:1001287 Cestode Infections 02-disease-root +EFO:1001288 Chlamydiaceae Infections 02-disease-root +EFO:1001289 Cholecystitis, Acute 01-disease-subtype +EFO:1001290 chorea gravidarum 01-disease-subtype +EFO:1001291 ciguatera poisoning 04-non-disease +EFO:1001292 Circoviridae Infections 02-disease-root +EFO:1001293 collagenous colitis 01-disease-subtype +EFO:1001294 lymphocytic colitis 01-disease-subtype +EFO:1001295 microscopic colitis 01-disease-subtype +EFO:1001296 colon diverticulum 02-disease-root +EFO:1001297 Coronary-Subclavian Steal Syndrome 02-disease-root +EFO:1001298 Coxa Vara 02-disease-root +EFO:1001299 Crush Syndrome 01-disease-subtype +EFO:1001300 Cryptogenic Organizing Pneumonia 01-disease-subtype +EFO:1001301 Cubital Tunnel Syndrome 02-disease-root +EFO:1001302 Cytomegalovirus Retinitis 01-disease-subtype +EFO:1001303 Deltaretrovirus Infections 02-disease-root +EFO:1001304 Dental enamel hypoplasia 02-disease-root +EFO:1001305 Dermatitis, Perioral 02-disease-root +EFO:1001306 Diarrhea, Infantile 04-non-disease +EFO:1001307 dumping syndrome 02-disease-root +EFO:1001308 Embolism, Paradoxical 02-disease-root +EFO:1001309 Encephalitis, Tick-Borne 02-disease-root +EFO:1001310 Encephalitis, Varicella Zoster 02-disease-root +EFO:1001311 End Stage Liver Disease 02-disease-root +EFO:1001312 Endometritis 02-disease-root +EFO:1001313 Enterobacteriaceae Infections 02-disease-root +EFO:1001314 pseudomembranous enterocolitis 01-disease-subtype +EFO:1001315 Enzootic Bovine Leukosis 04-non-disease +EFO:1001316 Eosinophilia-Myalgia Syndrome 01-disease-subtype +EFO:1001317 Epiphyses, Slipped 02-disease-root +EFO:1001318 Escherichia coli Infections 02-disease-root +EFO:1001319 Euglenozoa Infections 02-disease-root +EFO:1001320 Exanthema Subitum 02-disease-root +EFO:1001321 extrinsic allergic alveolitis 02-disease-root +EFO:1001322 eye foreign body 01-disease-subtype +EFO:1001323 Eye Injuries, Penetrating 02-disease-root +EFO:1001324 Fascioliasis 02-disease-root +EFO:1001325 abdominal fibromatosis 01-disease-subtype +EFO:1001326 Flavivirus Infections 02-disease-root +EFO:1001327 Flavobacteriaceae Infections 02-disease-root +EFO:1001328 fluoride poisoning 04-non-disease +EFO:1001329 Follicular Cyst 02-disease-root +EFO:1001330 Foster-Kennedy syndrome 01-disease-subtype +EFO:1001331 Genital neoplasm, female 03-disease-area +EFO:1001332 Giant Lymph Node Hyperplasia 02-disease-root +EFO:1001333 Glycogen Storage Disease Type 2b 01-disease-subtype +EFO:1001335 Gynatresia 02-disease-root +EFO:1001336 Hammer Toe Syndrome 02-disease-root +EFO:1001337 Hand-Arm Vibration Syndrome 02-disease-root +EFO:1001339 Heart neoplasm 03-disease-area +EFO:1001340 Heat Stroke 04-non-disease +EFO:1001341 Heavy Chain Disease 02-disease-root +EFO:1001342 Helminthiasis 03-disease-area +EFO:1001343 Hemangioma, Cavernous, Central Nervous System 01-disease-subtype +EFO:1001344 Hemarthrosis 02-disease-root +EFO:1001345 Hepatitis, Alcoholic 02-disease-root +EFO:1001346 Hepatopulmonary Syndrome 02-disease-root +EFO:1001347 Herpes Labialis 01-disease-subtype +EFO:1001348 HIV-Associated Lipodystrophy Syndrome 01-disease-subtype +EFO:1001349 Human T-lymphotropic virus 2 infectious disease 01-disease-subtype +EFO:1001350 Immunoblastic Lymphadenopathy 02-disease-root +EFO:1001351 infectious arthritis 01-disease-subtype +EFO:1001352 Kartagener Syndrome 02-disease-root +EFO:1001353 Klebsiella Infections 02-disease-root +EFO:1001354 Kleine-Levin Syndrome 01-disease-subtype +EFO:1001355 Laryngopharyngeal Reflux 01-disease-subtype +EFO:1001356 Leiomyoma, Epithelioid 02-disease-root +EFO:1001357 Lentivirus Infections 03-disease-area +EFO:1001358 Leprosy, Paucibacillary 01-disease-subtype +EFO:1001359 Leukocyte-Adhesion Deficiency Syndrome 02-disease-root +EFO:1001360 Leukoplakia, Hairy 02-disease-root +EFO:1001361 localised scleroderma 01-disease-subtype +EFO:1001362 Lung Abscess 01-disease-subtype +EFO:1001363 Lupus Vasculitis, Central Nervous System 01-disease-subtype +EFO:1001364 Lymphatic Metastasis 04-non-disease +EFO:1001365 Lymphoma, AIDS-Related 01-disease-subtype +EFO:1001366 Mastodynia 04-non-disease +EFO:1001367 Medial Tibial Stress Syndrome 02-disease-root +EFO:1001368 Mediastinal Cyst 02-disease-root +EFO:1001369 Meningomyelocele 02-disease-root +EFO:1001370 Metatarsalgia 04-non-disease +EFO:1001371 Mixed Tumor, Mesodermal 01-disease-subtype +EFO:1001372 Monieziasis 02-disease-root +EFO:1001373 Multiple Organ Failure 04-non-disease +EFO:1001374 Mycoplasmatales Infections 02-disease-root +EFO:1001375 Myocardial Ischemia 01-disease-subtype +EFO:1001376 Necrobiotic Xanthogranuloma 01-disease-subtype +EFO:1001377 Neisseriaceae Infections 02-disease-root +EFO:1001378 neurogenic arthropathy 02-disease-root +EFO:1001379 neuroleptic malignant syndrome 02-disease-root +EFO:1001380 Niemann-Pick disease 01-disease-subtype +EFO:1001381 Nocturnal Paroxysmal Dystonia 02-disease-root +EFO:1001382 Obesity Hypoventilation Syndrome 02-disease-root +EFO:1001383 Opsoclonus-Myoclonus Syndrome 02-disease-root +EFO:1001384 Panniculitis, Peritoneal 01-disease-subtype +EFO:1001385 Paralysis, Obstetric 01-disease-subtype +EFO:1001386 Pasteurellaceae Infections 02-disease-root +EFO:1001387 Peliosis Hepatis 02-disease-root +EFO:1001388 Pelvic Inflammatory Disease 02-disease-root +EFO:1001389 Peptic ulcer perforation 02-disease-root +EFO:1001390 Peri-Implantitis 02-disease-root +EFO:1001391 Periapical Periodontitis 01-disease-subtype +EFO:1001392 Perimeningeal Infections 02-disease-root +EFO:1001393 Periodontal Pocket 02-disease-root +EFO:1001394 Peritoneal Fibrosis 02-disease-root +EFO:1001395 Phlebitis 02-disease-root +EFO:1001396 Pinta 02-disease-root +EFO:1001397 Piscirickettsiaceae Infections 02-disease-root +EFO:1001398 Pneumocephalus 02-disease-root +EFO:1001399 Pneumonia, Aspiration 01-disease-subtype +EFO:1001400 Pneumopericardium 01-disease-subtype +EFO:1001401 Pneumovirus Infections 02-disease-root +EFO:1001402 postencephalitic Parkinson disease 01-disease-subtype +EFO:1001403 Postpartum Thyroiditis 01-disease-subtype +EFO:1001404 Postpericardiotomy Syndrome 02-disease-root +EFO:1001406 Prosthesis-Related Infections 02-disease-root +EFO:1001407 Puerperal Infection 01-disease-subtype +EFO:1001408 Pulmonary Infarction 01-disease-subtype +EFO:1001409 Pyomyositis 01-disease-subtype +EFO:1001410 Pythiosis 02-disease-root +EFO:1001411 Radiation Pneumonitis 02-disease-root +EFO:1001412 Renal Colic 04-non-disease +EFO:1001413 Respiratory Syncytial Virus Infection 01-disease-subtype +EFO:1001414 Retrobulbar Hemorrhage 02-disease-root +EFO:1001415 Retropharyngeal Abscess 01-disease-subtype +EFO:1001416 rheumatic fever nodule 04-non-disease +EFO:1001417 Rhinitis, Allergic, Perennial 01-disease-subtype +EFO:1001418 Salmonella Infections 02-disease-root +EFO:1001419 Schistosomiasis japonica 02-disease-root +EFO:1001420 Schistosomiasis mansoni 02-disease-root +EFO:1001421 Serratia Infections 02-disease-root +EFO:1001422 Sertoli Cell-Only Syndrome 01-disease-subtype +EFO:1001423 Shaken Baby Syndrome 02-disease-root +EFO:1001424 skin epithelioid hemangioma 01-disease-subtype +EFO:1001425 Skull Fractures 02-disease-root +EFO:1001426 Spinal Cord Ischemia 01-disease-subtype +EFO:1001428 Subacute Combined Degeneration 02-disease-root +EFO:1001429 Subdural Effusion 02-disease-root +EFO:1001430 Sublingual Gland Neoplasms 02-disease-root +EFO:1001431 suppurative thyroiditis 02-disease-root +EFO:1001432 Tachycardia, Reciprocating 01-disease-subtype +EFO:1001433 Taeniasis 01-disease-subtype +EFO:1001434 Tendinopathy 02-disease-root +EFO:1001435 tenosynovitis 01-disease-subtype +EFO:1001436 thyroid nodule 02-disease-root +EFO:1001437 Tracheal neoplasm 03-disease-area +EFO:1001438 Trematode Infections 02-disease-root +EFO:1001439 Trilogy of Fallot 04-non-disease +EFO:1001440 Tuberculosis, Avian 04-non-disease +EFO:1001441 Tuberculosis, Bovine 04-non-disease +EFO:1001442 cardiac tuberculosis 01-disease-subtype +EFO:1001443 Tuberculosis, Cutaneous 02-disease-root +EFO:1001444 Tularemia 02-disease-root +EFO:1001445 Tungiasis 02-disease-root +EFO:1001446 Uterine Inversion 02-disease-root +EFO:1001447 Vaginal neoplasm 03-disease-area +EFO:1001448 Ventricular Outflow Obstruction 02-disease-root +EFO:1001449 Vertebrobasilar insufficiency 02-disease-root +EFO:1001450 Wolff-Parkinson-White Syndrome 02-disease-root +EFO:1001451 X-Linked Combined Immunodeficiency Diseases 01-disease-subtype +EFO:1001452 Yellow Nail Syndrome 01-disease-subtype +EFO:1001453 Zoster Sine Herpete 01-disease-subtype +EFO:1001454 amnesia 02-disease-root +EFO:1001455 auditory system disease 03-disease-area +EFO:1001456 central nervous system infection 03-disease-area +EFO:1001457 cognitive disorder 03-disease-area +EFO:1001458 diabetic cardiomyopathy 01-disease-subtype +EFO:1001459 diabetic foot 02-disease-root +EFO:1001460 diverticulitis 02-disease-root +EFO:1001461 endothelial dysfunction 02-disease-root +EFO:1001462 erysipelas 01-disease-subtype +EFO:1001463 gastroenteritis 03-disease-area +EFO:1001465 gliosarcoma 01-disease-subtype +EFO:1001466 Graves ophthalmopathy 01-disease-subtype +EFO:1001467 Hypereosinophilic syndrome 01-disease-subtype +EFO:1001469 Mantle cell lymphoma 02-disease-root +EFO:1001471 Merkel cell skin cancer 02-disease-root +EFO:1001472 Myelitis 02-disease-root +EFO:1001473 Non-familial restrictive cardiomyopathy 02-disease-root +EFO:1001474 pneumococcal pneumonia 01-disease-subtype +EFO:1001475 schistosomiasis 02-disease-root +EFO:1001476 streptococcal infection 02-disease-root +EFO:1001477 Systemic capillary leak syndrome 02-disease-root +EFO:1001478 systemic inflammatory response syndrome 04-non-disease +EFO:1001479 Tumor Lysis Syndrome 02-disease-root +EFO:1001480 metastatic colorectal cancer 01-disease-subtype +EFO:1001481 enterocolitis 02-disease-root +EFO:1001482 cardiotoxicity 01-disease-subtype +EFO:1001483 non-obstructive coronary artery disease 01-disease-subtype +EFO:1001484 pain agnosia 01-disease-subtype +EFO:1001485 acromegaly 02-disease-root +EFO:1001486 primary biliary cirrhosis 02-disease-root +EFO:1001487 secondary biliary cirrhosis 01-disease-subtype +EFO:1001488 influenza A (H1N1) 01-disease-subtype +EFO:1001489 skin and soft tissue Staphylococcus aureus infection 01-disease-subtype +EFO:1001490 late-onset myasthenia gravis 01-disease-subtype +EFO:1001491 abortion 03-disease-area +EFO:1001492 atrophic macular degeneration 01-disease-subtype +EFO:1001493 cardiac embolism 02-disease-root +EFO:1001494 psoriasis vulgaris 01-disease-subtype +EFO:1001495 small artery occlusion 02-disease-root +EFO:1001496 Autosomal dominant polycystic kidney disease 01-disease-subtype +EFO:1001497 cardiac conduction defect 01-disease-subtype +EFO:1001498 disseminated atypical mycobacterial infection 02-disease-root +EFO:1001499 histiocytic medullary reticulosis 02-disease-root +EFO:1001500 intellectual disability with language impairment 04-non-disease +EFO:1001501 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 01-disease-subtype +EFO:1001502 rasopathy 03-disease-area +EFO:1001503 type II diabetes mellitus with acanthosis nigricans 01-disease-subtype +EFO:1001504 small vessel stroke 01-disease-subtype +EFO:1001505 cystic liver disease 02-disease-root +EFO:1001506 primary angle closure glaucoma 01-disease-subtype +EFO:1001507 asparaginase-induced acute pancreatitis 01-disease-subtype +EFO:1001510 specific language impairment 02-disease-root +EFO:1001511 monogenic diabetes 01-disease-subtype +EFO:1001512 endometrial carcinoma 01-disease-subtype +EFO:1001513 liver neoplasm 03-disease-area +EFO:1001514 endometrial endometrioid carcinoma 01-disease-subtype +EFO:1001515 ovarian endometrioid carcinoma 01-disease-subtype +EFO:1001516 ovarian serous carcinoma 01-disease-subtype +EFO:1001517 renal fibrosis 01-disease-subtype +EFO:1001518 heavy metal poisoning 04-non-disease +EFO:1001753 abdominal abscess 02-disease-root +EFO:1001754 Abruptio Placentae 02-disease-root +EFO:1001755 accelerated phase myeloid leukemia 01-disease-subtype +EFO:1001756 Acrodynia 04-non-disease +EFO:1001757 Adenomyosis 02-disease-root +EFO:1001758 ageusia 04-non-disease +EFO:1001759 alcohol amnestic disorder 01-disease-subtype +EFO:1001760 aneurysmal bone cyst 02-disease-root +EFO:1001761 Angiofibroma 01-disease-subtype +EFO:1001762 autonomic dysreflexia 02-disease-root +EFO:1001763 basal cell neoplasm 03-disease-area +EFO:1001764 Birnaviridae Infections 02-disease-root +EFO:1001765 Bovine mastitis 04-non-disease +EFO:1001766 brain hypoxia 04-non-disease +EFO:1001767 brain stem neoplasm 03-disease-area +EFO:1001768 cadmium poisoning 04-non-disease +EFO:1001769 carcinoid heart disease 02-disease-root +EFO:1001770 Carcinoma, Lewis Lung 01-disease-subtype +EFO:1001771 cardiac edema 02-disease-root +EFO:1001772 Central Cord Syndrome 01-disease-subtype +EFO:1001773 Central Nervous System Helminthiasis 02-disease-root +EFO:1001774 central nervous system venous angioma 02-disease-root +EFO:1001775 cerebrospinal fluid otorrhea 02-disease-root +EFO:1001776 Chilaiditi Syndrome 02-disease-root +EFO:1001777 chloracne 02-disease-root +EFO:1001778 chromosome-defective micronuclei 02-disease-root +EFO:1001779 chronic myelomonocytic leukemia 01-disease-subtype +EFO:1001780 Chylothorax 02-disease-root +EFO:1001781 Commotio Cordis 01-disease-subtype +EFO:1001782 dental pulp exposure 02-disease-root +EFO:1001783 desmoplastic fibroma 01-disease-subtype +EFO:1001784 diffuse cutaneous Leishmaniasis 01-disease-subtype +EFO:1001785 diffuse esophageal spasm 02-disease-root +EFO:1001786 erythroplasia 02-disease-root +EFO:1001787 experimental arthritis 04-non-disease +EFO:1001788 Eye Burns 04-non-disease +EFO:1001789 familial apolipoprotein B hypobetalipoproteinemia 01-disease-subtype +EFO:1001790 female athlete triad syndrome 02-disease-root +EFO:1001791 femoral hernia 02-disease-root +EFO:1001792 femoral neck fracture 02-disease-root +EFO:1001793 fetal hypoxia 04-non-disease +EFO:1001794 fetomaternal transfusion 02-disease-root +EFO:1001795 fusariosis 02-disease-root +EFO:1001796 Glomus Jugulare Tumor 02-disease-root +EFO:1001797 Hemoglobin SC Disease 01-disease-subtype +EFO:1001798 immunoproliferative small intestinal disease 02-disease-root +EFO:1001799 incomplete abortion 02-disease-root +EFO:1001800 Intervertebral Disc Displacement 02-disease-root +EFO:1001801 intracranial subdural hematoma 02-disease-root +EFO:1001802 isolated noncompaction of the ventricular myocardium 01-disease-subtype +EFO:1001803 lingual thyroid 02-disease-root +EFO:1001804 Livedo reticularis 02-disease-root +EFO:1001805 lobomycosis 01-disease-subtype +EFO:1001806 macrophage activation syndrome 01-disease-subtype +EFO:1001807 malacoplakia 02-disease-root +EFO:1001808 manganese poisoning 02-disease-root +EFO:1001809 Marchiafava-Bignami Disease 02-disease-root +EFO:1001810 mercury poisoning 02-disease-root +EFO:1001811 Monteggia's fracture 01-disease-subtype +EFO:1001812 myringosclerosis 02-disease-root +EFO:1001813 Nasal Septal Perforation 02-disease-root +EFO:1001814 nephrogenic fibrosing dermopathy 02-disease-root +EFO:1001815 nervous system heavy metal poisoning 03-disease-area +EFO:1001816 neutropenic enterocolitis 01-disease-subtype +EFO:1001817 ocular posterior capsular rupture 02-disease-root +EFO:1001818 oral submucous fibrosis 02-disease-root +EFO:1001819 orbital myositis 01-disease-subtype +EFO:1001820 oroficial granulomatosis 02-disease-root +EFO:1001821 osteoradionecrosis 01-disease-subtype +EFO:1001822 Paroxysmal Hemicrania 01-disease-subtype +EFO:1001823 Periprosthetic Fractures 02-disease-root +EFO:1001824 pinguecula 01-disease-subtype +EFO:1001825 pleurisy 02-disease-root +EFO:1001826 Poroma 02-disease-root +EFO:1001827 post-concussion syndrome 02-disease-root +EFO:1001828 post-exercise hypotension 01-disease-subtype +EFO:1001829 Posterior Leukoencephalopathy Syndrome 02-disease-root +EFO:1001830 precursor T-cell lymphoblastic leukemia-lymphoma 01-disease-subtype +EFO:1001831 pseudolymphoma 02-disease-root +EFO:1001832 Psoas abscess 01-disease-subtype +EFO:1001833 Pubic Symphysis Diastasis 02-disease-root +EFO:1001834 pulmonary aspergillosis 01-disease-subtype +EFO:1001835 pyelocystitis 01-disease-subtype +EFO:1001836 pyogenic liver abscess 01-disease-subtype +EFO:1001837 rectocele 02-disease-root +EFO:1001838 renal nutcracker syndrome 02-disease-root +EFO:1001839 respiratory aspiration 02-disease-root +EFO:1001840 respiratory paralysis 02-disease-root +EFO:1001841 sebaceous of Jadassohn nevus 02-disease-root +EFO:1001842 Serotonin Syndrome 02-disease-root +EFO:1001843 sinoatrial nodal reentry tachycardia 01-disease-subtype +EFO:1001844 skin mastocytoma 02-disease-root +EFO:1001845 spinal cord compression 02-disease-root +EFO:1001846 Spinal Osteophytosis 02-disease-root +EFO:1001847 spinal subdural hematoma 02-disease-root +EFO:1001848 squamous odontogenic tumor 02-disease-root +EFO:1001849 staphylococcal skin infections 03-disease-area +EFO:1001850 stomach diverticulum 02-disease-root +EFO:1001851 stomach rupture 02-disease-root +EFO:1001852 Stomach Volvulus 04-non-disease +EFO:1001853 submandibular gland neoplasm 03-disease-area +EFO:1001854 subphrenic abscess 01-disease-subtype +EFO:1001855 Superior Vena Cava Syndrome 02-disease-root +EFO:1001856 Susac Syndrome 02-disease-root +EFO:1001857 Takayasu arteritis 01-disease-subtype +EFO:1001858 Tarlov Cysts 02-disease-root +EFO:1001859 testicular hydrocele 02-disease-root +EFO:1001860 thymus hyperplasia 02-disease-root +EFO:1001861 traumatic diaphragmatic hernia 04-non-disease +EFO:1001862 urinary bladder fistula 02-disease-root +EFO:1001863 Uterine Inertia 02-disease-root +EFO:1001864 uterine prolapse 01-disease-subtype +EFO:1001865 ventilator-associated pneumonia 01-disease-subtype +EFO:1001866 ventral hernia 01-disease-subtype +EFO:1001867 Zenker diverticulum 02-disease-root +EFO:1001868 congenital contractures of the limbs and face, hypotonia, and developmental delay 02-disease-root +EFO:1001869 dysentery 01-disease-subtype +EFO:1001870 late-onset Alzheimers disease 01-disease-subtype +EFO:1001871 acquired cold urticaria 01-disease-subtype +EFO:1001872 agoraphobia 02-disease-root +EFO:1001873 AIDS phobia 01-disease-subtype +EFO:1001874 amyloidoma 02-disease-root +EFO:1001875 amyloidosis 03-disease-area +EFO:1001876 animal phobia 01-disease-subtype +EFO:1001877 anxiety-like behavior 04-non-disease +EFO:1001878 blood-injection-injury phobia 01-disease-subtype +EFO:1001879 cancerophobia 01-disease-subtype +EFO:1001880 chemotherapy-induced gastrointestinal mucositis 01-disease-subtype +EFO:1001881 cold urticaria 01-disease-subtype +EFO:1001882 cutaneous nodular amyloidosis 01-disease-subtype +EFO:1001883 Dendritic keratitis 01-disease-subtype +EFO:1001884 dental phobia 01-disease-subtype +EFO:1001885 diffuse alveolar-septal amyloidosis 01-disease-subtype +EFO:1001886 Endoplasmic Reticulum Stress 04-non-disease +EFO:1001887 epicondylitis 02-disease-root +EFO:1001888 eye infection 02-disease-root +EFO:1001889 flying phobia 01-disease-subtype +EFO:1001890 food allergy 03-disease-area +EFO:1001891 gastrointestinal mucositis 04-non-disease +EFO:1001892 generalized anxiety disorder 02-disease-root +EFO:1001893 Hand-foot syndrome 02-disease-root +EFO:1001896 lateral epicondylitis 01-disease-subtype +EFO:1001897 Morvan syndrome 01-disease-subtype +EFO:1001898 mucositis 04-non-disease +EFO:1001899 muscular channelopathy 03-disease-area +EFO:1001900 myoclonic epilepsy 01-disease-subtype +EFO:1001901 neuroendocrine neoplasm 03-disease-area +EFO:1001902 neuromuscular disease 03-disease-area +EFO:1001903 nosophobia 01-disease-subtype +EFO:1001904 oral mucositis 04-non-disease +EFO:1001905 Oxidative Stress 04-non-disease +EFO:1001906 panic disorder with agoraphobia 01-disease-subtype +EFO:1001907 panic disorder without agoraphobia 01-disease-subtype +EFO:1001908 phobic disorder 03-disease-area +EFO:1001909 Plantar Fasciitis 04-non-disease +EFO:1001910 pulmonary amyloidosis 01-disease-subtype +EFO:1001911 pulmonary nodular amyloidosis 01-disease-subtype +EFO:1001913 Purpura Fulminans 04-non-disease +EFO:1001914 radiation-induced gastrointestinal mucositis 04-non-disease +EFO:1001916 separation anxiety disorder 02-disease-root +EFO:1001917 social anxiety disorder 02-disease-root +EFO:1001918 specific phobia 02-disease-root +EFO:1001919 Spinal cord injury 02-disease-root +EFO:1001920 stress-induced anxiety-like behavior 04-non-disease +EFO:1001922 tracheobronchial amyloidosis 01-disease-subtype +EFO:1001923 varicose ulcer 04-non-disease +EFO:1001925 pneumococcal bacteremia 01-disease-subtype +EFO:1001926 pathological gambling 01-disease-subtype +EFO:1001927 cutaneous squamous cell carcinoma 01-disease-subtype +EFO:1001928 small intestine neuroendocrine tumor 03-disease-area +EFO:1001929 selective IgA deficiency disease 01-disease-subtype +EFO:1001930 idiopathic osteonecrosis of the femoral head 02-disease-root +EFO:1001931 oropharynx cancer 02-disease-root +EFO:1001932 adult acute megakaryoblastic leukemia 01-disease-subtype +EFO:1001933 adult acute monocytic leukemia 01-disease-subtype +EFO:1001934 adult acute myeloid leukemia 01-disease-subtype +EFO:1001935 adult B acute lymphoblastic leukemia 01-disease-subtype +EFO:1001936 adult T acute lymphoblastic leukemia 01-disease-subtype +EFO:1001937 amelanotic melanoma 01-disease-subtype +EFO:1001938 B-cell non-Hodgkins lymphoma 01-disease-subtype +EFO:1001939 Barrett adenocarcinoma 01-disease-subtype +EFO:1001940 basaloid squamous cell carcinoma 01-disease-subtype +EFO:1001941 bronchioloalveolar carcinoma 01-disease-subtype +EFO:1001942 bronchogenic carcinoma 01-disease-subtype +EFO:1001943 childhood acute megakaryoblastic leukemia 01-disease-subtype +EFO:1001944 childhood acute monocytic leukemia 01-disease-subtype +EFO:1001945 childhood acute myeloid leukemia with maturation 01-disease-subtype +EFO:1001946 childhood B acute lymphoblastic leukemia 01-disease-subtype +EFO:1001947 childhood T acute lymphoblastic leukemia 01-disease-subtype +EFO:1001948 childhood T lymphoblastic lymphoma 01-disease-subtype +EFO:1001949 colon adenocarcinoma 01-disease-subtype +EFO:1001950 colon carcinoma 02-disease-root +EFO:1001951 colorectal carcinoma 03-disease-area +EFO:1001952 endometrial adenosquamous carcinoma 01-disease-subtype +EFO:1001953 endometrial endometrioid adenocarcinoma, variant with squamous differentiation 01-disease-subtype +EFO:1001954 Epstein-Barr virus-related Burkitts lymphoma 01-disease-subtype +EFO:1001955 erythroleukemia 01-disease-subtype +EFO:1001956 gallbladder carcinoma 01-disease-subtype +EFO:1001957 hereditary thyroid gland medullary carcinoma 02-disease-root +EFO:1001958 high grade ovarian serous adenocarcinoma 01-disease-subtype +EFO:1001959 hilar cholangiocarcinoma 01-disease-subtype +EFO:1001960 hypopharyngeal squamous cell carcinoma 01-disease-subtype +EFO:1001961 intrahepatic cholangiocarcinoma 01-disease-subtype +EFO:1001962 ovarian cystadenocarcinoma 01-disease-subtype +EFO:1001963 ovarian mucinous cystadenocarcinoma 01-disease-subtype +EFO:1001964 pancreatic somatostatinoma 02-disease-root +EFO:1001965 pharyngeal squamous cell carcinoma 01-disease-subtype +EFO:1001966 rectosigmoid adenocarcinoma 01-disease-subtype +EFO:1001967 salivary gland squamous cell carcinoma 01-disease-subtype +EFO:1001968 soft tissue sarcoma 03-disease-area +EFO:1001969 squamous cell breast carcinoma, acantholytic variant 01-disease-subtype +EFO:1001970 squamous papilloma 01-disease-subtype +EFO:1001971 thyroid gland sarcoma 02-disease-root +EFO:1001972 undifferentiated pleomorphic sarcoma 01-disease-subtype +EFO:1001973 ureter urothelial carcinoma 01-disease-subtype +EFO:1001974 uterine leiomyosarcoma 01-disease-subtype +EFO:1001975 vulvar leiomyosarcoma 01-disease-subtype +EFO:1001976 cardioembolic stroke 01-disease-subtype +EFO:1001977 3MC syndrome 2 01-disease-subtype +EFO:1001978 3MC syndrome 1 01-disease-subtype +EFO:1001979 Adrenocorticotropic hormone deficiency 01-disease-subtype +EFO:1001980 Alpha-methylacyl-CoA racemase deficiency 01-disease-subtype +EFO:1001981 Aminoacylase 1 deficiency 01-disease-subtype +EFO:1001982 Antisynthetase syndrome 01-disease-subtype +EFO:1001983 Autosomal recessive Charcot Marie Tooth disease type 2X 01-disease-subtype +EFO:1001984 cardiac amyloidosis 02-disease-root +EFO:1001985 congenital fibrosis of the extraocular muscles 02-disease-root +EFO:1001986 connective tissue disease 03-disease-area +EFO:1001987 dropped head syndrome 02-disease-root +EFO:1001988 Juvenile Polymyositis 01-disease-subtype +EFO:1001989 Monomelic amyotrophy 01-disease-subtype +EFO:1001990 ocular motility disease 03-disease-area +EFO:1001991 pneumonitis 03-disease-area +EFO:1001992 Scapuloperoneal spinal muscular atrophy 02-disease-root +EFO:1001993 scleroderma 02-disease-root +EFO:1001994 Scleroderma Polymyositis Overlap Syndrome 01-disease-subtype +EFO:1001995 Sclerodermatomyositis 01-disease-subtype +EFO:1001996 Thalassemia 03-disease-area +EFO:1001998 complex regional pain syndrome 02-disease-root +EFO:1001999 systemic juvenile idiopathic arthritis 01-disease-subtype +EFO:1002000 Takotsubo cardiomyopathy 01-disease-subtype +EFO:1002001 core binding factor acute myeloid leukemia 01-disease-subtype +EFO:1002002 high altitude pulmonary edema 01-disease-subtype +EFO:1002003 hypersensitivity reaction disease 03-disease-area +EFO:1002004 drug hypersensitivity syndrome 03-disease-area +EFO:1002005 lumbar disc herniation 01-disease-subtype +EFO:1002006 treatment-resistant hypertension 01-disease-subtype +EFO:1002008 atypical teratoid rhabdoid tumor 01-disease-subtype +EFO:1002009 macular telangiectasia type 2 02-disease-root +EFO:1002010 TP53 Positive Breast Carcinoma 01-disease-subtype +EFO:1002011 adult onset asthma 01-disease-subtype +EFO:1002012 ligament rupture 02-disease-root +EFO:1002013 alcoholic pancreatitis 01-disease-subtype +EFO:1002014 melancholia 02-disease-root +EFO:1002015 HPV-associated cervical carcinoma 02-disease-root +EFO:1002016 poorly differentiated follicular thyroid carcinoma 01-disease-subtype +EFO:1002017 differentiated thyroid carcinoma 02-disease-root +EFO:1002018 bronchial disease 03-disease-area +EFO:1002019 oligoarticular juvenile idiopathic arthritis 01-disease-subtype +EFO:1002020 polyarticular juvenile idiopathic arthritis, rheumatoid factor negative 01-disease-subtype +EFO:1002021 ankle injury 01-disease-subtype +EFO:1002022 Herpes simplex infection 01-disease-subtype +EFO:1002023 plantar wart 02-disease-root +EFO:1002024 streptococcal pharyngitis 01-disease-subtype +EFO:1002025 measles 01-disease-subtype +EFO:1002026 rubella 02-disease-root +EFO:1002027 osteomalacia 01-disease-subtype +EFO:1002028 cicatricial alopecia 02-disease-root +EFO:1002029 chronic rhinosinusitis with nasal polyps 01-disease-subtype +EFO:1002030 chronic rhinosinusitis without nasal polyps 01-disease-subtype +EFO:1002031 Hodgkins lymphoma, mixed cellularity 01-disease-subtype +EFO:1002034 secondary hypertension 01-disease-subtype +EFO:1002039 renal hypertension 03-disease-area +EFO:1002040 Corneal astigmatism 01-disease-subtype +EFO:1002046 apocrine sweat gland disease 03-disease-area +EFO:1002047 spotted fever 02-disease-root +EFO:1002048 kidney failure 02-disease-root +EFO:1002049 glomerular disease 03-disease-area +EFO:1002050 nephritis 03-disease-area +EFO:1002051 facial nerve disease 03-disease-area +GO:0000003 reproductive process 04-non-disease +GO:0000226 microtubule cytoskeleton organization 04-non-disease +GO:0000278 mitotic cell cycle 04-non-disease +GO:0001775 cell activation 04-non-disease +GO:0002445 type II hypersensitivity 04-non-disease +GO:0002524 hypersensitivity 04-non-disease +GO:0002526 acute inflammatory response 04-non-disease +GO:0002682 regulation of immune system process 04-non-disease +GO:0002694 regulation of leukocyte activation 04-non-disease +GO:0002695 negative regulation of leukocyte activation 04-non-disease +GO:0003008 system process 04-non-disease +GO:0003012 muscle system process 04-non-disease +GO:0003014 renal system process 04-non-disease +GO:0003092 renal water retention 04-non-disease +GO:0005975 carbohydrate metabolic process 04-non-disease +GO:0006139 nucleobase-containing compound metabolic process 04-non-disease +GO:0006163 purine nucleotide metabolic process 04-non-disease +GO:0006164 purine nucleotide biosynthetic process 04-non-disease +GO:0006306 DNA methylation 04-non-disease +GO:0006464 cellular protein modification process 04-non-disease +GO:0006486 protein glycosylation 04-non-disease +GO:0006487 protein N-linked glycosylation 04-non-disease +GO:0006629 lipid metabolic process 04-non-disease +GO:0006725 cellular aromatic compound metabolic process 04-non-disease +GO:0006753 nucleoside phosphate metabolic process 04-non-disease +GO:0006754 ATP biosynthetic process 04-non-disease +GO:0006766 vitamin metabolic process 04-non-disease +GO:0006768 biotin metabolic process 04-non-disease +GO:0006772 thiamine metabolic process 04-non-disease +GO:0006776 vitamin A metabolic process 04-non-disease +GO:0006793 phosphorus metabolic process 04-non-disease +GO:0006796 phosphate-containing compound metabolic process 04-non-disease +GO:0006807 nitrogen compound metabolic process 04-non-disease +GO:0006810 transport 04-non-disease +GO:0006915 apoptotic process 04-non-disease +GO:0006937 regulation of muscle contraction 04-non-disease +GO:0006939 smooth muscle contraction 04-non-disease +GO:0006950 response to stress 04-non-disease +GO:0006954 inflammatory response 04-non-disease +GO:0006970 response to osmotic stress 04-non-disease +GO:0006996 organelle organization 04-non-disease +GO:0007049 cell cycle 04-non-disease +GO:0007051 spindle organization 04-non-disease +GO:0007052 mitotic spindle organization 04-non-disease +GO:0007088 regulation of mitotic nuclear division 04-non-disease +GO:0007154 cell communication 04-non-disease +GO:0007165 signal transduction 04-non-disease +GO:0007417 central nervous system development 04-non-disease +GO:0007420 brain development 04-non-disease +GO:0007568 aging 04-non-disease +GO:0007586 digestion 04-non-disease +GO:0007588 excretion 04-non-disease +GO:0007596 blood coagulation 04-non-disease +GO:0007600 sensory perception 04-non-disease +GO:0007601 visual perception 04-non-disease +GO:0007605 sensory perception of sound 04-non-disease +GO:0007608 sensory perception of smell 04-non-disease +GO:0007610 behavior 04-non-disease +GO:0008016 regulation of heart contraction 04-non-disease +GO:0008104 protein localization 04-non-disease +GO:0008150 biological process 04-non-disease +GO:0008152 metabolic process 04-non-disease +GO:0008219 cell death 04-non-disease +GO:0008283 cell population proliferation 04-non-disease +GO:0008517 folic acid transporter activity 04-non-disease +GO:0009058 biosynthetic process 04-non-disease +GO:0009101 glycoprotein biosynthetic process 04-non-disease +GO:0009116 nucleoside metabolic process 04-non-disease +GO:0009117 nucleotide metabolic process 04-non-disease +GO:0009119 ribonucleoside metabolic process 04-non-disease +GO:0009123 nucleoside monophosphate metabolic process 04-non-disease +GO:0009124 nucleoside monophosphate biosynthetic process 04-non-disease +GO:0009126 purine nucleoside monophosphate metabolic process 04-non-disease +GO:0009127 purine nucleoside monophosphate biosynthetic process 04-non-disease +GO:0009141 nucleoside triphosphate metabolic process 04-non-disease +GO:0009142 nucleoside triphosphate biosynthetic process 04-non-disease +GO:0009144 purine nucleoside triphosphate metabolic process 04-non-disease +GO:0009145 purine nucleoside triphosphate biosynthetic process 04-non-disease +GO:0009150 purine ribonucleotide metabolic process 04-non-disease +GO:0009152 purine ribonucleotide biosynthetic process 04-non-disease +GO:0009156 ribonucleoside monophosphate biosynthetic process 04-non-disease +GO:0009161 ribonucleoside monophosphate metabolic process 04-non-disease +GO:0009163 nucleoside biosynthetic process 04-non-disease +GO:0009165 nucleotide biosynthetic process 04-non-disease +GO:0009167 purine ribonucleoside monophosphate metabolic process 04-non-disease +GO:0009168 purine ribonucleoside monophosphate biosynthetic process 04-non-disease +GO:0009199 ribonucleoside triphosphate metabolic process 04-non-disease +GO:0009201 ribonucleoside triphosphate biosynthetic process 04-non-disease +GO:0009205 purine ribonucleoside triphosphate metabolic process 04-non-disease +GO:0009206 purine ribonucleoside triphosphate biosynthetic process 04-non-disease +GO:0009235 cobalamin metabolic process 04-non-disease +GO:0009259 ribonucleotide metabolic process 04-non-disease +GO:0009260 ribonucleotide biosynthetic process 04-non-disease +GO:0009306 protein secretion 04-non-disease +GO:0009314 response to radiation 04-non-disease +GO:0009408 response to heat 04-non-disease +GO:0009409 response to cold 04-non-disease +GO:0009414 response to water deprivation 04-non-disease +GO:0009415 response to water stimulus 04-non-disease +GO:0009611 response to wounding 04-non-disease +GO:0009615 response to virus 04-non-disease +GO:0009628 response to abiotic stimulus 04-non-disease +GO:0009856 pollination 04-non-disease +GO:0009987 cellular process 04-non-disease +GO:0010226 response to lithium ion 04-non-disease +GO:0010468 regulation of gene expression 04-non-disease +GO:0010543 regulation of platelet activation 04-non-disease +GO:0010876 lipid localization 04-non-disease +GO:0010960 magnesium ion homeostasis 04-non-disease +GO:0014072 response to opiate 04-non-disease +GO:0014831 gastro-intestinal system smooth muscle contraction 04-non-disease +GO:0014848 urinary tract smooth muscle contraction 04-non-disease +GO:0015031 protein transport 04-non-disease +GO:0015884 folic acid transport 04-non-disease +GO:0015939 pantothenate metabolic process 04-non-disease +GO:0016043 cellular component organization 04-non-disease +GO:0016119 carotene metabolic process 04-non-disease +GO:0016246 RNA interference 04-non-disease +GO:0018130 heterocycle biosynthetic process 04-non-disease +GO:0019233 sensory perception of pain 04-non-disease +GO:0019438 aromatic compound biosynthetic process 04-non-disease +GO:0019538 protein metabolic process 04-non-disease +GO:0019637 organophosphate metabolic process 04-non-disease +GO:0019693 ribose phosphate metabolic process 04-non-disease +GO:0022402 cell cycle process 04-non-disease +GO:0023014 signal transduction by phosphorylation 04-non-disease +GO:0030101 natural killer cell activation 04-non-disease +GO:0030155 regulation of cell adhesion 04-non-disease +GO:0030157 pancreatic juice secretion 04-non-disease +GO:0030168 platelet activation 04-non-disease +GO:0030218 erythrocyte differentiation 04-non-disease +GO:0030252 growth hormone secretion 04-non-disease +GO:0030431 sleep 04-non-disease +GO:0031427 response to methotrexate 04-non-disease +GO:0031644 regulation of neurological system process 04-non-disease +GO:0031960 response to corticosteroid 04-non-disease +GO:0032276 regulation of gonadotropin secretion 04-non-disease +GO:0032277 negative regulation of gonadotropin secretion 04-non-disease +GO:0032501 multicellular organismal process 04-non-disease +GO:0032502 developmental process 04-non-disease +GO:0032940 secretion by cell 04-non-disease +GO:0033273 response to vitamin 04-non-disease +GO:0033577 protein glycosylation in endoplasmic reticulum 04-non-disease +GO:0033687 osteoblast proliferation 04-non-disease +GO:0034097 response to cytokine 04-non-disease +GO:0034641 cellular nitrogen compound metabolic process 04-non-disease +GO:0034654 nucleobase-containing compound biosynthetic process 04-non-disease +GO:0035456 response to interferon beta 04-non-disease +GO:0035483 gastric emptying 04-non-disease +GO:0035812 renal sodium excretion 04-non-disease +GO:0035813 regulation of renal sodium excretion 04-non-disease +GO:0035814 negative regulation of renal sodium excretion 04-non-disease +GO:0035815 positive regulation of renal sodium excretion 04-non-disease +GO:0035932 aldosterone secretion 04-non-disease +GO:0036211 protein modification process 04-non-disease +GO:0036270 response to diuretic 04-non-disease +GO:0036271 response to methylphenidate 04-non-disease +GO:0036272 response to gemcitabine 04-non-disease +GO:0036273 response to statin 04-non-disease +GO:0036274 response to lapatinib 04-non-disease +GO:0036275 response to 5' fluorouracil 04-non-disease +GO:0036276 response to antidepressant 04-non-disease +GO:0036277 response to anticonvulsant 04-non-disease +GO:0036287 response to iloperidone 04-non-disease +GO:0036288 response to ximelagatran 04-non-disease +GO:0040012 regulation of locomotion 04-non-disease +GO:0040013 negative regulation of locomotion 04-non-disease +GO:0040017 positive regulation of locomotion 04-non-disease +GO:0042060 wound healing 04-non-disease +GO:0042110 T cell activation 04-non-disease +GO:0042116 macrophage activation 04-non-disease +GO:0042278 purine nucleoside metabolic process 04-non-disease +GO:0042322 negative regulation of circadian sleep/wake cycle, REM sleep 04-non-disease +GO:0042360 vitamin E metabolic process 04-non-disease +GO:0042451 purine nucleoside biosynthetic process 04-non-disease +GO:0042455 ribonucleoside biosynthetic process 04-non-disease +GO:0042476 odontogenesis 04-non-disease +GO:0042493 response to drug 04-non-disease +GO:0042538 hyperosmotic salinity response 04-non-disease +GO:0042592 homeostatic process 04-non-disease +GO:0042593 glucose homeostasis 04-non-disease +GO:0042630 behavioral response to water deprivation 04-non-disease +GO:0042747 circadian sleep/wake cycle, REM sleep 04-non-disease +GO:0042748 circadian sleep/wake cycle, non-REM sleep 04-non-disease +GO:0042752 regulation of circadian rhythm 04-non-disease +GO:0043084 penile erection 04-non-disease +GO:0043170 macromolecule metabolic process 04-non-disease +GO:0043278 response to morphine 04-non-disease +GO:0043400 cortisol secretion 04-non-disease +GO:0043412 macromolecule modification 04-non-disease +GO:0043413 macromolecule glycosylation 04-non-disease +GO:0044057 regulation of system process 04-non-disease +GO:0044058 regulation of digestive system process 04-non-disease +GO:0044062 regulation of excretion 04-non-disease +GO:0044237 cellular metabolic process 04-non-disease +GO:0044238 primary metabolic process 04-non-disease +GO:0044249 cellular biosynthetic process 04-non-disease +GO:0044260 cellular macromolecule metabolic process 04-non-disease +GO:0044267 cellular protein metabolic process 04-non-disease +GO:0044271 cellular nitrogen compound biosynthetic process 04-non-disease +GO:0044403 symbiosis, encompassing mutualism through parasitism 04-non-disease +GO:0044419 interspecies interaction between organisms 04-non-disease +GO:0044691 tooth eruption 04-non-disease +GO:0044699 single-organism process 04-non-disease +GO:0044700 single organism signaling 04-non-disease +GO:0044707 single-multicellular organism process 04-non-disease +GO:0044710 single-organism metabolic process 04-non-disease +GO:0044763 single-organism cellular process 04-non-disease +GO:0044765 single-organism transport 04-non-disease +GO:0044767 single-organism developmental process 04-non-disease +GO:0045184 establishment of protein localization 04-non-disease +GO:0045321 leukocyte activation 04-non-disease +GO:0045822 negative regulation of heart contraction 04-non-disease +GO:0045823 positive regulation of heart contraction 04-non-disease +GO:0045839 negative regulation of mitotic nuclear division 04-non-disease +GO:0046034 ATP metabolic process 04-non-disease +GO:0046128 purine ribonucleoside metabolic process 04-non-disease +GO:0046129 purine ribonucleoside biosynthetic process 04-non-disease +GO:0046390 ribose phosphate biosynthetic process 04-non-disease +GO:0046483 heterocycle metabolic process 04-non-disease +GO:0046655 folic acid metabolic process 04-non-disease +GO:0046677 response to antibiotic 04-non-disease +GO:0046877 regulation of saliva secretion 04-non-disease +GO:0046878 positive regulation of saliva secretion 04-non-disease +GO:0046879 hormone secretion 04-non-disease +GO:0046883 regulation of hormone secretion 04-non-disease +GO:0048103 somatic stem cell division 04-non-disease +GO:0048513 organ development 04-non-disease +GO:0048583 regulation of response to stimulus 04-non-disease +GO:0048731 system development 04-non-disease +GO:0050708 regulation of protein secretion 04-non-disease +GO:0050727 regulation of inflammatory response 04-non-disease +GO:0050728 negative regulation of inflammatory response 04-non-disease +GO:0050729 positive regulation of inflammatory response 04-non-disease +GO:0050777 negative regulation of immune response 04-non-disease +GO:0050789 regulation of biological process 04-non-disease +GO:0050794 regulation of cellular process 04-non-disease +GO:0050865 regulation of cell activation 04-non-disease +GO:0050896 response to stimulus 04-non-disease +GO:0050909 sensory perception of taste 04-non-disease +GO:0050913 sensory perception of bitter taste 04-non-disease +GO:0050916 sensory perception of sweet taste 04-non-disease +GO:0051046 regulation of secretion 04-non-disease +GO:0051180 vitamin transport 04-non-disease +GO:0051181 cofactor transport 04-non-disease +GO:0051186 cofactor metabolic process 04-non-disease +GO:0051234 establishment of localization 04-non-disease +GO:0051301 cell division 04-non-disease +GO:0051384 response to glucocorticoid 04-non-disease +GO:0051641 cellular localization 04-non-disease +GO:0051646 mitochondrion localization 04-non-disease +GO:0051649 establishment of localization in cell 04-non-disease +GO:0051701 interaction with host 04-non-disease +GO:0051716 cellular response to stimulus 04-non-disease +GO:0051726 regulation of cell cycle 04-non-disease +GO:0051930 regulation of sensory perception of pain 04-non-disease +GO:0052047 interaction with other organism via secreted substance involved in symbiotic interaction 04-non-disease +GO:0052048 interaction with host via secreted substance involved in symbiotic interaction 04-non-disease +GO:0055062 phosphate ion homeostasis 04-non-disease +GO:0055069 zinc ion homeostasis 04-non-disease +GO:0055074 calcium ion homeostasis 04-non-disease +GO:0055086 nucleobase-containing small molecule metabolic process 04-non-disease +GO:0060004 reflex 04-non-disease +GO:0060073 micturition 04-non-disease +GO:0060087 relaxation of vascular smooth muscle 04-non-disease +GO:0060278 regulation of ovulation 04-non-disease +GO:0060279 positive regulation of ovulation 04-non-disease +GO:0060453 regulation of gastric acid secretion 04-non-disease +GO:0060454 positive regulation of gastric acid secretion 04-non-disease +GO:0060455 negative regulation of gastric acid secretion 04-non-disease +GO:0061041 regulation of wound healing 04-non-disease +GO:0061042 vascular wound healing 04-non-disease +GO:0061045 negative regulation of wound healing 04-non-disease +GO:0061476 response to anticoagulant 04-non-disease +GO:0061477 response to aromatase inhibitor 04-non-disease +GO:0061478 response to platelet aggregation inhibitor 04-non-disease +GO:0061479 response to reverse transcriptase inhibitor 04-non-disease +GO:0061533 norepinephrine secretion, neurotransmission 04-non-disease +GO:0070085 glycosylation 04-non-disease +GO:0070092 regulation of glucagon secretion 04-non-disease +GO:0070094 positive regulation of glucagon secretion 04-non-disease +GO:0070527 platelet aggregation 04-non-disease +GO:0071214 cellular response to abiotic stimulus 04-non-disease +GO:0071467 cellular response to pH 04-non-disease +GO:0071704 organic substance metabolic process 04-non-disease +GO:0072521 purine-containing compound metabolic process 04-non-disease +GO:0072522 purine-containing compound biosynthetic process 04-non-disease +GO:0072710 response to hydroxyurea 04-non-disease +GO:0072718 response to cisplatin 04-non-disease +GO:0072758 response to topoisomerase inhibitor 04-non-disease +GO:0090257 regulation of muscle system process 04-non-disease +GO:0090330 regulation of platelet aggregation 04-non-disease +GO:0090331 negative regulation of platelet aggregation 04-non-disease +GO:0090407 organophosphate biosynthetic process 04-non-disease +GO:0097327 response to antineoplastic agent 04-non-disease +GO:0097328 response to carboplatin 04-non-disease +GO:0097329 response to antimetabolite 04-non-disease +GO:0097330 response to 5-fluoro-2'-deoxyuridine 04-non-disease +GO:0097331 response to cytarabine 04-non-disease +GO:0097332 response to antipsychotic drug 04-non-disease +GO:0097333 response to olanzapine 04-non-disease +GO:0097334 response to perphenazine 04-non-disease +GO:0097335 response to quetiapine 04-non-disease +GO:0097336 response to risperidone 04-non-disease +GO:0097337 response to ziprasidone 04-non-disease +GO:0097338 response to clozapine 04-non-disease +GO:0097366 response to bronchodilator 04-non-disease +GO:0098900 regulation of action potential 04-non-disease +GO:0098901 regulation of cardiac muscle cell action potential 04-non-disease +GO:0120060 regulation of gastric emptying 04-non-disease +GO:0120061 negative regulation of gastric emptying 04-non-disease +GO:0120062 positive regulation of gastric emptying 04-non-disease +GO:1900133 regulation of renin secretion into blood stream 04-non-disease +GO:1900134 negative regulation of renin secretion into blood stream 04-non-disease +GO:1900135 positive regulation of renin secretion into blood stream 04-non-disease +GO:1901135 carbohydrate derivative metabolic process 04-non-disease +GO:1901137 carbohydrate derivative biosynthetic process 04-non-disease +GO:1901293 nucleoside phosphate biosynthetic process 04-non-disease +GO:1901360 organic cyclic compound metabolic process 04-non-disease +GO:1901362 organic cyclic compound biosynthetic process 04-non-disease +GO:1901554 response to acetaminophen 04-non-disease +GO:1901555 response to paclitaxel 04-non-disease +GO:1901556 response to candesartan 04-non-disease +GO:1901557 response to fenofibrate 04-non-disease +GO:1901558 response to metformin 04-non-disease +GO:1901559 response to ribavirin 04-non-disease +GO:1901563 response to camptothecin 04-non-disease +GO:1901564 organonitrogen compound metabolic process 04-non-disease +GO:1901566 organonitrogen compound biosynthetic process 04-non-disease +GO:1901576 organic substance biosynthetic process 04-non-disease +GO:1901657 glycosyl compound metabolic process 04-non-disease +GO:1901659 glycosyl compound biosynthetic process 04-non-disease +GO:1901731 positive regulation of platelet aggregation 04-non-disease +GO:1901905 response to tamsulosin 04-non-disease +GO:1902518 response to cyclophosphamide 04-non-disease +GO:1902519 response to docetaxel 04-non-disease +GO:1902520 response to doxorubicin 04-non-disease +GO:1902521 response to etoposide 04-non-disease +GO:1902522 response to epirubicin 04-non-disease +GO:1903491 response to simvastatin 04-non-disease +GO:1903492 response to aspirin 04-non-disease +GO:1903493 response to clopidogrel 04-non-disease +GO:1904014 response to serotonin 04-non-disease +GO:1904057 negative regulation of sensory perception of pain 04-non-disease +GO:1904058 positive regulation of sensory perception of pain 04-non-disease +GO:1905119 response to haloperidol 04-non-disease +GO:1905747 negative regulation of saliva secretion 04-non-disease +GO:1990054 response to temozolomide 04-non-disease +GO:1990110 callus formation 04-non-disease +GO:2000292 regulation of defecation 04-non-disease +GO:2000294 positive regulation of defecation 04-non-disease +GO:2000428 regulation of neutrophil aggregation 04-non-disease +HP:0000008 Abnormal morphology of female internal genitalia 04-non-disease +HP:0000011 Neurogenic bladder 01-disease-subtype +HP:0000014 Abnormality of the bladder 04-non-disease +HP:0000015 Bladder diverticulum 04-non-disease +HP:0000016 Urinary retention 04-non-disease +HP:0000019 Urinary hesitancy 04-non-disease +HP:0000020 Urinary incontinence 04-non-disease +HP:0000022 Abnormality of male internal genitalia 04-non-disease +HP:0000023 Inguinal hernia 04-non-disease +HP:0000029 Testicular atrophy 04-non-disease +HP:0000031 Epididymitis 04-non-disease +HP:0000044 Hypogonadotropic hypogonadism 04-non-disease +HP:0000046 Small scrotum 04-non-disease +HP:0000054 Micropenis 04-non-disease +HP:0000059 Hypoplastic labia majora 04-non-disease +HP:0000062 Ambiguous genitalia 04-non-disease +HP:0000069 Abnormality of the ureter 04-non-disease +HP:0000072 Hydroureter 04-non-disease +HP:0000077 Abnormality of the kidney 04-non-disease +HP:0000078 Abnormality of the genital system 04-non-disease +HP:0000079 Abnormality of the urinary system 04-non-disease +HP:0000083 Renal insufficiency 04-non-disease +HP:0000085 Horseshoe kidney 04-non-disease +HP:0000093 Proteinuria 04-non-disease +HP:0000098 Tall stature 04-non-disease +HP:0000103 Polyuria 04-non-disease +HP:0000107 Renal cyst 04-non-disease +HP:0000111 Renal juxtaglomerular cell hypertrophy/hyperplasia 04-non-disease +HP:0000112 Nephropathy 04-non-disease +HP:0000118 Phenotypic abnormality 04-non-disease +HP:0000121 Nephrocalcinosis 04-non-disease +HP:0000125 Pelvic kidney 04-non-disease +HP:0000130 Abnormality of the uterus 04-non-disease +HP:0000131 Uterine leiomyoma 04-non-disease +HP:0000132 Menorrhagia 04-non-disease +HP:0000138 Ovarian cyst 04-non-disease +HP:0000152 Abnormality of head or neck 04-non-disease +HP:0000153 Abnormality of the mouth 04-non-disease +HP:0000154 Wide mouth 04-non-disease +HP:0000155 Oral ulcer 04-non-disease +HP:0000157 Abnormality of the tongue 04-non-disease +HP:0000160 Narrow mouth 04-non-disease +HP:0000161 Median cleft lip 04-non-disease +HP:0000164 Abnormality of the dentition 04-non-disease +HP:0000171 Microglossia 04-non-disease +HP:0000175 Cleft palate 04-non-disease +HP:0000179 Thick lower lip vermilion 04-non-disease +HP:0000194 Open mouth 04-non-disease +HP:0000200 Short lingual frenulum 04-non-disease +HP:0000201 Pierre-Robin sequence 04-non-disease +HP:0000202 Oral cleft 04-non-disease +HP:0000204 Cleft upper lip 04-non-disease +HP:0000218 High palate 04-non-disease +HP:0000219 Thin upper lip vermilion 04-non-disease +HP:0000220 Velopharyngeal insufficiency 04-non-disease +HP:0000223 Abnormality of taste sensation 04-non-disease +HP:0000225 Gingival bleeding 04-non-disease +HP:0000233 Thin vermilion border 04-non-disease +HP:0000234 Abnormality of the head 04-non-disease +HP:0000236 Abnormality of the anterior fontanelle 04-non-disease +HP:0000238 Hydrocephalus 04-non-disease +HP:0000248 Brachycephaly 04-non-disease +HP:0000252 Microcephaly 04-non-disease +HP:0000256 Macrocephaly 04-non-disease +HP:0000260 Wide anterior fontanel 04-non-disease +HP:0000263 Oxycephaly 04-non-disease +HP:0000264 Abnormality of the mastoid 04-non-disease +HP:0000265 Mastoiditis 04-non-disease +HP:0000268 Dolichocephaly 04-non-disease +HP:0000269 Prominent occiput 04-non-disease +HP:0000271 Abnormality of the face 04-non-disease +HP:0000272 Malar flattening 04-non-disease +HP:0000276 Long face 04-non-disease +HP:0000277 Abnormal mandible morphology 04-non-disease +HP:0000278 Retrognathia 04-non-disease +HP:0000280 Coarse facial features 04-non-disease +HP:0000282 Facial edema 04-non-disease +HP:0000283 Broad face 04-non-disease +HP:0000286 Epicanthus 04-non-disease +HP:0000294 Low anterior hairline 04-non-disease +HP:0000303 Mandibular prognathia 04-non-disease +HP:0000307 Pointed chin 04-non-disease +HP:0000308 Microretrognathia 04-non-disease +HP:0000311 Round face 04-non-disease +HP:0000316 Hypertelorism 04-non-disease +HP:0000319 Smooth philtrum 04-non-disease +HP:0000322 Short philtrum 04-non-disease +HP:0000325 Triangular face 04-non-disease +HP:0000327 Hypoplasia of the maxilla 04-non-disease +HP:0000331 Short chin 04-non-disease +HP:0000337 Broad forehead 04-non-disease +HP:0000341 Narrow forehead 04-non-disease +HP:0000343 Long philtrum 04-non-disease +HP:0000347 Micrognathia 04-non-disease +HP:0000348 High forehead 04-non-disease +HP:0000356 Abnormality of the outer ear 04-non-disease +HP:0000358 Posteriorly rotated ears 04-non-disease +HP:0000359 Abnormality of the inner ear 04-non-disease +HP:0000360 Tinnitus 04-non-disease +HP:0000363 Abnormal earlobe morphology 04-non-disease +HP:0000364 Hearing abnormality 04-non-disease +HP:0000366 Abnormality of the nose 04-non-disease +HP:0000368 Low-set, posteriorly rotated ears 04-non-disease +HP:0000369 Low-set ears 04-non-disease +HP:0000376 Incomplete partition of the cochlea type II 04-non-disease +HP:0000377 Abnormality of the pinna 04-non-disease +HP:0000384 Preauricular skin tag 04-non-disease +HP:0000391 Thickened helices 04-non-disease +HP:0000396 Overfolded helix 04-non-disease +HP:0000399 Prelingual sensorineural hearing impairment 04-non-disease +HP:0000400 Macrotia 04-non-disease +HP:0000402 Stenosis of the external auditory canal 04-non-disease +HP:0000405 Conductive hearing impairment 04-non-disease +HP:0000407 Sensorineural hearing impairment 04-non-disease +HP:0000408 Progressive sensorineural hearing impairment 04-non-disease +HP:0000411 Protruding ear 04-non-disease +HP:0000413 Atresia of the external auditory canal 04-non-disease +HP:0000414 Bulbous nose 04-non-disease +HP:0000426 Prominent nasal bridge 04-non-disease +HP:0000430 Underdeveloped nasal alae 04-non-disease +HP:0000431 Wide nasal bridge 04-non-disease +HP:0000444 Convex nasal ridge 04-non-disease +HP:0000445 Wide nose 04-non-disease +HP:0000446 Narrow nasal bridge 04-non-disease +HP:0000447 Pear-shaped nose 04-non-disease +HP:0000448 Prominent nose 04-non-disease +HP:0000455 Broad nasal tip 04-non-disease +HP:0000460 Narrow nose 04-non-disease +HP:0000463 Anteverted nares 04-non-disease +HP:0000464 Abnormality of the neck 04-non-disease +HP:0000465 Webbed neck 04-non-disease +HP:0000470 Short neck 04-non-disease +HP:0000471 Gastrointestinal angiodysplasia 04-non-disease +HP:0000473 Torticollis 04-non-disease +HP:0000474 Thickened nuchal skin fold 04-non-disease +HP:0000478 Abnormality of the eye 04-non-disease +HP:0000479 Abnormal retinal morphology 04-non-disease +HP:0000481 Abnormal cornea morphology 04-non-disease +HP:0000483 Astigmatism 04-non-disease +HP:0000485 Megalocornea 04-non-disease +HP:0000486 Strabismus 04-non-disease +HP:0000490 Deeply set eye 04-non-disease +HP:0000494 Downslanted palpebral fissures 04-non-disease +HP:0000504 Abnormality of vision 04-non-disease +HP:0000505 Visual impairment 04-non-disease +HP:0000512 Abnormal electroretinogram 04-non-disease +HP:0000517 Abnormality of the lens 04-non-disease +HP:0000519 Developmental cataract 04-non-disease +HP:0000520 Proptosis 04-non-disease +HP:0000527 Long eyelashes 04-non-disease +HP:0000528 Anophthalmia 04-non-disease +HP:0000529 Progressive visual loss 04-non-disease +HP:0000535 Sparse and thin eyebrow 04-non-disease +HP:0000539 Abnormality of refraction 04-non-disease +HP:0000540 Hypermetropia 04-non-disease +HP:0000544 External ophthalmoplegia 04-non-disease +HP:0000545 Myopia 04-non-disease +HP:0000549 Abnormal conjugate eye movement 04-non-disease +HP:0000559 Corneal scarring 04-non-disease +HP:0000565 Esotropia 04-non-disease +HP:0000572 Visual loss 04-non-disease +HP:0000573 Retinal hemorrhage 04-non-disease +HP:0000577 Exotropia 04-non-disease +HP:0000580 Pigmentary retinopathy 04-non-disease +HP:0000581 Blepharophimosis 04-non-disease +HP:0000582 Upslanted palpebral fissure 04-non-disease +HP:0000598 Abnormality of the ear 04-non-disease +HP:0000603 Central scotoma 04-non-disease +HP:0000610 Abnormal choroid morphology 04-non-disease +HP:0000614 Abnormal nasolacrimal system morphology 04-non-disease +HP:0000616 Miosis 04-non-disease +HP:0000618 Blindness 04-non-disease +HP:0000622 Blurred vision 04-non-disease +HP:0000629 Periorbital fullness 04-non-disease +HP:0000632 Lacrimation abnormality 04-non-disease +HP:0000639 Nystagmus 04-non-disease +HP:0000649 Abnormality of visual evoked potentials 04-non-disease +HP:0000651 Diplopia 04-non-disease +HP:0000664 Synophrys 04-non-disease +HP:0000666 Horizontal nystagmus 04-non-disease +HP:0000678 Dental crowding 04-non-disease +HP:0000680 Delayed eruption of primary teeth 04-non-disease +HP:0000682 Abnormal dental enamel morphology 04-non-disease +HP:0000689 Dental malocclusion 04-non-disease +HP:0000690 Agenesis of maxillary lateral incisor 04-non-disease +HP:0000699 Diastema 04-non-disease +HP:0000707 Abnormality of the nervous system 04-non-disease +HP:0000708 Behavioral abnormality 04-non-disease +HP:0000712 Emotional lability 04-non-disease +HP:0000713 Agitation 04-non-disease +HP:0000720 Mood swings 04-non-disease +HP:0000725 Psychotic episodes 04-non-disease +HP:0000726 Dementia 04-non-disease +HP:0000732 Inflexible adherence to routines or rituals 04-non-disease +HP:0000733 Motor stereotypy 04-non-disease +HP:0000735 Impaired social interactions 04-non-disease +HP:0000736 Short attention span 04-non-disease +HP:0000737 Irritability 04-non-disease +HP:0000738 Hallucinations 04-non-disease +HP:0000746 Delusions 04-non-disease +HP:0000750 Delayed speech and language development 04-non-disease +HP:0000751 Personality changes 04-non-disease +HP:0000753 Autism with high cognitive abilities 04-non-disease +HP:0000758 Abnormal nonverbal communicative behavior 04-non-disease +HP:0000762 Decreased nerve conduction velocity 04-non-disease +HP:0000763 Sensory neuropathy 04-non-disease +HP:0000765 Abnormal thorax morphology 04-non-disease +HP:0000766 Abnormal sternum morphology 04-non-disease +HP:0000767 Pectus excavatum 04-non-disease +HP:0000768 Pectus carinatum 04-non-disease +HP:0000769 Abnormality of the breast 04-non-disease +HP:0000771 Gynecomastia 04-non-disease +HP:0000774 Narrow chest 04-non-disease +HP:0000775 Abnormality of the diaphragm 04-non-disease +HP:0000786 Primary amenorrhea 04-non-disease +HP:0000790 Hematuria 04-non-disease +HP:0000800 Cystic renal dysplasia 04-non-disease +HP:0000802 Impotence 04-non-disease +HP:0000803 Renal cortical cysts 04-non-disease +HP:0000815 Hypergonadotropic hypogonadism 04-non-disease +HP:0000817 Poor eye contact 04-non-disease +HP:0000818 Abnormality of the endocrine system 04-non-disease +HP:0000820 Abnormality of the thyroid gland 04-non-disease +HP:0000823 Delayed puberty 04-non-disease +HP:0000824 Decreased response to growth hormone stimulation test 04-non-disease +HP:0000834 Abnormality of the adrenal glands 04-non-disease +HP:0000842 Hyperinsulinemia 04-non-disease +HP:0000857 Neonatal insulin-dependent diabetes mellitus 01-disease-subtype +HP:0000863 Central diabetes insipidus 04-non-disease +HP:0000876 Oligomenorrhea 04-non-disease +HP:0000892 Bifid ribs 04-non-disease +HP:0000902 Rib fusion 04-non-disease +HP:0000921 Missing ribs 04-non-disease +HP:0000924 Abnormality of the skeletal system 04-non-disease +HP:0000925 Abnormality of the vertebral column 04-non-disease +HP:0000929 Abnormal skull morphology 04-non-disease +HP:0000932 Abnormal posterior cranial fossa morphology 04-non-disease +HP:0000934 Chondrocalcinosis 04-non-disease +HP:0000938 Osteopenia 04-non-disease +HP:0000951 Abnormality of the skin 04-non-disease +HP:0000952 Jaundice 04-non-disease +HP:0000954 Single transverse palmar crease 04-non-disease +HP:0000957 Cafe-au-lait spot 04-non-disease +HP:0000958 Dry skin 04-non-disease +HP:0000960 Sacral dimple 04-non-disease +HP:0000964 Eczema 04-non-disease +HP:0000974 Hyperextensible skin 04-non-disease +HP:0000975 Hyperhidrosis 04-non-disease +HP:0000978 Bruising susceptibility 04-non-disease +HP:0000979 Purpura 04-non-disease +HP:0000980 Pallor 04-non-disease +HP:0000989 Pruritus 04-non-disease +HP:0000997 Axillary freckling 04-non-disease +HP:0000999 Pyoderma 04-non-disease +HP:0001007 Hirsutism 04-non-disease +HP:0001010 Hypopigmentation of the skin 04-non-disease +HP:0001026 Penetrating foot ulcers 04-non-disease +HP:0001030 Fragile skin 04-non-disease +HP:0001065 Striae distensae 04-non-disease +HP:0001071 Angiokeratoma corporis diffusum 04-non-disease +HP:0001072 Thickened skin 04-non-disease +HP:0001075 Atrophic scars 04-non-disease +HP:0001082 Cholecystitis 04-non-disease +HP:0001094 Iridocyclitis 04-non-disease +HP:0001100 Heterochromia iridis 04-non-disease +HP:0001103 Abnormal macular morphology 04-non-disease +HP:0001105 Retinal atrophy 04-non-disease +HP:0001106 Periorbital hyperpigmentation 04-non-disease +HP:0001123 Visual field defect 04-non-disease +HP:0001128 Trichiasis 04-non-disease +HP:0001132 Lens subluxation 04-non-disease +HP:0001162 Postaxial hand polydactyly 04-non-disease +HP:0001167 Abnormality of finger 04-non-disease +HP:0001172 Abnormal thumb morphology 04-non-disease +HP:0001176 Large hands 04-non-disease +HP:0001182 Tapered finger 04-non-disease +HP:0001195 Single umbilical artery 04-non-disease +HP:0001197 Abnormality of prenatal development or birth 04-non-disease +HP:0001249 Intellectual disability 04-non-disease +HP:0001250 Seizure 04-non-disease +HP:0001251 Ataxia 04-non-disease +HP:0001252 Hypotonia 04-non-disease +HP:0001256 Intellectual disability, mild 04-non-disease +HP:0001257 Spasticity 04-non-disease +HP:0001258 Spastic paraplegia 04-non-disease +HP:0001259 Coma 04-non-disease +HP:0001260 Dysarthria 04-non-disease +HP:0001263 Global developmental delay 04-non-disease +HP:0001265 Hyporeflexia 04-non-disease +HP:0001266 Choreoathetosis 04-non-disease +HP:0001268 Mental deterioration 04-non-disease +HP:0001269 Hemiparesis 04-non-disease +HP:0001270 Motor delay 04-non-disease +HP:0001272 Cerebellar atrophy 04-non-disease +HP:0001273 Abnormal corpus callosum morphology 04-non-disease +HP:0001274 Agenesis of corpus callosum 04-non-disease +HP:0001276 Hypertonia 04-non-disease +HP:0001279 Syncope 04-non-disease +HP:0001281 Tetany 04-non-disease +HP:0001288 Gait disturbance 04-non-disease +HP:0001290 Generalized hypotonia 04-non-disease +HP:0001298 Encephalopathy 04-non-disease +HP:0001300 Parkinsonism 04-non-disease +HP:0001302 Pachygyria 04-non-disease +HP:0001304 Torsion dystonia 04-non-disease +HP:0001310 Dysmetria 04-non-disease +HP:0001315 Reduced tendon reflexes 04-non-disease +HP:0001319 Neonatal hypotonia 04-non-disease +HP:0001320 Cerebellar vermis hypoplasia 04-non-disease +HP:0001321 Cerebellar hypoplasia 04-non-disease +HP:0001324 Muscle weakness 04-non-disease +HP:0001325 Hypoglycemic coma 04-non-disease +HP:0001328 Specific learning disability 04-non-disease +HP:0001332 Dystonia 04-non-disease +HP:0001336 Myoclonus 04-non-disease +HP:0001337 Tremor 04-non-disease +HP:0001338 Partial agenesis of the corpus callosum 04-non-disease +HP:0001344 Absent speech 04-non-disease +HP:0001347 Hyperreflexia 04-non-disease +HP:0001348 Brisk reflexes 04-non-disease +HP:0001350 Slurred speech 04-non-disease +HP:0001357 Plagiocephaly 04-non-disease +HP:0001371 Flexion contracture 04-non-disease +HP:0001373 Joint dislocation 04-non-disease +HP:0001382 Joint hypermobility 04-non-disease +HP:0001385 Hip dysplasia 04-non-disease +HP:0001386 Joint swelling 04-non-disease +HP:0001387 Joint stiffness 04-non-disease +HP:0001388 Joint laxity 04-non-disease +HP:0001392 Abnormality of the liver 04-non-disease +HP:0001395 Hepatic fibrosis 04-non-disease +HP:0001397 Hepatic steatosis 04-non-disease +HP:0001399 Hepatic failure 04-non-disease +HP:0001405 Periportal fibrosis 04-non-disease +HP:0001407 Hepatic cysts 04-non-disease +HP:0001410 Decreased liver function 04-non-disease +HP:0001438 Abnormal abdomen morphology 04-non-disease +HP:0001476 Delayed closure of the anterior fontanelle 04-non-disease +HP:0001482 Subcutaneous nodule 04-non-disease +HP:0001495 Carpal osteolysis 04-non-disease +HP:0001507 Growth abnormality 04-non-disease +HP:0001508 Failure to thrive 04-non-disease +HP:0001510 Growth delay 04-non-disease +HP:0001518 Small for gestational age 04-non-disease +HP:0001520 Large for gestational age 04-non-disease +HP:0001522 Death in infancy 04-non-disease +HP:0001525 Severe failure to thrive 04-non-disease +HP:0001537 Umbilical hernia 04-non-disease +HP:0001541 Ascites 04-non-disease +HP:0001548 Overgrowth 04-non-disease +HP:0001555 Asymmetry of the thorax 04-non-disease +HP:0001558 Decreased fetal movement 04-non-disease +HP:0001560 Abnormality of the amniotic fluid 04-non-disease +HP:0001561 Polyhydramnios 04-non-disease +HP:0001574 Abnormality of the integument 04-non-disease +HP:0001583 Rotary nystagmus 04-non-disease +HP:0001591 Bell-shaped thorax 04-non-disease +HP:0001597 Abnormality of the nail 04-non-disease +HP:0001600 Abnormality of the larynx 04-non-disease +HP:0001601 Laryngomalacia 04-non-disease +HP:0001605 Vocal cord paralysis 04-non-disease +HP:0001611 Nasal speech 04-non-disease +HP:0001620 High pitched voice 04-non-disease +HP:0001623 Breech presentation 04-non-disease +HP:0001626 Abnormality of the cardiovascular system 04-non-disease +HP:0001627 Abnormal heart morphology 04-non-disease +HP:0001634 Mitral valve prolapse 01-disease-subtype +HP:0001636 Tetralogy of Fallot 04-non-disease +HP:0001642 Pulmonic stenosis 04-non-disease +HP:0001643 Patent ductus arteriosus 04-non-disease +HP:0001647 Bicuspid aortic valve 04-non-disease +HP:0001649 Tachycardia 04-non-disease +HP:0001651 Dextrocardia 04-non-disease +HP:0001653 Mitral regurgitation 04-non-disease +HP:0001655 Patent foramen ovale 04-non-disease +HP:0001657 Prolonged QT interval 04-non-disease +HP:0001660 Truncus arteriosus 04-non-disease +HP:0001662 Bradycardia 04-non-disease +HP:0001667 Right ventricular hypertrophy 04-non-disease +HP:0001671 Abnormal cardiac septum morphology 04-non-disease +HP:0001679 Abnormal aortic morphology 04-non-disease +HP:0001684 Secundum atrial septal defect 04-non-disease +HP:0001685 Myocardial fibrosis 04-non-disease +HP:0001693 Cardiac shunt 04-non-disease +HP:0001699 Sudden death 04-non-disease +HP:0001710 Conotruncal defect 04-non-disease +HP:0001730 Progressive hearing impairment 04-non-disease +HP:0001737 Pancreatic cysts 04-non-disease +HP:0001742 Nasal congestion 04-non-disease +HP:0001744 Splenomegaly 04-non-disease +HP:0001760 Abnormal foot morphology 04-non-disease +HP:0001761 Pes cavus 04-non-disease +HP:0001762 Talipes equinovarus 04-non-disease +HP:0001769 Broad foot 04-non-disease +HP:0001770 Toe syndactyly 04-non-disease +HP:0001771 Achilles tendon contracture 04-non-disease +HP:0001773 Short foot 04-non-disease +HP:0001776 Bilateral talipes equinovarus 04-non-disease +HP:0001780 Abnormality of toe 04-non-disease +HP:0001787 Abnormal delivery 04-non-disease +HP:0001788 Premature rupture of membranes 04-non-disease +HP:0001798 Anonychia 04-non-disease +HP:0001800 Hypoplastic toenails 04-non-disease +HP:0001822 Hallux valgus 04-non-disease +HP:0001824 Weight loss 04-non-disease +HP:0001830 Postaxial foot polydactyly 04-non-disease +HP:0001831 Short toe 04-non-disease +HP:0001838 Rocker bottom foot 04-non-disease +HP:0001840 Metatarsus adductus 04-non-disease +HP:0001845 Overlapping toe 04-non-disease +HP:0001848 Calcaneovalgus deformity 04-non-disease +HP:0001863 Toe clinodactyly 04-non-disease +HP:0001864 Clinodactyly of the 5th toe 04-non-disease +HP:0001869 Deep plantar creases 04-non-disease +HP:0001871 Abnormality of blood and blood-forming tissues 04-non-disease +HP:0001873 Thrombocytopenia 04-non-disease +HP:0001876 Pancytopenia 04-non-disease +HP:0001877 Abnormal erythrocyte morphology 04-non-disease +HP:0001880 Eosinophilia 04-non-disease +HP:0001881 Abnormal leukocyte morphology 04-non-disease +HP:0001883 Talipes 04-non-disease +HP:0001891 Iron deficiency anemia 04-non-disease +HP:0001892 Abnormal bleeding 04-non-disease +HP:0001898 Increased red blood cell mass 04-non-disease +HP:0001907 Thromboembolism 04-non-disease +HP:0001913 Granulocytopenia 04-non-disease +HP:0001915 Aplastic anemia 04-non-disease +HP:0001917 Renal amyloidosis 04-non-disease +HP:0001919 Acute kidney injury 04-non-disease +HP:0001928 Abnormality of coagulation 04-non-disease +HP:0001933 Subcutaneous hemorrhage 04-non-disease +HP:0001939 Abnormality of metabolism/homeostasis 04-non-disease +HP:0001942 Metabolic acidosis 04-non-disease +HP:0001943 Hypoglycemia 04-non-disease +HP:0001945 Fever 04-non-disease +HP:0001948 Alkalosis 04-non-disease +HP:0001952 Glucose intolerance 04-non-disease +HP:0001956 Truncal obesity 01-disease-subtype +HP:0001959 Polydipsia 04-non-disease +HP:0001962 Palpitations 04-non-disease +HP:0001967 Diffuse mesangial sclerosis 04-non-disease +HP:0001974 Leukocytosis 04-non-disease +HP:0001976 Reduced antithrombin III activity 04-non-disease +HP:0001977 Abnormal thrombosis 04-non-disease +HP:0001985 Hypoketotic hypoglycemia 04-non-disease +HP:0001987 Hyperammonemia 04-non-disease +HP:0001998 Neonatal hypoglycemia 04-non-disease +HP:0001999 Abnormal facial shape 04-non-disease +HP:0002000 Short columella 04-non-disease +HP:0002002 Deep philtrum 04-non-disease +HP:0002007 Frontal bossing 04-non-disease +HP:0002011 Morphological central nervous system abnormality 04-non-disease +HP:0002012 Abnormality of the abdominal organs 04-non-disease +HP:0002013 Vomiting 04-non-disease +HP:0002014 Diarrhea 04-non-disease +HP:0002015 Dysphagia 04-non-disease +HP:0002017 Nausea and vomiting 04-non-disease +HP:0002018 Nausea 04-non-disease +HP:0002019 Constipation 04-non-disease +HP:0002024 Malabsorption 04-non-disease +HP:0002027 Abdominal pain 04-non-disease +HP:0002028 Chronic diarrhea 04-non-disease +HP:0002031 Abnormal esophagus morphology 04-non-disease +HP:0002032 Esophageal atresia 04-non-disease +HP:0002033 Poor suck 04-non-disease +HP:0002034 Abnormal rectum morphology 04-non-disease +HP:0002035 Rectal prolapse 04-non-disease +HP:0002036 Hiatus hernia 04-non-disease +HP:0002037 Inflammation of the large intestine 04-non-disease +HP:0002039 Anorexia 04-non-disease +HP:0002043 Esophageal stricture 01-disease-subtype +HP:0002045 Hypothermia 04-non-disease +HP:0002059 Cerebral atrophy 04-non-disease +HP:0002061 Lower limb spasticity 04-non-disease +HP:0002063 Rigidity 04-non-disease +HP:0002066 Gait ataxia 04-non-disease +HP:0002068 Neuromuscular dysphagia 04-non-disease +HP:0002069 Bilateral tonic-clonic seizure 04-non-disease +HP:0002075 Dysdiadochokinesis 04-non-disease +HP:0002079 Hypoplasia of the corpus callosum 04-non-disease +HP:0002080 Intention tremor 04-non-disease +HP:0002086 Abnormality of the respiratory system 04-non-disease +HP:0002088 Abnormal lung morphology 04-non-disease +HP:0002089 Pulmonary hypoplasia 04-non-disease +HP:0002091 Restrictive ventilatory defect 04-non-disease +HP:0002093 Respiratory insufficiency 04-non-disease +HP:0002094 Dyspnea 04-non-disease +HP:0002104 Apnea 04-non-disease +HP:0002105 Hemoptysis 04-non-disease +HP:0002107 Pneumothorax 04-non-disease +HP:0002108 Spontaneous pneumothorax 04-non-disease +HP:0002110 Bronchiectasis 04-non-disease +HP:0002119 Ventriculomegaly 04-non-disease +HP:0002120 Cerebral cortical atrophy 04-non-disease +HP:0002121 Generalized non-motor (absence) seizure 04-non-disease +HP:0002123 Generalized myoclonic seizure 04-non-disease +HP:0002127 Abnormal upper motor neuron morphology 04-non-disease +HP:0002134 Abnormality of the basal ganglia 04-non-disease +HP:0002135 Basal ganglia calcification 04-non-disease +HP:0002136 Broad-based gait 04-non-disease +HP:0002140 Ischemic stroke 04-non-disease +HP:0002141 Gait imbalance 04-non-disease +HP:0002144 Tethered cord 04-non-disease +HP:0002148 Hypophosphatemia 04-non-disease +HP:0002153 Hyperkalemia 04-non-disease +HP:0002162 Low posterior hairline 04-non-disease +HP:0002164 Nail dysplasia 04-non-disease +HP:0002165 Pterygium of nails 04-non-disease +HP:0002166 Impaired vibration sensation in the lower limbs 04-non-disease +HP:0002167 Neurological speech impairment 04-non-disease +HP:0002169 Clonus 04-non-disease +HP:0002171 Gliosis 04-non-disease +HP:0002172 Postural instability 04-non-disease +HP:0002180 Neurodegeneration 04-non-disease +HP:0002194 Delayed gross motor development 04-non-disease +HP:0002196 Myelopathy 04-non-disease +HP:0002205 Recurrent respiratory infections 04-non-disease +HP:0002208 Coarse hair 04-non-disease +HP:0002221 Absent axillary hair 04-non-disease +HP:0002236 Frontal upsweep of hair 04-non-disease +HP:0002239 Gastrointestinal hemorrhage 04-non-disease +HP:0002240 Hepatomegaly 04-non-disease +HP:0002242 Abnormal intestine morphology 04-non-disease +HP:0002243 Protein-losing enteropathy 04-non-disease +HP:0002248 Hematemesis 04-non-disease +HP:0002250 Abnormal large intestine morphology 04-non-disease +HP:0002251 Aganglionic megacolon 04-non-disease +HP:0002253 Colonic diverticula 04-non-disease +HP:0002267 Exaggerated startle response 04-non-disease +HP:0002269 Abnormality of neuronal migration 04-non-disease +HP:0002275 Poor motor coordination 04-non-disease +HP:0002280 Enlarged cisterna magna 04-non-disease +HP:0002282 Gray matter heterotopia 04-non-disease +HP:0002283 Global brain atrophy 04-non-disease +HP:0002290 Poliosis 04-non-disease +HP:0002293 Alopecia of scalp 04-non-disease +HP:0002300 Mutism 04-non-disease +HP:0002304 Akinesia 04-non-disease +HP:0002307 Drooling 04-non-disease +HP:0002313 Spastic paraparesis 04-non-disease +HP:0002315 Headache 04-non-disease +HP:0002317 Unsteady gait 04-non-disease +HP:0002321 Vertigo 04-non-disease +HP:0002335 Agenesis of cerebellar vermis 04-non-disease +HP:0002342 Intellectual disability, moderate 04-non-disease +HP:0002344 Progressive neurologic deterioration 04-non-disease +HP:0002350 Cerebellar cyst 04-non-disease +HP:0002352 Leukoencephalopathy 04-non-disease +HP:0002353 EEG abnormality 04-non-disease +HP:0002355 Difficulty walking 04-non-disease +HP:0002370 Poor coordination 04-non-disease +HP:0002373 Febrile seizure (within the age range of 3 months to 6 years) 04-non-disease +HP:0002376 Developmental regression 04-non-disease +HP:0002378 Hand tremor 04-non-disease +HP:0002381 Aphasia 04-non-disease +HP:0002384 Focal impaired awareness seizure 04-non-disease +HP:0002385 Paraparesis 04-non-disease +HP:0002395 Lower limb hyperreflexia 04-non-disease +HP:0002411 Myokymia 04-non-disease +HP:0002419 Molar tooth sign on MRI 04-non-disease +HP:0002438 Cerebellar malformation 04-non-disease +HP:0002442 Dyscalculia 04-non-disease +HP:0002448 Progressive encephalopathy 04-non-disease +HP:0002460 Distal muscle weakness 04-non-disease +HP:0002465 Poor speech 04-non-disease +HP:0002474 Expressive language delay 04-non-disease +HP:0002500 Abnormal cerebral white matter morphology 04-non-disease +HP:0002508 Brainstem dysplasia 04-non-disease +HP:0002509 Limb hypertonia 04-non-disease +HP:0002510 Spastic tetraplegia 04-non-disease +HP:0002514 Cerebral calcification 04-non-disease +HP:0002515 Waddling gait 04-non-disease +HP:0002536 Abnormal cortical gyration 04-non-disease +HP:0002540 Inability to walk 04-non-disease +HP:0002555 Absent pubic hair 04-non-disease +HP:0002566 Intestinal malrotation 04-non-disease +HP:0002571 Achalasia 04-non-disease +HP:0002573 Hematochezia 04-non-disease +HP:0002574 Episodic abdominal pain 04-non-disease +HP:0002575 Tracheoesophageal fistula 04-non-disease +HP:0002576 Intussusception 04-non-disease +HP:0002579 Gastrointestinal dysmotility 04-non-disease +HP:0002590 Paralytic ileus 04-non-disease +HP:0002597 Abnormality of the vasculature 04-non-disease +HP:0002605 Hepatic necrosis 04-non-disease +HP:0002616 Aortic root aneurysm 04-non-disease +HP:0002617 Vascular dilatation 04-non-disease +HP:0002619 Varicose veins 04-non-disease +HP:0002624 Abnormal venous morphology 04-non-disease +HP:0002637 Cerebral ischemia 04-non-disease +HP:0002647 Aortic dissection 04-non-disease +HP:0002652 Skeletal dysplasia 04-non-disease +HP:0002653 Bone pain 04-non-disease +HP:0002655 Spondyloepiphyseal dysplasia 04-non-disease +HP:0002659 Increased susceptibility to fractures 04-non-disease +HP:0002705 High, narrow palate 04-non-disease +HP:0002714 Downturned corners of mouth 04-non-disease +HP:0002715 Abnormality of the immune system 04-non-disease +HP:0002716 Lymphadenopathy 04-non-disease +HP:0002719 Recurrent infections 04-non-disease +HP:0002721 Immunodeficiency 04-non-disease +HP:0002745 Oral leukoplakia 04-non-disease +HP:0002747 Respiratory insufficiency due to muscle weakness 04-non-disease +HP:0002750 Delayed skeletal maturation 04-non-disease +HP:0002751 Kyphoscoliosis 04-non-disease +HP:0002756 Pathologic fracture 04-non-disease +HP:0002757 Recurrent fractures 04-non-disease +HP:0002779 Tracheomalacia 04-non-disease +HP:0002788 Recurrent upper respiratory tract infections 04-non-disease +HP:0002791 Hypoventilation 04-non-disease +HP:0002793 Abnormal pattern of respiration 04-non-disease +HP:0002808 Kyphosis 04-non-disease +HP:0002814 Abnormality of the lower limb 04-non-disease +HP:0002817 Abnormality of the upper limb 04-non-disease +HP:0002829 Arthralgia 04-non-disease +HP:0002840 Lymphadenitis 04-non-disease +HP:0002857 Genu valgum 04-non-disease +HP:0002883 Hyperventilation 04-non-disease +HP:0002900 Hypokalemia 04-non-disease +HP:0002901 Hypocalcemia 04-non-disease +HP:0002902 Hyponatremia 04-non-disease +HP:0002904 Hyperbilirubinemia 04-non-disease +HP:0002905 Hyperphosphatemia 04-non-disease +HP:0002907 Microscopic hematuria 04-non-disease +HP:0002910 Elevated hepatic transaminase 04-non-disease +HP:0002916 Abnormality of chromosome segregation 04-non-disease +HP:0002919 Ketonuria 04-non-disease +HP:0002921 Abnormality of the cerebrospinal fluid 04-non-disease +HP:0002928 Decreased activity of the pyruvate dehydrogenase complex 04-non-disease +HP:0002936 Distal sensory impairment 04-non-disease +HP:0002937 Hemivertebrae 04-non-disease +HP:0002938 Lumbar hyperlordosis 04-non-disease +HP:0002943 Thoracic scoliosis 04-non-disease +HP:0002944 Thoracolumbar scoliosis 01-disease-subtype +HP:0002970 Genu varum 04-non-disease +HP:0002979 Bowing of the legs 04-non-disease +HP:0002980 Femoral bowing 04-non-disease +HP:0002986 Radial bowing 04-non-disease +HP:0002987 Elbow flexion contracture 04-non-disease +HP:0002999 Patellar dislocation 04-non-disease +HP:0003010 Prolonged bleeding time 04-non-disease +HP:0003011 Abnormality of the musculature 04-non-disease +HP:0003026 Short long bone 04-non-disease +HP:0003031 Ulnar bowing 04-non-disease +HP:0003040 Arthropathy 04-non-disease +HP:0003049 Ulnar deviation of the wrist 04-non-disease +HP:0003065 Patellar hypoplasia 04-non-disease +HP:0003072 Hypercalcemia 04-non-disease +HP:0003073 Hypoalbuminemia 04-non-disease +HP:0003074 Hyperglycemia 04-non-disease +HP:0003076 Glycosuria 04-non-disease +HP:0003086 Acromesomelia 04-non-disease +HP:0003108 Hyperglycinuria 04-non-disease +HP:0003110 Abnormality of urine homeostasis 04-non-disease +HP:0003111 Abnormal blood ion concentration 04-non-disease +HP:0003115 Abnormal EKG 04-non-disease +HP:0003117 Abnormal circulating hormone concentration 04-non-disease +HP:0003119 Abnormal circulating lipid concentration 04-non-disease +HP:0003121 Limb joint contracture 04-non-disease +HP:0003124 Hypercholesterolemia 04-non-disease +HP:0003127 Hypocalciuria 04-non-disease +HP:0003146 Hypocholesterolemia 04-non-disease +HP:0003150 Glutaric aciduria 04-non-disease +HP:0003154 Increased circulating ACTH level 04-non-disease +HP:0003155 Elevated circulating alkaline phosphatase concentration 04-non-disease +HP:0003163 Elevated urinary delta-aminolevulinic acid 04-non-disease +HP:0003179 Protrusio acetabuli 04-non-disease +HP:0003196 Short nose 04-non-disease +HP:0003199 Decreased muscle mass 04-non-disease +HP:0003202 Skeletal muscle atrophy 04-non-disease +HP:0003212 Increased circulating IgE level 04-non-disease +HP:0003228 Hypernatremia 04-non-disease +HP:0003231 Hypertyrosinemia 04-non-disease +HP:0003236 Elevated circulating creatine kinase concentration 04-non-disease +HP:0003244 Penile hypospadias 04-non-disease +HP:0003269 Sudanophilic leukodystrophy 04-non-disease +HP:0003270 Abdominal distention 04-non-disease +HP:0003274 Hypoplastic acetabulae 04-non-disease +HP:0003282 Low alkaline phosphatase 04-non-disease +HP:0003287 Abnormality of mitochondrial metabolism 04-non-disease +HP:0003298 Spina bifida occulta 04-non-disease +HP:0003306 Spinal rigidity 04-non-disease +HP:0003319 Abnormality of the cervical spine 04-non-disease +HP:0003323 Progressive muscle weakness 04-non-disease +HP:0003325 Limb-girdle muscle weakness 04-non-disease +HP:0003326 Myalgia 04-non-disease +HP:0003376 Steppage gait 04-non-disease +HP:0003390 Sensory axonal neuropathy 04-non-disease +HP:0003394 Muscle spasm 04-non-disease +HP:0003401 Paresthesia 04-non-disease +HP:0003418 Back pain 04-non-disease +HP:0003419 Low back pain 04-non-disease +HP:0003429 CNS hypomyelination 04-non-disease +HP:0003445 EMG: neuropathic changes 04-non-disease +HP:0003457 EMG abnormality 04-non-disease +HP:0003458 EMG: myopathic abnormalities 04-non-disease +HP:0003470 Paralysis 04-non-disease +HP:0003474 Somatic sensory dysfunction 04-non-disease +HP:0003482 EMG: axonal abnormality 04-non-disease +HP:0003487 Babinski sign 04-non-disease +HP:0003489 Acute episodes of neuropathic symptoms 04-non-disease +HP:0003508 Proportionate short stature 04-non-disease +HP:0003521 Disproportionate short-trunk short stature 04-non-disease +HP:0003530 Elevated circulating glutaric acid concentration 01-disease-subtype +HP:0003546 Exercise intolerance 04-non-disease +HP:0003547 Shoulder girdle muscle weakness 04-non-disease +HP:0003549 Abnormality of connective tissue 04-non-disease +HP:0003565 Elevated erythrocyte sedimentation rate 04-non-disease +HP:0003614 Trimethylaminuria 04-non-disease +HP:0003674 Onset 04-non-disease +HP:0003690 Limb muscle weakness 04-non-disease +HP:0003698 Difficulty standing 04-non-disease +HP:0003710 Exercise-induced muscle cramps 04-non-disease +HP:0003720 Generalized muscle hypertrophy 04-non-disease +HP:0003738 Exercise-induced myalgia 04-non-disease +HP:0003749 Pelvic girdle muscle weakness 04-non-disease +HP:0003752 Episodic flaccid weakness 04-non-disease +HP:0003756 Skeletal myopathy 01-disease-subtype +HP:0003789 Minicore myopathy 04-non-disease +HP:0003805 Rimmed vacuoles 04-non-disease +HP:0003808 Abnormal muscle tone 04-non-disease +HP:0003811 Neonatal death 04-non-disease +HP:0003826 Stillbirth 04-non-disease +HP:0003865 Bowed humerus 04-non-disease +HP:0004060 Trident hand 04-non-disease +HP:0004209 Clinodactyly of the 5th finger 04-non-disease +HP:0004277 Fractured hand bones 04-non-disease +HP:0004296 Abnormality of gastrointestinal vasculature 04-non-disease +HP:0004299 Hernia of the abdominal wall 04-non-disease +HP:0004308 Ventricular arrhythmia 04-non-disease +HP:0004322 Short stature 04-non-disease +HP:0004323 Abnormality of body weight 04-non-disease +HP:0004324 Increased body weight 04-non-disease +HP:0004325 Decreased body weight 04-non-disease +HP:0004326 Cachexia 04-non-disease +HP:0004329 Abnormal posterior eye segment morphology 04-non-disease +HP:0004338 Abnormal circulating aromatic amino acid concentration 04-non-disease +HP:0004348 Abnormality of bone mineral density 04-non-disease +HP:0004349 Reduced bone mineral density 04-non-disease +HP:0004354 Abnormal circulating carboxylic acid concentration 04-non-disease +HP:0004363 Abnormal circulating calcium concentration 04-non-disease +HP:0004364 Abnormal circulating nitrogen compound concentration 04-non-disease +HP:0004370 Abnormality of temperature regulation 04-non-disease +HP:0004371 Abnormality of glycosaminoglycan metabolism 04-non-disease +HP:0004372 Reduced consciousness/confusion 04-non-disease +HP:0004378 Abnormality of the anus 04-non-disease +HP:0004386 Gastrointestinal inflammation 04-non-disease +HP:0004398 Peptic ulcer 04-non-disease +HP:0004401 Meconium ileus 04-non-disease +HP:0004408 Abnormality of the sense of smell 04-non-disease +HP:0004418 Thrombophlebitis 04-non-disease +HP:0004419 Recurrent thrombophlebitis 04-non-disease +HP:0004420 Arterial thrombosis 04-non-disease +HP:0004421 Elevated systolic blood pressure 04-non-disease +HP:0004439 Craniofacial dysostosis 04-non-disease +HP:0004443 Lambdoidal craniosynostosis 04-non-disease +HP:0004448 Fulminant hepatic failure 04-non-disease +HP:0004467 Preauricular pit 04-non-disease +HP:0004474 Persistent open anterior fontanelle 04-non-disease +HP:0004481 Progressive macrocephaly 04-non-disease +HP:0004482 Relative macrocephaly 04-non-disease +HP:0004532 Sacral hypertrichosis 04-non-disease +HP:0004552 Scarring alopecia of scalp 01-disease-subtype +HP:0004602 Cervical C2/C3 vertebral fusion 04-non-disease +HP:0004605 Absent vertebral body mineralization 04-non-disease +HP:0004691 2-3 toe syndactyly 04-non-disease +HP:0004696 Talipes cavus equinovarus 04-non-disease +HP:0004719 Hyperechogenic kidneys 04-non-disease +HP:0004743 Chronic tubulointerstitial nephritis 04-non-disease +HP:0004751 Paroxysmal ventricular tachycardia 04-non-disease +HP:0004755 Supraventricular tachycardia 01-disease-subtype +HP:0004758 Effort-induced polymorphic ventricular tachycardia 04-non-disease +HP:0004763 Paroxysmal supraventricular tachycardia 01-disease-subtype +HP:0004787 Fulminant hepatitis 04-non-disease +HP:0004796 Gastrointestinal obstruction 04-non-disease +HP:0004798 Recurrent infection of the gastrointestinal tract 04-non-disease +HP:0004804 Congenital hemolytic anemia 01-disease-subtype +HP:0004839 Pyropoikilocytosis 04-non-disease +HP:0004840 Hypochromic microcytic anemia 04-non-disease +HP:0004855 Reduced protein S activity 04-non-disease +HP:0004872 Incisional hernia 04-non-disease +HP:0004887 Respiratory failure requiring assisted ventilation 04-non-disease +HP:0004902 Congenital lactic acidosis 04-non-disease +HP:0004925 Chronic lactic acidosis 04-non-disease +HP:0004933 Ascending aortic dissection 04-non-disease +HP:0004936 Venous thrombosis 04-non-disease +HP:0004969 Peripheral pulmonary artery stenosis 04-non-disease +HP:0005033 Distal ulnar hypoplasia 04-non-disease +HP:0005085 Limited knee flexion/extension 04-non-disease +HP:0005117 Elevated diastolic blood pressure 04-non-disease +HP:0005165 Shortened PR interval 04-non-disease +HP:0005180 Tricuspid regurgitation 04-non-disease +HP:0005181 Premature coronary artery atherosclerosis 04-non-disease +HP:0005184 Prolonged QTc interval 04-non-disease +HP:0005206 Pancreatic pseudocyst 04-non-disease +HP:0005208 Secretory diarrhea 04-non-disease +HP:0005224 Rectal abscess 04-non-disease +HP:0005230 Biliary tract obstruction 04-non-disease +HP:0005241 Total intestinal aganglionosis 04-non-disease +HP:0005268 Miscarriage 04-non-disease +HP:0005280 Depressed nasal bridge 04-non-disease +HP:0005281 Hypoplastic nasal bridge 04-non-disease +HP:0005359 Aplasia of the thymus 04-non-disease +HP:0005387 Combined immunodeficiency 04-non-disease +HP:0005465 Facial hyperostosis 04-non-disease +HP:0005469 Flat occiput 04-non-disease +HP:0005484 Secondary microcephaly 04-non-disease +HP:0005487 Prominent metopic ridge 04-non-disease +HP:0005521 Disseminated intravascular coagulation 04-non-disease +HP:0005532 Macrocytic dyserythropoietic anemia 04-non-disease +HP:0005562 Multiple renal cysts 04-non-disease +HP:0005609 Gallbladder dysfunction 04-non-disease +HP:0005613 Aplasia/hypoplasia of the femur 04-non-disease +HP:0005616 Accelerated skeletal maturation 04-non-disease +HP:0005639 Hyperextensible hand joints 04-non-disease +HP:0005692 Joint hyperflexibility 04-non-disease +HP:0005709 2-3 toe cutaneous syndactyly 04-non-disease +HP:0005750 Contractures of the joints of the lower limbs 04-non-disease +HP:0005775 Multiple skeletal anomalies 04-non-disease +HP:0005855 Multiple prenatal fractures 04-non-disease +HP:0005879 Congenital finger flexion contractures 04-non-disease +HP:0005881 Spinal instability 04-non-disease +HP:0005957 Breathing dysregulation 04-non-disease +HP:0005986 Limitation of neck motion 04-non-disease +HP:0006000 Ureteral obstruction 04-non-disease +HP:0006101 Finger syndactyly 01-disease-subtype +HP:0006114 Multiple palmar creases 04-non-disease +HP:0006118 Shortening of all distal phalanges of the fingers 04-non-disease +HP:0006150 Swan neck-like deformities of the fingers 04-non-disease +HP:0006159 Mesoaxial hand polydactyly 04-non-disease +HP:0006165 Proportionate shortening of all digits 04-non-disease +HP:0006315 Solitary median maxillary central incisor 04-non-disease +HP:0006337 Premature eruption of permanent teeth 04-non-disease +HP:0006467 Limited shoulder movement 04-non-disease +HP:0006487 Bowing of the long bones 04-non-disease +HP:0006515 Interstitial pneumonitis 04-non-disease +HP:0006517 Intraalveolar phospholipid accumulation 04-non-disease +HP:0006521 Pulmonary lymphangiectasia 04-non-disease +HP:0006530 Abnormal pulmonary interstitial morphology 04-non-disease +HP:0006536 Airway obstruction 04-non-disease +HP:0006554 Acute hepatic failure 04-non-disease +HP:0006571 Reduced number of intrahepatic bile ducts 04-non-disease +HP:0006610 Wide intermamillary distance 04-non-disease +HP:0006677 Prolonged QRS complex 04-non-disease +HP:0006695 Atrioventricular canal defect 04-non-disease +HP:0006699 Premature atrial contractions 04-non-disease +HP:0006767 Pituitary prolactin cell adenoma 04-non-disease +HP:0006789 Mitochondrial encephalopathy 04-non-disease +HP:0006829 Severe muscular hypotonia 04-non-disease +HP:0006834 Developmental stagnation at onset of seizures 04-non-disease +HP:0006855 Cerebellar vermis atrophy 04-non-disease +HP:0006872 Cerebral hypoplasia 04-non-disease +HP:0006882 Severe hydrocephalus 04-non-disease +HP:0006895 Lower limb hypertonia 04-non-disease +HP:0006915 Inability to walk by childhood/adolescence 04-non-disease +HP:0006919 Abnormal aggressive, impulsive or violent behavior 04-non-disease +HP:0006957 Loss of ability to walk 04-non-disease +HP:0006978 Dysmyelinating leukodystrophy 04-non-disease +HP:0006986 Upper limb spasticity 04-non-disease +HP:0007010 Poor fine motor coordination 04-non-disease +HP:0007034 Generalized hyperreflexia 04-non-disease +HP:0007083 Hyperactive patellar reflex 04-non-disease +HP:0007126 Proximal amyotrophy 04-non-disease +HP:0007141 Sensorimotor neuropathy 04-non-disease +HP:0007165 Periventricular heterotopia 04-non-disease +HP:0007185 Loss of consciousness 04-non-disease +HP:0007210 Lower limb amyotrophy 04-non-disease +HP:0007236 Recurrent subcortical infarcts 04-non-disease +HP:0007256 Abnormal pyramidal sign 04-non-disease +HP:0007305 CNS demyelination 04-non-disease +HP:0007313 Cerebral degeneration 04-non-disease +HP:0007328 Impaired pain sensation 04-non-disease +HP:0007333 Hypoplasia of the frontal lobes 04-non-disease +HP:0007340 Lower limb muscle weakness 04-non-disease +HP:0007359 Focal-onset seizure 04-non-disease +HP:0007360 Aplasia/Hypoplasia of the cerebellum 04-non-disease +HP:0007366 Atrophy/Degeneration affecting the brainstem 04-non-disease +HP:0007367 Atrophy/Degeneration affecting the central nervous system 04-non-disease +HP:0007370 Aplasia/Hypoplasia of the corpus callosum 04-non-disease +HP:0007404 Nonepidermolytic palmoplantar hyperkeratosis 04-non-disease +HP:0007437 Multiple cutaneous leiomyomas 04-non-disease +HP:0007446 Palmoplantar blistering 04-non-disease +HP:0007455 Adermatoglyphia 04-non-disease +HP:0007552 Abnormal subcutaneous fat tissue distribution 04-non-disease +HP:0007559 Localized epidermolytic hyperkeratosis 04-non-disease +HP:0007565 Multiple cafe-au-lait spots 04-non-disease +HP:0007633 Bilateral microphthalmos 04-non-disease +HP:0007648 Punctate cataract 04-non-disease +HP:0007663 Reduced visual acuity 04-non-disease +HP:0007676 Hypoplasia of the iris 04-non-disease +HP:0007686 Abnormal pupillary function 04-non-disease +HP:0007700 Ocular anterior segment dysgenesis 04-non-disease +HP:0007716 Uveal melanoma 04-non-disease +HP:0007722 Retinal pigment epithelial atrophy 04-non-disease +HP:0007750 Hypoplasia of the fovea 04-non-disease +HP:0007754 Macular dystrophy 04-non-disease +HP:0007777 Chorioretinal scar 04-non-disease +HP:0007780 Cortical pulverulent cataract 04-non-disease +HP:0007803 Monochromacy 04-non-disease +HP:0007830 Adult-onset night blindness 04-non-disease +HP:0007924 Slow decrease in visual acuity 04-non-disease +HP:0007936 Restrictive external ophthalmoplegia 04-non-disease +HP:0007957 Corneal opacity 04-non-disease +HP:0007968 Remnants of the hyaloid vascular system 04-non-disease +HP:0007994 Peripheral visual field loss 04-non-disease +HP:0008066 Abnormal blistering of the skin 04-non-disease +HP:0008067 Abnormally lax or hyperextensible skin 04-non-disease +HP:0008081 Pes valgus 04-non-disease +HP:0008110 Equinovarus deformity 04-non-disease +HP:0008115 Clinodactyly of the 3rd toe 04-non-disease +HP:0008158 Hyperapobetalipoproteinemia 04-non-disease +HP:0008209 Premature ovarian insufficiency 04-non-disease +HP:0008250 Infantile hypercalcemia 04-non-disease +HP:0008277 Abnormal blood zinc concentration 04-non-disease +HP:0008316 Abnormal mitochondria in muscle tissue 04-non-disease +HP:0008348 Decreased circulating IgG2 level 04-non-disease +HP:0008365 Abnormal talus morphology 04-non-disease +HP:0008386 Aplasia/Hypoplasia of the nails 04-non-disease +HP:0008388 Abnormal toenail morphology 04-non-disease +HP:0008404 Nail dystrophy 04-non-disease +HP:0008419 Intervertebral disc degeneration 04-non-disease +HP:0008443 Spinal deformities 04-non-disease +HP:0008504 Moderate sensorineural hearing impairment 04-non-disease +HP:0008513 Bilateral conductive hearing impairment 04-non-disease +HP:0008527 Congenital sensorineural hearing impairment 04-non-disease +HP:0008625 Severe sensorineural hearing impairment 04-non-disease +HP:0008672 Calcium oxalate nephrolithiasis 04-non-disease +HP:0008734 Decreased testicular size 04-non-disease +HP:0008770 Obsessive-compulsive trait 04-non-disease +HP:0008846 Severe intrauterine growth retardation 04-non-disease +HP:0008872 Feeding difficulties in infancy 04-non-disease +HP:0008873 Disproportionate short-limb short stature 04-non-disease +HP:0008897 Postnatal growth retardation 04-non-disease +HP:0008909 Lethal short-limbed short stature 04-non-disease +HP:0008935 Generalized neonatal hypotonia 04-non-disease +HP:0008936 Axial hypotonia 04-non-disease +HP:0008942 Acute rhabdomyolysis 01-disease-subtype +HP:0008947 Infantile muscular hypotonia 04-non-disease +HP:0008955 Progressive distal muscular atrophy 04-non-disease +HP:0008956 Proximal lower limb amyotrophy 04-non-disease +HP:0008967 Exercise-induced muscle stiffness 04-non-disease +HP:0008970 Scapulohumeral muscular dystrophy 04-non-disease +HP:0008981 Calf muscle hypertrophy 04-non-disease +HP:0008994 Proximal muscle weakness in lower limbs 04-non-disease +HP:0008997 Proximal muscle weakness in upper limbs 04-non-disease +HP:0009020 Exercise-induced muscle fatigue 04-non-disease +HP:0009027 Foot dorsiflexor weakness 04-non-disease +HP:0009028 Generalized weakness of limb muscles 04-non-disease +HP:0009045 Exercise-induced rhabdomyolysis 04-non-disease +HP:0009049 Peroneal muscle atrophy 04-non-disease +HP:0009053 Distal lower limb muscle weakness 04-non-disease +HP:0009063 Progressive distal muscle weakness 04-non-disease +HP:0009087 Posteriorly placed tongue 04-non-disease +HP:0009088 Speech articulation difficulties 04-non-disease +HP:0009124 Abnormal adipose tissue morphology 04-non-disease +HP:0009130 Hand muscle atrophy 04-non-disease +HP:0009487 Ulnar deviation of the hand 04-non-disease +HP:0009601 Aplasia/Hypoplasia of the thumb 04-non-disease +HP:0009623 Proximal placement of thumb 04-non-disease +HP:0009717 Cortical tubers 04-non-disease +HP:0009720 Adenoma sebaceum 04-non-disease +HP:0009722 Dental enamel pits 04-non-disease +HP:0009736 Tibial pseudarthrosis 04-non-disease +HP:0009737 Lisch nodules 04-non-disease +HP:0009748 Large earlobe 04-non-disease +HP:0009762 Facial wrinkling 04-non-disease +HP:0009763 Limb pain 04-non-disease +HP:0009778 Short thumb 04-non-disease +HP:0009779 3-4 toe syndactyly 04-non-disease +HP:0009800 Maternal diabetes 04-non-disease +HP:0009803 Short phalanx of finger 04-non-disease +HP:0009804 Tooth agenesis 04-non-disease +HP:0009810 Abnormality of upper limb joint 04-non-disease +HP:0009816 Lower limb undergrowth 04-non-disease +HP:0009824 Upper limb undergrowth 04-non-disease +HP:0009826 Limb undergrowth 04-non-disease +HP:0009890 High anterior hairline 04-non-disease +HP:0009907 Attached earlobe 04-non-disease +HP:0009908 Anterior creases of earlobe 04-non-disease +HP:0009921 Duane anomaly 04-non-disease +HP:0009926 Epiphora 04-non-disease +HP:0009933 Narrow naris 04-non-disease +HP:0009943 Complete duplication of thumb phalanx 04-non-disease +HP:0009944 Partial duplication of thumb phalanx 04-non-disease +HP:0010049 Short metacarpal 04-non-disease +HP:0010059 Broad hallux phalanx 04-non-disease +HP:0010307 Stridor 04-non-disease +HP:0010313 Breast hypertrophy 04-non-disease +HP:0010314 Premature thelarche 04-non-disease +HP:0010438 Abnormal ventricular septum morphology 04-non-disease +HP:0010447 Anal fistula 04-non-disease +HP:0010450 Esophageal stenosis 04-non-disease +HP:0010473 Porphyrinuria 04-non-disease +HP:0010508 Metatarsus valgus 04-non-disease +HP:0010511 Long toe 04-non-disease +HP:0010515 Aplasia/Hypoplasia of the thymus 04-non-disease +HP:0010517 Ectopic thymus tissue 04-non-disease +HP:0010539 Thin calvarium 04-non-disease +HP:0010554 Cutaneous finger syndactyly 01-disease-subtype +HP:0010569 Elevated 7-dehydrocholesterol 01-disease-subtype +HP:0010577 Absent epiphyses 04-non-disease +HP:0010609 Skin tags 04-non-disease +HP:0010650 Hypoplasia of the premaxilla 04-non-disease +HP:0010668 Abnormality of the zygomatic bone 04-non-disease +HP:0010689 Mirror image polydactyly 04-non-disease +HP:0010720 Abnormal hair pattern 04-non-disease +HP:0010743 Short metatarsal 04-non-disease +HP:0010747 Medial flaring of the eyebrow 04-non-disease +HP:0010750 Dermatochalasis 04-non-disease +HP:0010752 Cleft mandible 04-non-disease +HP:0010753 Midline defect of mandible 04-non-disease +HP:0010769 Pilonidal sinus 04-non-disease +HP:0010771 Pilonidal abscess 04-non-disease +HP:0010783 Erythema 04-non-disease +HP:0010804 Tented upper lip vermilion 04-non-disease +HP:0010805 Upturned corners of mouth 04-non-disease +HP:0010813 Abnormal number of hair whorls 04-non-disease +HP:0010841 Multifocal epileptiform discharges 04-non-disease +HP:0010845 EEG with generalized slow activity 04-non-disease +HP:0010857 EEG with periodic abnormalities 04-non-disease +HP:0010862 Delayed fine motor development 04-non-disease +HP:0010863 Receptive language delay 04-non-disease +HP:0010864 Intellectual disability, severe 04-non-disease +HP:0010865 Oppositional defiant disorder 04-non-disease +HP:0010881 Abnormality of the umbilical cord 04-non-disease +HP:0010886 Osteochondritis dissecans 04-non-disease +HP:0010931 Abnormal blood sodium concentration 04-non-disease +HP:0010944 Abnormal renal pelvis morphology 04-non-disease +HP:0010956 Fetal megacystis 04-non-disease +HP:0010970 Blood group antigen abnormality 04-non-disease +HP:0010972 Anemia of inadequate production 04-non-disease +HP:0010992 Stress urinary incontinence 04-non-disease +HP:0011013 Abnormal circulating carbohydrate concentration 04-non-disease +HP:0011014 Abnormal glucose homeostasis 04-non-disease +HP:0011015 Abnormal blood glucose concentration 04-non-disease +HP:0011017 Abnormal cellular physiology 04-non-disease +HP:0011024 Abnormality of the gastrointestinal tract 04-non-disease +HP:0011025 Abnormal cardiovascular system physiology 04-non-disease +HP:0011028 Abnormality of blood circulation 04-non-disease +HP:0011031 Abnormality of iron homeostasis 04-non-disease +HP:0011035 Abnormal renal cortex morphology 04-non-disease +HP:0011037 Decreased urine output 04-non-disease +HP:0011079 Impacted tooth 04-non-disease +HP:0011090 Fused teeth 04-non-disease +HP:0011094 Increased overbite 04-non-disease +HP:0011096 Peripheral demyelination 04-non-disease +HP:0011097 Epileptic spasm 04-non-disease +HP:0011098 Speech apraxia 04-non-disease +HP:0011105 Hypervolemia 04-non-disease +HP:0011106 Hypovolemia 04-non-disease +HP:0011107 Recurrent aphthous stomatitis 04-non-disease +HP:0011110 Recurrent tonsillitis 04-non-disease +HP:0011120 Concave nasal ridge 04-non-disease +HP:0011121 Abnormality of skin morphology 04-non-disease +HP:0011123 Inflammatory abnormality of the skin 04-non-disease +HP:0011141 Age-related cataract 04-non-disease +HP:0011142 Age-related nuclear cataract 04-non-disease +HP:0011147 Typical absence seizure 04-non-disease +HP:0011198 EEG with generalized epileptiform discharges 04-non-disease +HP:0011203 EEG with abnormally slow frequencies 04-non-disease +HP:0011220 Prominent forehead 04-non-disease +HP:0011227 Elevated circulating C-reactive protein concentration 04-non-disease +HP:0011276 Vascular skin abnormality 04-non-disease +HP:0011277 Abnormality of the urinary system physiology 04-non-disease +HP:0011297 Abnormal digit morphology 04-non-disease +HP:0011311 Sydney crease 04-non-disease +HP:0011338 Abnormality of mouth shape 04-non-disease +HP:0011341 Long upper lip 04-non-disease +HP:0011342 Mild global developmental delay 04-non-disease +HP:0011343 Moderate global developmental delay 04-non-disease +HP:0011344 Severe global developmental delay 04-non-disease +HP:0011368 Epidermal thickening 04-non-disease +HP:0011380 Morphological abnormality of the semicircular canal 04-non-disease +HP:0011387 Enlarged vestibular aqueduct 04-non-disease +HP:0011411 Forceps delivery 04-non-disease +HP:0011412 Ventouse delivery 04-non-disease +HP:0011442 Abnormal central motor function 04-non-disease +HP:0011446 Abnormality of higher mental function 04-non-disease +HP:0011451 Primary microcephaly 04-non-disease +HP:0011458 Abdominal symptom 04-non-disease +HP:0011471 Gastrostomy tube feeding in infancy 04-non-disease +HP:0011474 Childhood onset sensorineural hearing impairment 04-non-disease +HP:0011476 Profound sensorineural hearing impairment 04-non-disease +HP:0011499 Mydriasis 04-non-disease +HP:0011504 Bull's eye maculopathy 04-non-disease +HP:0011555 Double inlet left ventricle 04-non-disease +HP:0011565 Common atrium 04-non-disease +HP:0011611 Interrupted aortic arch 04-non-disease +HP:0011659 Tetralogy of Fallot with absent pulmonary valve 04-non-disease +HP:0011705 First degree atrioventricular block 04-non-disease +HP:0011706 Second degree atrioventricular block 04-non-disease +HP:0011712 Right bundle branch block 04-non-disease +HP:0011713 Left bundle branch block 04-non-disease +HP:0011736 Primary hyperaldosteronism 04-non-disease +HP:0011800 Midface retrusion 04-non-disease +HP:0011804 Abnormal muscle physiology 04-non-disease +HP:0011805 Abnormal skeletal muscle morphology 04-non-disease +HP:0011808 Decreased patellar reflex 04-non-disease +HP:0011821 Abnormality of facial skeleton 04-non-disease +HP:0011840 Abnormality of T cell physiology 04-non-disease +HP:0011841 Ventricular flutter 04-non-disease +HP:0011842 Abnormal skeletal morphology 04-non-disease +HP:0011848 Abdominal colic 04-non-disease +HP:0011868 Sciatica 04-non-disease +HP:0011886 Hyphema 04-non-disease +HP:0011900 Hypofibrinogenemia 04-non-disease +HP:0011902 Abnormal hemoglobin 04-non-disease +HP:0011904 Persistence of hemoglobin F 04-non-disease +HP:0011906 Reduced beta/alpha synthesis ratio 04-non-disease +HP:0011913 Lumbar hypertrichosis 04-non-disease +HP:0011918 Clinodactyly of the 4th toe 04-non-disease +HP:0011923 Decreased activity of mitochondrial complex I 04-non-disease +HP:0011924 Decreased activity of mitochondrial complex III 04-non-disease +HP:0011950 Bronchiolitis 04-non-disease +HP:0011968 Feeding difficulties 04-non-disease +HP:0011974 Myelofibrosis 04-non-disease +HP:0011999 Paranoia 04-non-disease +HP:0012042 Aspirin-induced asthma 04-non-disease +HP:0012075 Personality disorder 04-non-disease +HP:0012076 Borderline personality disorder 04-non-disease +HP:0012086 Abnormal urinary color 04-non-disease +HP:0012098 Edema of the dorsum of feet 04-non-disease +HP:0012103 Abnormality of the mitochondrion 04-non-disease +HP:0012115 Hepatitis 04-non-disease +HP:0012167 Hair-pulling 04-non-disease +HP:0012194 Episodic hemiplegia 04-non-disease +HP:0012199 Cluster headache 04-non-disease +HP:0012205 Globozoospermia 04-non-disease +HP:0012207 Reduced sperm motility 04-non-disease +HP:0012210 Abnormal renal morphology 04-non-disease +HP:0012211 Abnormal renal physiology 04-non-disease +HP:0012219 Erythema nodosum 04-non-disease +HP:0012227 Urethral stricture 04-non-disease +HP:0012228 Tension-type headache 04-non-disease +HP:0012232 Shortened QT interval 04-non-disease +HP:0012234 Agranulocytosis 04-non-disease +HP:0012235 Drug-induced agranulocytosis 04-non-disease +HP:0012248 Prolonged PR interval 04-non-disease +HP:0012255 Dynein arm defect of respiratory motile cilia 04-non-disease +HP:0012259 Absent inner and outer dynein arms 04-non-disease +HP:0012262 Abnormal ciliary motility 04-non-disease +HP:0012276 Digital flexor tenosynovitis 04-non-disease +HP:0012278 Abnormal circulating serine concentration 04-non-disease +HP:0012304 Hypoplastic aortic arch 04-non-disease +HP:0012317 Sacroiliac arthritis 04-non-disease +HP:0012332 Abnormal autonomic nervous system physiology 04-non-disease +HP:0012364 Decreased urinary potassium 04-non-disease +HP:0012378 Fatigue 04-non-disease +HP:0012382 Left-to-right shunt 04-non-disease +HP:0012385 Camptodactyly 04-non-disease +HP:0012388 Acute bronchitis 04-non-disease +HP:0012389 Appendicular hypotonia 04-non-disease +HP:0012390 Anal fissure 04-non-disease +HP:0012410 Pure red cell aplasia 04-non-disease +HP:0012424 Chorioretinitis 04-non-disease +HP:0012430 Cerebral white matter hypoplasia 04-non-disease +HP:0012438 Abnormal gallbladder physiology 04-non-disease +HP:0012440 Abnormal biliary tract morphology 04-non-disease +HP:0012443 Abnormality of brain morphology 04-non-disease +HP:0012444 Brain atrophy 04-non-disease +HP:0012447 Abnormal myelination 04-non-disease +HP:0012448 Delayed myelination 04-non-disease +HP:0012450 Chronic constipation 04-non-disease +HP:0012470 Setting-sun eye phenomenon 04-non-disease +HP:0012471 Thick vermilion border 04-non-disease +HP:0012514 Lower limb pain 04-non-disease +HP:0012520 Dilation of Virchow-Robin spaces 04-non-disease +HP:0012532 Chronic pain 04-non-disease +HP:0012587 Macroscopic hematuria 04-non-disease +HP:0012590 Abnormal urine output 04-non-disease +HP:0012594 Moderate albuminuria 04-non-disease +HP:0012595 Mild proteinuria 04-non-disease +HP:0012598 Abnormal urine potassium concentration 04-non-disease +HP:0012603 Abnormal urine sodium concentration 04-non-disease +HP:0012614 Abnormal urine cytology 04-non-disease +HP:0012638 Abnormal nervous system physiology 04-non-disease +HP:0012647 Abnormal inflammatory response 04-non-disease +HP:0012649 Increased inflammatory response 04-non-disease +HP:0012664 Reduced ejection fraction 04-non-disease +HP:0012675 Iron accumulation in brain 04-non-disease +HP:0012704 Widened subarachnoid space 04-non-disease +HP:0012718 Morphological abnormality of the gastrointestinal tract 04-non-disease +HP:0012719 Functional abnormality of the gastrointestinal tract 04-non-disease +HP:0012735 Cough 04-non-disease +HP:0012736 Profound global developmental delay 04-non-disease +HP:0012745 Short palpebral fissure 04-non-disease +HP:0012758 Neurodevelopmental delay 04-non-disease +HP:0012759 Neurodevelopmental abnormality 04-non-disease +HP:0012762 Cerebral white matter atrophy 04-non-disease +HP:0012803 Anisometropia 04-non-disease +HP:0012864 Abnormal sperm morphology 04-non-disease +HP:0012868 Abnormal sperm tail morphology 04-non-disease +HP:0012873 Absent vas deferens 04-non-disease +HP:0012877 Retrograde ejaculation 04-non-disease +HP:0012899 Handgrip myotonia 04-non-disease +HP:0020046 Accommodative esotropia 01-disease-subtype +HP:0020083 Furuncle 04-non-disease +HP:0020174 Refractory drug response 04-non-disease +HP:0025004 Hallux rigidus 04-non-disease +HP:0025031 Abnormality of the digestive system 04-non-disease +HP:0025095 Sneeze 04-non-disease +HP:0025116 Fetal distress 04-non-disease +HP:0025142 Constitutional symptom 04-non-disease +HP:0025234 Parasomnia 04-non-disease +HP:0025236 Somnambulism 04-non-disease +HP:0025246 Trichilemmal cyst 04-non-disease +HP:0025258 Stiff neck 04-non-disease +HP:0025267 Snoring 04-non-disease +HP:0025268 Stuttering 04-non-disease +HP:0025270 Abnormal esophagus physiology 04-non-disease +HP:0025324 Arterial occlusion 04-non-disease +HP:0025328 Antepartum hemorrhage 04-non-disease +HP:0025354 Abnormal cellular phenotype 04-non-disease +HP:0025382 Hypodipsia 04-non-disease +HP:0025423 Abnormal larynx morphology 04-non-disease +HP:0025425 Laryngospasm 04-non-disease +HP:0025428 Bronchospasm 04-non-disease +HP:0025517 Hypoplastic hippocampus 04-non-disease +HP:0025534 Ocular melanocytosis 04-non-disease +HP:0025700 Anhydramnios 04-non-disease +HP:0030016 Dyspareunia 04-non-disease +HP:0030051 Tip-toe gait 04-non-disease +HP:0030052 Inguinal freckling 04-non-disease +HP:0030082 Abnormal drinking behavior 04-non-disease +HP:0030084 Clinodactyly 04-non-disease +HP:0030096 Abnormal muscle fiber dystrophin expression 04-non-disease +HP:0030114 Absent muscle fiber dysferlin 04-non-disease +HP:0030148 Heart murmur 04-non-disease +HP:0030151 Cholangitis 04-non-disease +HP:0030157 Flank pain 04-non-disease +HP:0030160 Cervicitis 04-non-disease +HP:0030190 Oral motor hypotonia 04-non-disease +HP:0030211 Slow pupillary light response 04-non-disease +HP:0030236 Abnormality of muscle size 04-non-disease +HP:0030242 Portal vein thrombosis 04-non-disease +HP:0030303 Hypoplastic anterior commissure 04-non-disease +HP:0030369 Induced vaginal delivery 04-non-disease +HP:0030402 Abnormal platelet aggregation 04-non-disease +HP:0030436 Fibrofolliculoma 04-non-disease +HP:0030680 Abnormality of cardiovascular system morphology 04-non-disease +HP:0030757 Tooth abscess 04-non-disease +HP:0030766 Ear pain 04-non-disease +HP:0030775 Modic type vertebral endplate changes 04-non-disease +HP:0030791 Abnormal jaw morphology 04-non-disease +HP:0030833 Neck pain 04-non-disease +HP:0030834 Shoulder pain 04-non-disease +HP:0030838 Hip pain 04-non-disease +HP:0030839 Knee pain 04-non-disease +HP:0030853 Heterotaxy 04-non-disease +HP:0030878 Abnormality on pulmonary function testing 04-non-disease +HP:0030895 Abnormal gastrointestinal motility 04-non-disease +HP:0030897 Decreased intestinal transit time 04-non-disease +HP:0030914 Abnormal peristalsis 04-non-disease +HP:0030956 Abnormality of cardiovascular system electrophysiology 04-non-disease +HP:0030972 Abnormal systemic blood pressure 04-non-disease +HP:0031030 Elevated carcinoma antigen 125 level 04-non-disease +HP:0031047 Paraproteinemia 04-non-disease +HP:0031122 Two-raphe bicuspid aortic valve 04-non-disease +HP:0031192 Abnormal morphology of left ventricular trabeculae 04-non-disease +HP:0031217 Hot flashes 04-non-disease +HP:0031273 Shock 04-non-disease +HP:0031284 Flushing 04-non-disease +HP:0031292 Cutaneous abscess 04-non-disease +HP:0031295 Left atrial enlargement 04-non-disease +HP:0031364 Ecchymosis 04-non-disease +HP:0031456 Ectopic pregnancy 04-non-disease +HP:0031458 Adenoiditis 04-non-disease +HP:0031481 Abnormal mitral valve physiology 04-non-disease +HP:0031652 Abnormal aortic valve physiology 04-non-disease +HP:0031678 Atherosclerotic lesion 04-non-disease +HP:0031685 Abnormal stool composition 04-non-disease +HP:0031703 Abnormal ear morphology 04-non-disease +HP:0031760 Non-accomodative esotropia 01-disease-subtype +HP:0031801 Vocal cord dysfunction 04-non-disease +HP:0031826 Abnormal reflex 04-non-disease +HP:0031844 Euphoria 04-non-disease +HP:0031860 Abnormal heart rate variability 04-non-disease +HP:0031987 Diminished ability to concentrate 04-non-disease +HP:0032016 Abnormal sputum 04-non-disease +HP:0032072 Popliteal synovial cyst 04-non-disease +HP:0032141 Precordial pain 04-non-disease +HP:0032153 Joint subluxation 04-non-disease +HP:0032155 Abdominal cramps 04-non-disease +HP:0032156 Skin detachment 04-non-disease +HP:0032190 Abnormal meniscus morphology 04-non-disease +HP:0032252 Granuloma 04-non-disease +HP:0032263 Increased blood pressure 04-non-disease +HP:0032310 Granulocytosis 04-non-disease +HP:0032408 Breast mass 04-non-disease +HP:0032547 Low intraocular pressure 04-non-disease +HP:0032565 Vaginal mucosal ulceration 04-non-disease +HP:0033006 Diffuse alveolar damage 04-non-disease +HP:0033454 Tube feeding 04-non-disease +HP:0034241 Prenatal death 04-non-disease +HP:0040019 Finger clinodactyly 04-non-disease +HP:0040064 Abnormality of limbs 04-non-disease +HP:0040070 Abnormal upper limb bone morphology 04-non-disease +HP:0040079 Irregular dentition 04-non-disease +HP:0040082 Happy demeanor 04-non-disease +HP:0040151 Epiblepharon of lower lid 04-non-disease +HP:0040165 Periostitis 04-non-disease +HP:0040175 Platelet-activating factor acetylhydrolase deficiency 04-non-disease +HP:0040183 Encopresis 04-non-disease +HP:0040185 Macrothrombocytopenia 04-non-disease +HP:0040187 Neonatal sepsis 04-non-disease +HP:0040188 Osteochondrosis 04-non-disease +HP:0040216 Hypoinsulinemia 04-non-disease +HP:0040223 Pulmonary hemorrhage 04-non-disease +HP:0040233 Factor XIII subunit A deficiency 04-non-disease +HP:0040269 Blocked Eustachian tube 04-non-disease +HP:0040270 Impaired glucose tolerance 04-non-disease +HP:0045046 Reduced insulin like growth factor binding protein acid labile subunit concentration 04-non-disease +HP:0045059 Hyperkeratotic papule 04-non-disease +HP:0100014 Epiretinal membrane 04-non-disease +HP:0100022 Abnormality of movement 04-non-disease +HP:0100023 Recurrent hand flapping 04-non-disease +HP:0100033 Tics 04-non-disease +HP:0100249 Calcification of muscles 04-non-disease +HP:0100256 Senile plaques 04-non-disease +HP:0100257 Ectrodactyly 04-non-disease +HP:0100281 Chronic colitis 04-non-disease +HP:0100309 Subdural hemorrhage 01-disease-subtype +HP:0100501 Recurrent bronchiolitis 04-non-disease +HP:0100504 Low levels of vitamin B2 04-non-disease +HP:0100508 Abnormality of vitamin metabolism 04-non-disease +HP:0100523 Liver abscess 04-non-disease +HP:0100529 Abnormal blood phosphate concentration 04-non-disease +HP:0100534 Episcleritis 04-non-disease +HP:0100537 Fasciitis 04-non-disease +HP:0100543 Cognitive impairment 04-non-disease +HP:0100545 Arterial stenosis 04-non-disease +HP:0100550 Tendon rupture 04-non-disease +HP:0100559 Lower limb asymmetry 04-non-disease +HP:0100578 Lipoatrophy 04-non-disease +HP:0100582 Nasal polyposis 04-non-disease +HP:0100585 Telangiectasia of the skin 04-non-disease +HP:0100595 Camptocormia 04-non-disease +HP:0100601 Eclampsia 04-non-disease +HP:0100607 Dysmenorrhea 04-non-disease +HP:0100608 Metrorrhagia 04-non-disease +HP:0100613 Death in early adulthood 04-non-disease +HP:0100633 Esophagitis 01-disease-subtype +HP:0100659 Abnormal cerebral vascular morphology 04-non-disease +HP:0100698 Subcutaneous neurofibromas 01-disease-subtype +HP:0100699 Scarring 04-non-disease +HP:0100704 Cerebral visual impairment 04-non-disease +HP:0100716 Self-injurious behavior 04-non-disease +HP:0100727 Histiocytosis 04-non-disease +HP:0100738 Abnormal eating behavior 04-non-disease +HP:0100749 Chest pain 04-non-disease +HP:0100755 Abnormality of salivation 04-non-disease +HP:0100759 Clubbing of fingers 04-non-disease +HP:0100763 Abnormality of the lymphatic system 04-non-disease +HP:0100783 Breast aplasia 04-non-disease +HP:0100790 Hernia 04-non-disease +HP:0100806 Sepsis 04-non-disease +HP:0100807 Long fingers 04-non-disease +HP:0100813 Testicular torsion 04-non-disease +HP:0100825 Cheilitis 04-non-disease +HP:0100832 Vitreous floaters 04-non-disease +HP:0100851 Abnormal emotion/affect behavior 04-non-disease +HP:0100880 Nephrogenic rest 04-non-disease +HP:0200023 Priapism 04-non-disease +HP:0200026 Ocular pain 04-non-disease +HP:0200032 Kayser-Fleischer ring 04-non-disease +HP:0200037 Skin vesicle 04-non-disease +HP:0200042 Skin ulcer 04-non-disease +HP:0200049 Upper limb hypertonia 04-non-disease +HP:0200055 Small hand 04-non-disease +HP:0200065 Chorioretinal degeneration 04-non-disease +HP:0200119 Acute hepatitis 04-non-disease +HP:0200134 Epileptic encephalopathy 04-non-disease +HP:0200148 Abnormal liver function tests during pregnancy 04-non-disease +HP:0400007 Polymenorrhea 04-non-disease +HP:0410049 Abnormality of radial ray 04-non-disease +HP:0410204 Increased intestinal transit time 04-non-disease +MONDO:0000005 alopecia, isolated 02-disease-root +MONDO:0000009 inherited bleeding disorder, platelet-type 02-disease-root +MONDO:0000014 colorblindness, partial 02-disease-root +MONDO:0000015 classic complement early component deficiency 02-disease-root +MONDO:0000023 infantile liver failure 02-disease-root +MONDO:0000030 sleep-related hypermotor epilepsy 02-disease-root +MONDO:0000032 febrile seizures, familial 02-disease-root +MONDO:0000044 hereditary hypophosphatemic rickets 02-disease-root +MONDO:0000045 hypothyroidism, congenital, nongoitrous 02-disease-root +MONDO:0000050 isolated congenital growth hormone deficiency 02-disease-root +MONDO:0000060 microcephalic osteodysplastic primordial dwarfism 01-disease-subtype +MONDO:0000062 isolated microphthalmia 02-disease-root +MONDO:0000066 mitochondrial complex deficiency 03-disease-area +MONDO:0000075 neuronopathy, distal hereditary motor 02-disease-root +MONDO:0000078 acrocephalopolysyndactyly 01-disease-subtype +MONDO:0000087 polymicrogyria 02-disease-root +MONDO:0000088 precocious puberty 02-disease-root +MONDO:0000090 progressive external ophthalmoplegia with mitochondrial DNA deletions 02-disease-root +MONDO:0000104 anemia, hypochromic microcytic with iron overload 02-disease-root +MONDO:0000107 auriculocondylar syndrome 02-disease-root +MONDO:0000110 bifid nose 01-disease-subtype +MONDO:0000111 camptodactyly syndrome, Guadalajara 02-disease-root +MONDO:0000114 cerebelloparenchymal disorder 03-disease-area +MONDO:0000115 Chiari malformation 02-disease-root +MONDO:0000118 reticulate pigment disorder 02-disease-root +MONDO:0000119 congenital heart defects, multiple types 02-disease-root +MONDO:0000127 geleophysic dysplasia 02-disease-root +MONDO:0000128 giant axonal neuropathy 02-disease-root +MONDO:0000129 glutaric aciduria 03-disease-area +MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome 02-disease-root +MONDO:0000136 keratosis follicularis spinulosa decalvans 01-disease-subtype +MONDO:0000137 leukoencephalopathy, megalencephalic 02-disease-root +MONDO:0000141 mosaic variegated aneuploidy syndrome 02-disease-root +MONDO:0000147 polyposis 02-disease-root +MONDO:0000148 pulmonary fibrosis and/or bone marrow failure, telomere-related 02-disease-root +MONDO:0000151 symphalangism 02-disease-root +MONDO:0000152 thiamine-responsive dysfunction syndrome 02-disease-root +MONDO:0000153 transposition of the great arteries 02-disease-root +MONDO:0000156 trigonocephaly 02-disease-root +MONDO:0000159 bone marrow failure syndrome 02-disease-root +MONDO:0000160 epilepsy, familial adult myoclonic 02-disease-root +MONDO:0000166 encephalopathy, acute, infection-induced 02-disease-root +MONDO:0000167 Huntington disease and related disorders 03-disease-area +MONDO:0000169 microphthalmia, isolated, with cataract 02-disease-root +MONDO:0000170 microphthalmia, isolated, with coloboma 02-disease-root +MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A 02-disease-root +MONDO:0000172 muscular dystrophy-dystroglycanopathy, type B 02-disease-root +MONDO:0000173 muscular dystrophy-dystroglycanopathy, type C 02-disease-root +MONDO:0000179 Neu-Laxova syndrome 02-disease-root +MONDO:0000181 microcephaly and chorioretinopathy 02-disease-root +MONDO:0000188 GLUT1 deficiency syndrome 02-disease-root +MONDO:0000192 polyglucosan body myopathy 02-disease-root +MONDO:0000193 cortisone reductase deficiency 02-disease-root +MONDO:0000200 Zimmermann-Laband syndrome 02-disease-root +MONDO:0000209 prenatal-onset spinal muscular atrophy with congenital bone fractures 02-disease-root +MONDO:0000210 thiopurine metabolic disease 02-disease-root +MONDO:0000211 striatal degeneration, autosomal dominant 02-disease-root +MONDO:0000212 hypercalcemia, infantile 02-disease-root +MONDO:0000214 hypermanganesemia with dystonia 02-disease-root +MONDO:0000252 inflammatory diarrhea 03-disease-area +MONDO:0000253 piedra 01-disease-subtype +MONDO:0000254 cutaneous mycosis 03-disease-area +MONDO:0000255 subcutaneous mycosis 02-disease-root +MONDO:0000256 systemic mycosis 03-disease-area +MONDO:0000257 acute diarrhea 02-disease-root +MONDO:0000263 laryngotracheitis 01-disease-subtype +MONDO:0000271 tuberculous salpingitis 01-disease-subtype +MONDO:0000307 parasitic Ichthyosporea infectious disease 02-disease-root +MONDO:0000308 primary systemic mycosis 02-disease-root +MONDO:0000314 primary bacterial infectious disease 03-disease-area +MONDO:0000315 commensal bacterial infectious disease 03-disease-area +MONDO:0000316 opportunistic bacterial infectious disease 02-disease-root +MONDO:0000327 Buruli ulcer disease 02-disease-root +MONDO:0000334 multinodular goiter 02-disease-root +MONDO:0000341 paralytic poliomyelitis 01-disease-subtype +MONDO:0000351 disorder of methionine catabolism 01-disease-subtype +MONDO:0000355 Ullrich congenital muscular dystrophy 02-disease-root +MONDO:0000358 orofacial cleft 02-disease-root +MONDO:0000359 spondylocostal dysostosis 02-disease-root +MONDO:0000365 primary congenital glaucoma 01-disease-subtype +MONDO:0000368 extrapulmonary tuberculosis 02-disease-root +MONDO:0000369 abdominal tuberculosis 01-disease-subtype +MONDO:0000376 respiratory system cancer 03-disease-area +MONDO:0000380 paranasal sinus carcinoma 03-disease-area +MONDO:0000382 respiratory system benign neoplasm 03-disease-area +MONDO:0000383 benign reproductive system neoplasm 03-disease-area +MONDO:0000385 benign digestive system neoplasm 03-disease-area +MONDO:0000386 digestive system neuroendocrine tumor, grade 1/2 03-disease-area +MONDO:0000387 hypochromic microcytic anemia 01-disease-subtype +MONDO:0000389 atelosteogenesis 02-disease-root +MONDO:0000390 vitelliform macular dystrophy 02-disease-root +MONDO:0000396 spastic cerebral palsy 01-disease-subtype +MONDO:0000411 electroclinical syndrome 03-disease-area +MONDO:0000412 neonatal period electroclinical syndrome 02-disease-root +MONDO:0000413 infancy electroclinical syndrome 02-disease-root +MONDO:0000414 childhood electroclinical syndrome 02-disease-root +MONDO:0000415 adolescence-adult electroclinical syndrome 02-disease-root +MONDO:0000421 inborn serine deficiency 01-disease-subtype +MONDO:0000424 inborn vitamin B12 deficiency 01-disease-subtype +MONDO:0000425 X-linked disease 03-disease-area +MONDO:0000426 autosomal dominant disease 03-disease-area +MONDO:0000429 autosomal genetic disease 03-disease-area +MONDO:0000430 mature T-cell and NK-cell non-Hodgkin lymphoma 02-disease-root +MONDO:0000432 lymphoplasmacytic lymphoma 02-disease-root +MONDO:0000437 cerebellar ataxia 03-disease-area +MONDO:0000447 autosomal dominant polycystic liver disease 02-disease-root +MONDO:0000453 short QT syndrome 02-disease-root +MONDO:0000455 cone dystrophy 02-disease-root +MONDO:0000456 cerebral creatine deficiency syndrome 03-disease-area +MONDO:0000461 nutritional biotin deficiency 02-disease-root +MONDO:0000463 Ochoa syndrome 02-disease-root +MONDO:0000465 atrioventricular block 01-disease-subtype +MONDO:0000468 third-degree atrioventricular block 01-disease-subtype +MONDO:0000469 sinoatrial node disorder 02-disease-root +MONDO:0000470 endocardium disorder 03-disease-area +MONDO:0000473 arterial disorder 03-disease-area +MONDO:0000474 pericardium disorder 03-disease-area +MONDO:0000476 generalized dystonia 02-disease-root +MONDO:0000477 focal dystonia 03-disease-area +MONDO:0000478 multifocal dystonia 02-disease-root +MONDO:0000481 cervical dystonia 02-disease-root +MONDO:0000485 spasmodic dystonia 02-disease-root +MONDO:0000486 craniofacial dystonia 02-disease-root +MONDO:0000489 diabetic encephalopathy 02-disease-root +MONDO:0000490 glomerulosclerosis 02-disease-root +MONDO:0000502 villous adenoma 03-disease-area +MONDO:0000507 inclusion body myopathy with Paget disease of bone and frontotemporal dementia 02-disease-root +MONDO:0000508 syndromic intellectual disability 03-disease-area +MONDO:0000509 non-syndromic intellectual disability 03-disease-area +MONDO:0000514 bone squamous cell carcinoma 01-disease-subtype +MONDO:0000515 bone chondrosarcoma 01-disease-subtype +MONDO:0000521 salivary gland carcinoma 01-disease-subtype +MONDO:0000524 mixed extragonadal germ cell cancer 01-disease-subtype +MONDO:0000527 colon adenoma 01-disease-subtype +MONDO:0000530 rectum adenoma 01-disease-subtype +MONDO:0000532 lung combined type small cell adenocarcinoma 01-disease-subtype +MONDO:0000535 tonsil squamous cell carcinoma 01-disease-subtype +MONDO:0000540 small intestinal neuroendocrine tumor G1 01-disease-subtype +MONDO:0000544 mucosal melanoma 01-disease-subtype +MONDO:0000548 ovarian clear cell cancer 01-disease-subtype +MONDO:0000551 retroperitoneal neuroblastoma 01-disease-subtype +MONDO:0000565 infective endocarditis 01-disease-subtype +MONDO:0000568 autoimmune disorder of central nervous system 03-disease-area +MONDO:0000569 autoimmune disorder of endocrine system 03-disease-area +MONDO:0000572 recombinase activating gene 1 deficiency 02-disease-root +MONDO:0000573 recombinase activating gene 2 deficiency 02-disease-root +MONDO:0000577 congenital anemia 03-disease-area +MONDO:0000586 autoimmune disorder of exocrine system 03-disease-area +MONDO:0000587 autoimmune disease of ear, nose and throat 03-disease-area +MONDO:0000588 autoimmune disorder of gastrointestinal tract 03-disease-area +MONDO:0000589 autoimmune disorder of musculoskeletal system 03-disease-area +MONDO:0000590 autoimmune disorder of peripheral nervous system 03-disease-area +MONDO:0000591 intrinsic cardiomyopathy 01-disease-subtype +MONDO:0000592 specific developmental disorder 03-disease-area +MONDO:0000594 pervasive developmental disorder 03-disease-area +MONDO:0000595 sexual and gender identity disorders 02-disease-root +MONDO:0000602 autoimmune disorder of blood 03-disease-area +MONDO:0000603 autoimmune disorder of cardiovascular system 03-disease-area +MONDO:0000608 familial juvenile hyperuricemic nephropathy 02-disease-root +MONDO:0000611 pre-malignant neoplasm 03-disease-area +MONDO:0000612 lymphatic system cancer 03-disease-area +MONDO:0000620 breast benign neoplasm 03-disease-area +MONDO:0000621 immune system cancer 03-disease-area +MONDO:0000624 benign female reproductive system neoplasm 03-disease-area +MONDO:0000625 benign male reproductive system neoplasm 03-disease-area +MONDO:0000627 benign endocrine neoplasm 03-disease-area +MONDO:0000628 central nervous system organ benign neoplasm 03-disease-area +MONDO:0000629 cardiovascular organ benign neoplasm 03-disease-area +MONDO:0000631 bone benign neoplasm 03-disease-area +MONDO:0000632 uterine benign neoplasm 03-disease-area +MONDO:0000633 sensory organ benign neoplasm 03-disease-area +MONDO:0000634 thoracic benign neoplasm 03-disease-area +MONDO:0000636 musculoskeletal system benign neoplasm 03-disease-area +MONDO:0000637 musculoskeletal system cancer 03-disease-area +MONDO:0000638 benign glioma 02-disease-root +MONDO:0000640 central nervous system primitive neuroectodermal neoplasm 03-disease-area +MONDO:0000643 vulvar benign neoplasm 02-disease-root +MONDO:0000647 benign vaginal neoplasm 03-disease-area +MONDO:0000648 nervous system benign neoplasm 03-disease-area +MONDO:0000649 sensory system cancer 03-disease-area +MONDO:0000650 peritoneal benign neoplasm 03-disease-area +MONDO:0000652 integumentary system benign neoplasm 03-disease-area +MONDO:0000653 integumentary system cancer 03-disease-area +MONDO:0000654 benign connective and soft tissue neoplasm 03-disease-area +MONDO:0000661 alexithymia 01-disease-subtype +MONDO:0000665 apraxia 02-disease-root +MONDO:0000688 inherited organic acidemia 03-disease-area +MONDO:0000698 gamma-amino butyric acid metabolism disorder 01-disease-subtype +MONDO:0000700 familial hemiplegic migraine 02-disease-root +MONDO:0000701 ischemic colitis 01-disease-subtype +MONDO:0000709 Crohn ileitis 01-disease-subtype +MONDO:0000721 xanthinuria 02-disease-root +MONDO:0000722 non-syndromic synpolydactyly 01-disease-subtype +MONDO:0000726 idiopathic scoliosis 01-disease-subtype +MONDO:0000727 scapuloperoneal myopathy 01-disease-subtype +MONDO:0000728 ptosis 02-disease-root +MONDO:0000732 combined oxidative phosphorylation deficiency 03-disease-area +MONDO:0000733 cornea plana 02-disease-root +MONDO:0000734 Ohdo syndrome and variants 01-disease-subtype +MONDO:0000736 dyschromatosis universalis hereditaria 02-disease-root +MONDO:0000761 syndrome caused by partial chromosomal deletion 03-disease-area +MONDO:0000762 syndrome caused by partial chromosomal duplication 03-disease-area +MONDO:0000763 epithelial and subepithelial corneal dystrophy 02-disease-root +MONDO:0000764 epithelial-stromal TGFBI dystrophy 02-disease-root +MONDO:0000766 corneal endothelial dystrophy 02-disease-root +MONDO:0000771 allergic respiratory disease 03-disease-area +MONDO:0000812 vertebral column disorder 03-disease-area +MONDO:0000816 abdominal obesity-metabolic syndrome 02-disease-root +MONDO:0000819 anencephaly 02-disease-root +MONDO:0000820 cerebral cavernous malformation 02-disease-root +MONDO:0000824 congenital diarrhea 02-disease-root +MONDO:0000827 salmonellosis 02-disease-root +MONDO:0000828 juvenile-onset Parkinson disease 01-disease-subtype 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parasitic eyelid infestation 01-disease-subtype +MONDO:0001815 extrapyramidal and movement disease 02-disease-root +MONDO:0001822 hypolipoproteinemia 02-disease-root +MONDO:0001823 sick sinus syndrome 01-disease-subtype +MONDO:0001828 acquired color blindness 02-disease-root +MONDO:0001829 lumbosacral plexus lesion 02-disease-root +MONDO:0001834 visual pathway disorder 03-disease-area +MONDO:0001835 facial paralysis 03-disease-area +MONDO:0001841 uterine corpus epithelioid leiomyoma 01-disease-subtype +MONDO:0001847 nuclear senile cataract 01-disease-subtype +MONDO:0001852 small intestine lymphoma 01-disease-subtype +MONDO:0001858 Tietze syndrome 02-disease-root +MONDO:0001859 algoneurodystrophy 01-disease-subtype +MONDO:0001878 acquired hypertrophic pyloric stenosis 01-disease-subtype +MONDO:0001879 anus cancer 01-disease-subtype +MONDO:0001896 obstructive hydrocephalus 02-disease-root +MONDO:0001898 optic choroid disorder 03-disease-area +MONDO:0001902 congenital agammaglobulinemia 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congenital nervous system disorder 03-disease-area +MONDO:0002321 sensory peripheral neuropathy 03-disease-area +MONDO:0002326 alcohol-induced mental disorder 03-disease-area +MONDO:0002328 intracranial hemangioma 02-disease-root +MONDO:0002331 nephrosis 03-disease-area +MONDO:0002334 hematopoietic and lymphoid system neoplasm 03-disease-area +MONDO:0002336 inflammatory and toxic neuropathy 02-disease-root +MONDO:0002337 intra-abdominal hemangioma 02-disease-root +MONDO:0002341 granulomatous angiitis 01-disease-subtype +MONDO:0002342 chondromalacia 01-disease-subtype +MONDO:0002345 cervicitis 02-disease-root +MONDO:0002350 familial nephrotic syndrome 02-disease-root +MONDO:0002351 glottis cancer 02-disease-root +MONDO:0002353 glottis neoplasm 03-disease-area +MONDO:0002354 benign laryngeal neoplasm 02-disease-root +MONDO:0002355 glottis carcinoma 01-disease-subtype +MONDO:0002358 laryngeal carcinoma 02-disease-root +MONDO:0002359 periosteal chondroma 01-disease-subtype +MONDO:0002360 chondroma 02-disease-root +MONDO:0002363 papilloma 02-disease-root +MONDO:0002366 autonomic nervous system neoplasm 03-disease-area +MONDO:0002367 kidney cancer 02-disease-root +MONDO:0002368 papillary serous cystadenocarcinoma 01-disease-subtype +MONDO:0002369 cystadenoma 02-disease-root +MONDO:0002372 ovarian monodermal and highly specialized teratoma 01-disease-subtype +MONDO:0002375 sebaceous adenoma 02-disease-root +MONDO:0002376 spleen angiosarcoma 01-disease-subtype +MONDO:0002380 myoepithelial tumor 03-disease-area +MONDO:0002395 renal adenoma 02-disease-root +MONDO:0002397 liver sarcoma 01-disease-subtype +MONDO:0002398 mucinous adenofibroma 01-disease-subtype +MONDO:0002402 malignant giant cell tumor 01-disease-subtype +MONDO:0002404 liver hemangioma 01-disease-subtype +MONDO:0002405 hepatic vascular disorder 03-disease-area +MONDO:0002406 dermatitis 03-disease-area +MONDO:0002407 capillary hemangioma 02-disease-root +MONDO:0002408 hereditary hyperbilirubinemia 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disease 02-disease-root +MONDO:0002460 lacrimal system cancer 02-disease-root +MONDO:0002462 glomerulonephritis 02-disease-root +MONDO:0002463 lacrimal gland carcinoma 01-disease-subtype +MONDO:0002464 lacrimal gland cancer 01-disease-subtype +MONDO:0002465 bronchiolitis 02-disease-root +MONDO:0002466 eye carcinoma 02-disease-root +MONDO:0002468 hyperimmunoglobulin syndrome 02-disease-root +MONDO:0002470 photosensitive trichothiodystrophy 01-disease-subtype +MONDO:0002471 bursitis 01-disease-subtype +MONDO:0002472 carcinoma ex pleomorphic adenoma 02-disease-root +MONDO:0002474 primary hyperoxaluria 02-disease-root +MONDO:0002475 lacrimal gland adenocarcinoma 01-disease-subtype +MONDO:0002477 prostate neuroendocrine neoplasm 03-disease-area +MONDO:0002480 endometrioid tumor 03-disease-area +MONDO:0002481 ovarian neuroendocrine neoplasm 03-disease-area +MONDO:0002482 nipple neoplasm 03-disease-area +MONDO:0002486 lobular neoplasia 01-disease-subtype +MONDO:0002488 intraductal breast neoplasm 03-disease-area +MONDO:0002490 breast sarcoma 01-disease-subtype +MONDO:0002491 substance abuse 03-disease-area +MONDO:0002492 acute kidney failure 01-disease-subtype +MONDO:0002493 prostatic acinar adenocarcinoma 01-disease-subtype +MONDO:0002494 substance-related disorder 03-disease-area +MONDO:0002507 gingival overgrowth 02-disease-root +MONDO:0002508 gingivitis 02-disease-root +MONDO:0002512 papillary adenocarcinoma 02-disease-root +MONDO:0002513 kidney benign neoplasm 03-disease-area +MONDO:0002516 digestive system cancer 03-disease-area +MONDO:0002520 hepatic porphyria 03-disease-area +MONDO:0002523 cutaneous mucinosis 03-disease-area +MONDO:0002525 inherited lipid metabolism disorder 03-disease-area +MONDO:0002527 keratoacanthoma 02-disease-root +MONDO:0002528 synovium neoplasm 03-disease-area +MONDO:0002529 skin squamous cell carcinoma 01-disease-subtype +MONDO:0002532 squamous cell neoplasm 03-disease-area +MONDO:0002533 papillary adenoma 02-disease-root 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01-disease-subtype +MONDO:0002610 purpura 02-disease-root +MONDO:0002612 frontal lobe epilepsy 01-disease-subtype +MONDO:0002614 bone inflammation disease 03-disease-area +MONDO:0002615 xanthomatosis 02-disease-root +MONDO:0002616 mesenchymal cell neoplasm 03-disease-area +MONDO:0002618 undifferentiated high grade pleomorphic sarcoma of bone 01-disease-subtype +MONDO:0002619 bone fibrosarcoma 01-disease-subtype +MONDO:0002621 extraosseous osteosarcoma 01-disease-subtype +MONDO:0002627 chondroblastic osteosarcoma 01-disease-subtype +MONDO:0002628 peripheral osteosarcoma 01-disease-subtype +MONDO:0002629 bone osteosarcoma 02-disease-root +MONDO:0002630 small cell osteogenic sarcoma 01-disease-subtype +MONDO:0002631 conventional osteosarcoma 01-disease-subtype +MONDO:0002633 cranial nerve neoplasm 03-disease-area +MONDO:0002635 periodontal disorder 02-disease-root +MONDO:0002647 laryngitis 02-disease-root +MONDO:0002652 anus adenocarcinoma 01-disease-subtype +MONDO:0002654 uterine disorder 03-disease-area +MONDO:0002661 uveal disorder 03-disease-area +MONDO:0002664 extrahepatic bile duct signet ring cell carcinoma 01-disease-subtype +MONDO:0002665 extrahepatic bile duct adenocarcinoma 01-disease-subtype +MONDO:0002674 stricture or kinking of ureter 02-disease-root +MONDO:0002677 conventional fibrosarcoma 01-disease-subtype +MONDO:0002678 pediatric fibrosarcoma 01-disease-subtype +MONDO:0002679 cerebral infarction 03-disease-area +MONDO:0002691 liver cancer 02-disease-root +MONDO:0002708 retinitis 01-disease-subtype +MONDO:0002715 uterine cancer 03-disease-area +MONDO:0002718 central nervous system teratoma 01-disease-subtype +MONDO:0002720 sella turcica neoplasm 03-disease-area +MONDO:0002721 necrosis of pituitary 03-disease-area +MONDO:0002722 olfactory nerve neoplasm 03-disease-area +MONDO:0002727 olfactory nerve disorder 03-disease-area +MONDO:0002730 childhood kidney neoplasm 03-disease-area +MONDO:0002732 lung benign neoplasm 03-disease-area +MONDO:0002742 cervical mucinous adenocarcinoma 01-disease-subtype +MONDO:0002746 fallopian tube adenocarcinoma 01-disease-subtype +MONDO:0002749 extracranial neuroblastoma 01-disease-subtype +MONDO:0002764 urethra squamous cell carcinoma 01-disease-subtype +MONDO:0002775 anovulation 02-disease-root +MONDO:0002785 skull base neoplasm 03-disease-area +MONDO:0002786 diencephalic cancer 01-disease-subtype +MONDO:0002798 childhood central nervous system primitive neuroectodermal neoplasm 03-disease-area +MONDO:0002805 hidradenoma 01-disease-subtype +MONDO:0002812 infectious otitis interna 01-disease-subtype +MONDO:0002813 lipomatous cancer 02-disease-root +MONDO:0002814 adrenal carcinoma 01-disease-subtype +MONDO:0002816 adrenal cortex disorder 03-disease-area +MONDO:0002817 adrenal gland cancer 01-disease-subtype +MONDO:0002824 extrinsic cardiomyopathy 01-disease-subtype +MONDO:0002836 urethra transitional cell carcinoma 01-disease-subtype +MONDO:0002837 sarcomatoid transitional cell carcinoma 01-disease-subtype +MONDO:0002839 leather-bottle stomach 01-disease-subtype +MONDO:0002847 skeletal muscle cancer 02-disease-root +MONDO:0002848 skeletal muscle neoplasm 03-disease-area +MONDO:0002852 mediastinum sarcoma 01-disease-subtype +MONDO:0002854 prostate sarcoma 01-disease-subtype +MONDO:0002855 ectomesenchymoma 02-disease-root +MONDO:0002863 rhabdomyosarcoma with mixed embryonal and alveolar features 01-disease-subtype +MONDO:0002866 duodenal disorder 03-disease-area +MONDO:0002871 testicular trophoblastic tumor 01-disease-subtype +MONDO:0002872 trophoblastic neoplasm 03-disease-area +MONDO:0002874 testicular pure germ cell tumor 01-disease-subtype +MONDO:0002875 parasitic ectoparasitic infectious disease 03-disease-area +MONDO:0002876 cervical adenosarcoma 01-disease-subtype +MONDO:0002877 cervical carcinosarcoma 01-disease-subtype +MONDO:0002878 uterine corpus adenosarcoma 01-disease-subtype +MONDO:0002879 uterine body mixed cancer 01-disease-subtype +MONDO:0002882 colon neuroendocrine neoplasm 03-disease-area +MONDO:0002883 intestinal neuroendocrine neoplasm 03-disease-area +MONDO:0002884 nail disorder 03-disease-area +MONDO:0002886 common bile duct disorder 03-disease-area +MONDO:0002887 bile duct disorder 03-disease-area +MONDO:0002898 skin cancer 02-disease-root +MONDO:0002901 blood group incompatibility 03-disease-area +MONDO:0002907 intracranial thrombosis 01-disease-subtype +MONDO:0002912 brainstem cancer 01-disease-subtype +MONDO:0002913 cerebellar neoplasm 03-disease-area +MONDO:0002914 childhood brain stem neoplasm 03-disease-area +MONDO:0002915 childhood infratentorial neoplasm 03-disease-area +MONDO:0002917 disorder of pilosebaceous unit 03-disease-area +MONDO:0002921 congenital structural myopathy 03-disease-area +MONDO:0002924 smooth muscle cancer 01-disease-subtype +MONDO:0002927 spindle cell sarcoma 02-disease-root +MONDO:0002928 carcinosarcoma 02-disease-root +MONDO:0002930 kidney sarcoma 01-disease-subtype +MONDO:0002933 osteosclerosis 03-disease-area +MONDO:0002959 radiculopathy 02-disease-root +MONDO:0002970 ciliary body disorder 03-disease-area +MONDO:0002973 epithelioid cell melanoma 01-disease-subtype +MONDO:0002974 cervical cancer 02-disease-root +MONDO:0002977 autoimmune disorder of the nervous system 03-disease-area +MONDO:0002979 papillary squamous carcinoma 01-disease-subtype +MONDO:0002989 benign fibrous histiocytoma 02-disease-root +MONDO:0002995 small intestine neuroendocrine tumor, well differentiated, low or intermediate grade 02-disease-root +MONDO:0002996 cavernous sinus meningioma 01-disease-subtype +MONDO:0002998 skull base meningioma 01-disease-subtype +MONDO:0003000 central nervous system germ cell tumor 03-disease-area +MONDO:0003001 seminoma 01-disease-subtype +MONDO:0003002 dysgerminoma 01-disease-subtype +MONDO:0003005 macular retinal edema 01-disease-subtype +MONDO:0003008 hereditary renal cell carcinoma 02-disease-root +MONDO:0003019 potassium deficiency disease 02-disease-root +MONDO:0003035 ovarian angiosarcoma 01-disease-subtype +MONDO:0003036 mucoepidermoid carcinoma 02-disease-root +MONDO:0003037 hypotrichosis 02-disease-root +MONDO:0003049 ovarian large-cell neuroendocrine carcinoma 01-disease-subtype +MONDO:0003059 bile duct cancer 01-disease-subtype +MONDO:0003060 biliary tract cancer 01-disease-subtype +MONDO:0003061 benign muscle neoplasm 03-disease-area +MONDO:0003062 intestinal benign neoplasm 03-disease-area +MONDO:0003064 inverted transitional cell papilloma 01-disease-subtype +MONDO:0003076 unilateral retinoblastoma 01-disease-subtype +MONDO:0003079 mastocytoma 02-disease-root +MONDO:0003081 thalamic disorder 03-disease-area +MONDO:0003090 extrahepatic bile duct carcinoma 01-disease-subtype +MONDO:0003098 mediastinal neural neoplasm 03-disease-area +MONDO:0003107 infratentorial cancer 01-disease-subtype +MONDO:0003110 skin hemangioma 02-disease-root +MONDO:0003111 gastric neuroendocrine neoplasm 03-disease-area +MONDO:0003112 malignant gastric germ cell tumor 01-disease-subtype +MONDO:0003113 extragonadal germ cell cancer 01-disease-subtype +MONDO:0003122 striatonigral degeneration 02-disease-root +MONDO:0003125 testicular sex cord-stromal neoplasm 02-disease-root +MONDO:0003142 intracranial primitive neuroectodermal tumor 01-disease-subtype +MONDO:0003143 angiokeratoma 01-disease-subtype +MONDO:0003157 disappearing bone disease 03-disease-area +MONDO:0003158 malignant myoepithelioma 02-disease-root +MONDO:0003159 vascular hemostatic disease 02-disease-root +MONDO:0003165 cerebellar astrocytoma 02-disease-root +MONDO:0003168 cerebellar pilocytic astrocytoma 01-disease-subtype +MONDO:0003169 diencephalic astrocytomas 01-disease-subtype +MONDO:0003173 brain stem astrocytic neoplasm 01-disease-subtype +MONDO:0003175 salivary gland adenoid cystic carcinoma 01-disease-subtype +MONDO:0003180 cutaneous adenocystic carcinoma 01-disease-subtype +MONDO:0003181 lung adenoid cystic carcinoma 01-disease-subtype +MONDO:0003182 anterior horn disorder 03-disease-area +MONDO:0003190 middle ear carcinoma 01-disease-subtype +MONDO:0003193 bile duct adenocarcinoma 01-disease-subtype +MONDO:0003194 hemangioma of lung 02-disease-root +MONDO:0003196 appendix carcinoma 01-disease-subtype +MONDO:0003197 granular cell carcinoma 01-disease-subtype +MONDO:0003199 anal carcinoma 01-disease-subtype +MONDO:0003200 urethra adenocarcinoma 01-disease-subtype +MONDO:0003204 villous adenocarcinoma 02-disease-root +MONDO:0003206 acquired hemangioma 02-disease-root +MONDO:0003212 nasal cavity carcinoma 01-disease-subtype +MONDO:0003214 apocrine adenocarcinoma 01-disease-subtype +MONDO:0003215 apocrine sweat gland cancer 01-disease-subtype +MONDO:0003218 adenocarcinoma in situ 02-disease-root +MONDO:0003219 gastroesophageal junction adenocarcinoma 02-disease-root +MONDO:0003222 central nervous system melanocytic neoplasm 03-disease-area +MONDO:0003223 meninges hemangiopericytoma 01-disease-subtype +MONDO:0003225 bone marrow disorder 03-disease-area +MONDO:0003236 atypical polypoid adenomyoma 01-disease-subtype +MONDO:0003237 adenomyoma of uterine corpus 01-disease-subtype +MONDO:0003241 central nervous system hemangioma 03-disease-area +MONDO:0003243 hepatocellular clear cell carcinoma 01-disease-subtype +MONDO:0003249 pineal gland cancer 01-disease-subtype +MONDO:0003252 granular cell cancer 01-disease-subtype +MONDO:0003257 posterior pituitary gland neoplasm 03-disease-area +MONDO:0003263 childhood cerebellar neoplasm 02-disease-root +MONDO:0003265 adjustment disorder 02-disease-root +MONDO:0003268 mixed glioma 03-disease-area +MONDO:0003274 thoracic cancer 03-disease-area +MONDO:0003275 middle ear cancer 02-disease-root +MONDO:0003276 middle ear disorder 03-disease-area +MONDO:0003277 malignant ear neoplasm 03-disease-area +MONDO:0003291 leiomyoma cutis 01-disease-subtype +MONDO:0003295 leiomyomatosis 01-disease-subtype +MONDO:0003321 hereditary Wilms tumor 02-disease-root +MONDO:0003331 ovarian monodermal teratoma 01-disease-subtype +MONDO:0003334 demyelinating polyneuropathy 02-disease-root +MONDO:0003335 chronic polyneuropathy 02-disease-root +MONDO:0003337 acute hemorrhagic encephalitis 02-disease-root +MONDO:0003342 benign perivascular tumor 02-disease-root +MONDO:0003346 central nervous system vasculitis 03-disease-area +MONDO:0003350 granular cell leiomyosarcoma 01-disease-subtype +MONDO:0003353 heart leiomyosarcoma 01-disease-subtype +MONDO:0003354 heart sarcoma 01-disease-subtype +MONDO:0003363 malignant dermis tumor 01-disease-subtype +MONDO:0003366 hydrarthrosis 02-disease-root +MONDO:0003376 mediastinum leiomyosarcoma 01-disease-subtype +MONDO:0003393 thymus gland disorder 03-disease-area +MONDO:0003403 testicular non-seminomatous germ cell cancer 01-disease-subtype +MONDO:0003406 sleep-wake disorder 03-disease-area +MONDO:0003408 ovarian primitive germ cell tumor 01-disease-subtype +MONDO:0003409 colonic disorder 03-disease-area +MONDO:0003413 hair follicle neoplasm 03-disease-area +MONDO:0003429 functioning pituitary gland adenoma 02-disease-root +MONDO:0003430 prolactin producing pituitary tumor 02-disease-root +MONDO:0003438 combined small cell lung carcinoma 01-disease-subtype +MONDO:0003441 dystonic disorder 03-disease-area +MONDO:0003443 papillary urothelial neoplasm 03-disease-area +MONDO:0003446 papillary hidradenoma 01-disease-subtype +MONDO:0003448 benign spiradenoma 01-disease-subtype +MONDO:0003453 conjunctival intraepithelial neoplasm 02-disease-root +MONDO:0003454 conjunctival cancer 02-disease-root +MONDO:0003455 bile duct papillary neoplasm 01-disease-subtype +MONDO:0003468 biphasic synovial sarcoma 01-disease-subtype +MONDO:0003472 lice infestation 02-disease-root +MONDO:0003473 spinal cord ependymoma 01-disease-subtype +MONDO:0003478 childhood ependymoma 01-disease-subtype +MONDO:0003495 ovarian squamous cell neoplasm 03-disease-area +MONDO:0003500 squamous cell bile duct carcinoma 01-disease-subtype +MONDO:0003510 malignant testicular germ cell tumor 01-disease-subtype +MONDO:0003512 mediastinal mesenchymal tumor 03-disease-area +MONDO:0003519 malignant syringoma 01-disease-subtype +MONDO:0003523 gastrin-producing neuroendocrine tumor 02-disease-root +MONDO:0003531 papillary eccrine carcinoma 01-disease-subtype +MONDO:0003537 precursor T-lymphoblastic lymphoma/leukemia 02-disease-root +MONDO:0003540 acute T cell leukemia 01-disease-subtype +MONDO:0003541 adult acute lymphoblastic leukemia 01-disease-subtype +MONDO:0003544 spinal cord cancer 02-disease-root +MONDO:0003546 third cranial nerve disorder 03-disease-area +MONDO:0003549 adenosquamous bile duct carcinoma 01-disease-subtype +MONDO:0003561 malignant giant cell tumor of soft parts 01-disease-subtype +MONDO:0003569 cranial nerve neuropathy 03-disease-area +MONDO:0003572 nasopharyngeal type undifferentiated carcinoma 02-disease-root +MONDO:0003578 extragonadal nonseminomatous germ cell tumor 01-disease-subtype +MONDO:0003582 hereditary breast ovarian cancer syndrome 02-disease-root +MONDO:0003594 mixed liposarcoma 01-disease-subtype +MONDO:0003603 non-functioning pituitary gland neoplasm 03-disease-area +MONDO:0003604 functioning pituitary gland neoplasm 03-disease-area +MONDO:0003606 adrenal medulla cancer 01-disease-subtype +MONDO:0003607 neuritis of upper limb 01-disease-subtype +MONDO:0003608 optic atrophy 03-disease-area +MONDO:0003619 salpingitis 01-disease-subtype +MONDO:0003624 acinic cell breast carcinoma 01-disease-subtype +MONDO:0003632 endocervicitis 01-disease-subtype +MONDO:0003641 central nervous system hematopoietic neoplasm 03-disease-area +MONDO:0003646 rectum neuroendocrine neoplasm 03-disease-area +MONDO:0003649 esophageal neuroendocrine tumor 02-disease-root +MONDO:0003659 pediatric lymphoma 03-disease-area +MONDO:0003660 adult lymphoma 02-disease-root +MONDO:0003661 breast lymphoma 01-disease-subtype +MONDO:0003668 extragonadal seminoma 01-disease-subtype +MONDO:0003680 periosteal chondrosarcoma 01-disease-subtype +MONDO:0003681 myxoid chondrosarcoma 01-disease-subtype +MONDO:0003684 clear cell chondrosarcoma 01-disease-subtype +MONDO:0003686 apocrine sweat gland neoplasm 03-disease-area +MONDO:0003688 well differentiated papillary mesothelioma 01-disease-subtype +MONDO:0003689 familial hemolytic anemia 03-disease-area +MONDO:0003710 ovarian mixed germ cell neoplasm 01-disease-subtype +MONDO:0003714 bladder urachal squamous cell carcinoma 01-disease-subtype +MONDO:0003715 bladder urachal carcinoma 01-disease-subtype +MONDO:0003719 renal pelvis neoplasm 03-disease-area +MONDO:0003724 non-proliferative fibrocystic change of the breast 02-disease-root +MONDO:0003735 central nervous system immature teratoma 01-disease-subtype +MONDO:0003739 selective immunoglobulin deficiency disease 02-disease-root +MONDO:0003744 spindle cell intraocular melanoma 01-disease-subtype +MONDO:0003751 childhood germ cell tumor 01-disease-subtype +MONDO:0003755 urinary tract non-invasive transitional cell neoplasm 03-disease-area +MONDO:0003756 ovarian mucinous neoplasm 03-disease-area +MONDO:0003761 leptomeningeal melanoma 01-disease-subtype +MONDO:0003762 malignant leptomeningeal tumor 01-disease-subtype +MONDO:0003766 thalamic cancer 01-disease-subtype +MONDO:0003778 inborn errors of immunity 03-disease-area +MONDO:0003780 T-cell immunodeficiency 03-disease-area +MONDO:0003783 lymphopenia 02-disease-root +MONDO:0003789 hereditary papillary renal cell carcinoma 01-disease-subtype +MONDO:0003805 malignant pericardial mesothelioma 01-disease-subtype +MONDO:0003812 ovarian endometrial cancer 02-disease-root +MONDO:0003816 articular cartilage disorder 02-disease-root +MONDO:0003827 transient hypogammaglobulinemia 01-disease-subtype +MONDO:0003832 complement deficiency 03-disease-area +MONDO:0003837 TSH producing pituitary tumor 01-disease-subtype +MONDO:0003865 acral lentiginous melanoma 01-disease-subtype +MONDO:0003869 childhood brain stem glioma 01-disease-subtype +MONDO:0003890 infiltrating bladder urothelial carcinoma 01-disease-subtype +MONDO:0003892 acinar lung adenocarcinoma 01-disease-subtype +MONDO:0003901 cerebellar hemangioblastoma 01-disease-subtype +MONDO:0003915 cortical thymoma 01-disease-subtype +MONDO:0003916 overnutrition 03-disease-area +MONDO:0003922 ovarian clear cell malignant adenofibroma 01-disease-subtype +MONDO:0003937 spondylitis 02-disease-root +MONDO:0003939 muscle tissue disorder 03-disease-area +MONDO:0003947 hyper-IgM syndrome 02-disease-root +MONDO:0003978 colon small cell neuroendocrine carcinoma 01-disease-subtype +MONDO:0003987 lung lymphoma 01-disease-subtype +MONDO:0004001 compartment syndrome 02-disease-root +MONDO:0004007 breast intraductal proliferative lesion 02-disease-root +MONDO:0004021 mediastinal malignant lymphoma 01-disease-subtype +MONDO:0004033 familial ovarian carcinoma 01-disease-subtype +MONDO:0004037 retinal edema 02-disease-root +MONDO:0004041 urothelial papilloma 01-disease-subtype +MONDO:0004050 telangiectatic osteogenic sarcoma 01-disease-subtype +MONDO:0004069 inborn mitochondrial metabolism disorder 03-disease-area +MONDO:0004087 basaloid large cell lung carcinoma 01-disease-subtype +MONDO:0004093 esophageal basaloid carcinoma 01-disease-subtype +MONDO:0004095 B-cell neoplasm 03-disease-area +MONDO:0004111 refractory hematologic cancer 02-disease-root +MONDO:0004116 esophageal small cell neuroendocrine carcinoma 01-disease-subtype +MONDO:0004126 thyroiditis 03-disease-area +MONDO:0004139 normocytic anemia 01-disease-subtype +MONDO:0004163 bladder urachal urothelial carcinoma 01-disease-subtype +MONDO:0004166 hereditary fallopian tube carcinoma 01-disease-subtype +MONDO:0004169 premenstrual tension 02-disease-root +MONDO:0004180 benign urinary system neoplasm 03-disease-area +MONDO:0004183 axonal neuropathy 02-disease-root +MONDO:0004187 nodular fasciitis 01-disease-subtype +MONDO:0004192 urethra cancer 02-disease-root +MONDO:0004202 adrenal medulla carcinoma 01-disease-subtype +MONDO:0004222 ovarian clear cell cystadenocarcinoma 01-disease-subtype +MONDO:0004245 ependymal tumor of brain 01-disease-subtype +MONDO:0004247 peptic ulcer disease 03-disease-area +MONDO:0004251 small intestine neoplasm 03-disease-area +MONDO:0004255 Wolffian adnexal tumor 02-disease-root +MONDO:0004259 endocervical carcinoma 01-disease-subtype +MONDO:0004263 pediatric infratentorial ependymoblastoma 01-disease-subtype +MONDO:0004270 breast ductal adenoma 01-disease-subtype +MONDO:0004301 fibrosarcomatous osteosarcoma 01-disease-subtype +MONDO:0004321 endometrial mixed adenocarcinoma 01-disease-subtype +MONDO:0004331 bladder urachal adenocarcinoma 01-disease-subtype +MONDO:0004338 retinal cell cancer 01-disease-subtype +MONDO:0004346 signet ring cell intrahepatic cholangiocarcinoma 01-disease-subtype +MONDO:0004348 retinal telangiectasia 02-disease-root +MONDO:0004355 childhood leukemia 03-disease-area +MONDO:0004357 carcinoma of supraglottis 01-disease-subtype +MONDO:0004359 delusional disorder 02-disease-root +MONDO:0004379 female breast carcinoma 01-disease-subtype +MONDO:0004380 dendritic cell sarcoma 02-disease-root +MONDO:0004386 uterine corpus atypical polypoid adenomyoma 01-disease-subtype +MONDO:0004389 mite infestation 02-disease-root +MONDO:0004392 intracranial extraskeletal myxoid chondrosarcoma 01-disease-subtype +MONDO:0004403 childhood precursor T-lymphoblastic lymphoma/leukemia 01-disease-subtype +MONDO:0004427 supraglottis neoplasm 03-disease-area +MONDO:0004435 liver fibrosarcoma 01-disease-subtype +MONDO:0004458 bladder mixed adenocarcinoma 01-disease-subtype +MONDO:0004479 malignant childhood germ cell neoplasm 01-disease-subtype +MONDO:0004483 thyroid gland oncocytic adenoma 01-disease-subtype +MONDO:0004497 tertiary syphilis 01-disease-subtype +MONDO:0004514 chronic rhinitis 02-disease-root +MONDO:0004526 mixed endometrial stromal and smooth muscle tumor 02-disease-root +MONDO:0004527 congenital granular cell tumor 01-disease-subtype +MONDO:0004528 lymph node palisaded myofibroblastoma 01-disease-subtype +MONDO:0004532 auditory system cancer 03-disease-area +MONDO:0004557 congenital fibrosarcoma 01-disease-subtype +MONDO:0004565 intestinal obstruction 03-disease-area +MONDO:0004566 postgastrectomy syndrome 03-disease-area +MONDO:0004567 ileus 02-disease-root +MONDO:0004569 brachial plexus neuropathy from injury 02-disease-root +MONDO:0004571 intestinal impaction 02-disease-root +MONDO:0004573 ariboflavinosis 02-disease-root +MONDO:0004579 retinoschisis 02-disease-root +MONDO:0004580 retinal degeneration 03-disease-area +MONDO:0004582 rheumatic myocarditis 01-disease-subtype +MONDO:0004586 rheumatoid lung disease 02-disease-root +MONDO:0004587 hereditary night blindness 01-disease-subtype +MONDO:0004588 night blindness 02-disease-root +MONDO:0004593 Bartholin duct cyst 02-disease-root +MONDO:0004596 cor pulmonale 03-disease-area +MONDO:0004600 monocytic leukemia 02-disease-root +MONDO:0004603 collagenopathy 02-disease-root +MONDO:0004617 recurrent hypersomnia 02-disease-root +MONDO:0004618 diplegia of upper limb 02-disease-root +MONDO:0004627 duodenitis 01-disease-subtype +MONDO:0004630 substance-induced psychosis 02-disease-root +MONDO:0004634 vein disorder 03-disease-area +MONDO:0004640 alcoholic gastritis 01-disease-subtype +MONDO:0004641 skin carcinoma in situ 02-disease-root +MONDO:0004643 myeloid leukemia 02-disease-root +MONDO:0004647 in situ carcinoma 03-disease-area +MONDO:0004649 anaerobic pneumonia 01-disease-subtype +MONDO:0004651 smallpox 02-disease-root +MONDO:0004657 disseminated chorioretinitis 01-disease-subtype +MONDO:0004658 breast carcinoma in situ 01-disease-subtype +MONDO:0004663 colon carcinoma in situ 01-disease-subtype +MONDO:0004669 salivary gland cancer 02-disease-root +MONDO:0004670 lupus erythematosus 02-disease-root +MONDO:0004671 penis carcinoma in situ 01-disease-subtype +MONDO:0004674 chorioretinitis 02-disease-root +MONDO:0004675 mitochondrial encephalomyopathy 02-disease-root +MONDO:0004678 dermatophytosis 01-disease-subtype +MONDO:0004680 primary thrombocytopenia 02-disease-root +MONDO:0004681 learning disability 02-disease-root +MONDO:0004685 Waldeyer's ring cancer 01-disease-subtype +MONDO:0004686 lattice corneal dystrophy 01-disease-subtype +MONDO:0004689 inborn metal metabolism disorder 03-disease-area +MONDO:0004693 squamous carcinoma in situ 01-disease-subtype +MONDO:0004695 liver lymphoma 01-disease-subtype +MONDO:0004697 esophageal leukoplakia 01-disease-subtype +MONDO:0004698 intestine carcinoma in situ 02-disease-root +MONDO:0004699 gastrointestinal lymphoma 03-disease-area +MONDO:0004700 parotid gland cancer 01-disease-subtype +MONDO:0004705 liver solitary fibrous tumor 01-disease-subtype +MONDO:0004710 uterus carcinoma in situ 02-disease-root +MONDO:0004724 submandibular gland cancer 01-disease-subtype +MONDO:0004725 rectum carcinoma in situ 01-disease-subtype +MONDO:0004727 vestibule of mouth cancer 02-disease-root +MONDO:0004730 speech disorder 02-disease-root +MONDO:0004731 central sleep apnea syndrome 01-disease-subtype +MONDO:0004736 inherited amino acid metabolic disorder 03-disease-area +MONDO:0004737 homocystinuria 02-disease-root +MONDO:0004738 histidine metabolism disease 02-disease-root +MONDO:0004739 urea cycle disorder 02-disease-root +MONDO:0004741 tyrosinemia 02-disease-root +MONDO:0004746 myopathy of extraocular muscle 03-disease-area +MONDO:0004748 lip disorder 03-disease-area +MONDO:0004750 language disorder 02-disease-root +MONDO:0004751 disease of orbital part of eye adnexa 02-disease-root +MONDO:0004756 nasal cavity neoplasm 03-disease-area +MONDO:0004768 keratoconjunctivitis 01-disease-subtype +MONDO:0004777 acute laryngitis 01-disease-subtype +MONDO:0004782 diabetes insipidus 02-disease-root +MONDO:0004784 allergic asthma 01-disease-subtype +MONDO:0004789 cholangitis 02-disease-root +MONDO:0004790 fatty liver disease 03-disease-area +MONDO:0004800 chronic dacryoadenitis 01-disease-subtype +MONDO:0004804 dacryoadenitis 02-disease-root +MONDO:0004805 leukocyte disorder 03-disease-area +MONDO:0004812 acute dacryoadenitis 01-disease-subtype +MONDO:0004820 peripheral nerve schwannoma 01-disease-subtype +MONDO:0004821 nasopharyngeal disorder 03-disease-area +MONDO:0004822 bronchiectasis 02-disease-root +MONDO:0004828 lower urinary tract calculus 02-disease-root +MONDO:0004830 fasciitis 02-disease-root +MONDO:0004843 pathologic nystagmus 02-disease-root +MONDO:0004847 senile cataract 01-disease-subtype +MONDO:0004848 ulcerative stomatitis 02-disease-root +MONDO:0004857 tendinitis 01-disease-subtype +MONDO:0004860 vitreous disorder 03-disease-area +MONDO:0004863 purulent endophthalmitis 01-disease-subtype +MONDO:0004867 upper respiratory tract disorder 03-disease-area +MONDO:0004869 pelvic varices 02-disease-root +MONDO:0004874 ganglion or cyst of synovium/tendon/bursa 02-disease-root +MONDO:0004880 bowel dysfunction 03-disease-area +MONDO:0004884 eye degenerative disorder 03-disease-area +MONDO:0004885 choroidal sclerosis 02-disease-root +MONDO:0004891 hyperopia 02-disease-root +MONDO:0004892 refractive error 03-disease-area +MONDO:0004897 hypotropia 02-disease-root +MONDO:0004900 peripheral vertigo 02-disease-root +MONDO:0004907 alopecia 03-disease-area +MONDO:0004917 internal hordeolum 01-disease-subtype +MONDO:0004928 lymph node disorder 03-disease-area +MONDO:0004933 hypoplastic left heart syndrome 02-disease-root +MONDO:0004938 substance dependence 03-disease-area +MONDO:0004943 orbit sarcoma 01-disease-subtype +MONDO:0004944 neurosyphilis 01-disease-subtype +MONDO:0004975 Alzheimer disease 02-disease-root +MONDO:0004976 amyotrophic lateral sclerosis 02-disease-root +MONDO:0004979 asthma 02-disease-root +MONDO:0004986 urinary bladder carcinoma 01-disease-subtype +MONDO:0005053 ischemic disease 03-disease-area +MONDO:0005090 schizophrenia 02-disease-root +MONDO:0005094 hemangiopericytoma 02-disease-root +MONDO:0005129 cataract 02-disease-root +MONDO:0005147 type 1 diabetes mellitus 02-disease-root +MONDO:0005148 type 2 diabetes mellitus 02-disease-root +MONDO:0005149 pulmonary hypertension 01-disease-subtype +MONDO:0005178 osteoarthritis 02-disease-root +MONDO:0005180 Parkinson disease 02-disease-root +MONDO:0005232 large cell carcinoma 03-disease-area +MONDO:0005247 bacterial urinary tract infection 02-disease-root +MONDO:0005271 allergic disease 03-disease-area +MONDO:0005277 migraine disorder 02-disease-root +MONDO:0005299 brain ischemia 02-disease-root +MONDO:0005301 multiple sclerosis 02-disease-root +MONDO:0005321 Fuchs' endothelial dystrophy 02-disease-root +MONDO:0005341 skin basal cell carcinoma 02-disease-root +MONDO:0005374 bone marrow neoplasm 03-disease-area +MONDO:0005405 childhood onset asthma 01-disease-subtype +MONDO:0005411 gallbladder cancer 02-disease-root +MONDO:0005475 migraine with aura 01-disease-subtype +MONDO:0005499 brain glioma 01-disease-subtype +MONDO:0005508 hereditary multiple osteochondromas 01-disease-subtype +MONDO:0005514 nanophthalmia 02-disease-root +MONDO:0005784 hantavirus hemorrhagic fever with renal syndrome 01-disease-subtype +MONDO:0005835 Lynch syndrome 01-disease-subtype +MONDO:0006037 hydrolethalus syndrome 02-disease-root +MONDO:0006058 Wilms tumor 03-disease-area +MONDO:0006412 sinus histiocytosis with massive lymphadenopathy 01-disease-subtype +MONDO:0006507 hereditary hemochromatosis 02-disease-root +MONDO:0006596 photoallergic dermatitis 01-disease-subtype +MONDO:0006751 Erysipelothrix infectious disease 02-disease-root +MONDO:0007029 branchio-oto-renal syndrome 02-disease-root +MONDO:0007031 familial abdominal aortic aneurysm 02-disease-root +MONDO:0007032 prune belly syndrome 01-disease-subtype +MONDO:0007034 Adams-Oliver syndrome 02-disease-root +MONDO:0007037 achondroplasia 02-disease-root +MONDO:0007039 neurofibromatosis type 2 01-disease-subtype +MONDO:0007040 Sakati-Nyhan syndrome 01-disease-subtype +MONDO:0007041 apert syndrome 01-disease-subtype +MONDO:0007042 Saethre-Chotzen syndrome 01-disease-subtype +MONDO:0007043 Pfeiffer syndrome 01-disease-subtype +MONDO:0007045 acrofacial dysostosis, Catania type 01-disease-subtype +MONDO:0007051 acromegaloid facial appearance syndrome 02-disease-root +MONDO:0007055 acromicric dysplasia 01-disease-subtype +MONDO:0007056 acroosteolysis 02-disease-root +MONDO:0007057 acroosteolysis dominant type 01-disease-subtype +MONDO:0007058 acropectorovertebral dysplasia 01-disease-subtype +MONDO:0007059 acrorenal syndrome 02-disease-root +MONDO:0007062 congenital absence/hypoplasia of fingers excluding thumb, unilateral 01-disease-subtype +MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 01-disease-subtype +MONDO:0007066 adenosine triphosphatase deficiency, anemia due to 02-disease-root +MONDO:0007068 adenylosuccinate lyase deficiency 01-disease-subtype +MONDO:0007072 ADULT syndrome 01-disease-subtype +MONDO:0007073 hypoglossia-hypodactyly syndrome 01-disease-subtype +MONDO:0007077 Tietz syndrome 02-disease-root +MONDO:0007078 pseudohypoparathyroidism type 1A 01-disease-subtype +MONDO:0007079 alcohol dependence 02-disease-root +MONDO:0007080 glucocorticoid-remediable aldosteronism 01-disease-subtype +MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia 01-disease-subtype +MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome 02-disease-root +MONDO:0007086 autosomal dominant Alport syndrome 01-disease-subtype +MONDO:0007093 hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism 01-disease-subtype +MONDO:0007095 ameloonychohypohidrotic syndrome 02-disease-root +MONDO:0007097 Finnish type amyloidosis 02-disease-root +MONDO:0007098 ACys amyloidosis 01-disease-subtype +MONDO:0007099 familial visceral amyloidosis 02-disease-root +MONDO:0007101 familial primary localized cutaneous amyloidosis 02-disease-root +MONDO:0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 01-disease-subtype +MONDO:0007109 congenital dyserythropoietic anemia type 3 01-disease-subtype +MONDO:0007112 interventricular septum aneurysm 01-disease-subtype +MONDO:0007113 Angelman syndrome 02-disease-root +MONDO:0007114 angel-shaped phalango-epiphyseal dysplasia 01-disease-subtype +MONDO:0007116 hereditary neurocutaneous angioma 02-disease-root +MONDO:0007119 isolated aniridia 02-disease-root +MONDO:0007120 aniridia-absent patella syndrome 01-disease-subtype +MONDO:0007123 ankyloblepharon filiforme adnatum-cleft palate syndrome 02-disease-root +MONDO:0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome 02-disease-root +MONDO:0007131 anonychia with flexural pigmentation 01-disease-subtype +MONDO:0007134 Cooks syndrome 01-disease-subtype +MONDO:0007142 Townes-Brocks syndrome 02-disease-root +MONDO:0007143 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome 02-disease-root +MONDO:0007145 aplasia cutis congenita 02-disease-root +MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 01-disease-subtype +MONDO:0007154 arteriovenous malformations of the brain 01-disease-subtype +MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome 01-disease-subtype +MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome 01-disease-subtype +MONDO:0007160 Stickler syndrome type 1 01-disease-subtype +MONDO:0007163 episodic ataxia type 2 01-disease-subtype +MONDO:0007164 spastic ataxia 1 01-disease-subtype +MONDO:0007165 spastic ataxia 7 01-disease-subtype +MONDO:0007167 atelosteogenesis type I 01-disease-subtype +MONDO:0007168 atelosteogenesis type III 01-disease-subtype +MONDO:0007172 atrial septal defect 1 01-disease-subtype +MONDO:0007173 atrial septal defect 7 01-disease-subtype +MONDO:0007174 Lown-Ganong-Levine syndrome 02-disease-root +MONDO:0007176 helicoid peripapillary chorioretinal degeneration 02-disease-root +MONDO:0007177 auriculoosteodysplasia 02-disease-root +MONDO:0007182 Machado-Joseph disease 01-disease-subtype +MONDO:0007185 Banki syndrome 02-disease-root +MONDO:0007187 nevoid basal cell carcinoma syndrome 02-disease-root +MONDO:0007188 primary basilar invagination 02-disease-root +MONDO:0007194 familial bicuspid aortic valve 02-disease-root +MONDO:0007197 bladder diverticulum 02-disease-root +MONDO:0007198 Ascher syndrome 02-disease-root +MONDO:0007200 blepharonasofacial malformation syndrome 02-disease-root +MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome 01-disease-subtype +MONDO:0007202 blepharoptosis-myopia-ectopia lentis syndrome 02-disease-root +MONDO:0007203 blue rubber bleb nevus 02-disease-root +MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome 02-disease-root +MONDO:0007207 Böök syndrome 02-disease-root +MONDO:0007208 Boomerang dysplasia 02-disease-root +MONDO:0007209 Weismann-Netter syndrome 01-disease-subtype +MONDO:0007211 brachydactyly-arterial hypertension syndrome 01-disease-subtype +MONDO:0007212 brachydactyly-long thumb syndrome 01-disease-subtype +MONDO:0007213 Ballard syndrome 01-disease-subtype +MONDO:0007214 brachydactyly-preaxial hallux varus syndrome 02-disease-root +MONDO:0007215 brachydactyly type A1 01-disease-subtype +MONDO:0007216 brachydactyly type A2 01-disease-subtype +MONDO:0007218 brachydactyly type A4 01-disease-subtype +MONDO:0007219 Osebold-Remondini syndrome 01-disease-subtype +MONDO:0007220 brachydactyly type B1 01-disease-subtype +MONDO:0007221 brachydactyly type C 01-disease-subtype +MONDO:0007225 fibular aplasia-ectrodactyly syndrome 02-disease-root +MONDO:0007226 brachydactyly-nystagmus-cerebellar ataxia syndrome 02-disease-root +MONDO:0007227 Sillence syndrome 02-disease-root +MONDO:0007230 Brachymorphism-onychodysplasia-dysphalangism syndrome 02-disease-root +MONDO:0007231 brachytelephalangy-dysmorphism-Kallmann syndrome 02-disease-root +MONDO:0007232 autosomal dominant brachyolmia 01-disease-subtype +MONDO:0007235 branchiooculofacial syndrome 02-disease-root +MONDO:0007239 epidermolytic ichthyosis 01-disease-subtype +MONDO:0007244 Caffey disease 02-disease-root +MONDO:0007245 cafe au lait spots, multiple 02-disease-root +MONDO:0007248 hereditary painful callosities 01-disease-subtype +MONDO:0007249 camptobrachydactyly 01-disease-subtype +MONDO:0007250 camptodactyly of fingers 01-disease-subtype +MONDO:0007251 campomelic dysplasia 01-disease-subtype +MONDO:0007252 Gordon syndrome 01-disease-subtype +MONDO:0007254 breast cancer 02-disease-root +MONDO:0007259 craniofaciofrontodigital syndrome 02-disease-root +MONDO:0007263 cardiac rhythm disease 03-disease-area +MONDO:0007268 hypertrophic cardiomyopathy 4 02-disease-root +MONDO:0007269 dilated cardiomyopathy 1A 01-disease-subtype +MONDO:0007271 familial cutaneous collagenoma 02-disease-root +MONDO:0007272 hereditary hypercarotenemia and vitamin A deficiency 01-disease-subtype +MONDO:0007276 cat-eye syndrome 02-disease-root +MONDO:0007277 cataract-aberrant oral frenula-growth delay syndrome 01-disease-subtype +MONDO:0007280 cataract 8 multiple types 01-disease-subtype +MONDO:0007289 cataract 13 with adult I phenotype 01-disease-subtype +MONDO:0007290 cataract 5 multiple types 01-disease-subtype +MONDO:0007293 leukocyte adhesion deficiency 1 01-disease-subtype +MONDO:0007295 childhood epilepsy with centrotemporal spikes 01-disease-subtype +MONDO:0007296 spinocerebellar ataxia type 31 01-disease-subtype +MONDO:0007297 ADan amyloidosis 01-disease-subtype +MONDO:0007298 spinocerebellar ataxia type 29 01-disease-subtype +MONDO:0007301 cerebrocostomandibular syndrome 02-disease-root +MONDO:0007307 Charcot-Marie-Tooth disease type 1B 01-disease-subtype +MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 01-disease-subtype +MONDO:0007309 Charcot-Marie-Tooth disease type 1A 01-disease-subtype +MONDO:0007311 Charcot-Marie-Tooth disease type 1E 01-disease-subtype +MONDO:0007315 cherubism 02-disease-root +MONDO:0007316 Chiari malformation type I 01-disease-subtype +MONDO:0007318 Alagille syndrome 02-disease-root +MONDO:0007319 chondrocalcinosis 2 01-disease-subtype +MONDO:0007321 autosomal dominant chondrodysplasia punctata 01-disease-subtype +MONDO:0007322 chondrodysplasia punctata, tibial-metacarpal type 01-disease-subtype +MONDO:0007329 cirrhosis, familial 01-disease-subtype +MONDO:0007330 congenital pseudoarthrosis of clavicle 02-disease-root +MONDO:0007334 autosomal dominant popliteal pterygium syndrome 01-disease-subtype +MONDO:0007336 isolated cleft palate 01-disease-subtype +MONDO:0007337 cleft palate-lateral synechia syndrome 02-disease-root +MONDO:0007339 blepharocheilodontic syndrome 02-disease-root +MONDO:0007340 cleidocranial dysplasia 02-disease-root +MONDO:0007341 cleidorhizomelic syndrome 02-disease-root +MONDO:0007342 clubfoot 01-disease-subtype +MONDO:0007343 isolated congenital digital clubbing 01-disease-subtype +MONDO:0007346 cochleosaccular degeneration-cataract syndrome 01-disease-subtype +MONDO:0007349 familial cold autoinflammatory syndrome 1 01-disease-subtype +MONDO:0007350 coloboma, ocular, autosomal dominant 02-disease-root +MONDO:0007351 coloboma of macula 02-disease-root +MONDO:0007352 renal coloboma syndrome 02-disease-root +MONDO:0007353 coloboma of macula-brachydactyly type B syndrome 02-disease-root +MONDO:0007354 coloboma of optic nerve 02-disease-root +MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability 02-disease-root +MONDO:0007363 congenital contractural arachnodactyly 01-disease-subtype +MONDO:0007368 familial benign copper deficiency 01-disease-subtype +MONDO:0007369 hereditary coproporphyria 01-disease-subtype +MONDO:0007374 Schnyder corneal dystrophy 01-disease-subtype +MONDO:0007375 epithelial basement membrane dystrophy 01-disease-subtype +MONDO:0007376 fleck corneal dystrophy 01-disease-subtype +MONDO:0007377 granular corneal dystrophy type I 01-disease-subtype +MONDO:0007379 Meesmann corneal dystrophy 02-disease-root +MONDO:0007380 lattice corneal dystrophy type I 01-disease-subtype +MONDO:0007381 epithelial recurrent erosion dystrophy 01-disease-subtype +MONDO:0007382 Ramos-Arroyo syndrome 02-disease-root +MONDO:0007383 Stern-Lubinsky-Durrie syndrome 01-disease-subtype +MONDO:0007384 congenital trigeminal anesthesia 02-disease-root +MONDO:0007392 coxoauricular syndrome 02-disease-root +MONDO:0007395 craniofacial-deafness-hand syndrome 02-disease-root +MONDO:0007396 dysostosis, Stanescu type 02-disease-root +MONDO:0007399 TWIST1-related craniosynostosis 01-disease-subtype +MONDO:0007400 Jackson-Weiss syndrome 01-disease-subtype +MONDO:0007401 craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome 01-disease-subtype +MONDO:0007403 inherited Creutzfeldt-Jakob disease 01-disease-subtype +MONDO:0007404 Cri-du-chat syndrome 01-disease-subtype +MONDO:0007405 Crouzon syndrome 02-disease-root +MONDO:0007409 cryptomicrotia-brachydactyly-excess fingertip arch syndrome 02-disease-root +MONDO:0007410 isolated cryptophthalmia 01-disease-subtype +MONDO:0007412 Beare-Stevenson cutis gyrata syndrome 02-disease-root +MONDO:0007413 Cyprus facial-neuromusculoskeletal syndrome 02-disease-root +MONDO:0007414 Gorham-Stout disease 01-disease-subtype +MONDO:0007415 mitochondrial complex III deficiency nuclear type 1 01-disease-subtype +MONDO:0007417 Darier disease 02-disease-root +MONDO:0007420 autosomal dominant deafness - onychodystrophy syndrome 01-disease-subtype +MONDO:0007421 deafness-ear malformation-facial palsy syndrome 02-disease-root +MONDO:0007422 keratoderma hereditarium mutilans 01-disease-subtype +MONDO:0007424 autosomal dominant nonsyndromic hearing loss 1 01-disease-subtype +MONDO:0007428 deafness-craniofacial syndrome 02-disease-root +MONDO:0007432 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 02-disease-root +MONDO:0007434 primary failure of tooth eruption 02-disease-root +MONDO:0007435 dentatorubral-pallidoluysian atrophy 01-disease-subtype +MONDO:0007436 dentin dysplasia type I 01-disease-subtype +MONDO:0007437 dentin dysplasia type II 01-disease-subtype +MONDO:0007438 dentin dysplasia-sclerotic bones syndrome 02-disease-root +MONDO:0007441 dentinogenesis imperfecta type 2 01-disease-subtype +MONDO:0007442 dentinogenesis imperfecta type 3 01-disease-subtype +MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris 01-disease-subtype +MONDO:0007445 dermatopathia pigmentosa reticularis 01-disease-subtype +MONDO:0007449 dermo-odonto dysplasia 02-disease-root +MONDO:0007450 neurohypophyseal diabetes insipidus 01-disease-subtype +MONDO:0007451 diabetes insipidus, nephrogenic, autosomal 01-disease-subtype +MONDO:0007461 short stature-valvular heart disease-characteristic facies syndrome 02-disease-root +MONDO:0007470 calvarial doughnut lesions-bone fragility syndrome 02-disease-root +MONDO:0007471 Doyne honeycomb retinal dystrophy 01-disease-subtype +MONDO:0007473 Duane retraction syndrome 02-disease-root +MONDO:0007476 familial Dupuytren contracture 01-disease-subtype +MONDO:0007477 3-M syndrome 02-disease-root +MONDO:0007478 autosomal dominant Kenny-Caffey syndrome 01-disease-subtype +MONDO:0007481 Leri-Weill dyschondrosteosis 02-disease-root +MONDO:0007482 dyschondrosteosis-nephritis syndrome 02-disease-root +MONDO:0007483 dyschromatosis symmetrica hereditaria 01-disease-subtype +MONDO:0007486 hereditary benign intraepithelial dyskeratosis 01-disease-subtype +MONDO:0007489 dysplasia epiphysealis hemimelica 02-disease-root +MONDO:0007490 carpotarsal osteochondromatosis 02-disease-root +MONDO:0007492 early-onset generalized limb-onset dystonia 01-disease-subtype +MONDO:0007493 torsion dystonia 4 01-disease-subtype +MONDO:0007495 dystonia 5 01-disease-subtype +MONDO:0007496 dystonia 12 01-disease-subtype +MONDO:0007500 ear malformation 02-disease-root +MONDO:0007504 thickened earlobes-conductive deafness syndrome 02-disease-root +MONDO:0007507 absence of fingerprints-congenital milia syndrome 02-disease-root +MONDO:0007509 ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant 01-disease-subtype +MONDO:0007510 Clouston syndrome 01-disease-subtype +MONDO:0007511 ectodermal dysplasia, trichoodontoonychial type 02-disease-root +MONDO:0007522 Ehlers-Danlos syndrome, classic type 01-disease-subtype +MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type 01-disease-subtype +MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type 01-disease-subtype +MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type 01-disease-subtype +MONDO:0007527 Ehlers-Danlos syndrome, periodontitis type 01-disease-subtype +MONDO:0007533 elliptocytosis 2 01-disease-subtype +MONDO:0007534 Beckwith-Wiedemann syndrome 01-disease-subtype +MONDO:0007536 congenital lobar emphysema 01-disease-subtype +MONDO:0007537 lateral meningocele syndrome 02-disease-root +MONDO:0007538 amelogenesis imperfecta, type 3A 01-disease-subtype +MONDO:0007540 multiple endocrine neoplasia type 1 01-disease-subtype +MONDO:0007542 Camurati-Engelmann disease 02-disease-root +MONDO:0007548 transient bullous dermolysis of the newborn 01-disease-subtype +MONDO:0007549 generalized dominant dystrophic epidermolysis bullosa 01-disease-subtype +MONDO:0007550 epidermolysis bullosa simplex 1A, generalized severe 01-disease-subtype +MONDO:0007551 epidermolysis bullosa simplex 1C, localized 01-disease-subtype +MONDO:0007552 pretibial dystrophic epidermolysis bullosa 01-disease-subtype +MONDO:0007554 epidermolysis bullosa simplex 1B, generalized intermediate 01-disease-subtype +MONDO:0007555 pidermolysis bullosa simplex 5A, Ogna type 01-disease-subtype +MONDO:0007556 epidermolysis bullosa simplex 2F, with mottled pigmentation 01-disease-subtype +MONDO:0007558 benign occipital epilepsy 01-disease-subtype +MONDO:0007561 multiple epiphyseal dysplasia type 1 01-disease-subtype +MONDO:0007562 multiple epiphyseal dysplasia, Beighton type 01-disease-subtype +MONDO:0007565 familial cylindromatosis 01-disease-subtype +MONDO:0007566 multiple self-healing squamous epithelioma 02-disease-root +MONDO:0007570 erythema palmare hereditarium 02-disease-root +MONDO:0007571 primary erythermalgia 01-disease-subtype +MONDO:0007572 primary familial polycythemia due to EPO receptor mutation 01-disease-subtype +MONDO:0007573 acute erythroleukemia, familial 01-disease-subtype +MONDO:0007574 spinocerebellar ataxia type 34 01-disease-subtype +MONDO:0007576 esophageal cancer 02-disease-root +MONDO:0007584 exostoses-anetodermia-brachydactyly type E syndrome 02-disease-root +MONDO:0007585 exostoses, multiple, type 1 01-disease-subtype +MONDO:0007586 exostoses, multiple, type 2 01-disease-subtype +MONDO:0007590 hemifacial hypertrophy 01-disease-subtype +MONDO:0007592 familial recurrent peripheral facial palsy 02-disease-root +MONDO:0007600 primary Fanconi syndrome 01-disease-subtype +MONDO:0007604 femoral-facial syndrome 02-disease-root +MONDO:0007606 fibrodysplasia ossificans progressiva 02-disease-root +MONDO:0007607 Birt-Hogg-Dube syndrome 02-disease-root +MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome 01-disease-subtype +MONDO:0007612 gingival fibromatosis-progressive deafness syndrome 02-disease-root +MONDO:0007614 congenital fibrosis of extraocular muscles 02-disease-root +MONDO:0007615 laurin-Sandrow syndrome 02-disease-root +MONDO:0007619 isolated congenital adermatoglyphia 02-disease-root +MONDO:0007620 fish eye disease 02-disease-root +MONDO:0007621 floating-Harbor syndrome 02-disease-root +MONDO:0007624 Flynn-Aird syndrome 02-disease-root +MONDO:0007626 familial congenital palsy of trochlear nerve 01-disease-subtype +MONDO:0007627 focal facial dermal dysplasia type I 01-disease-subtype +MONDO:0007630 North Carolina macular dystrophy 02-disease-root +MONDO:0007631 chromosome 16p12.1 deletion syndrome, 520kb 01-disease-subtype +MONDO:0007635 Frasier syndrome 01-disease-subtype +MONDO:0007636 frontorhiny 01-disease-subtype +MONDO:0007639 fundus albipunctatus 01-disease-subtype +MONDO:0007640 Sorsby fundus dystrophy 02-disease-root +MONDO:0007646 Gamstorp-Wohlfart syndrome 01-disease-subtype +MONDO:0007648 hereditary diffuse gastric adenocarcinoma 01-disease-subtype +MONDO:0007651 gastrocutaneous syndrome 02-disease-root +MONDO:0007653 genochondromatosis 02-disease-root +MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome 02-disease-root +MONDO:0007664 glaucoma 1, open angle, A 01-disease-subtype +MONDO:0007666 glaucoma-sleep apnea syndrome 02-disease-root +MONDO:0007669 renal cysts and diabetes syndrome 01-disease-subtype +MONDO:0007670 hypotrichosis-lymphedema-telangiectasia syndrome (grouping) 01-disease-subtype +MONDO:0007671 fibronectin glomerulopathy 02-disease-root +MONDO:0007672 glomuvenous malformation 02-disease-root +MONDO:0007679 GMS syndrome 02-disease-root +MONDO:0007680 multinodular goiter-cystic kidney-polydactyly syndrome 02-disease-root +MONDO:0007681 goiter, multinodular 1, with or without Sertoli-Leydig cell tumors 01-disease-subtype +MONDO:0007683 Grant syndrome 02-disease-root +MONDO:0007686 gray platelet syndrome 01-disease-subtype +MONDO:0007688 Myhre syndrome 01-disease-subtype +MONDO:0007690 aromatase excess syndrome 02-disease-root +MONDO:0007693 hypertrichosis cubiti-short stature syndrome 01-disease-subtype +MONDO:0007696 Emery-Nelson syndrome 02-disease-root +MONDO:0007698 hand-foot-genital syndrome 01-disease-subtype +MONDO:0007700 hawkinsinuria 01-disease-subtype +MONDO:0007702 heart-hand syndrome type 3 01-disease-subtype +MONDO:0007705 Heinz body anemia 01-disease-subtype +MONDO:0007706 cavernous hemangiomas of face-supraumbilical midline raphe syndrome 02-disease-root +MONDO:0007711 Bencze syndrome 02-disease-root +MONDO:0007712 oculoauriculovertebral spectrum with radial defects 02-disease-root +MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 01-disease-subtype +MONDO:0007724 hirsutism-skeletal dysplasia-intellectual disability syndrome 02-disease-root +MONDO:0007726 hip dysplasia, Beukes type 01-disease-subtype +MONDO:0007727 autosomal dominant familial periodic fever 02-disease-root +MONDO:0007728 acne inversa, familial, 1 01-disease-subtype +MONDO:0007732 Holt-Oram syndrome 01-disease-subtype +MONDO:0007733 holoprosencephaly 3 01-disease-subtype +MONDO:0007735 congenital Horner syndrome 02-disease-root +MONDO:0007737 humeroradial synostosis 02-disease-root +MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations 01-disease-subtype +MONDO:0007739 Huntington disease 02-disease-root +MONDO:0007740 Wagner disease 02-disease-root +MONDO:0007741 congenital hydronephrosis 01-disease-subtype +MONDO:0007743 attention deficit-hyperactivity disorder 02-disease-root +MONDO:0007744 cholesterol-ester transfer protein deficiency 01-disease-subtype +MONDO:0007747 isolated hyperchlorhidrosis 02-disease-root +MONDO:0007750 hypercholesterolemia, familial, 1 01-disease-subtype +MONDO:0007751 hypercholesterolemia, autosomal dominant, type B 01-disease-subtype +MONDO:0007756 hyperkeratosis lenticularis perstans 02-disease-root +MONDO:0007757 hyperkeratosis-hyperpigmentation syndrome 02-disease-root +MONDO:0007758 epidermolytic palmoplantar keratoderma 01-disease-subtype +MONDO:0007761 hyperlipoproteinemia type IV 02-disease-root +MONDO:0007762 hyperlipoproteinemia type V 02-disease-root +MONDO:0007763 nonpapillary renal cell carcinoma 01-disease-subtype +MONDO:0007764 autosomal dominant osteosclerosis, Worth type 02-disease-root +MONDO:0007765 hyperostosis cranialis interna 02-disease-root +MONDO:0007766 Morgagni-Stewart-Morel syndrome 02-disease-root +MONDO:0007768 hyperparathyroidism 2 with jaw tumors 01-disease-subtype +MONDO:0007771 hyperpigmentation with or without hypopigmentation, familial progressive 01-disease-subtype +MONDO:0007772 pseudohypoaldosteronism type 2A 01-disease-subtype +MONDO:0007776 hypersensitivity pneumonitis, familial 01-disease-subtype +MONDO:0007779 autosomal dominant Opitz G/BBB syndrome 01-disease-subtype +MONDO:0007781 essential hypertension, genetic 01-disease-subtype +MONDO:0007784 selective pituitary resistance to thyroid hormone 01-disease-subtype +MONDO:0007787 Ambras type hypertrichosis universalis congenita 01-disease-subtype +MONDO:0007788 hypertriglyceridemia, familial 01-disease-subtype +MONDO:0007790 Charcot-Marie-Tooth disease type 3 01-disease-subtype +MONDO:0007791 familial hypocalciuric hypercalcemia 1 01-disease-subtype +MONDO:0007792 familial hypocalciuric hypercalcemia 2 01-disease-subtype +MONDO:0007793 hypochondroplasia 02-disease-root +MONDO:0007795 mullerian duct anomalies-limb anomalies syndrome 01-disease-subtype +MONDO:0007796 hypoparathyroidism, familial isolated 1 01-disease-subtype +MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome 01-disease-subtype +MONDO:0007800 chromosome 18p deletion syndrome 01-disease-subtype +MONDO:0007804 Pallister-Hall syndrome 01-disease-subtype +MONDO:0007806 hypotrichosis 4 01-disease-subtype +MONDO:0007808 ichthyosis hystrix of Curth-Macklin 01-disease-subtype +MONDO:0007809 ichthyosis hystrix gravior 01-disease-subtype +MONDO:0007811 ichthyosis-cheek-eyebrow syndrome 02-disease-root +MONDO:0007812 ichthyosis, lamellar, autosomal dominant 01-disease-subtype +MONDO:0007813 superficial epidermolytic ichthyosis 01-disease-subtype +MONDO:0007817 IgE responsiveness, atopic 01-disease-subtype +MONDO:0007818 hyper-IgE recurrent infection syndrome 1 01-disease-subtype +MONDO:0007819 solitary median maxillary central incisor syndrome 01-disease-subtype +MONDO:0007820 fused mandibular incisors 02-disease-root +MONDO:0007834 islet cell adenomatosis 03-disease-area +MONDO:0007836 IVIC syndrome 02-disease-root +MONDO:0007837 Johnson neuroectodermal syndrome 02-disease-root +MONDO:0007838 Jacobsen syndrome 01-disease-subtype +MONDO:0007839 Aase-Smith syndrome 02-disease-root +MONDO:0007841 coxopodopatellar syndrome 01-disease-subtype +MONDO:0007842 Ehlers-Danlos syndrome type 11 01-disease-subtype +MONDO:0007844 hypogonadotropic hypogonadism 2 with or without anosmia 01-disease-subtype +MONDO:0007846 KBG syndrome 02-disease-root +MONDO:0007848 autosomal dominant keratitis 02-disease-root +MONDO:0007849 keratitis fugax hereditaria 02-disease-root +MONDO:0007852 palmoplantar keratoderma-deafness syndrome 01-disease-subtype +MONDO:0007853 palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome 01-disease-subtype +MONDO:0007854 keratolytic winter erythema 02-disease-root +MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome 01-disease-subtype +MONDO:0007857 keratosis palmaris et plantaris-clinodactyly syndrome 01-disease-subtype +MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse 02-disease-root +MONDO:0007860 focal palmoplantar and gingival keratoderma 01-disease-subtype +MONDO:0007861 isolated cloverleaf skull syndrome 01-disease-subtype +MONDO:0007862 Waardenburg syndrome type 3 01-disease-subtype +MONDO:0007864 angioosteohypertrophic syndrome 01-disease-subtype +MONDO:0007866 Bart-Pumphrey syndrome 01-disease-subtype +MONDO:0007872 LADD syndrome 01-disease-subtype +MONDO:0007874 trichorhinophalangeal syndrome type II 01-disease-subtype +MONDO:0007875 Larsen syndrome 02-disease-root +MONDO:0007878 congenital laryngomalacia 02-disease-root +MONDO:0007879 larynx atresia 02-disease-root +MONDO:0007880 congenital laryngeal web 02-disease-root +MONDO:0007883 periodic fever, immunodeficiency, and thrombocytopenia syndrome 02-disease-root +MONDO:0007885 Legg-Calve-Perthes disease 02-disease-root +MONDO:0007888 hereditary leiomyomatosis and renal cell cancer 01-disease-subtype +MONDO:0007891 familial generalized lentiginosis 02-disease-root +MONDO:0007892 Lenz-Majewski hyperostotic dwarfism 02-disease-root +MONDO:0007893 Noonan syndrome with multiple lentigines 02-disease-root +MONDO:0007894 Leri pleonosteosis 02-disease-root +MONDO:0007895 platyspondylic dysplasia, Torrance type 01-disease-subtype +MONDO:0007899 lichen sclerosus et atrophicus 02-disease-root +MONDO:0007902 lichen planus, familial 01-disease-subtype +MONDO:0007903 Li-Fraumeni syndrome 1 01-disease-subtype +MONDO:0007904 median nodule of the upper lip 02-disease-root +MONDO:0007906 familial partial lipodystrophy, Dunnigan type 01-disease-subtype +MONDO:0007909 familial multiple lipomatosis 01-disease-subtype +MONDO:0007916 primary intestinal lymphangiectasia 01-disease-subtype +MONDO:0007917 lymphedema-cerebral arteriovenous anomaly syndrome 01-disease-subtype +MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 01-disease-subtype +MONDO:0007920 lymphatic malformation 5 01-disease-subtype +MONDO:0007922 lymphedema-distichiasis syndrome 01-disease-subtype +MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome 01-disease-subtype +MONDO:0007927 congenital macroglossia 01-disease-subtype +MONDO:0007931 vitelliform macular dystrophy 2 01-disease-subtype +MONDO:0007934 benign concentric annular macular dystrophy 02-disease-root +MONDO:0007935 cystoid macular edema 01-disease-subtype +MONDO:0007937 renal hypomagnesemia 2 01-disease-subtype +MONDO:0007943 Nager acrofacial dysostosis 01-disease-subtype +MONDO:0007946 jaw-winking syndrome 02-disease-root +MONDO:0007947 Marfan syndrome 02-disease-root +MONDO:0007949 Marshall syndrome 01-disease-subtype +MONDO:0007953 Binder syndrome 02-disease-root +MONDO:0007956 Pai syndrome 01-disease-subtype +MONDO:0007958 familial medullary thyroid carcinoma 01-disease-subtype +MONDO:0007962 Megalodactyly 02-disease-root +MONDO:0007964 melanoma, cutaneous malignant, susceptibility to, 2 01-disease-subtype +MONDO:0007970 melorheostosis 01-disease-subtype +MONDO:0007971 delayed membranous cranial ossification 02-disease-root +MONDO:0007977 mesomelic dysplasia, Kantaputra type 02-disease-root +MONDO:0007979 metachondromatosis 02-disease-root +MONDO:0007982 metaphyseal chondrodysplasia, Jansen type 01-disease-subtype +MONDO:0007983 Schmid metaphyseal chondrodysplasia 01-disease-subtype +MONDO:0007984 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome 01-disease-subtype +MONDO:0007986 metatropic dysplasia 01-disease-subtype +MONDO:0007987 Kniest dysplasia 01-disease-subtype +MONDO:0007988 autosomal dominant primary microcephaly 01-disease-subtype +MONDO:0007989 congenital microcoria 02-disease-root +MONDO:0007990 multiple benign circumferential skin creases on limbs 02-disease-root +MONDO:0007991 microcephaly-deafness-intellectual disability syndrome 02-disease-root +MONDO:0007992 microcornea-glaucoma-absent frontal sinuses syndrome 02-disease-root +MONDO:0007998 microspherophakia-metaphyseal dysplasia syndrome 02-disease-root +MONDO:0008002 mirror movements 1 01-disease-subtype +MONDO:0008003 autosomal dominant progressive external ophthalmoplegia 01-disease-subtype +MONDO:0008005 cardiospondylocarpofacial syndrome 02-disease-root +MONDO:0008006 Mobius syndrome 01-disease-subtype +MONDO:0008007 tooth ankylosis 01-disease-subtype +MONDO:0008008 MOMO syndrome 02-disease-root +MONDO:0008009 monilethrix 01-disease-subtype +MONDO:0008013 chromosome 9p deletion syndrome 01-disease-subtype +MONDO:0008016 trismus-pseudocamptodactyly syndrome 01-disease-subtype +MONDO:0008017 hereditary mucoepithelial dysplasia 02-disease-root +MONDO:0008018 Muir-Torre syndrome 01-disease-subtype +MONDO:0008019 mullerian aplasia and hyperandrogenism 01-disease-subtype +MONDO:0008023 muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome 02-disease-root +MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures 01-disease-subtype +MONDO:0008029 Bethlem myopathy 02-disease-root +MONDO:0008038 ataxia-pancytopenia syndrome 02-disease-root +MONDO:0008043 myoclonus-cerebellar ataxia-deafness syndrome 02-disease-root +MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome 01-disease-subtype +MONDO:0008046 autosomal dominant myoglobinuria 01-disease-subtype +MONDO:0008047 episodic ataxia type 1 01-disease-subtype +MONDO:0008048 autosomal dominant centronuclear myopathy 01-disease-subtype +MONDO:0008050 MYH7-related skeletal myopathy 01-disease-subtype +MONDO:0008051 tubular aggregate myopathy 02-disease-root +MONDO:0008056 myotonic dystrophy type 1 01-disease-subtype +MONDO:0008057 Carney complex, type 1 01-disease-subtype +MONDO:0008058 cylindrical spirals myopathy 01-disease-subtype +MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome 01-disease-subtype +MONDO:0008060 nonsyndromic congenital nail disorder 1 01-disease-subtype +MONDO:0008061 nail-patella syndrome 01-disease-subtype +MONDO:0008071 autosomal dominant progressive nephropathy with hypertension 01-disease-subtype +MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 01-disease-subtype +MONDO:0008075 neurofibromatosis type 3 02-disease-root +MONDO:0008082 multiple endocrine neoplasia type 2B 01-disease-subtype +MONDO:0008083 ceroid lipofuscinosis, neuronal, 4 (Kufs type) 01-disease-subtype +MONDO:0008087 hereditary neuropathy with liability to pressure palsies 01-disease-subtype +MONDO:0008090 cyclic hematopoiesis 01-disease-subtype +MONDO:0008092 hereditary neutrophilia 02-disease-root +MONDO:0008093 nevus, epidermal 02-disease-root +MONDO:0008094 familial multiple nevi flammei 01-disease-subtype +MONDO:0008097 linear nevus sebaceous syndrome 01-disease-subtype +MONDO:0008098 mesomelic dwarfism, Nievergelt type 02-disease-root +MONDO:0008108 oculocerebrocutaneous syndrome 02-disease-root +MONDO:0008111 oculodentodigital dysplasia 02-disease-root +MONDO:0008113 Schilbach-Rott syndrome 02-disease-root +MONDO:0008115 Feingold syndrome type 1 01-disease-subtype +MONDO:0008116 oculopharyngeal muscular dystrophy 02-disease-root +MONDO:0008118 odontomatosis-aortae esophagus stenosis syndrome 02-disease-root +MONDO:0008119 spinocerebellar ataxia type 1 01-disease-subtype +MONDO:0008120 spinocerebellar ataxia type 7 01-disease-subtype +MONDO:0008123 autosomal dominant omodysplasia 01-disease-subtype +MONDO:0008127 ophthalmomandibulomelic dysplasia 02-disease-root +MONDO:0008130 ophthalmoplegia-intellectual disability-lingua scrotalis syndrome 02-disease-root +MONDO:0008133 optic atrophy 3 01-disease-subtype +MONDO:0008134 autosomal dominant optic atrophy, classic form 01-disease-subtype +MONDO:0008135 optic atrophy 13 with retinal and foveal abnormalities 01-disease-subtype +MONDO:0008136 isolated optic nerve hypoplasia 02-disease-root +MONDO:0008137 orofaciodigital syndrome X 01-disease-subtype +MONDO:0008138 syndromic orbital border hypoplasia 01-disease-subtype +MONDO:0008139 OSLAM syndrome 02-disease-root +MONDO:0008142 Thiemann disease, familial form 01-disease-subtype +MONDO:0008145 Ollier disease 01-disease-subtype +MONDO:0008146 osteogenesis imperfecta type 1 01-disease-subtype +MONDO:0008147 osteogenesis imperfecta type 2 01-disease-subtype +MONDO:0008148 osteogenesis imperfecta type 4 01-disease-subtype +MONDO:0008150 osteoglophonic dwarfism 02-disease-root +MONDO:0008151 gnathodiaphyseal dysplasia 02-disease-root +MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy 02-disease-root +MONDO:0008153 progressive osseous heteroplasia 02-disease-root +MONDO:0008155 osteomesopyknosis 01-disease-subtype +MONDO:0008156 autosomal dominant osteopetrosis 2 01-disease-subtype +MONDO:0008157 Buschke-Ollendorff syndrome 01-disease-subtype +MONDO:0008158 dacryocystitis-osteopoikilosis syndrome 02-disease-root +MONDO:0008161 otodental syndrome 01-disease-subtype +MONDO:0008163 otofaciocervical syndrome 02-disease-root +MONDO:0008165 southeast Asian ovalocytosis 01-disease-subtype +MONDO:0008170 ovarian cancer 02-disease-root +MONDO:0008175 pacman dysplasia 02-disease-root +MONDO:0008179 paroxysmal extreme pain disorder 02-disease-root +MONDO:0008182 nasopalpebral lipoma-coloboma syndrome 02-disease-root +MONDO:0008183 annular pancreas 01-disease-subtype +MONDO:0008185 hereditary chronic pancreatitis 01-disease-subtype +MONDO:0008195 paramyotonia congenita of Von Eulenburg 02-disease-root +MONDO:0008196 parastremmatic dwarfism 01-disease-subtype +MONDO:0008198 parietal foramina with cleidocranial dysplasia 02-disease-root +MONDO:0008199 late-onset Parkinson disease 01-disease-subtype +MONDO:0008201 Perry syndrome 02-disease-root +MONDO:0008205 patella aplasia/hypoplasia 01-disease-subtype +MONDO:0008206 benign paroxysmal tonic upgaze of childhood with ataxia 02-disease-root +MONDO:0008207 chondromalacia patellae 01-disease-subtype +MONDO:0008209 Char syndrome 01-disease-subtype +MONDO:0008210 patterned macular dystrophy 1 01-disease-subtype +MONDO:0008211 pseudoleprechaunism syndrome, Patterson type 02-disease-root +MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy 01-disease-subtype +MONDO:0008217 pelvis-shoulder dysplasia 02-disease-root +MONDO:0008218 Hailey-Hailey disease 01-disease-subtype +MONDO:0008221 prolidase deficiency 01-disease-subtype +MONDO:0008222 Andersen-Tawil syndrome 01-disease-subtype +MONDO:0008223 hypokalemic periodic paralysis 01-disease-subtype +MONDO:0008224 hyperkalemic periodic paralysis 01-disease-subtype +MONDO:0008227 peripheral dysostosis 01-disease-subtype +MONDO:0008234 multiple endocrine neoplasia type 2A 01-disease-subtype +MONDO:0008237 phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome 02-disease-root +MONDO:0008244 piebaldism 02-disease-root +MONDO:0008245 piebald trait-neurologic defects syndrome 02-disease-root +MONDO:0008246 pigmented paravenous retinochoroidal atrophy 02-disease-root +MONDO:0008247 robin sequence-oligodactyly syndrome 02-disease-root +MONDO:0008248 pigmented purpuric eruption 02-disease-root +MONDO:0008250 isolated growth hormone deficiency type II 01-disease-subtype +MONDO:0008251 familial pityriasis rubra pilaris 01-disease-subtype +MONDO:0008259 familial spontaneous pneumothorax 01-disease-subtype +MONDO:0008260 Kindler syndrome 02-disease-root +MONDO:0008261 hereditary sclerosing poikiloderma, Weary type 02-disease-root +MONDO:0008262 Poland syndrome 01-disease-subtype +MONDO:0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia 02-disease-root +MONDO:0008265 polycystic liver disease 1 01-disease-subtype +MONDO:0008267 orofaciodigital syndrome V 01-disease-subtype +MONDO:0008268 polydactyly-myopia syndrome 02-disease-root +MONDO:0008269 polydactyly of a biphalangeal thumb 01-disease-subtype +MONDO:0008270 polydactyly of a triphalangeal thumb 01-disease-subtype +MONDO:0008271 polydactyly of an index finger 01-disease-subtype +MONDO:0008272 polysyndactyly 4 01-disease-subtype +MONDO:0008274 polyostotic fibrous dysplasia 01-disease-subtype +MONDO:0008275 familial expansile osteolysis 02-disease-root +MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli 01-disease-subtype +MONDO:0008277 stomach polyp 02-disease-root +MONDO:0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 01-disease-subtype +MONDO:0008280 Peutz-Jeghers syndrome 01-disease-subtype +MONDO:0008283 Cronkhite-Canada syndrome 01-disease-subtype +MONDO:0008286 crossed polysyndactyly 02-disease-root +MONDO:0008287 Greig cephalopolysyndactyly syndrome 02-disease-root +MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies 01-disease-subtype +MONDO:0008291 porokeratosis plantaris palmaris et disseminata 01-disease-subtype +MONDO:0008292 punctate palmoplantar keratoderma type 2 01-disease-subtype +MONDO:0008294 acute intermittent porphyria 01-disease-subtype +MONDO:0008295 sporadic porphyria cutanea tarda 01-disease-subtype +MONDO:0008297 variegate porphyria 01-disease-subtype +MONDO:0008298 postaxial tetramelic oligodactyly 02-disease-root +MONDO:0008300 Prader-Willi syndrome 02-disease-root +MONDO:0008301 Guttmacher syndrome 02-disease-root +MONDO:0008305 Currarino triad 01-disease-subtype +MONDO:0008306 ABri amyloidosis 01-disease-subtype +MONDO:0008310 Hutchinson-Gilford progeria syndrome 01-disease-subtype +MONDO:0008311 progeria-short stature-pigmented nevi syndrome 02-disease-root +MONDO:0008312 autosomal dominant prognathism 02-disease-root +MONDO:0008315 prostate cancer 02-disease-root +MONDO:0008318 Proteus syndrome 01-disease-subtype +MONDO:0008322 pseudoachondroplasia 01-disease-subtype +MONDO:0008323 Liddle syndrome 02-disease-root +MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 01-disease-subtype +MONDO:0008332 pseudo-von Willebrand disease 01-disease-subtype +MONDO:0008335 short stature-craniofacial anomalies-genital hypoplasia syndrome 02-disease-root +MONDO:0008337 familial pterygium of the conjunctiva 01-disease-subtype +MONDO:0008338 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A 01-disease-subtype +MONDO:0008339 antecubital pterygium syndrome 02-disease-root +MONDO:0008340 ptosis, hereditary congenital, 1 01-disease-subtype +MONDO:0008341 ptosis-strabismus-ectopic pupils syndrome 02-disease-root +MONDO:0008343 pulmonary atresia with ventricular septal defect 01-disease-subtype +MONDO:0008347 idiopathic and/or familial pulmonary arterial hypertension 01-disease-subtype +MONDO:0008357 radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome 02-disease-root +MONDO:0008359 radio-renal syndrome 02-disease-root +MONDO:0008365 recombinant 8 syndrome 02-disease-root +MONDO:0008368 autosomal dominant distal renal tubular acidosis 01-disease-subtype +MONDO:0008369 proximal renal tubular acidosis 01-disease-subtype +MONDO:0008371 Dowling-Degos disease 01-disease-subtype +MONDO:0008373 retinal arterial tortuosity 02-disease-root +MONDO:0008380 retinoblastoma 01-disease-subtype +MONDO:0008387 ring dermoid of cornea 02-disease-root +MONDO:0008388 ringed hair disease 01-disease-subtype +MONDO:0008389 autosomal dominant Robinow syndrome 01-disease-subtype +MONDO:0008390 Rombo syndrome 02-disease-root +MONDO:0008392 Roussy-Levy syndrome 02-disease-root +MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations 01-disease-subtype +MONDO:0008394 Silver-Russell syndrome 02-disease-root +MONDO:0008395 Ruvalcaba syndrome 02-disease-root +MONDO:0008396 oculodental syndrome, Rutherfurd type 01-disease-subtype +MONDO:0008397 aplasia of lacrimal and salivary glands 01-disease-subtype +MONDO:0008402 cleft palate-large ears-small head syndrome 02-disease-root +MONDO:0008403 scalp defects-postaxial polydactyly syndrome 02-disease-root +MONDO:0008404 scalp-ear-nipple syndrome 02-disease-root +MONDO:0008406 autosomal recessive Emery-Dreifuss muscular dystrophy 01-disease-subtype +MONDO:0008407 neurogenic scapuloperoneal syndrome, Kaeser type 01-disease-subtype +MONDO:0008409 MYH7-related late-onset scapuloperoneal muscular dystrophy 01-disease-subtype +MONDO:0008410 Scheuermann disease 01-disease-subtype +MONDO:0008411 ulnar-mammary syndrome 02-disease-root +MONDO:0008416 palmoplantar keratoderma-sclerodactyly syndrome 01-disease-subtype +MONDO:0008425 omphalocele syndrome, Shprintzen-Goldberg type 02-disease-root +MONDO:0008426 Shprintzen-Goldberg syndrome 02-disease-root +MONDO:0008428 septooptic dysplasia 01-disease-subtype +MONDO:0008429 Singleton-Merten dysplasia 02-disease-root +MONDO:0008434 Smith-Magenis syndrome 01-disease-subtype +MONDO:0008437 hereditary spastic paraplegia 3A 01-disease-subtype +MONDO:0008438 hereditary spastic paraplegia 4 01-disease-subtype +MONDO:0008439 spastic paraplegia-epilepsy-intellectual disability syndrome 02-disease-root +MONDO:0008440 spastic paraplegia-nephritis-deafness syndrome 02-disease-root +MONDO:0008442 spastic paraplegia-neuropathy-poikiloderma syndrome 02-disease-root +MONDO:0008443 spastic paraplegia-precocious puberty syndrome 02-disease-root +MONDO:0008445 delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome 02-disease-root +MONDO:0008448 spheroid body myopathy 01-disease-subtype +MONDO:0008451 neuronopathy, distal hereditary motor, type 1 01-disease-subtype +MONDO:0008452 spinal muscular atrophy, facioscapulohumeral type 02-disease-root +MONDO:0008453 adult-onset proximal spinal muscular atrophy, autosomal dominant 01-disease-subtype +MONDO:0008457 spinocerebellar ataxia type 6 01-disease-subtype +MONDO:0008458 spinocerebellar ataxia type 2 01-disease-subtype +MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome 01-disease-subtype +MONDO:0008465 Patterson-Stevenson-Fontaine syndrome 01-disease-subtype +MONDO:0008466 Karsch-Neugebauer syndrome 02-disease-root +MONDO:0008467 Czeizel-Losonci syndrome 02-disease-root +MONDO:0008469 spondyloepimetaphyseal dysplasia-hypotrichosis syndrome 01-disease-subtype +MONDO:0008471 spondyloepiphyseal dysplasia congenita 01-disease-subtype +MONDO:0008472 spondyloepiphyseal dysplasia, MacDermot type 01-disease-subtype +MONDO:0008473 spondyloepimetaphyseal dysplasia, Maroteaux type 01-disease-subtype +MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type 01-disease-subtype +MONDO:0008477 spondylometaphyseal dysplasia, Kozlowski type 02-disease-root +MONDO:0008478 spondylometaphyseal dysplasia, Schmidt type 01-disease-subtype +MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type 02-disease-root +MONDO:0008484 stapes ankylosis with broad thumbs and toes 02-disease-root +MONDO:0008485 sebocystomatosis 01-disease-subtype +MONDO:0008486 steatocystoma multiplex-natal teeth syndrome 01-disease-subtype +MONDO:0008488 holoprosencephaly-radial heart renal anomalies syndrome 02-disease-root +MONDO:0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant 01-disease-subtype +MONDO:0008492 stiff skin syndrome 02-disease-root +MONDO:0008493 overhydrated hereditary stomatocytosis 01-disease-subtype +MONDO:0008494 cryohydrocytosis 01-disease-subtype +MONDO:0008497 Stormorken syndrome 02-disease-root +MONDO:0008499 short stature-wormian bones-dextrocardia syndrome 02-disease-root +MONDO:0008501 Sturge-Weber syndrome 02-disease-root +MONDO:0008504 supravalvular aortic stenosis 01-disease-subtype +MONDO:0008509 distal symphalangism 01-disease-subtype +MONDO:0008510 symphalangism with multiple anomalies of hands and feet 01-disease-subtype +MONDO:0008511 proximal symphalangism 02-disease-root +MONDO:0008512 syndactyly type 1 01-disease-subtype +MONDO:0008513 synpolydactyly type 1 01-disease-subtype +MONDO:0008514 syndactyly type 3 01-disease-subtype +MONDO:0008515 syndactyly type 4 01-disease-subtype +MONDO:0008516 syndactyly type 5 01-disease-subtype +MONDO:0008517 syndactyly-polydactyly-ear lobe syndrome 02-disease-root +MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome 02-disease-root +MONDO:0008521 tarsal-carpal coalition syndrome 02-disease-root +MONDO:0008523 Blau syndrome 01-disease-subtype +MONDO:0008535 telangiectasia, hereditary hemorrhagic, type 1 01-disease-subtype +MONDO:0008537 telecanthus 02-disease-root +MONDO:0008540 extensor tendons of finger anomalies 02-disease-root +MONDO:0008544 tetramelic monodactyly 02-disease-root +MONDO:0008546 thanatophoric dysplasia type 1 01-disease-subtype +MONDO:0008547 thanatophoric dysplasia type 2 01-disease-subtype +MONDO:0008551 thoracolaryngopelvic dysplasia 01-disease-subtype +MONDO:0008553 platelet-type bleeding disorder 17 01-disease-subtype +MONDO:0008557 Paris-Trousseau thrombocytopenia 01-disease-subtype +MONDO:0008559 thrombophilia due to thrombin defect 01-disease-subtype +MONDO:0008560 thrombophilia due to activated protein C resistance 01-disease-subtype +MONDO:0008562 thumb deformity-alopecia-pigmentation anomaly syndrome 02-disease-root +MONDO:0008563 thumb stiffness-brachydactyly-intellectual disability syndrome 02-disease-root +MONDO:0008565 familial thyroglossal duct cyst 01-disease-subtype +MONDO:0008570 thyrotoxic periodic paralysis, susceptibility to, 1 01-disease-subtype +MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly 02-disease-root +MONDO:0008582 tooth and nail syndrome 02-disease-root +MONDO:0008588 hereditary geniospasm 02-disease-root +MONDO:0008592 tricho-dento-osseous syndrome 01-disease-subtype +MONDO:0008593 trichomegaly 02-disease-root +MONDO:0008596 trichorhinophalangeal syndrome type I 01-disease-subtype +MONDO:0008597 trichorhinophalangeal syndrome, type III 01-disease-subtype +MONDO:0008598 trichodysplasia-xeroderma syndrome 01-disease-subtype +MONDO:0008606 Say-field-Coldwell syndrome 02-disease-root +MONDO:0008607 triphalangeal thumbs-brachyectrodactyly syndrome 02-disease-root +MONDO:0008610 blue color blindness 02-disease-root +MONDO:0008611 humerus trochlea aplasia 02-disease-root +MONDO:0008618 mesomelic dwarfism, Reinhardt-Pfeiffer type 02-disease-root +MONDO:0008619 ulna metaphyseal dysplasia syndrome 01-disease-subtype +MONDO:0008620 upper limb mesomelic dysplasia 02-disease-root +MONDO:0008621 uncombable hair syndrome 01-disease-subtype +MONDO:0008622 tricho-retino-dento-digital syndrome 02-disease-root +MONDO:0008624 Upington disease 02-disease-root +MONDO:0008627 ureter cancer 02-disease-root +MONDO:0008630 urinary bladder, atony of 02-disease-root +MONDO:0008633 Muckle-Wells syndrome 01-disease-subtype +MONDO:0008636 double uterus-hemivagina-renal agenesis syndrome 01-disease-subtype +MONDO:0008638 varicose disease 03-disease-area +MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 01-disease-subtype +MONDO:0008642 VACTERL/vater association 01-disease-subtype +MONDO:0008645 ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome 02-disease-root +MONDO:0008648 ventricular tachycardia, familial 01-disease-subtype +MONDO:0008650 posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome 02-disease-root +MONDO:0008652 congenital vertical talus 02-disease-root +MONDO:0008659 transcobalamin I deficiency 01-disease-subtype +MONDO:0008660 autosomal dominant hypophosphatemic rickets 01-disease-subtype +MONDO:0008662 autosomal dominant vitreoretinochoroidopathy 02-disease-root +MONDO:0008663 snowflake vitreoretinal degeneration 02-disease-root +MONDO:0008665 ptosis-vocal cord paralysis syndrome 02-disease-root +MONDO:0008666 volvulus of midgut 02-disease-root +MONDO:0008667 von Hippel-Lindau disease 02-disease-root +MONDO:0008668 von Willebrand disease 1 01-disease-subtype +MONDO:0008670 Waardenburg syndrome type 1 01-disease-subtype +MONDO:0008672 Watson syndrome 01-disease-subtype +MONDO:0008673 acrofacial dysostosis, Weyers type 01-disease-subtype +MONDO:0008676 white sponge nevus 1 01-disease-subtype +MONDO:0008678 Williams syndrome 01-disease-subtype +MONDO:0008679 Wilms tumor 1 01-disease-subtype +MONDO:0008681 WAGR syndrome 01-disease-subtype +MONDO:0008682 Denys-Drash syndrome 01-disease-subtype +MONDO:0008684 Wolf-Hirschhorn syndrome 01-disease-subtype +MONDO:0008686 isolated familial woolly hair disorder 01-disease-subtype +MONDO:0008688 WT limb-blood syndrome 01-disease-subtype +MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 01-disease-subtype +MONDO:0008691 zinc, elevated plasma 02-disease-root +MONDO:0008692 abetalipoproteinemia 01-disease-subtype +MONDO:0008693 ablepharon macrostomia syndrome 02-disease-root +MONDO:0008694 pseudoprogeria syndrome 02-disease-root +MONDO:0008695 chorea-acanthocytosis 02-disease-root +MONDO:0008696 acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome 01-disease-subtype +MONDO:0008699 achalasia microcephaly syndrome 01-disease-subtype +MONDO:0008700 acheiropody 02-disease-root +MONDO:0008701 achondrogenesis type IA 01-disease-subtype +MONDO:0008702 achondrogenesis type II 01-disease-subtype +MONDO:0008703 acromesomelic dysplasia 2A 01-disease-subtype +MONDO:0008704 short-limb skeletal dysplasia with severe combined immunodeficiency 01-disease-subtype +MONDO:0008705 lysosomal acid phosphatase deficiency 02-disease-root +MONDO:0008706 Ackerman syndrome 02-disease-root +MONDO:0008707 acro-renal-mandibular syndrome 02-disease-root +MONDO:0008708 acrocallosal syndrome 02-disease-root +MONDO:0008709 acrocephalopolydactyly 02-disease-root +MONDO:0008710 RAB23-related Carpenter syndrome 01-disease-subtype +MONDO:0008711 Goodman syndrome 01-disease-subtype +MONDO:0008712 acrocraniofacial dysostosis 01-disease-subtype +MONDO:0008713 acrodermatitis enteropathica 01-disease-subtype +MONDO:0008714 acrofacial dysostosis Rodriguez type 01-disease-subtype +MONDO:0008715 acrofrontofacionasal dysostosis 01-disease-subtype +MONDO:0008716 acrogeria 02-disease-root +MONDO:0008717 acromesomelic dysplasia 2C, Hunter-Thompson type 01-disease-subtype +MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency 01-disease-subtype +MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency 01-disease-subtype +MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency 01-disease-subtype +MONDO:0008724 adducted thumbs-arthrogryposis syndrome, Christian type 01-disease-subtype +MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency 01-disease-subtype +MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency 01-disease-subtype +MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 01-disease-subtype +MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency 01-disease-subtype +MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency 01-disease-subtype +MONDO:0008731 familial adrenal hypoplasia with absent pituitary luteinizing hormone 01-disease-subtype +MONDO:0008733 familial glucocorticoid deficiency 02-disease-root +MONDO:0008734 adrenocortical carcinoma, hereditary 01-disease-subtype +MONDO:0008737 congenital afibrinogenemia 01-disease-subtype +MONDO:0008740 agnathia-otocephaly complex 02-disease-root +MONDO:0008741 PAGOD syndrome 01-disease-subtype +MONDO:0008742 autosomal dominant severe congenital neutropenia 01-disease-subtype +MONDO:0008743 Stimmler syndrome 02-disease-root +MONDO:0008744 alar cartilages hypoplasia-coloboma-telecanthus syndrome 02-disease-root +MONDO:0008745 oculocutaneous albinism type 1A 01-disease-subtype +MONDO:0008746 oculocutaneous albinism type 2 01-disease-subtype +MONDO:0008747 oculocutaneous albinism type 3 01-disease-subtype +MONDO:0008749 pseudohypoparathyroidism type 2 01-disease-subtype +MONDO:0008750 microcephaly-albinism-digital anomalies syndrome 02-disease-root +MONDO:0008752 Alexander disease 02-disease-root +MONDO:0008753 alkaptonuria 01-disease-subtype +MONDO:0008754 alopecia - contractures - dwarfism - intellectual disability syndrome 02-disease-root +MONDO:0008755 Moynahan syndrome 01-disease-subtype +MONDO:0008756 alopecia - intellectual disability syndrome 02-disease-root +MONDO:0008757 alopecia universalis congenita 01-disease-subtype +MONDO:0008758 mitochondrial DNA depletion syndrome 4a 01-disease-subtype +MONDO:0008759 oxoglutaricaciduria 01-disease-subtype +MONDO:0008760 beta-ketothiolase deficiency 01-disease-subtype +MONDO:0008762 autosomal recessive Alport syndrome 01-disease-subtype +MONDO:0008763 Alstrom syndrome 02-disease-root +MONDO:0008766 amaurosis-hypertrichosis syndrome 02-disease-root +MONDO:0008767 neuronal ceroid lipofuscinosis 3 01-disease-subtype +MONDO:0008768 ceroid lipofuscinosis, neuronal, 6B (Kufs type) 01-disease-subtype +MONDO:0008769 neuronal ceroid lipofuscinosis 2 01-disease-subtype +MONDO:0008771 amelogenesis imperfecta type 1G 01-disease-subtype +MONDO:0008774 2-aminoadipic 2-oxoadipic aciduria 01-disease-subtype +MONDO:0008777 gelatinous drop-like corneal dystrophy 01-disease-subtype +MONDO:0008780 amyotrophic lateral sclerosis type 2, juvenile 01-disease-subtype +MONDO:0008783 Tangier disease 01-disease-subtype +MONDO:0008787 microcytic anemia with liver iron overload 01-disease-subtype +MONDO:0008788 IRIDA syndrome 01-disease-subtype +MONDO:0008791 anencephaly 1 01-disease-subtype +MONDO:0008792 familial angiolipomatosis 02-disease-root +MONDO:0008795 aniridia-cerebellar ataxia-intellectual disability syndrome 01-disease-subtype +MONDO:0008796 aniridia-renal agenesis-psychomotor retardation syndrome 01-disease-subtype +MONDO:0008797 anodontia 02-disease-root +MONDO:0008798 nonsyndromic congenital nail disorder 4 01-disease-subtype +MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome 01-disease-subtype +MONDO:0008800 microphthalmia with limb anomalies 02-disease-root +MONDO:0008803 Antley-Bixler syndrome 01-disease-subtype +MONDO:0008806 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome 02-disease-root +MONDO:0008808 aplasia cutis congenita-intestinal lymphangiectasia syndrome 01-disease-subtype +MONDO:0008809 polyneuropathy-hand defect syndrome 01-disease-subtype +MONDO:0008810 familial apolipoprotein C-II deficiency 01-disease-subtype +MONDO:0008812 AREDYLD syndrome 01-disease-subtype +MONDO:0008813 arachnoid cyst 02-disease-root +MONDO:0008814 hyperargininemia 01-disease-subtype +MONDO:0008815 argininosuccinic aciduria 01-disease-subtype +MONDO:0008816 Chiari malformation type II 01-disease-subtype +MONDO:0008818 arterial tortuosity syndrome 02-disease-root +MONDO:0008823 arthrogryposis multiplex congenita 2, neurogenic type 01-disease-subtype +MONDO:0008824 fetal akinesia deformation sequence 02-disease-root +MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome 01-disease-subtype +MONDO:0008826 arthrogryposis-hyperkeratosis syndrome, lethal form 01-disease-subtype +MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood 01-disease-subtype +MONDO:0008830 aspartylglucosaminuria 02-disease-root +MONDO:0008832 right atrial isomerism 01-disease-subtype +MONDO:0008838 ataxia - deafness - intellectual disability syndrome 01-disease-subtype +MONDO:0008840 ataxia telangiectasia 02-disease-root +MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 01-disease-subtype +MONDO:0008843 atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome 01-disease-subtype +MONDO:0008846 atransferrinemia 01-disease-subtype +MONDO:0008847 atrichia with papular lesions 02-disease-root +MONDO:0008848 atrioventricular dissociation 02-disease-root +MONDO:0008849 atrophoderma vermiculata 01-disease-subtype +MONDO:0008850 Cooper-Jabs syndrome 02-disease-root +MONDO:0008853 Barber-Say syndrome 01-disease-subtype +MONDO:0008855 MHC class II deficiency 02-disease-root +MONDO:0008857 Beemer-Ertbruggen syndrome 02-disease-root +MONDO:0008858 Behr syndrome 02-disease-root +MONDO:0008863 sitosterolemia 02-disease-root +MONDO:0008864 Biemond syndrome type 2 02-disease-root +MONDO:0008865 Bietti crystalline corneoretinal dystrophy 02-disease-root +MONDO:0008867 biliary atresia 01-disease-subtype +MONDO:0008869 Seckel syndrome 1 01-disease-subtype +MONDO:0008870 bird headed-dwarfism, Montreal type 02-disease-root +MONDO:0008872 microcephalic osteodysplastic primordial dwarfism type II 01-disease-subtype +MONDO:0008874 Bangstad syndrome 02-disease-root +MONDO:0008875 blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome 02-disease-root +MONDO:0008876 Bloom syndrome 01-disease-subtype +MONDO:0008877 blue diaper syndrome 01-disease-subtype +MONDO:0008878 bone dysplasia, lethal Holmgren type 02-disease-root +MONDO:0008879 Bowen-Conradi syndrome 02-disease-root +MONDO:0008881 kyphomelic dysplasia 01-disease-subtype +MONDO:0008882 congenital bowing of long bones 01-disease-subtype +MONDO:0008884 oculoosteocutaneous syndrome 02-disease-root +MONDO:0008885 Elsahy-Waters syndrome 02-disease-root +MONDO:0008887 bronchiectasis with or without elevated sweat chloride 1 01-disease-subtype +MONDO:0008891 riboflavin transporter deficiency 02-disease-root +MONDO:0008892 progressive familial intrahepatic cholestasis type 1 01-disease-subtype +MONDO:0008893 C syndrome 02-disease-root +MONDO:0008894 cataract-hypertrichosis-intellectual disability syndrome 01-disease-subtype +MONDO:0008895 hereditary arterial and articular multiple calcification syndrome 02-disease-root +MONDO:0008896 campomelia, Cumming type 01-disease-subtype +MONDO:0008898 camptodactyly syndrome, Guadalajara type 1 01-disease-subtype +MONDO:0008899 camptodactyly syndrome, Guadalajara type 2 01-disease-subtype +MONDO:0008901 Tel Hashomer camptodactyly syndrome 02-disease-root +MONDO:0008903 lung cancer 02-disease-root +MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency 01-disease-subtype +MONDO:0008907 PMM2-CDG 01-disease-subtype +MONDO:0008908 MGAT2-CDG 01-disease-subtype +MONDO:0008913 cardiac valvular defect, developmental 02-disease-root +MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome 02-disease-root +MONDO:0008917 heart defects-limb shortening syndrome 02-disease-root +MONDO:0008918 carnitine-acylcarnitine translocase deficiency 01-disease-subtype +MONDO:0008919 systemic primary carnitine deficiency disease 01-disease-subtype +MONDO:0008921 carnosinemia 01-disease-subtype +MONDO:0008922 Sengers syndrome 01-disease-subtype +MONDO:0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia 01-disease-subtype +MONDO:0008924 congenital cataract-ichthyosis syndrome 01-disease-subtype +MONDO:0008925 cataract 46 juvenile-onset 01-disease-subtype +MONDO:0008926 COFS syndrome 02-disease-root +MONDO:0008928 cataract-ataxia-deafness syndrome 02-disease-root +MONDO:0008931 Cenani-Lenz syndactyly syndrome 02-disease-root +MONDO:0008934 cerebellar ataxia-ectodermal dysplasia syndrome 02-disease-root +MONDO:0008935 cerebellar ataxia-hypogonadism syndrome 02-disease-root +MONDO:0008938 early-onset cerebellar ataxia with retained tendon reflexes 01-disease-subtype +MONDO:0008939 isolated cerebellar hypoplasia/agenesis 01-disease-subtype +MONDO:0008941 hepatic fibrosis-renal cysts-intellectual disability syndrome 01-disease-subtype +MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 01-disease-subtype +MONDO:0008947 bilateral striopallidodentate calcinosis 02-disease-root +MONDO:0008948 cerebrotendinous xanthomatosis 01-disease-subtype +MONDO:0008952 cerebrofaciothoracic dysplasia 02-disease-root +MONDO:0008959 CHAND syndrome 02-disease-root +MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome 02-disease-root +MONDO:0008961 Charcot-Marie-Tooth disease type 4A 01-disease-subtype +MONDO:0008962 Griscelli syndrome type 1 01-disease-subtype +MONDO:0008963 Chediak-Higashi syndrome 01-disease-subtype +MONDO:0008964 congenital secretory chloride diarrhea 1 01-disease-subtype +MONDO:0008965 CHARGE syndrome 02-disease-root +MONDO:0008966 Aagenaes syndrome 01-disease-subtype +MONDO:0008967 congenital bile acid synthesis defect 4 01-disease-subtype +MONDO:0008970 chondrodysplasia Blomstrand type 02-disease-root +MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 01-disease-subtype +MONDO:0008973 chondrodysplasia punctata, Toriello type 01-disease-subtype +MONDO:0008974 Greenberg dysplasia 01-disease-subtype +MONDO:0008975 otospondylomegaepiphyseal dysplasia 02-disease-root +MONDO:0008978 chordoma 01-disease-subtype +MONDO:0008979 chorea, benign familial 01-disease-subtype +MONDO:0008980 ataxia-hypogonadism-choroidal dystrophy syndrome 02-disease-root +MONDO:0008982 central areolar choroidal dystrophy 02-disease-root +MONDO:0008988 citrullinemia type I 01-disease-subtype +MONDO:0008990 cleft larynx, posterior 01-disease-subtype +MONDO:0008991 Verloove Vanhorick-Brubakk syndrome 02-disease-root +MONDO:0008992 Juberg-Hayward syndrome 02-disease-root +MONDO:0008993 cleft palate-stapes fixation-oligodontia syndrome 02-disease-root +MONDO:0008995 Yunis-Varon syndrome 02-disease-root +MONDO:0008996 COACH syndrome 1 01-disease-subtype +MONDO:0008998 Cockayne syndrome type 3 01-disease-subtype +MONDO:0008999 Cohen syndrome 01-disease-subtype +MONDO:0009000 familial reactive perforating collagenosis 02-disease-root +MONDO:0009001 macular coloboma-cleft palate-hallux valgus syndrome 02-disease-root +MONDO:0009007 Jalili syndrome 02-disease-root +MONDO:0009008 heart defect - tongue hamartoma - polysyndactyly syndrome 02-disease-root +MONDO:0009009 hypoplasminogenemia 02-disease-root +MONDO:0009011 constriction rings syndrome 01-disease-subtype +MONDO:0009012 multiple pterygium-malignant hyperthermia syndrome 01-disease-subtype +MONDO:0009015 corneal dystrophy-perceptive deafness syndrome 01-disease-subtype +MONDO:0009018 central cloudy dystrophy of François 01-disease-subtype +MONDO:0009019 congenital hereditary endothelial dystrophy of cornea 01-disease-subtype +MONDO:0009020 macular corneal dystrophy 01-disease-subtype +MONDO:0009021 Toriello-Carey syndrome 02-disease-root +MONDO:0009024 cortical blindness-intellectual disability-polydactyly syndrome 02-disease-root +MONDO:0009025 apparent mineralocorticoid excess 01-disease-subtype +MONDO:0009026 Costello syndrome 01-disease-subtype +MONDO:0009028 Crane-Heise syndrome 02-disease-root +MONDO:0009031 craniodiaphyseal dysplasia 01-disease-subtype +MONDO:0009032 cranioectodermal dysplasia 02-disease-root +MONDO:0009033 temtamy syndrome 02-disease-root +MONDO:0009034 craniofacial dyssynostosis 02-disease-root +MONDO:0009036 cardiocranial syndrome, Pfeiffer type 02-disease-root +MONDO:0009038 craniosynostosis-fibular aplasia syndrome 02-disease-root +MONDO:0009039 Baller-Gerold syndrome 02-disease-root +MONDO:0009042 craniotelencephalic dysplasia 02-disease-root +MONDO:0009043 generalized resistance to thyroid hormone 01-disease-subtype +MONDO:0009044 Crigler-Najjar syndrome 01-disease-subtype +MONDO:0009045 cataract-nephropathy-encephalopathy syndrome 02-disease-root +MONDO:0009046 Fraser syndrome 02-disease-root +MONDO:0009053 ALDH18A1-related de Barsy syndrome 01-disease-subtype +MONDO:0009054 autosomal recessive cutis laxa type 2, classic type 01-disease-subtype +MONDO:0009058 cystathioninuria 02-disease-root +MONDO:0009061 cystic fibrosis 02-disease-root +MONDO:0009062 cystic fibrosis-gastritis-megaloblastic anemia syndrome 02-disease-root +MONDO:0009063 ventriculomegaly-cystic kidney disease 02-disease-root +MONDO:0009064 ocular cystinosis 01-disease-subtype +MONDO:0009067 cystinuria 01-disease-subtype +MONDO:0009068 cytochrome-c oxidase deficiency disease 01-disease-subtype +MONDO:0009069 congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 01-disease-subtype +MONDO:0009070 D-glyceric aciduria 02-disease-root +MONDO:0009071 hereditary renal hypouricemia 02-disease-root +MONDO:0009074 facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome 02-disease-root +MONDO:0009075 Dandy-Walker malformation-postaxial polydactyly syndrome 02-disease-root +MONDO:0009079 DOORS syndrome 01-disease-subtype +MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss 02-disease-root +MONDO:0009082 high myopia-sensorineural deafness syndrome 02-disease-root +MONDO:0009084 conductive deafness-ptosis-skeletal anomalies syndrome 02-disease-root +MONDO:0009085 deafness-vitiligo-achalasia syndrome 02-disease-root +MONDO:0009086 deafness-small bowel diverticulosis-neuropathy syndrome 02-disease-root +MONDO:0009089 deafness-oligodontia syndrome 02-disease-root +MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities 01-disease-subtype +MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly 02-disease-root +MONDO:0009094 dermochondrocorneal dystrophy 01-disease-subtype +MONDO:0009095 dermatoosteolysis, Kirghizian type 02-disease-root +MONDO:0009097 persistent hyperplastic primary vitreous, autosomal recessive 01-disease-subtype +MONDO:0009099 nephrogenic diabetes insipidus-intracranial calcification syndrome 02-disease-root +MONDO:0009104 Donnai-Barrow syndrome 02-disease-root +MONDO:0009105 trichohepatoenteric syndrome 02-disease-root +MONDO:0009106 diastematomyelia 02-disease-root +MONDO:0009107 diastrophic dysplasia 02-disease-root +MONDO:0009108 hyperdibasic aminoaciduria type 1 01-disease-subtype +MONDO:0009109 lysinuric protein intolerance 01-disease-subtype +MONDO:0009110 dicarboxylic aminoaciduria 01-disease-subtype +MONDO:0009111 dihydropyrimidinuria 01-disease-subtype +MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 01-disease-subtype +MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency 01-disease-subtype +MONDO:0009114 congenital sucrase-isomaltase deficiency 01-disease-subtype +MONDO:0009115 congenital lactase deficiency 02-disease-root +MONDO:0009120 diverticulosis of bowel, hernia, and retinal detachment 01-disease-subtype +MONDO:0009121 von Voss-Cherstvoy syndrome 02-disease-root +MONDO:0009123 dopamine beta-hydroxylase deficiency 01-disease-subtype +MONDO:0009124 Dubowitz syndrome 02-disease-root +MONDO:0009126 duodenal atresia 01-disease-subtype +MONDO:0009128 dwarfism, intellectual disability, and eye abnormality 02-disease-root +MONDO:0009130 Dyggve-Melchior-Clausen disease 01-disease-subtype +MONDO:0009131 Riley-Day syndrome 01-disease-subtype +MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium 02-disease-root +MONDO:0009134 congenital dyserythropoietic anemia type 2 01-disease-subtype +MONDO:0009138 dysosteosclerosis 01-disease-subtype +MONDO:0009139 dyssegmental dysplasia, Rolland-Desbuquois type 01-disease-subtype +MONDO:0009140 Silverman-Handmaker type dyssegmental dysplasia 01-disease-subtype +MONDO:0009141 torsion dystonia 2 01-disease-subtype +MONDO:0009145 SchC6pf-Schulz-Passarge syndrome 01-disease-subtype +MONDO:0009146 ectodermal dysplasia-sensorineural deafness syndrome 02-disease-root +MONDO:0009148 Rosselli-Gulienetti syndrome 01-disease-subtype +MONDO:0009149 ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome 02-disease-root +MONDO:0009150 hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome 01-disease-subtype +MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome 01-disease-subtype +MONDO:0009155 EEM syndrome 02-disease-root +MONDO:0009156 ectrodactyly-polydactyly syndrome 02-disease-root +MONDO:0009158 Ehlers-Danlos syndrome, fibronectinemic type 01-disease-subtype +MONDO:0009159 Ehlers-Danlos syndrome, cardiac valvular type 01-disease-subtype +MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type 01-disease-subtype +MONDO:0009162 Ellis-van Creveld syndrome 01-disease-subtype +MONDO:0009166 pontocerebellar hypoplasia type 4 01-disease-subtype +MONDO:0009167 Bonnemann-Meinecke-Reich syndrome 02-disease-root +MONDO:0009168 Fowler syndrome 02-disease-root +MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency 02-disease-root +MONDO:0009176 epidermodysplasia verruciformis 02-disease-root +MONDO:0009177 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome 01-disease-subtype +MONDO:0009179 recessive dystrophic epidermolysis bullosa 01-disease-subtype +MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type 01-disease-subtype +MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy 01-disease-subtype +MONDO:0009182 junctional epidermolysis bullosa Herlitz type 01-disease-subtype +MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia 01-disease-subtype +MONDO:0009185 amelocerebrohypohidrotic syndrome 02-disease-root +MONDO:0009188 epilepsy-telangiectasia syndrome 01-disease-subtype +MONDO:0009189 multiple epiphyseal dysplasia type 4 01-disease-subtype +MONDO:0009191 Lowry-Wood syndrome 01-disease-subtype +MONDO:0009192 Wolcott-Rallison syndrome 01-disease-subtype +MONDO:0009196 ermine phenotype 02-disease-root +MONDO:0009198 congenital lethal erythroderma 02-disease-root +MONDO:0009200 eyebrow duplication-syndactyly syndrome 02-disease-root +MONDO:0009203 focal facial dermal dysplasia type III 01-disease-subtype +MONDO:0009204 lethal faciocardiomelic dysplasia 02-disease-root +MONDO:0009205 faciocardiorenal syndrome 02-disease-root +MONDO:0009206 factor V and factor VIII, combined deficiency of, type 1 01-disease-subtype +MONDO:0009209 autosomal recessive faciodigitogenital syndrome 01-disease-subtype +MONDO:0009210 congenital factor V deficiency 01-disease-subtype +MONDO:0009211 congenital factor VII deficiency 01-disease-subtype +MONDO:0009212 congenital factor X deficiency 01-disease-subtype +MONDO:0009213 Fanconi anemia complementation group C 01-disease-subtype +MONDO:0009214 Fanconi anemia complementation group D2 01-disease-subtype +MONDO:0009216 glycogen storage disease due to GLUT2 deficiency 02-disease-root +MONDO:0009218 Farber lipogranulomatosis 02-disease-root +MONDO:0009221 femur-fibula-ulna complex 02-disease-root +MONDO:0009222 Gollop-Wolfgang complex 02-disease-root +MONDO:0009223 hypogonadotropic hypogonadism 23 with or without anosmia 01-disease-subtype +MONDO:0009228 gingival fibromatosis-facial dysmorphism syndrome 02-disease-root +MONDO:0009229 hyaline fibromatosis syndrome 02-disease-root +MONDO:0009230 fibrosclerosis, multifocal 01-disease-subtype +MONDO:0009231 acromesomelic dysplasia 2B 01-disease-subtype +MONDO:0009232 Fuhrmann syndrome 02-disease-root +MONDO:0009233 Fibulo-ulnar hypoplasia-renal anomalies syndrome 02-disease-root +MONDO:0009234 congenital high-molecular-weight kininogen deficiency 02-disease-root +MONDO:0009235 familial benign flecked retina 02-disease-root +MONDO:0009236 Kandori fleck retina 02-disease-root +MONDO:0009238 hereditary folate malabsorption 01-disease-subtype +MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia 01-disease-subtype +MONDO:0009240 formiminoglutamic aciduria 01-disease-subtype +MONDO:0009241 fountain syndrome 02-disease-root +MONDO:0009242 brittle cornea syndrome 02-disease-root +MONDO:0009247 frontofacionasal dysplasia 01-disease-subtype +MONDO:0009249 hereditary fructose intolerance 02-disease-root +MONDO:0009251 fructose-1,6-bisphosphatase deficiency 02-disease-root +MONDO:0009252 essential fructosuria 02-disease-root +MONDO:0009253 Fryns syndrome 02-disease-root +MONDO:0009254 fucosidosis 02-disease-root +MONDO:0009255 galactokinase deficiency 01-disease-subtype +MONDO:0009257 galactose epimerase deficiency 01-disease-subtype +MONDO:0009258 classic galactosemia 01-disease-subtype +MONDO:0009259 gamma-glutamylcysteine synthetase deficiency 01-disease-subtype +MONDO:0009260 GM1 gangliosidosis type 1 01-disease-subtype +MONDO:0009261 GM1 gangliosidosis type 2 01-disease-subtype +MONDO:0009262 GM1 gangliosidosis type 3 01-disease-subtype +MONDO:0009263 gapo syndrome 02-disease-root +MONDO:0009265 Gaucher disease type I 01-disease-subtype +MONDO:0009266 Gaucher disease type II 01-disease-subtype +MONDO:0009267 Gaucher disease type III 01-disease-subtype +MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome 01-disease-subtype +MONDO:0009270 genito-palato-cardiac syndrome 01-disease-subtype +MONDO:0009271 geroderma osteodysplastica 02-disease-root +MONDO:0009272 German syndrome 01-disease-subtype +MONDO:0009273 hydatidiform mole, recurrent, 1 01-disease-subtype +MONDO:0009274 ghosal hematodiaphyseal dysplasia 02-disease-root +MONDO:0009275 neonatal hemochromatosis 01-disease-subtype +MONDO:0009276 Bernard-Soulier syndrome 01-disease-subtype +MONDO:0009279 triple-A syndrome 01-disease-subtype +MONDO:0009281 glutaryl-CoA dehydrogenase deficiency 02-disease-root +MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency 01-disease-subtype +MONDO:0009283 glutaric acidemia type 3 02-disease-root +MONDO:0009284 glutathione synthetase deficiency without 5-oxoprolinuria 01-disease-subtype +MONDO:0009285 gamma-glutamyl transpeptidase deficiency 01-disease-subtype +MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA 01-disease-subtype +MONDO:0009288 glycogen storage disease Ib 01-disease-subtype +MONDO:0009290 glycogen storage disease II 01-disease-subtype +MONDO:0009291 glycogen storage disease III 02-disease-root +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency 02-disease-root +MONDO:0009293 glycogen storage disease V 02-disease-root +MONDO:0009294 glycogen storage disease VI 02-disease-root +MONDO:0009295 glycogen storage disease VII 01-disease-subtype +MONDO:0009297 familial renal glucosuria 02-disease-root +MONDO:0009299 46 XX gonadal dysgenesis 02-disease-root +MONDO:0009302 XY type gonadal dysgenesis-associated anomalies syndrome 01-disease-subtype +MONDO:0009305 granulocytopenia with immunoglobulin abnormality 02-disease-root +MONDO:0009306 combined immunodeficiency with skin granulomas 01-disease-subtype +MONDO:0009312 lipodystrophy due to peptidic growth factors deficiency 01-disease-subtype +MONDO:0009313 Grubben-de Cock-Borghgraef syndrome 02-disease-root +MONDO:0009315 congenital factor XII deficiency 02-disease-root +MONDO:0009318 Hallermann-Streiff syndrome 02-disease-root +MONDO:0009319 pantothenate kinase-associated neurodegeneration 01-disease-subtype +MONDO:0009320 Hall-Riggs syndrome 02-disease-root +MONDO:0009321 hallux varus-preaxial polysyndactyly syndrome 02-disease-root +MONDO:0009324 Hartnup disease 01-disease-subtype +MONDO:0009326 congenital heart block 01-disease-subtype +MONDO:0009329 pulmonary venoocclusive disease 2 01-disease-subtype +MONDO:0009331 isolated hemihyperplasia 01-disease-subtype +MONDO:0009332 congenital hematological disorder 03-disease-area +MONDO:0009333 mullerian derivatives-lymphangiectasia-polydactyly syndrome 01-disease-subtype +MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome 01-disease-subtype +MONDO:0009339 congenital bile acid synthesis defect 2 01-disease-subtype +MONDO:0009340 non-spherocytic hemolytic anemia due to hexokinase deficiency 01-disease-subtype +MONDO:0009341 Mowat-Wilson syndrome 01-disease-subtype +MONDO:0009342 Hirschsprung disease-hearing loss-polydactyly syndrome 02-disease-root +MONDO:0009344 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome 01-disease-subtype +MONDO:0009345 histidinemia 01-disease-subtype +MONDO:0009346 histidinuria due to a renal tubular defect 01-disease-subtype +MONDO:0009348 classic Hodgkin lymphoma 01-disease-subtype +MONDO:0009350 Holzgreve-Wagner-Rehder syndrome 02-disease-root +MONDO:0009351 homocarnosinosis 01-disease-subtype +MONDO:0009352 classic homocystinuria 01-disease-subtype +MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency 01-disease-subtype +MONDO:0009354 methylcobalamin deficiency type cblE 01-disease-subtype +MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome 01-disease-subtype +MONDO:0009362 growth delay-hydrocephaly-lung hypoplasia syndrome 01-disease-subtype +MONDO:0009363 hydrocephaly-tall stature-joint laxity syndrome 02-disease-root +MONDO:0009367 McKusick-Kaufman syndrome 02-disease-root +MONDO:0009370 L-2-hydroxyglutaric aciduria 01-disease-subtype +MONDO:0009371 3-hydroxyisobutyric aciduria 01-disease-subtype +MONDO:0009372 encephalopathy due to hydroxykynureninuria 01-disease-subtype +MONDO:0009373 seizures-intellectual disability due to hydroxylysinuria syndrome 01-disease-subtype +MONDO:0009374 hydroxyprolinemia 02-disease-root +MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency 01-disease-subtype +MONDO:0009378 hyper-beta-alaninemia 01-disease-subtype +MONDO:0009379 Rotor syndrome 01-disease-subtype +MONDO:0009380 Dubin-Johnson syndrome 01-disease-subtype +MONDO:0009383 transient familial neonatal hyperbilirubinemia 01-disease-subtype +MONDO:0009384 Leydig cell hypoplasia, type 1 01-disease-subtype +MONDO:0009387 familial lipoprotein lipase deficiency 01-disease-subtype +MONDO:0009388 hyperlysinemia 01-disease-subtype +MONDO:0009393 ornithine translocase deficiency 01-disease-subtype +MONDO:0009394 juvenile Paget disease 01-disease-subtype +MONDO:0009395 hyperostosis corticalis generalisata 02-disease-root +MONDO:0009397 neonatal severe primary hyperparathyroidism 01-disease-subtype +MONDO:0009400 hyperprolinemia type 1 01-disease-subtype +MONDO:0009401 hyperprolinemia type 2 01-disease-subtype +MONDO:0009402 acrofrontofacionasal dysostosis 2 01-disease-subtype +MONDO:0009404 hypertelorism, microtia, facial clefting syndrome 02-disease-root +MONDO:0009405 cervical hypertrichosis-peripheral neuropathy syndrome 01-disease-subtype +MONDO:0009406 hypertrichotic osteochondrodysplasia Cantu type 02-disease-root +MONDO:0009411 autoimmune polyendocrine syndrome type 1 01-disease-subtype +MONDO:0009413 immunodeficiency, common variable, 2 01-disease-subtype +MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency 02-disease-root +MONDO:0009416 hypoinsulinemic hypoglycemia and body hemihypertrophy 01-disease-subtype +MONDO:0009417 hypergonadotropic hypogonadism-cataract syndrome 01-disease-subtype +MONDO:0009419 Woodhouse-Sakati syndrome 01-disease-subtype +MONDO:0009420 primary hypergonadotropic hypogonadism-partial alopecia syndrome 02-disease-root +MONDO:0009425 hypomandibular faciocranial dysostosis 02-disease-root +MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome 02-disease-root +MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria 01-disease-subtype +MONDO:0009435 hypospadias-intellectual disability, Goldblatt type syndrome 02-disease-root +MONDO:0009436 congenital hypothalamic hamartoma syndrome 01-disease-subtype +MONDO:0009437 Bamforth-Lazarus syndrome 01-disease-subtype +MONDO:0009440 ichthyosiform erythroderma, corneal involvement, and hearing loss 01-disease-subtype +MONDO:0009443 autosomal recessive congenital ichthyosis 4B 01-disease-subtype +MONDO:0009444 ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome 02-disease-root +MONDO:0009445 ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome 02-disease-root +MONDO:0009446 ichthyosis-intellectual disability-dwarfism-renal impairment syndrome 02-disease-root +MONDO:0009448 iminoglycinuria 01-disease-subtype +MONDO:0009451 Nezelof syndrome 02-disease-root +MONDO:0009452 Vici syndrome 01-disease-subtype +MONDO:0009453 immune deficiency disease 03-disease-area +MONDO:0009458 Schimke immuno-osseous dysplasia 01-disease-subtype +MONDO:0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive 01-disease-subtype +MONDO:0009461 spermatogenic failure 5 01-disease-subtype +MONDO:0009465 multiple intestinal atresia 01-disease-subtype +MONDO:0009467 natal teeth-intestinal pseudoobstruction-patent ductus syndrome 02-disease-root +MONDO:0009469 benign recurrent intrahepatic cholestasis type 1 01-disease-subtype +MONDO:0009473 isotretinoin-like syndrome 02-disease-root +MONDO:0009475 isovaleric acidemia 02-disease-root +MONDO:0009476 atresia of small intestine 01-disease-subtype +MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency 01-disease-subtype +MONDO:0009479 Johanson-Blizzard syndrome 01-disease-subtype +MONDO:0009480 Joubert syndrome with oculorenal defect 02-disease-root +MONDO:0009483 kapur-Toriello syndrome 02-disease-root +MONDO:0009485 oculocerebrofacial syndrome, Kaufman type 02-disease-root +MONDO:0009486 autosomal recessive Kenny-Caffey syndrome 01-disease-subtype +MONDO:0009489 hereditary palmoplantar keratoderma, Gamborg-Nielsen type 01-disease-subtype +MONDO:0009490 Papillon-Lefevre disease 01-disease-subtype +MONDO:0009491 Haim-Munk syndrome 01-disease-subtype +MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency 01-disease-subtype +MONDO:0009493 Richards-Rundle syndrome 02-disease-root +MONDO:0009495 Keutel syndrome 01-disease-subtype +MONDO:0009498 lethal Kniest-like dysplasia 02-disease-root +MONDO:0009499 Krabbe disease 02-disease-root +MONDO:0009501 metabolic myopathy due to lactate transporter defect 02-disease-root +MONDO:0009502 pyruvate dehydrogenase E2 deficiency 01-disease-subtype +MONDO:0009503 pyruvate dehydrogenase E3-binding protein deficiency 01-disease-subtype +MONDO:0009504 mitochondrial DNA depletion syndrome 9 01-disease-subtype +MONDO:0009505 lactic aciduria due to D-lactic acid 02-disease-root +MONDO:0009506 specific granule deficiency 02-disease-root +MONDO:0009507 Lambert syndrome 02-disease-root +MONDO:0009511 Larsen-like syndrome, B3GAT3 type 01-disease-subtype +MONDO:0009512 lethal Larsen-like syndrome 02-disease-root +MONDO:0009513 laryngo-onycho-cutaneous syndrome 01-disease-subtype +MONDO:0009514 Laurence-Moon syndrome 02-disease-root +MONDO:0009515 Norum disease 01-disease-subtype +MONDO:0009516 absence deformity of leg-cataract syndrome 02-disease-root +MONDO:0009517 Donohue syndrome 01-disease-subtype +MONDO:0009520 3-hydroxy-3-methylglutaric aciduria 01-disease-subtype +MONDO:0009522 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome 02-disease-root +MONDO:0009523 Lichtenstein syndrome 01-disease-subtype +MONDO:0009524 intellectual disability-spasticity-ectrodactyly syndrome 02-disease-root +MONDO:0009525 split hand-foot malformation 3 01-disease-subtype +MONDO:0009528 chylomicron retention disease 01-disease-subtype +MONDO:0009529 pyruvate dehydrogenase E3 deficiency 01-disease-subtype +MONDO:0009530 lipoid proteinosis 02-disease-root +MONDO:0009532 Miller-Dieker lissencephaly syndrome 01-disease-subtype +MONDO:0009533 Dahlberg-Borer-Newcomer syndrome 01-disease-subtype +MONDO:0009543 prominent glabella-microcephaly-hypogenitalism syndrome 02-disease-root +MONDO:0009544 macrocephaly/megalencephaly syndrome, autosomal recessive 01-disease-subtype +MONDO:0009547 macrosomia-microphthalmia-cleft palate syndrome 02-disease-root +MONDO:0009548 renal hypomagnesemia 5 with ocular involvement 01-disease-subtype +MONDO:0009549 severe early-childhood-onset retinal dystrophy 01-disease-subtype +MONDO:0009550 renal hypomagnesemia 3 01-disease-subtype +MONDO:0009552 mal de Meleda 01-disease-subtype +MONDO:0009556 malonic aciduria 02-disease-root +MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy 01-disease-subtype +MONDO:0009559 mandibulofacial dysostosis with mental deficiency 02-disease-root +MONDO:0009560 oculotrichoanal syndrome 02-disease-root +MONDO:0009561 alpha-mannosidosis 01-disease-subtype +MONDO:0009562 beta-mannosidosis 02-disease-root +MONDO:0009563 maple syrup urine disease 02-disease-root +MONDO:0009564 Marden-Walker syndrome 01-disease-subtype +MONDO:0009565 microcephaly-glomerulonephritis-marfanoid habitus syndrome 02-disease-root +MONDO:0009566 marfanoid habitus-autosomal recessive intellectual disability syndrome 02-disease-root +MONDO:0009567 Marinesco-Sjogren syndrome 01-disease-subtype +MONDO:0009568 mast syndrome 01-disease-subtype +MONDO:0009569 Hennekam-Beemer syndrome 02-disease-root +MONDO:0009570 McDonough syndrome 02-disease-root +MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome 01-disease-subtype +MONDO:0009576 megalocornea 02-disease-root +MONDO:0009577 megalocornea-intellectual disability syndrome 02-disease-root +MONDO:0009578 neurocutaneous melanocytosis 02-disease-root +MONDO:0009579 Frank-Ter Haar syndrome 01-disease-subtype +MONDO:0009580 intellectual disability, autosomal recessive 1 01-disease-subtype +MONDO:0009581 intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome 02-disease-root +MONDO:0009582 Mietens syndrome 01-disease-subtype +MONDO:0009583 blepharophimosis - intellectual disability syndrome, Ohdo type 01-disease-subtype +MONDO:0009584 intellectual disability, Buenos-Aires type 02-disease-root +MONDO:0009585 encephalopathy due to beta-mercaptolactate-cysteine disulfiduria 02-disease-root +MONDO:0009588 Langer mesomelic dysplasia 02-disease-root +MONDO:0009589 mesomelic dwarfism-cleft palate-camptodactyly syndrome 02-disease-root +MONDO:0009591 metachromatic leukodystrophy, juvenile form 01-disease-subtype +MONDO:0009592 metaphyseal acroscyphodysplasia 01-disease-subtype +MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type 02-disease-root +MONDO:0009594 metaphyseal chondrodysplasia, Kaitila type 01-disease-subtype +MONDO:0009595 cartilage-hair hypoplasia 01-disease-subtype +MONDO:0009597 metaphyseal chondrodysplasia, Spahr type 01-disease-subtype +MONDO:0009598 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome 01-disease-subtype +MONDO:0009599 metaphyseal dysostosis-intellectual disability-conductive deafness syndrome 01-disease-subtype +MONDO:0009601 metaphyseal dysplasia without hypotrichosis 01-disease-subtype +MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency 01-disease-subtype +MONDO:0009607 methionine adenosyltransferase deficiency 02-disease-root +MONDO:0009609 methylcobalamin deficiency type cblG 01-disease-subtype +MONDO:0009610 3-methylglutaconic aciduria type 1 01-disease-subtype +MONDO:0009611 3-methylglutaconic aciduria type 4 01-disease-subtype +MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 01-disease-subtype +MONDO:0009613 vitamin B12-responsive methylmalonic acidemia type cblA 01-disease-subtype +MONDO:0009614 vitamin B12-responsive methylmalonic acidemia type cblB 01-disease-subtype +MONDO:0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency 01-disease-subtype +MONDO:0009616 microcephalic primordial dwarfism, Toriello type 02-disease-root +MONDO:0009617 microcephaly 1, primary, autosomal recessive 01-disease-subtype +MONDO:0009618 microcephaly-cardiomyopathy syndrome 02-disease-root +MONDO:0009619 microcephaly-micromelia syndrome 02-disease-root +MONDO:0009620 Say-Barber-Miller syndrome 02-disease-root +MONDO:0009621 microcephaly-cervical spine fusion anomalies syndrome 02-disease-root +MONDO:0009622 Jawad syndrome 02-disease-root +MONDO:0009623 Nijmegen breakage syndrome 02-disease-root +MONDO:0009624 microcephaly and chorioretinopathy 1 01-disease-subtype +MONDO:0009626 pseudo-TORCH syndrome 02-disease-root +MONDO:0009627 Galloway-Mowat syndrome 02-disease-root +MONDO:0009633 microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma 02-disease-root +MONDO:0009635 microvillus inclusion disease 01-disease-subtype +MONDO:0009636 mitochondrial DNA depletion syndrome 3 01-disease-subtype +MONDO:0009637 inborn mitochondrial myopathy 03-disease-area +MONDO:0009642 orofaciodigital syndrome type II 01-disease-subtype +MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 01-disease-subtype +MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B 01-disease-subtype +MONDO:0009650 mucolipidosis type II 01-disease-subtype +MONDO:0009652 mucolipidosis type III gamma 01-disease-subtype +MONDO:0009653 mucolipidosis type IV 01-disease-subtype +MONDO:0009655 Sanfilippo syndrome type A 01-disease-subtype +MONDO:0009656 Sanfilippo syndrome type B 01-disease-subtype +MONDO:0009657 Sanfilippo syndrome type C 01-disease-subtype +MONDO:0009658 Sanfilippo syndrome type D 01-disease-subtype +MONDO:0009659 mucopolysaccharidosis type 4A 01-disease-subtype +MONDO:0009660 mucopolysaccharidosis type 4B 01-disease-subtype +MONDO:0009661 mucopolysaccharidosis type 6 01-disease-subtype +MONDO:0009662 mucopolysaccharidosis type 7 01-disease-subtype +MONDO:0009664 mulibrey nanism 01-disease-subtype +MONDO:0009665 biotinidase deficiency 01-disease-subtype +MONDO:0009666 holocarboxylase synthetase deficiency 01-disease-subtype +MONDO:0009667 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 01-disease-subtype +MONDO:0009668 lethal multiple pterygium syndrome 02-disease-root +MONDO:0009669 spinal muscular atrophy, type 1 01-disease-subtype +MONDO:0009670 lethal congenital contracture syndrome 1 01-disease-subtype +MONDO:0009671 intellectual disability-myopathy-short stature-endocrine defect syndrome 01-disease-subtype +MONDO:0009672 spinal muscular atrophy, type III 01-disease-subtype +MONDO:0009673 spinal muscular atrophy, type II 01-disease-subtype +MONDO:0009675 autosomal recessive limb-girdle muscular dystrophy type 2A 01-disease-subtype +MONDO:0009676 autosomal recessive limb-girdle muscular dystrophy type 2B 01-disease-subtype +MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C 01-disease-subtype +MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 01-disease-subtype +MONDO:0009679 arthrogryposis due to muscular dystrophy 01-disease-subtype +MONDO:0009680 congenital muscular dystrophy-infantile cataract-hypogonadism syndrome 02-disease-root +MONDO:0009683 autosomal recessive limb-girdle muscular dystrophy type 2H 01-disease-subtype +MONDO:0009685 Miyoshi myopathy 02-disease-root +MONDO:0009694 myeloperoxidase deficiency 02-disease-root +MONDO:0009696 juvenile myoclonic epilepsy 02-disease-root +MONDO:0009697 Lafora disease 01-disease-subtype +MONDO:0009698 Unverricht-Lundborg syndrome 01-disease-subtype +MONDO:0009699 action myoclonus-renal failure syndrome 01-disease-subtype +MONDO:0009700 Carey-Fineman-Ziter syndrome 02-disease-root +MONDO:0009703 myopathy with abnormal lipid metabolism 02-disease-root +MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form 01-disease-subtype +MONDO:0009705 carnitine palmitoyl transferase 1A deficiency 01-disease-subtype +MONDO:0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency 02-disease-root +MONDO:0009709 myopathy, centronuclear, 2 01-disease-subtype +MONDO:0009710 Thomsen and Becker disease 01-disease-subtype +MONDO:0009711 congenital fiber-type disproportion myopathy 01-disease-subtype +MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia 01-disease-subtype +MONDO:0009714 myosclerosis 01-disease-subtype +MONDO:0009716 Richieri Costa-da Silva syndrome 01-disease-subtype +MONDO:0009717 Schwartz-Jampel syndrome 01-disease-subtype +MONDO:0009719 familial atrial myxoma 01-disease-subtype +MONDO:0009720 Keipert syndrome 02-disease-root +MONDO:0009721 Nathalie syndrome 01-disease-subtype +MONDO:0009722 Bailey-Bloch congenital myopathy 01-disease-subtype +MONDO:0009723 Leigh syndrome 02-disease-root +MONDO:0009724 nail-patella-like renal disease 02-disease-root +MONDO:0009726 proteosome-associated autoinflammatory syndrome 02-disease-root +MONDO:0009727 atelosteogenesis type II 01-disease-subtype +MONDO:0009728 nephronophthisis 1 01-disease-subtype +MONDO:0009729 nephropathy - deafness - hyperparathyroidism syndrome 02-disease-root +MONDO:0009731 nephrosis-deafness-urinary tract-digital malformations syndrome 02-disease-root +MONDO:0009732 congenital nephrotic syndrome, Finnish type 01-disease-subtype +MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 02-disease-root +MONDO:0009735 Netherton syndrome 02-disease-root +MONDO:0009737 galactosialidosis 02-disease-root +MONDO:0009738 sialidosis type 2 01-disease-subtype +MONDO:0009740 neurofaciodigitorenal syndrome 02-disease-root +MONDO:0009742 neuroectodermal melanolysosomal disease 01-disease-subtype +MONDO:0009744 neuronal ceroid lipofuscinosis 1 01-disease-subtype +MONDO:0009745 neuronal ceroid lipofuscinosis 5 01-disease-subtype +MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 01-disease-subtype +MONDO:0009747 Navajo neurohepatopathy 01-disease-subtype +MONDO:0009748 hereditary sensory and autonomic neuropathy with spastic paraplegia 01-disease-subtype +MONDO:0009756 Niemann-Pick disease type A 01-disease-subtype +MONDO:0009760 Norman-Roberts syndrome 01-disease-subtype +MONDO:0009764 ocular motor apraxia, Cogan type 02-disease-root +MONDO:0009767 oculocerebral hypopigmentation syndrome, Cross type 02-disease-root +MONDO:0009769 oculo-palato-cerebral syndrome 02-disease-root +MONDO:0009771 oculotrichodysplasia 02-disease-root +MONDO:0009773 odonto-onycho-dermal dysplasia 01-disease-subtype +MONDO:0009774 cloacal exstrophy 01-disease-subtype +MONDO:0009776 spermatogenic failure 1 01-disease-subtype +MONDO:0009777 Oliver syndrome 02-disease-root +MONDO:0009779 autosomal recessive omodysplasia 01-disease-subtype +MONDO:0009780 lethal omphalocele-cleft palate syndrome 02-disease-root +MONDO:0009785 opsismodysplasia 02-disease-root +MONDO:0009786 optic atrophy 6 01-disease-subtype +MONDO:0009787 3-methylglutaconic aciduria type 3 01-disease-subtype +MONDO:0009792 ichthyosis-oral and digital anomalies syndrome 02-disease-root +MONDO:0009793 orofaciodigital syndrome III 01-disease-subtype +MONDO:0009794 orofaciodigital syndrome IV 01-disease-subtype +MONDO:0009795 orofaciodigital syndrome IX 01-disease-subtype +MONDO:0009796 ornithine aminotransferase deficiency 01-disease-subtype +MONDO:0009797 orotic aciduria 01-disease-subtype +MONDO:0009798 intellectual disability-cataracts-calcified pinnae-myopathy syndrome 02-disease-root +MONDO:0009801 familial osteodysplasia, Anderson type 02-disease-root +MONDO:0009803 congenital osteogenesis imperfecta-microcephaly-cataracts syndrome 02-disease-root +MONDO:0009804 osteogenesis imperfecta type 3 01-disease-subtype +MONDO:0009810 autosomal recessive distal osteolysis syndrome 02-disease-root +MONDO:0009814 osteopenia-intellectual disability-sparse hair syndrome 02-disease-root +MONDO:0009815 autosomal recessive osteopetrosis 1 01-disease-subtype +MONDO:0009816 autosomal recessive osteopetrosis 2 01-disease-subtype +MONDO:0009818 autosomal recessive osteopetrosis 3 01-disease-subtype +MONDO:0009820 osteoporosis-pseudoglioma syndrome 02-disease-root +MONDO:0009821 lethal osteosclerotic bone dysplasia 02-disease-root +MONDO:0009823 primary hyperoxaluria type 1 01-disease-subtype +MONDO:0009824 primary hyperoxaluria type 2 01-disease-subtype +MONDO:0009825 5-oxoprolinase deficiency 01-disease-subtype +MONDO:0009830 parkinsonian-pyramidal syndrome 01-disease-subtype +MONDO:0009832 pancreatic agenesis 02-disease-root +MONDO:0009833 Shwachman-Diamond syndrome 02-disease-root +MONDO:0009838 Parana hard-skin syndrome 02-disease-root +MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome 01-disease-subtype +MONDO:0009841 PEHO syndrome 01-disease-subtype +MONDO:0009843 hypomyelinating leukodystrophy 3 02-disease-root +MONDO:0009844 pellagra-like syndrome 02-disease-root +MONDO:0009845 pelviscapular dysplasia 02-disease-root +MONDO:0009846 pentosuria 02-disease-root +MONDO:0009849 hyperimmunoglobulinemia D with periodic fever 01-disease-subtype +MONDO:0009852 hereditary intrinsic factor deficiency 01-disease-subtype +MONDO:0009853 Imerslund-Grasbeck syndrome 02-disease-root +MONDO:0009855 d-bifunctional protein deficiency 01-disease-subtype +MONDO:0009856 Peters plus syndrome 01-disease-subtype +MONDO:0009857 persistent Mullerian duct syndrome 01-disease-subtype +MONDO:0009858 Pfeiffer-Palm-Teller syndrome 02-disease-root +MONDO:0009859 PHAVER syndrome 02-disease-root +MONDO:0009861 phenylketonuria 01-disease-subtype +MONDO:0009862 dihydropteridine reductase deficiency 01-disease-subtype +MONDO:0009863 BH4-deficient hyperphenylalaninemia A 01-disease-subtype +MONDO:0009864 phosphoenolpyruvate carboxykinase deficiency, mitochondrial 01-disease-subtype +MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency 02-disease-root +MONDO:0009866 phosphoenolpyruvate carboxykinase deficiency, cytosolic 01-disease-subtype +MONDO:0009867 lethal congenital glycogen storage disease of heart 02-disease-root +MONDO:0009868 glycogen storage disease IXb 02-disease-root +MONDO:0009869 isolated Pierre-Robin syndrome 02-disease-root +MONDO:0009870 pili torti 01-disease-subtype +MONDO:0009871 pili torti-developmental delay-neurological abnormalities syndrome 01-disease-subtype +MONDO:0009872 Bjornstad syndrome 01-disease-subtype +MONDO:0009873 pilodental dysplasia-refractive errors syndrome 02-disease-root +MONDO:0009874 Rabson-Mendenhall syndrome 01-disease-subtype +MONDO:0009876 isolated growth hormone deficiency type IA 01-disease-subtype +MONDO:0009877 Laron syndrome 01-disease-subtype +MONDO:0009879 short stature due to growth hormone qualitative anomaly 01-disease-subtype +MONDO:0009880 short stature-pituitary and cerebellar defects-small sella turcica syndrome 01-disease-subtype +MONDO:0009883 alpha-2-plasmin inhibitor deficiency 02-disease-root +MONDO:0009885 Scott syndrome 01-disease-subtype +MONDO:0009889 autosomal recessive polycystic kidney disease 02-disease-root +MONDO:0009892 Chuvash polycythemia 01-disease-subtype +MONDO:0009894 short-rib thoracic dysplasia 6 with or without polydactyly 01-disease-subtype +MONDO:0009895 postaxial polydactyly-dental and vertebral anomalies syndrome 02-disease-root +MONDO:0009897 adult polyglucosan body disease 01-disease-subtype +MONDO:0009900 polysyndactyly-cardiac malformation syndrome 02-disease-root +MONDO:0009901 Bartsocas-Papas syndrome 01-disease-subtype +MONDO:0009902 cutaneous porphyria 01-disease-subtype +MONDO:0009903 postaxial acrofacial dysostosis 01-disease-subtype +MONDO:0009904 Gitelman syndrome 02-disease-root +MONDO:0009905 urban-Rogers-Meyer syndrome 02-disease-root +MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency 01-disease-subtype +MONDO:0009910 Wiedemann-Rautenstrauch syndrome 01-disease-subtype +MONDO:0009914 pseudodiastrophic dysplasia 02-disease-root +MONDO:0009915 46,XX disorder of sex development-skeletal anomalies syndrome 02-disease-root +MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency 01-disease-subtype +MONDO:0009917 autosomal recessive pseudohypoaldosteronism type 1 01-disease-subtype +MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency 01-disease-subtype +MONDO:0009920 Acrootoocular syndrome 02-disease-root +MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome 02-disease-root +MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency 01-disease-subtype +MONDO:0009924 vitamin D-dependent rickets, type 1 01-disease-subtype +MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum 01-disease-subtype +MONDO:0009926 autosomal recessive multiple pterygium syndrome 02-disease-root +MONDO:0009928 pulmonary alveolar microlithiasis 02-disease-root +MONDO:0009929 neonatal acute respiratory distress due to SP-B deficiency 01-disease-subtype +MONDO:0009933 congenital pulmonary lymphangiectasia 01-disease-subtype +MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins 01-disease-subtype +MONDO:0009936 familial primary pulmonary hypoplasia 01-disease-subtype +MONDO:0009937 pulmonary venoocclusive disease 02-disease-root +MONDO:0009940 pycnodysostosis 01-disease-subtype +MONDO:0009942 pyknoachondrogenesis 02-disease-root +MONDO:0009943 Pyle disease 02-disease-root +MONDO:0009945 pyridoxine-dependent epilepsy 01-disease-subtype +MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency 01-disease-subtype +MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria 01-disease-subtype +MONDO:0009948 pyropoikilocytosis, hereditary 02-disease-root +MONDO:0009950 pyruvate kinase deficiency of red cells 01-disease-subtype +MONDO:0009952 radioulnar synostosis-developmental delay-hypotonia syndrome 01-disease-subtype +MONDO:0009953 leukocyte adhesion deficiency type II 01-disease-subtype +MONDO:0009954 Ramon syndrome 02-disease-root +MONDO:0009955 rapadilino syndrome 02-disease-root +MONDO:0009958 adult Refsum disease 01-disease-subtype +MONDO:0009959 peroxisome biogenesis disorder type 3B 01-disease-subtype +MONDO:0009963 Ulbright-Hodes syndrome 02-disease-root +MONDO:0009964 short-rib thoracic dysplasia 9 with or without polydactyly 01-disease-subtype +MONDO:0009965 Perlman syndrome 01-disease-subtype +MONDO:0009966 NPHP3-related Meckel-like syndrome 01-disease-subtype +MONDO:0009968 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss 01-disease-subtype +MONDO:0009969 renal-genital-middle ear anomalies 02-disease-root +MONDO:0009970 renal tubular dysgenesis of genetic origin 01-disease-subtype +MONDO:0009973 reticular dysgenesis 01-disease-subtype +MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 01-disease-subtype +MONDO:0009977 Knobloch syndrome 02-disease-root +MONDO:0009978 retinal degeneration-nanophthalmos-glaucoma syndrome 02-disease-root +MONDO:0009979 reticular dystrophy of the retinal pigment epithelium 01-disease-subtype +MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome 02-disease-root +MONDO:0009985 retinohepatoendocrinologic syndrome 02-disease-root +MONDO:0009990 Revesz syndrome 01-disease-subtype +MONDO:0009996 rhizomelic syndrome, Urbach type 02-disease-root +MONDO:0009997 Roberts syndrome 01-disease-subtype +MONDO:0009998 Richieri Costa-Pereira syndrome 02-disease-root +MONDO:0009999 autosomal recessive Robinow syndrome 01-disease-subtype +MONDO:0010001 ectodermal dysplasia-blindness syndrome 02-disease-root +MONDO:0010002 Rothmund-Thomson syndrome 02-disease-root +MONDO:0010004 EEC syndrome 01-disease-subtype +MONDO:0010005 saccharopinuria 01-disease-subtype +MONDO:0010006 Sandhoff disease 02-disease-root +MONDO:0010007 microbrachycephaly-ptosis-cleft lip syndrome 02-disease-root +MONDO:0010008 sarcosinemia 01-disease-subtype +MONDO:0010010 Schinzel-Giedion syndrome 02-disease-root +MONDO:0010011 schizencephaly 02-disease-root +MONDO:0010013 schneckenbecken dysplasia 01-disease-subtype +MONDO:0010014 craniometadiaphyseal dysplasia, wormian bone type 02-disease-root +MONDO:0010015 anterior segment dysgenesis 7 01-disease-subtype +MONDO:0010017 sea-blue histiocyte syndrome 01-disease-subtype +MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency 02-disease-root +MONDO:0010024 Beemer-Langer syndrome 01-disease-subtype +MONDO:0010026 SHORT syndrome 01-disease-subtype +MONDO:0010027 free sialic acid storage disease, infantile form 01-disease-subtype +MONDO:0010028 sialuria 01-disease-subtype +MONDO:0010029 situs inversus 01-disease-subtype +MONDO:0010031 Sjogren-Larsson syndrome 01-disease-subtype +MONDO:0010033 generalized peeling skin syndrome 01-disease-subtype +MONDO:0010035 Smith-Lemli-Opitz syndrome 01-disease-subtype +MONDO:0010038 growth delay due to insulin-like growth factor I resistance 01-disease-subtype +MONDO:0010039 congenital heart defect-round face-developmental delay syndrome 02-disease-root +MONDO:0010041 Charlevoix-Saguenay spastic ataxia 01-disease-subtype +MONDO:0010043 hereditary spastic paraplegia 17 01-disease-subtype +MONDO:0010044 hereditary spastic paraplegia 15 02-disease-root +MONDO:0010046 hereditary spastic paraplegia 23 02-disease-root +MONDO:0010047 hereditary spastic paraplegia 5A 01-disease-subtype +MONDO:0010049 spastic paraplegia-glaucoma-intellectual disability syndrome 02-disease-root +MONDO:0010051 spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome 02-disease-root +MONDO:0010056 spinal muscular atrophy, type IV 01-disease-subtype +MONDO:0010060 infantile onset spinocerebellar ataxia 01-disease-subtype +MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome 01-disease-subtype +MONDO:0010062 spinocerebellar ataxia-dysmorphism syndrome 02-disease-root +MONDO:0010063 corneal-cerebellar syndrome 01-disease-subtype +MONDO:0010064 spastic ataxia-corneal dystrophy syndrome 01-disease-subtype +MONDO:0010066 familial isolated congenital asplenia 01-disease-subtype +MONDO:0010068 spondyloepimetaphyseal dysplasia, sponastrime type 01-disease-subtype +MONDO:0010069 spondylocostal dysostosis-anal and genitourinary malformations syndrome 01-disease-subtype +MONDO:0010070 brachyolmia type 1, Hobaek type 01-disease-subtype +MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type 01-disease-subtype +MONDO:0010074 brachyolmia type 1, toledo type 01-disease-subtype +MONDO:0010075 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 01-disease-subtype +MONDO:0010076 spondyloepimetaphyseal dysplasia, Irapa type 01-disease-subtype +MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome 01-disease-subtype +MONDO:0010078 spondyloperipheral dysplasia-short ulna syndrome 01-disease-subtype +MONDO:0010079 Canavan disease 02-disease-root +MONDO:0010080 familial infantile bilateral striatal necrosis 01-disease-subtype +MONDO:0010082 subaortic stenosis-short stature syndrome 01-disease-subtype +MONDO:0010083 succinic semialdehyde dehydrogenase deficiency 01-disease-subtype +MONDO:0010088 mucosulfatidosis 02-disease-root +MONDO:0010089 isolated sulfite oxidase deficiency 01-disease-subtype +MONDO:0010090 Summitt syndrome 02-disease-root +MONDO:0010091 Cold-induced sweating syndrome 1 01-disease-subtype +MONDO:0010092 Filippi syndrome 02-disease-root +MONDO:0010094 spondylocarpotarsal synostosis syndrome 02-disease-root +MONDO:0010095 ataxia-tapetoretinal degeneration syndrome 02-disease-root +MONDO:0010098 taurodontism 02-disease-root +MONDO:0010099 Tay-Sachs disease AB variant 02-disease-root +MONDO:0010100 Tay-Sachs disease 02-disease-root +MONDO:0010101 Teebi-Shaltout syndrome 02-disease-root +MONDO:0010102 taurodontia-absent teeth-sparse hair syndrome 02-disease-root +MONDO:0010104 non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome 02-disease-root +MONDO:0010110 tetraamelia-multiple malformations syndrome 02-disease-root +MONDO:0010111 odontotrichomelic syndrome 01-disease-subtype +MONDO:0010116 thoracomelic dysplasia 01-disease-subtype +MONDO:0010120 thrombocytopenia 3 01-disease-subtype +MONDO:0010121 thrombocytopenia-absent radius syndrome 02-disease-root +MONDO:0010122 congenital thrombotic thrombocytopenic purpura 01-disease-subtype +MONDO:0010123 absent thumb-short stature-immunodeficiency syndrome 02-disease-root +MONDO:0010125 upper limb defect-eye and ear abnormalities syndrome 02-disease-root +MONDO:0010127 thymoma, familial 01-disease-subtype +MONDO:0010128 thyrocerebrorenal syndrome 02-disease-root +MONDO:0010129 thymic-renal-anal-lung dysplasia 02-disease-root +MONDO:0010130 dihydropyrimidine dehydrogenase deficiency 01-disease-subtype +MONDO:0010132 familial thyroid dyshormonogenesis 01-disease-subtype +MONDO:0010134 Pendred syndrome 01-disease-subtype +MONDO:0010139 isolated thyroid-stimulating hormone deficiency 01-disease-subtype +MONDO:0010140 isolated thyrotropin-releasing hormone deficiency 01-disease-subtype +MONDO:0010142 hypothyroidism due to TSH receptor mutations 01-disease-subtype +MONDO:0010143 lethal restrictive dermopathy 02-disease-root +MONDO:0010144 tibial hemimelia 01-disease-subtype +MONDO:0010149 transcobalamin II deficiency 01-disease-subtype +MONDO:0010152 trichomegaly-retina pigmentary degeneration-dwarfism syndrome 02-disease-root +MONDO:0010153 trichoodontoonychial dysplasia 02-disease-root +MONDO:0010154 trigonocephaly-bifid nose-acral anomalies syndrome 02-disease-root +MONDO:0010155 Dorfman-Chanarin disease 01-disease-subtype +MONDO:0010156 Troyer syndrome 02-disease-root +MONDO:0010159 mismatch repair cancer syndrome 1 01-disease-subtype +MONDO:0010160 tyrosinemia type II 01-disease-subtype +MONDO:0010161 tyrosinemia type I 01-disease-subtype +MONDO:0010162 tyrosinemia type III 01-disease-subtype +MONDO:0010164 phocomelia, Schinzel type 02-disease-root +MONDO:0010165 ulna hypoplasia-intellectual disability syndrome 02-disease-root +MONDO:0010167 urocanic aciduria 01-disease-subtype +MONDO:0010168 Usher syndrome type 1 01-disease-subtype +MONDO:0010169 Usher syndrome type 2A 01-disease-subtype +MONDO:0010171 Usher syndrome type 1C 01-disease-subtype +MONDO:0010172 VACTERL with hydrocephalus 02-disease-root +MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 01-disease-subtype +MONDO:0010176 orofaciodigital syndrome type 6 01-disease-subtype +MONDO:0010178 congenital bilateral aplasia of vas deferens from CFTR mutation 01-disease-subtype +MONDO:0010180 autosomal recessive spondylocostal dysostosis 01-disease-subtype +MONDO:0010181 oculogastrointestinal muscular dystrophy 02-disease-root +MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF 01-disease-subtype +MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC 01-disease-subtype +MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD 01-disease-subtype +MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 01-disease-subtype +MONDO:0010188 familial isolated deficiency of vitamin E 01-disease-subtype +MONDO:0010191 von Willebrand disease 3 01-disease-subtype +MONDO:0010193 Weaver syndrome 01-disease-subtype +MONDO:0010196 Werner syndrome 02-disease-root +MONDO:0010199 white forelock with malformations 02-disease-root +MONDO:0010200 Wilson disease 02-disease-root +MONDO:0010203 intellectual disability, Wolff type 02-disease-root +MONDO:0010204 lysosomal acid lipase deficiency 02-disease-root +MONDO:0010207 woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome 02-disease-root +MONDO:0010208 wrinkly skin syndrome 01-disease-subtype +MONDO:0010209 xanthinuria type I 01-disease-subtype +MONDO:0010210 xeroderma pigmentosum group A 01-disease-subtype +MONDO:0010211 xeroderma pigmentosum group C 01-disease-subtype +MONDO:0010212 xeroderma pigmentosum group D 01-disease-subtype +MONDO:0010213 xeroderma pigmentosum group E 01-disease-subtype +MONDO:0010214 xeroderma pigmentosum variant type 01-disease-subtype +MONDO:0010215 xeroderma pigmentosum group F 01-disease-subtype +MONDO:0010216 xeroderma pigmentosum group G 01-disease-subtype +MONDO:0010217 de Sanctis-Cacchione syndrome 02-disease-root +MONDO:0010220 Young syndrome 02-disease-root +MONDO:0010221 CHIME syndrome 01-disease-subtype +MONDO:0010222 X-linked Opitz G/BBB syndrome 01-disease-subtype +MONDO:0010224 corpus callosum agenesis-abnormal genitalia syndrome 01-disease-subtype +MONDO:0010225 Dent disease type 1 01-disease-subtype +MONDO:0010233 heterotopia, periventricular, X-linked dominant 01-disease-subtype +MONDO:0010235 X-linked intellectual disability-psychosis-macroorchidism syndrome 02-disease-root +MONDO:0010237 X-linked intellectual disability-plagiocephaly syndrome 02-disease-root +MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation 01-disease-subtype +MONDO:0010243 X-linked immunoneurologic disorder 02-disease-root +MONDO:0010246 developmental and epileptic encephalopathy, 9 01-disease-subtype +MONDO:0010247 X-linked cerebral adrenoleukodystrophy 01-disease-subtype +MONDO:0010248 X-linked spondyloepimetaphyseal dysplasia 01-disease-subtype +MONDO:0010256 intellectual disability, X-linked 21 01-disease-subtype +MONDO:0010258 MEHMO syndrome 02-disease-root +MONDO:0010261 microphthalmia, syndromic 2 01-disease-subtype +MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome 01-disease-subtype +MONDO:0010264 X-linked adrenal hypoplasia congenita 01-disease-subtype +MONDO:0010265 Simpson-Golabi-Behmel syndrome type 2 01-disease-subtype +MONDO:0010266 intellectual disability, X-linked 58 01-disease-subtype +MONDO:0010268 X-linked lissencephaly with abnormal genitalia 01-disease-subtype +MONDO:0010269 Coats disease 01-disease-subtype +MONDO:0010270 syndromic X-linked intellectual disability 7 02-disease-root +MONDO:0010275 spondyloepimetaphyseal dysplasia, Bieganski type 01-disease-subtype +MONDO:0010277 syndromic X-linked intellectual disability Shashi type 02-disease-root +MONDO:0010278 Christianson syndrome 01-disease-subtype +MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome 01-disease-subtype +MONDO:0010283 syndromic X-linked intellectual disability Lubs type 01-disease-subtype +MONDO:0010284 Armfield syndrome 02-disease-root +MONDO:0010285 syndromic X-linked intellectual disability Abidi type 02-disease-root +MONDO:0010286 syndromic X-linked intellectual disability Siderius type 02-disease-root +MONDO:0010287 hereditary spastic paraplegia 16 01-disease-subtype +MONDO:0010288 adrenomyodystrophy 02-disease-root +MONDO:0010292 Uruguay Faciocardiomusculoskeletal syndrome 02-disease-root +MONDO:0010293 ectodermal dysplasia and immune deficiency 02-disease-root +MONDO:0010294 X-linked severe congenital neutropenia 01-disease-subtype +MONDO:0010295 anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome 01-disease-subtype +MONDO:0010298 Lesch-Nyhan syndrome 01-disease-subtype +MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency 01-disease-subtype +MONDO:0010302 Ito hypomelanosis 02-disease-root +MONDO:0010305 creatine transporter deficiency 02-disease-root +MONDO:0010306 X-linked intellectual disability, Cabezas type 02-disease-root +MONDO:0010308 thrombocytopenia, X-linked, with or without dyserythropoietic anemia 01-disease-subtype +MONDO:0010310 osteopathia striata with cranial sclerosis 01-disease-subtype +MONDO:0010311 Becker muscular dystrophy 01-disease-subtype +MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related 01-disease-subtype +MONDO:0010318 FG syndrome 4 01-disease-subtype +MONDO:0010319 syndromic X-linked intellectual disability Hedera type 01-disease-subtype +MONDO:0010323 Atkin-Flaitz syndrome 02-disease-root +MONDO:0010325 X-linked intellectual disability, Stocco dos Santos type 02-disease-root +MONDO:0010327 HSD10 mitochondrial disease 02-disease-root +MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome 01-disease-subtype +MONDO:0010332 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome 02-disease-root +MONDO:0010333 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 02-disease-root +MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome 01-disease-subtype +MONDO:0010336 orofaciodigital syndrome VIII 01-disease-subtype +MONDO:0010337 X-linked intellectual disability-cerebellar hypoplasia syndrome 02-disease-root +MONDO:0010338 X-linked distal spinal muscular atrophy type 3 01-disease-subtype +MONDO:0010339 X-linked epilepsy-learning disabilities-behavior disorders syndrome 01-disease-subtype +MONDO:0010353 deafness-intellectual disability, Martin-Probst type syndrome 01-disease-subtype +MONDO:0010354 Allan-Herndon-Dudley syndrome 01-disease-subtype +MONDO:0010355 syndromic X-linked intellectual disability Claes-Jensen type 02-disease-root +MONDO:0010356 nephrogenic syndrome of inappropriate antidiuresis 02-disease-root +MONDO:0010359 Dent disease type 2 01-disease-subtype +MONDO:0010362 glycogen storage disease IXd 02-disease-root +MONDO:0010364 X-linked intellectual disability-retinitis pigmentosa syndrome 01-disease-subtype +MONDO:0010367 SHOX-related short stature 02-disease-root +MONDO:0010371 Aland island eye disease 02-disease-root +MONDO:0010375 developmental and epileptic encephalopathy, 8 01-disease-subtype +MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with hearing loss 01-disease-subtype +MONDO:0010379 Brunner syndrome 01-disease-subtype +MONDO:0010382 fragile X-associated tremor/ataxia syndrome 01-disease-subtype +MONDO:0010383 fragile X syndrome 01-disease-subtype +MONDO:0010386 immunodeficiency 33 02-disease-root +MONDO:0010390 ocular albinism with late-onset sensorineural deafness 01-disease-subtype +MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency 01-disease-subtype +MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity 01-disease-subtype +MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly 01-disease-subtype +MONDO:0010399 chromosome Xp21 deletion syndrome 01-disease-subtype +MONDO:0010401 X-linked myopathy with postural muscle atrophy 01-disease-subtype +MONDO:0010403 albinism-hearing loss syndrome 02-disease-root +MONDO:0010404 X-linked non progressive cerebellar ataxia 01-disease-subtype +MONDO:0010407 intellectual disability, X-linked syndromic, Turner type 02-disease-root +MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome 02-disease-root +MONDO:0010409 syndromic X-linked intellectual disability Shrimpton type 02-disease-root +MONDO:0010412 X-linked intellectual disability-craniofacioskeletal syndrome 02-disease-root +MONDO:0010417 syndromic X-linked intellectual disability Najm type 02-disease-root +MONDO:0010418 hereditary spastic paraplegia 34 01-disease-subtype +MONDO:0010421 Bruton-type agammaglobulinemia 01-disease-subtype +MONDO:0010425 Lisch epithelial corneal dystrophy 01-disease-subtype +MONDO:0010426 X-linked endothelial corneal dystrophy 01-disease-subtype +MONDO:0010427 syndromic X-linked intellectual disability Raymond type 02-disease-root +MONDO:0010428 chromosome Xp11.23-p11.22 duplication syndrome 01-disease-subtype +MONDO:0010432 thrombophilia, X-linked, due to factor 9 defect 01-disease-subtype +MONDO:0010435 nystagmus 6, congenital, X-linked 01-disease-subtype +MONDO:0010436 chromosome Xq28 duplication syndrome 01-disease-subtype +MONDO:0010437 severe X-linked mitochondrial encephalomyopathy 02-disease-root +MONDO:0010441 CK syndrome 02-disease-root +MONDO:0010444 X-linked dyserythropoetic anemia with abnormal platelets and neutropenia 01-disease-subtype +MONDO:0010446 X-linked cone dysfunction syndrome with myopia 02-disease-root +MONDO:0010448 moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome 01-disease-subtype +MONDO:0010455 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia 02-disease-root +MONDO:0010457 Ogden syndrome 01-disease-subtype +MONDO:0010459 amyotrophic lateral sclerosis type 15 01-disease-subtype +MONDO:0010460 syndromic X-linked intellectual disability 17 02-disease-root +MONDO:0010461 syndromic X-linked intellectual disability Nascimento type 02-disease-root +MONDO:0010463 X-linked dominant chondrodysplasia, Chassaing-Lacombe type 02-disease-root +MONDO:0010464 X-linked cerebral-cerebellar-coloboma syndrome syndrome 02-disease-root +MONDO:0010466 multiple congenital anomalies-hypotonia-seizures syndrome 2 01-disease-subtype +MONDO:0010467 Xq27.3q28 duplication syndrome 01-disease-subtype +MONDO:0010472 developmental and epileptic encephalopathy, 36 01-disease-subtype +MONDO:0010473 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome 02-disease-root +MONDO:0010475 X-linked central congenital hypothyroidism with late-onset testicular enlargement 01-disease-subtype +MONDO:0010476 neurodegeneration with brain iron accumulation 5 01-disease-subtype +MONDO:0010477 blepharophimosis - intellectual disability syndrome, MKB type 01-disease-subtype +MONDO:0010478 SLC35A2-CDG 01-disease-subtype +MONDO:0010479 Charcot-Marie-Tooth disease X-linked dominant 6 01-disease-subtype +MONDO:0010482 X-linked parkinsonism-spasticity syndrome 01-disease-subtype +MONDO:0010483 X-linked intellectual disability, Cantagrel type 02-disease-root +MONDO:0010490 SSR4-CDG 01-disease-subtype +MONDO:0010498 MEND syndrome 01-disease-subtype +MONDO:0010504 immunodeficiency 47 02-disease-root +MONDO:0010505 intellectual disability-balding-patella luxation-acromicria syndrome 01-disease-subtype +MONDO:0010518 Wiskott-Aldrich syndrome 02-disease-root +MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome 01-disease-subtype +MONDO:0010520 X-linked Alport syndrome 01-disease-subtype +MONDO:0010523 X-linked reticulate pigmentary disorder 01-disease-subtype +MONDO:0010524 X-linked sideroblastic anemia with ataxia 01-disease-subtype +MONDO:0010526 Fabry disease 02-disease-root +MONDO:0010529 X-linked spinocerebellar ataxia type 3 01-disease-subtype +MONDO:0010531 contractures-ectodermal dysplasia-cleft lip/palate syndrome 02-disease-root +MONDO:0010532 infantile-onset X-linked spinal muscular atrophy 01-disease-subtype +MONDO:0010533 Arts syndrome 01-disease-subtype +MONDO:0010534 X-linked spinocerebellar ataxia type 4 01-disease-subtype +MONDO:0010535 Bazex-Dupre-Christol syndrome 02-disease-root +MONDO:0010537 Borjeson-Forssman-Lehmann syndrome 02-disease-root +MONDO:0010538 Mononen-Karnes-Senac syndrome 02-disease-root +MONDO:0010539 X-linked mandibulofacial dysostosis 01-disease-subtype +MONDO:0010540 bullous dystrophy, macular type 02-disease-root +MONDO:0010541 X-linked calvarial hyperostosis 02-disease-root +MONDO:0010542 dilated cardiomyopathy 3B 01-disease-subtype +MONDO:0010543 Barth syndrome 01-disease-subtype +MONDO:0010545 Nance-Horan syndrome 01-disease-subtype +MONDO:0010547 X-linked progressive cerebellar ataxia 01-disease-subtype +MONDO:0010549 Charcot-Marie-Tooth disease X-linked dominant 1 01-disease-subtype +MONDO:0010550 Charcot-Marie-Tooth disease X-linked recessive 2 01-disease-subtype +MONDO:0010551 Charcot-Marie-Tooth disease X-linked recessive 3 01-disease-subtype +MONDO:0010554 Abruzzo-Erickson syndrome 02-disease-root +MONDO:0010555 X-linked chondrodysplasia punctata 1 01-disease-subtype +MONDO:0010556 X-linked chondrodysplasia punctata 01-disease-subtype +MONDO:0010557 choroideremia 02-disease-root +MONDO:0010558 choroideremia-deafness-obesity syndrome 02-disease-root +MONDO:0010559 MASA syndrome 01-disease-subtype +MONDO:0010560 cleft palate with or without ankyloglossia, X-linked 01-disease-subtype +MONDO:0010561 Coffin-Lowry syndrome 01-disease-subtype +MONDO:0010562 colonic atresia 01-disease-subtype +MONDO:0010563 blue cone monochromacy 01-disease-subtype +MONDO:0010568 Aicardi syndrome 02-disease-root +MONDO:0010569 X-linked complicated corpus callosum dysgenesis 01-disease-subtype +MONDO:0010570 craniofrontonasal syndrome 01-disease-subtype +MONDO:0010571 otopalatodigital syndrome type 2 01-disease-subtype +MONDO:0010572 occipital horn syndrome 01-disease-subtype +MONDO:0010574 syndromic X-linked intellectual disability 5 02-disease-root +MONDO:0010575 deafness-hypogonadism syndrome 02-disease-root +MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher 01-disease-subtype +MONDO:0010578 deafness dystonia syndrome 01-disease-subtype +MONDO:0010579 X-linked corneal dermoid 01-disease-subtype +MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome 01-disease-subtype +MONDO:0010584 dyskeratosis congenita, X-linked 01-disease-subtype +MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia 01-disease-subtype +MONDO:0010586 X-linked Ehlers-Danlos syndrome 01-disease-subtype +MONDO:0010589 Aarskog-Scott syndrome, X-linked 01-disease-subtype +MONDO:0010591 fingerprint body myopathy 01-disease-subtype +MONDO:0010592 focal dermal hypoplasia 02-disease-root +MONDO:0010602 hemophilia A 01-disease-subtype +MONDO:0010604 hemophilia B 01-disease-subtype +MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius 01-disease-subtype +MONDO:0010612 hydrocephaly-cerebellar agenesis syndrome 02-disease-root +MONDO:0010613 inborn glycerol kinase deficiency 01-disease-subtype +MONDO:0010614 X-linked congenital generalized hypertrichosis 01-disease-subtype +MONDO:0010615 isolated growth hormone deficiency type III 01-disease-subtype +MONDO:0010617 male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome 02-disease-root +MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland 01-disease-subtype +MONDO:0010619 X-linked dominant hypophosphatemic rickets 01-disease-subtype +MONDO:0010621 CHILD syndrome 01-disease-subtype +MONDO:0010622 recessive X-linked ichthyosis 01-disease-subtype +MONDO:0010626 hyper-IgM syndrome type 1 01-disease-subtype +MONDO:0010627 X-linked lymphoproliferative syndrome 01-disease-subtype +MONDO:0010631 incontinentia pigmenti 01-disease-subtype +MONDO:0010632 developmental and epileptic encephalopathy, 1 01-disease-subtype +MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia 01-disease-subtype +MONDO:0010638 keratosis follicularis-dwarfism-cerebral atrophy syndrome 02-disease-root +MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome 02-disease-root +MONDO:0010641 X-linked diffuse leiomyomatosis-Alport syndrome 01-disease-subtype +MONDO:0010645 oculocerebrorenal syndrome 01-disease-subtype +MONDO:0010649 isolated congenital megalocornea 01-disease-subtype +MONDO:0010650 Melnick-Needles syndrome 01-disease-subtype +MONDO:0010651 Menkes disease 01-disease-subtype +MONDO:0010652 X-linked intellectual disability-seizures-psoriasis syndrome 02-disease-root +MONDO:0010653 Renpenning syndrome 02-disease-root +MONDO:0010654 Partington syndrome 02-disease-root +MONDO:0010655 X-linked intellectual disability with marfanoid habitus 01-disease-subtype +MONDO:0010657 methylmalonic acidemia with homocystinuria, type cblX 01-disease-subtype +MONDO:0010658 syndromic X-linked intellectual disability 12 02-disease-root +MONDO:0010659 FRAXE intellectual disability 02-disease-root +MONDO:0010661 severe X-linked intellectual disability, Gustavson type 02-disease-root +MONDO:0010662 paraplegia-intellectual disability-hyperkeratosis syndrome 02-disease-root +MONDO:0010663 X-linked intellectual disability-hypotonic face syndrome 02-disease-root +MONDO:0010664 syndromic X-linked intellectual disability Snyder type 02-disease-root +MONDO:0010665 Wilson-Turner syndrome 02-disease-root +MONDO:0010667 Prieto syndrome 02-disease-root +MONDO:0010668 skeletal dysplasia-intellectual disability syndrome 02-disease-root +MONDO:0010669 syndactyly type 8 01-disease-subtype +MONDO:0010670 X-linked intellectual disability-spastic quadriparesis syndrome 02-disease-root +MONDO:0010672 linear skin defects with multiple congenital anomalies 02-disease-root +MONDO:0010674 mucopolysaccharidosis type 2 01-disease-subtype +MONDO:0010679 Duchenne muscular dystrophy 01-disease-subtype +MONDO:0010680 X-linked Emery-Dreifuss muscular dystrophy 01-disease-subtype +MONDO:0010683 X-linked centronuclear myopathy 01-disease-subtype +MONDO:0010684 X-linked myopathy with excessive autophagy 01-disease-subtype +MONDO:0010686 N syndrome 02-disease-root +MONDO:0010689 Charcot-Marie-Tooth disease X-linked recessive 4 01-disease-subtype +MONDO:0010691 Norrie disease 01-disease-subtype +MONDO:0010698 optic atrophy 2 01-disease-subtype +MONDO:0010699 Charcot-Marie-Tooth disease X-linked recessive 5 01-disease-subtype +MONDO:0010702 orofaciodigital syndrome I 01-disease-subtype +MONDO:0010704 otopalatodigital syndrome type 1 01-disease-subtype +MONDO:0010708 Pallister-W syndrome 01-disease-subtype +MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome 02-disease-root +MONDO:0010710 Pierre Robin syndrome-faciodigital anomaly syndrome 02-disease-root +MONDO:0010711 TARP syndrome 01-disease-subtype +MONDO:0010713 properdin deficiency, X-linked 02-disease-root +MONDO:0010714 Pelizaeus-Merzbacher disease 02-disease-root +MONDO:0010716 X-linked lethal multiple pterygium syndrome 01-disease-subtype +MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency 01-disease-subtype +MONDO:0010718 absent radius-anogenital anomalies syndrome 02-disease-root +MONDO:0010720 partial androgen insensitivity syndrome 01-disease-subtype +MONDO:0010722 X-linked retinal dysplasia 02-disease-root +MONDO:0010725 X-linked retinoschisis 01-disease-subtype +MONDO:0010726 Rett syndrome 02-disease-root +MONDO:0010728 SCARF syndrome 02-disease-root +MONDO:0010729 X-linked intellectual disability, Schimke type 02-disease-root +MONDO:0010731 Simpson-Golabi-Behmel syndrome 01-disease-subtype +MONDO:0010732 spastic paraparesis-deafness syndrome 02-disease-root +MONDO:0010733 hereditary spastic paraplegia 2 01-disease-subtype +MONDO:0010735 Kennedy disease 01-disease-subtype +MONDO:0010738 spondylometaphyseal dysplasia, Golden type 02-disease-root +MONDO:0010742 pentalogy of Cantrell 02-disease-root +MONDO:0010743 thrombocytopenia 1 01-disease-subtype +MONDO:0010745 beta-thalassemia-X-linked thrombocytopenia syndrome 01-disease-subtype +MONDO:0010747 X-linked dystonia-parkinsonism 01-disease-subtype +MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome 02-disease-root +MONDO:0010749 trigonocephaly-short stature-developmental delay syndrome 02-disease-root +MONDO:0010750 ulnar hypoplasia-split foot syndrome 02-disease-root +MONDO:0010752 VACTERL association, X-linked, with or without hydrocephalus 01-disease-subtype +MONDO:0010753 cardiac valvular dysplasia, X-linked 01-disease-subtype +MONDO:0010754 van den Bosch syndrome 01-disease-subtype +MONDO:0010758 Wieacker-Wolff syndrome 01-disease-subtype +MONDO:0010759 Wildervanck syndrome 02-disease-root +MONDO:0010765 46,XY complete gonadal dysgenesis 02-disease-root +MONDO:0010771 histiocytoid cardiomyopathy 02-disease-root +MONDO:0010773 myopathy and diabetes mellitus 01-disease-subtype +MONDO:0010779 mitochondrial non-syndromic sensorineural hearing loss 01-disease-subtype +MONDO:0010780 mitochondrial myopathy with reversible cytochrome C oxidase deficiency 02-disease-root +MONDO:0010785 maternally-inherited diabetes and deafness 01-disease-subtype +MONDO:0010786 chronic diarrhea with villous atrophy 02-disease-root +MONDO:0010787 Kearns-Sayre syndrome 01-disease-subtype +MONDO:0010788 Leber hereditary optic neuropathy 02-disease-root +MONDO:0010789 MELAS syndrome 01-disease-subtype +MONDO:0010790 MERRF syndrome 01-disease-subtype +MONDO:0010792 lethal infantile mitochondrial myopathy 02-disease-root +MONDO:0010794 NARP syndrome 01-disease-subtype +MONDO:0010795 oncocytic neoplasm 03-disease-area +MONDO:0010796 Parkinson disease, mitochondrial 01-disease-subtype +MONDO:0010797 Pearson syndrome 02-disease-root +MONDO:0010798 proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome 02-disease-root +MONDO:0010799 deafness, aminoglycoside-induced 02-disease-root +MONDO:0010801 spondylocamptodactyly syndrome 02-disease-root +MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome 01-disease-subtype +MONDO:0010803 Eiken syndrome 01-disease-subtype +MONDO:0010805 bladder exstrophy 01-disease-subtype +MONDO:0010808 fatal familial insomnia 01-disease-subtype +MONDO:0010813 pancreatic beta cell agenesis with neonatal diabetes mellitus 02-disease-root +MONDO:0010814 chondrodysplasia-pseudohermaphroditism syndrome 01-disease-subtype +MONDO:0010816 Qazi Markouizos syndrome 02-disease-root +MONDO:0010817 autosomal dominant nonsyndromic hearing loss 2A 01-disease-subtype +MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 01-disease-subtype +MONDO:0010824 disorder of sex development-intellectual disability syndrome 01-disease-subtype +MONDO:0010825 atrioventricular defect-blepharophimosis-radial and anal defect syndrome 02-disease-root +MONDO:0010826 childhood absence epilepsy 02-disease-root +MONDO:0010829 CARASIL syndrome 01-disease-subtype +MONDO:0010830 neuronal ceroid lipofuscinosis 8 01-disease-subtype +MONDO:0010831 familial caudal dysgenesis 01-disease-subtype +MONDO:0010835 pterygium colli-intellectual disability-digital anomalies syndrome 02-disease-root +MONDO:0010839 autosomal dominant congenital benign spinal muscular atrophy 01-disease-subtype +MONDO:0010840 pachygyria-intellectual disability-epilepsy syndrome 02-disease-root +MONDO:0010842 multiple cutaneous and mucosal venous malformations 02-disease-root +MONDO:0010847 spinocerebellar ataxia type 4 01-disease-subtype +MONDO:0010848 spinocerebellar ataxia type 5 01-disease-subtype +MONDO:0010850 Tessier number 4 facial cleft 01-disease-subtype +MONDO:0010851 Lowry-MacLean syndrome 02-disease-root +MONDO:0010854 Toriello-Lacassie-Droste syndrome 02-disease-root +MONDO:0010855 short tarsus-absence of lower eyelashes syndrome 02-disease-root +MONDO:0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis 01-disease-subtype +MONDO:0010857 semantic dementia 01-disease-subtype +MONDO:0010858 macrocephaly-spastic paraplegia-dysmorphism syndrome 01-disease-subtype +MONDO:0010865 pseudoaminopterin syndrome 02-disease-root +MONDO:0010866 infantile osteopetrosis with neuroaxonal dysplasia 01-disease-subtype +MONDO:0010867 PARC syndrome 02-disease-root +MONDO:0010870 tibial muscular dystrophy 01-disease-subtype +MONDO:0010876 recessive aplasia cutis congenita of limbs 02-disease-root +MONDO:0010877 Charcot-Marie-Tooth disease type 5 01-disease-subtype +MONDO:0010878 hereditary spastic paraplegia 6 01-disease-subtype +MONDO:0010879 CODAS syndrome 01-disease-subtype +MONDO:0010881 mesomelia-synostoses syndrome 01-disease-subtype +MONDO:0010882 aphalangy-syndactyly-microcephaly syndrome 02-disease-root +MONDO:0010885 angiokeratoma corporis diffusum with arteriovenous fistulas 02-disease-root +MONDO:0010886 2q37 microdeletion syndrome 01-disease-subtype +MONDO:0010887 isolated anterior cervical hypertrichosis 01-disease-subtype +MONDO:0010888 endometriosis of uterus 01-disease-subtype +MONDO:0010890 acrocardiofacial syndrome 02-disease-root +MONDO:0010891 lethal hemolytic anemia-genital anomalies syndrome 01-disease-subtype +MONDO:0010895 ABCD syndrome 02-disease-root +MONDO:0010896 pigment dispersion syndrome 02-disease-root +MONDO:0010898 Autosomal dominant epilepsy with auditory features 01-disease-subtype +MONDO:0010902 spondyloepiphyseal dysplasia, Reardon type 01-disease-subtype +MONDO:0010907 familial hypertryptophanemia 01-disease-subtype +MONDO:0010908 loose anagen syndrome 02-disease-root +MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form 01-disease-subtype +MONDO:0010916 polycystic kidney disease 3 with or without polycystic liver disease 01-disease-subtype +MONDO:0010920 microtia 02-disease-root +MONDO:0010924 D-2-hydroxyglutaric aciduria 02-disease-root +MONDO:0010925 velo-facial-skeletal syndrome 02-disease-root +MONDO:0010926 familial hypocalciuric hypercalcemia 3 01-disease-subtype +MONDO:0010930 anophthalmia plus syndrome 02-disease-root +MONDO:0010932 progressive bifocal chorioretinal atrophy 02-disease-root +MONDO:0010933 autosomal recessive nonsyndromic hearing loss 4 01-disease-subtype +MONDO:0010938 T-B+ severe combined immunodeficiency due to JAK3 deficiency 01-disease-subtype +MONDO:0010939 low phospholipid associated cholelithiasis 01-disease-subtype +MONDO:0010940 inherited susceptibility to asthma 02-disease-root +MONDO:0010949 Charcot-Marie-Tooth disease type 2B 01-disease-subtype +MONDO:0010952 hereditary hyperferritinemia with congenital cataracts 01-disease-subtype +MONDO:0010953 Fanconi anemia complementation group E 01-disease-subtype +MONDO:0010959 van den Ende-Gupta syndrome 01-disease-subtype +MONDO:0010961 obesity due to prohormone convertase I deficiency 01-disease-subtype +MONDO:0010966 achondrogenesis type IB 01-disease-subtype +MONDO:0010967 autosomal recessive nonsyndromic hearing loss 7 01-disease-subtype +MONDO:0010971 infundibulopelvic stenosis-multicystic kidney syndrome 02-disease-root +MONDO:0010972 hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome 02-disease-root +MONDO:0010976 epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive 01-disease-subtype +MONDO:0010977 Brody myopathy 01-disease-subtype +MONDO:0010979 Timothy syndrome 01-disease-subtype +MONDO:0010981 absent tibia-polydactyly-arachnoid cyst syndrome 02-disease-root +MONDO:0010983 dystonia 9 01-disease-subtype +MONDO:0010986 autosomal recessive nonsyndromic hearing loss 9 01-disease-subtype +MONDO:0010988 aplasia cutis-myopia syndrome 01-disease-subtype +MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 01-disease-subtype +MONDO:0010993 Harrod syndrome 02-disease-root +MONDO:0010995 Charcot-Marie-Tooth disease type 1C 01-disease-subtype +MONDO:0010997 supranuclear palsy, progressive, 1 01-disease-subtype +MONDO:0010998 ALG3-CDG 01-disease-subtype +MONDO:0010999 fallot complex-intellectual disability-growth delay syndrome 02-disease-root +MONDO:0011004 lissencephaly type 3-metacarpal bone dysplasia syndrome 02-disease-root +MONDO:0011007 diaphragmatic defect-limb deficiency-skull defect syndrome 02-disease-root +MONDO:0011008 cleft lip/palate-intestinal malrotation-cardiopathy syndrome 02-disease-root +MONDO:0011010 Matthew-Wood syndrome 01-disease-subtype +MONDO:0011011 skeletal dysplasia-epilepsy-short stature syndrome 02-disease-root +MONDO:0011012 African iron overload 01-disease-subtype +MONDO:0011013 autosomal dominant hypocalcemia 1 01-disease-subtype +MONDO:0011014 pleuropulmonary blastoma 01-disease-subtype +MONDO:0011017 Naxos disease 01-disease-subtype +MONDO:0011018 brachyolmia-amelogenesis imperfecta syndrome 02-disease-root +MONDO:0011019 alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome 02-disease-root +MONDO:0011020 osteoporosis-oculocutaneous hypopigmentation syndrome 02-disease-root +MONDO:0011022 Potocki-Shaffer syndrome 01-disease-subtype +MONDO:0011023 hereditary mixed polyposis syndrome 02-disease-root +MONDO:0011024 dermatitis herpetiformis, familial 01-disease-subtype +MONDO:0011025 Cayman type cerebellar ataxia 01-disease-subtype +MONDO:0011026 autosomal recessive congenital ichthyosis 4A 01-disease-subtype +MONDO:0011028 autosomal recessive limb-girdle muscular dystrophy type 2F 01-disease-subtype +MONDO:0011034 odontomicronychial dysplasia 01-disease-subtype +MONDO:0011035 neurofibromatosis-Noonan syndrome 01-disease-subtype +MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome 01-disease-subtype +MONDO:0011041 ectodermal dysplasia with natal teeth, Turnpenny type 02-disease-root +MONDO:0011045 MMEP syndrome 01-disease-subtype +MONDO:0011046 short stature, Brussels type 02-disease-root +MONDO:0011047 deafness-epiphyseal dysplasia-short stature syndrome 02-disease-root +MONDO:0011048 epilepsy-microcephaly-skeletal dysplasia syndrome 02-disease-root +MONDO:0011049 fine-Lubinsky syndrome 01-disease-subtype +MONDO:0011050 microcephaly-cardiac defect-lung malsegmentation syndrome 02-disease-root +MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome 01-disease-subtype +MONDO:0011054 autosomal recessive amelia 02-disease-root +MONDO:0011055 distal monosomy 10p 01-disease-subtype +MONDO:0011059 holoprosencephaly-craniosynostosis syndrome 02-disease-root +MONDO:0011060 early-onset non-syndromic cataract 01-disease-subtype +MONDO:0011062 aprosencephaly cerebellar dysgenesis 02-disease-root +MONDO:0011063 hidrotic ectodermal dysplasia, Christianson-Fourie type 02-disease-root +MONDO:0011064 lethal chondrodysplasia, Seller type 02-disease-root +MONDO:0011065 Hunter-McAlpine craniosynostosis 02-disease-root +MONDO:0011066 Charcot-Marie-Tooth disease type 4B1 01-disease-subtype +MONDO:0011071 hereditary thrombocytopenia and hematologic cancer predisposition syndrome 01-disease-subtype +MONDO:0011074 autosomal dominant nonsyndromic hearing loss 7 01-disease-subtype +MONDO:0011076 myofibrillar myopathy 1 01-disease-subtype +MONDO:0011079 rhizomelic dysplasia, Patterson-Lowry type 02-disease-root +MONDO:0011080 progressive deafness with stapes fixation 02-disease-root +MONDO:0011081 dislocation of the hip-dysmorphism syndrome 02-disease-root +MONDO:0011082 oculoauriculofrontonasal syndrome 01-disease-subtype +MONDO:0011083 trichodental syndrome 01-disease-subtype +MONDO:0011085 Charcot-Marie-Tooth disease type 4D 01-disease-subtype +MONDO:0011086 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 01-disease-subtype +MONDO:0011090 isolated hereditary congenital facial paralysis 02-disease-root +MONDO:0011091 Charcot-Marie-Tooth disease type 2D 01-disease-subtype +MONDO:0011093 mucopolysaccharidosis type 9 01-disease-subtype +MONDO:0011096 autosomal agammaglobulinemia 01-disease-subtype +MONDO:0011099 human HOXA1 syndromes 02-disease-root +MONDO:0011101 peroxisome biogenesis disorder 1B 01-disease-subtype +MONDO:0011106 facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome 02-disease-root +MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy 01-disease-subtype +MONDO:0011108 Stüve-Wiedemann syndrome 01-disease-subtype +MONDO:0011109 multiple epiphyseal dysplasia, Lowry type 01-disease-subtype +MONDO:0011110 dyssegmental dysplasia-glaucoma syndrome 02-disease-root +MONDO:0011113 Charcot-Marie-Tooth disease type 4C 01-disease-subtype +MONDO:0011114 familial multiple trichoepithelioma 01-disease-subtype +MONDO:0011116 lung agenesis-heart defect-thumb anomalies syndrome 01-disease-subtype +MONDO:0011119 iridogoniodysgenesis 03-disease-area +MONDO:0011124 spondyloepimetaphyseal dysplasia-abnormal dentition syndrome 01-disease-subtype +MONDO:0011128 Sheldon-hall syndrome 01-disease-subtype +MONDO:0011131 tricho-oculo-dermo-vertebral syndrome 02-disease-root +MONDO:0011132 T-cell immunodeficiency, congenital alopecia, and nail dystrophy 02-disease-root +MONDO:0011133 deaf blind hypopigmentation syndrome, Yemenite type 02-disease-root +MONDO:0011134 Curry-Jones syndrome 02-disease-root +MONDO:0011136 Quebec platelet disorder 01-disease-subtype +MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type 01-disease-subtype +MONDO:0011144 ceroid lipofuscinosis, neuronal, 6A 01-disease-subtype +MONDO:0011145 colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome 01-disease-subtype +MONDO:0011146 tetrasomy 12p 01-disease-subtype +MONDO:0011147 chromosome 18q deletion syndrome 01-disease-subtype +MONDO:0011150 acroosteolysis-keloid-like lesions-premature aging syndrome 02-disease-root +MONDO:0011152 PHGDH deficiency 01-disease-subtype +MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 01-disease-subtype +MONDO:0011154 acrofacial dysostosis, Palagonia type 01-disease-subtype +MONDO:0011156 progressive familial intrahepatic cholestasis type 2 01-disease-subtype +MONDO:0011157 Gomez-Lopez-Hernandez syndrome 02-disease-root +MONDO:0011163 malignant hyperthermia, susceptibility to, 5 01-disease-subtype +MONDO:0011166 lymphedema-atrial septal defects-facial changes syndrome 01-disease-subtype +MONDO:0011169 keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome 01-disease-subtype +MONDO:0011170 autosomal recessive limb-girdle muscular dystrophy type 2G 01-disease-subtype +MONDO:0011171 odonto-tricho-ungual-digito-palmar syndrome 02-disease-root +MONDO:0011173 thrombocythemia 2 01-disease-subtype +MONDO:0011176 intestinal hypomagnesemia 1 01-disease-subtype +MONDO:0011178 infantile convulsions and choreoathetosis 01-disease-subtype +MONDO:0011182 trimethylaminuria 01-disease-subtype +MONDO:0011184 childhood apraxia of speech 01-disease-subtype +MONDO:0011185 Thiel-Behnke corneal dystrophy 01-disease-subtype +MONDO:0011190 nephronophthisis 2 01-disease-subtype +MONDO:0011191 capillary infantile hemangioma 02-disease-root +MONDO:0011193 cone dystrophy 3 01-disease-subtype +MONDO:0011197 hereditary thermosensitive neuropathy 02-disease-root +MONDO:0011198 spondyloepimetaphyseal dysplasia, Missouri type 01-disease-subtype +MONDO:0011200 torsion dystonia 7 01-disease-subtype +MONDO:0011202 RHYNS syndrome 02-disease-root +MONDO:0011208 malignant atrophic papulosis 02-disease-root +MONDO:0011211 axial spondylometaphyseal dysplasia 02-disease-root +MONDO:0011213 Pierpont syndrome 02-disease-root +MONDO:0011214 progressive familial intrahepatic cholestasis type 3 01-disease-subtype +MONDO:0011215 osteocraniostenosis 02-disease-root +MONDO:0011216 hemochromatosis type 2A 01-disease-subtype +MONDO:0011217 desmosterolosis 01-disease-subtype +MONDO:0011218 autosomal recessive congenital ichthyosis 11 01-disease-subtype +MONDO:0011219 Fried's tooth and nail syndrome 02-disease-root +MONDO:0011223 amyotrophic lateral sclerosis type 4 01-disease-subtype +MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency 01-disease-subtype +MONDO:0011227 short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome 02-disease-root +MONDO:0011229 ethylmalonic encephalopathy 01-disease-subtype +MONDO:0011235 pelvic dysplasia-arthrogryposis of lower limbs syndrome 02-disease-root +MONDO:0011236 hyperinsulinism due to glucokinase deficiency 01-disease-subtype +MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome 02-disease-root +MONDO:0011242 Bartter disease type 4a 01-disease-subtype +MONDO:0011243 grange syndrome 02-disease-root +MONDO:0011244 Marshall-Smith syndrome 01-disease-subtype +MONDO:0011246 megaconial type congenital muscular dystrophy 01-disease-subtype +MONDO:0011248 distal monosomy 13q 01-disease-subtype +MONDO:0011252 spondyloepimetaphyseal dysplasia, Shohat type 01-disease-subtype +MONDO:0011253 craniomicromelic syndrome 02-disease-root +MONDO:0011255 mandibulofacial dysostosis-macroblepharon-macrostomia syndrome 01-disease-subtype +MONDO:0011257 MPI-CDG 01-disease-subtype +MONDO:0011261 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability 01-disease-subtype +MONDO:0011264 torsion dystonia 6 01-disease-subtype +MONDO:0011266 myotonic dystrophy type 2 01-disease-subtype +MONDO:0011271 rigid spine muscular dystrophy 1 01-disease-subtype +MONDO:0011273 H syndrome 01-disease-subtype +MONDO:0011274 Muenke syndrome 02-disease-root +MONDO:0011275 acromesomelic dysplasia 1, Maroteaux type 01-disease-subtype +MONDO:0011283 mitochondrial DNA depletion syndrome 1 01-disease-subtype +MONDO:0011287 craniosynostosis-anal anomalies-porokeratosis syndrome 02-disease-root +MONDO:0011291 congenital disorder of glycosylation type 1C 01-disease-subtype +MONDO:0011299 Huntington disease-like 1 02-disease-root +MONDO:0011301 pseudohypoparathyroidism type 1B 01-disease-subtype +MONDO:0011303 focal segmental glomerulosclerosis 1 01-disease-subtype +MONDO:0011308 GRACILE syndrome 02-disease-root +MONDO:0011309 familial gestational hyperthyroidism 01-disease-subtype +MONDO:0011320 radioulnar synostosis-microcephaly-scoliosis syndrome 02-disease-root +MONDO:0011323 arhinia, choanal atresia, and microphthalmia 02-disease-root +MONDO:0011327 neuronal intranuclear inclusion disease 02-disease-root +MONDO:0011330 spinocerebellar ataxia type 10 01-disease-subtype +MONDO:0011334 limb-mammary syndrome 01-disease-subtype +MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations 01-disease-subtype +MONDO:0011338 Omenn syndrome 01-disease-subtype +MONDO:0011339 hereditary spastic paraplegia 8 01-disease-subtype +MONDO:0011340 congenital tracheal stenosis 02-disease-root +MONDO:0011342 SLC35A1-CDG 01-disease-subtype +MONDO:0011346 xanthinuria type II 01-disease-subtype +MONDO:0011348 non-syndromic polydactyly 03-disease-area +MONDO:0011359 acromelic frontonasal dysostosis 01-disease-subtype +MONDO:0011362 myopathy, myofibrillar, 9, with early respiratory failure 01-disease-subtype +MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type 01-disease-subtype +MONDO:0011369 hypercholesterolemia, autosomal dominant, 3 01-disease-subtype +MONDO:0011376 ventricular fibrillation, paroxysmal familial, type 1 01-disease-subtype +MONDO:0011377 long QT syndrome 3 01-disease-subtype +MONDO:0011380 leukoencephalopathy with vanishing white matter 02-disease-root +MONDO:0011381 dominant beta-thalassemia 01-disease-subtype +MONDO:0011382 sickle cell anemia 01-disease-subtype +MONDO:0011383 autoimmune lymphoproliferative syndrome type 2A 01-disease-subtype +MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts 01-disease-subtype +MONDO:0011393 hypoalphalipoproteinemia, primary, 1 01-disease-subtype +MONDO:0011396 loricrin keratoderma 01-disease-subtype +MONDO:0011397 autosomal dominant cerebellar ataxia, deafness and narcolepsy 01-disease-subtype +MONDO:0011398 dystrophic epidermolysis bullosa pruriginosa 01-disease-subtype +MONDO:0011399 alpha thalassemia 02-disease-root +MONDO:0011402 congenital cataracts-facial dysmorphism-neuropathy syndrome 01-disease-subtype +MONDO:0011405 poikiloderma with neutropenia 01-disease-subtype +MONDO:0011408 hereditary spastic paraplegia 10 01-disease-subtype +MONDO:0011411 Chudley-McCullough syndrome 02-disease-root +MONDO:0011412 familial encephalopathy with neuroserpin inclusion bodies 01-disease-subtype +MONDO:0011414 Peters anomaly 01-disease-subtype +MONDO:0011417 hemochromatosis type 3 01-disease-subtype +MONDO:0011420 short stature due to partial GHR deficiency 01-disease-subtype +MONDO:0011422 autosomal recessive proximal renal tubular acidosis 01-disease-subtype +MONDO:0011423 autosomal recessive limb-girdle muscular dystrophy type 2E 01-disease-subtype +MONDO:0011424 Carney triad 02-disease-root +MONDO:0011426 aceruloplasminemia 01-disease-subtype +MONDO:0011428 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 01-disease-subtype +MONDO:0011430 pulverulent cataract 01-disease-subtype +MONDO:0011431 MASS syndrome 02-disease-root +MONDO:0011432 blepharophimosis - intellectual disability syndrome, Verloes type 01-disease-subtype +MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 01-disease-subtype +MONDO:0011439 spinocerebellar ataxia type 12 01-disease-subtype +MONDO:0011445 hereditary spastic paraplegia 11 01-disease-subtype +MONDO:0011448 PPARG-related familial partial lipodystrophy 01-disease-subtype +MONDO:0011449 Salla disease 01-disease-subtype +MONDO:0011450 breast-ovarian cancer, familial, susceptibility to, 1 01-disease-subtype +MONDO:0011454 patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome 01-disease-subtype +MONDO:0011457 ataxia-telangiectasia-like disorder 02-disease-root +MONDO:0011459 arrhythmogenic right ventricular dysplasia 5 01-disease-subtype +MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome 01-disease-subtype +MONDO:0011464 spinocerebellar ataxia type 11 01-disease-subtype +MONDO:0011466 distal myopathy, Welander type 02-disease-root +MONDO:0011468 hereditary motor and sensory neuropathy, Okinawa type 01-disease-subtype +MONDO:0011469 congenital amegakaryocytic thrombocytopenia 01-disease-subtype +MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency 01-disease-subtype +MONDO:0011475 Charcot-Marie-Tooth disease type 4B2 01-disease-subtype +MONDO:0011476 MHC class I deficiency 02-disease-root +MONDO:0011481 craniosynostosis 2 02-disease-root +MONDO:0011484 catecholaminergic polymorphic ventricular tachycardia 1 01-disease-subtype +MONDO:0011486 congenital muscular dystrophy 1B 02-disease-root +MONDO:0011487 Huntington disease-like 3 02-disease-root +MONDO:0011489 hereditary spastic paraplegia 12 01-disease-subtype +MONDO:0011493 Stickler syndrome type 2 01-disease-subtype +MONDO:0011496 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis 01-disease-subtype +MONDO:0011497 hereditary North American Indian childhood cirrhosis 01-disease-subtype +MONDO:0011499 Okamoto syndrome 02-disease-root +MONDO:0011500 Becker nevus syndrome 02-disease-root +MONDO:0011501 wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia 02-disease-root +MONDO:0011504 NDE1-related microhydranencephaly 01-disease-subtype +MONDO:0011506 familial infantile myoclonic epilepsy 01-disease-subtype +MONDO:0011510 Bohring-Opitz syndrome 02-disease-root +MONDO:0011512 Brooke-Spiegler syndrome 01-disease-subtype +MONDO:0011517 pseudohyperaldosteronism type 2 01-disease-subtype +MONDO:0011518 Wiedemann-Steiner syndrome 02-disease-root +MONDO:0011522 hereditary spastic paraplegia 14 01-disease-subtype +MONDO:0011524 Dianzani autoimmune lymphoproliferative disease 02-disease-root +MONDO:0011527 Charcot-Marie-Tooth disease type 4E 01-disease-subtype +MONDO:0011528 hyper-IgM syndrome type 2 01-disease-subtype +MONDO:0011529 spinocerebellar ataxia type 13 01-disease-subtype +MONDO:0011530 mesomelic dysplasia, Savarirayan type 02-disease-root +MONDO:0011532 hereditary spastic paraplegia 13 01-disease-subtype +MONDO:0011533 temtamy preaxial brachydactyly syndrome 01-disease-subtype +MONDO:0011534 Charcot-Marie-Tooth disease type 4G 01-disease-subtype +MONDO:0011537 macrocephaly-autism syndrome 02-disease-root +MONDO:0011539 nemaline myopathy 5 01-disease-subtype +MONDO:0011540 spinocerebellar ataxia type 14 01-disease-subtype +MONDO:0011541 dilated cardiomyopathy 1J 02-disease-root +MONDO:0011551 TH-deficient dopa-responsive dystonia 01-disease-subtype +MONDO:0011555 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome 02-disease-root +MONDO:0011559 benign recurrent intrahepatic cholestasis type 2 01-disease-subtype +MONDO:0011569 Charcot-Marie-Tooth disease type 2B1 01-disease-subtype +MONDO:0011570 Charcot-Marie-Tooth disease type 2B2 01-disease-subtype +MONDO:0011571 deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 01-disease-subtype +MONDO:0011575 cerebrooculonasal syndrome 02-disease-root +MONDO:0011576 familial hyperaldosteronism type II 01-disease-subtype +MONDO:0011577 myopathy, proximal, and ophthalmoplegia 01-disease-subtype +MONDO:0011578 familial papillary thyroid carcinoma with renal papillary neoplasia 01-disease-subtype +MONDO:0011579 late-onset retinal degeneration 02-disease-root +MONDO:0011581 arrhythmogenic cardiomyopathy with woolly hair and keratoderma 01-disease-subtype +MONDO:0011582 multiple mitochondrial dysfunctions syndrome 1 01-disease-subtype +MONDO:0011583 cerebral amyloid angiopathy, APP-related 01-disease-subtype +MONDO:0011584 Fanconi anemia complementation group D1 01-disease-subtype +MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 01-disease-subtype +MONDO:0011595 nonsyndromic congenital nail disorder 7 01-disease-subtype +MONDO:0011599 birdshot chorioretinopathy 01-disease-subtype +MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency 01-disease-subtype +MONDO:0011603 GNE myopathy 01-disease-subtype +MONDO:0011604 spondylo-ocular syndrome 01-disease-subtype +MONDO:0011605 generalized basaloid follicular hamartoma syndrome 02-disease-root +MONDO:0011610 dimethylglycine dehydrogenase deficiency 01-disease-subtype +MONDO:0011612 glycine encephalopathy 01-disease-subtype +MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency 01-disease-subtype +MONDO:0011615 East Texas bleeding disorder 02-disease-root +MONDO:0011620 metaphyseal dysplasia, Braun-Tinschert type 02-disease-root +MONDO:0011621 acropectoral syndrome 02-disease-root +MONDO:0011624 transaldolase deficiency 01-disease-subtype +MONDO:0011628 propionic acidemia 02-disease-root +MONDO:0011629 MOGS-CDG 01-disease-subtype +MONDO:0011631 hemochromatosis type 4 01-disease-subtype +MONDO:0011633 Charcot-Marie-Tooth disease axonal type 2C 01-disease-subtype +MONDO:0011634 rippling muscle disease 02-disease-root +MONDO:0011638 neuroferritinopathy 01-disease-subtype +MONDO:0011640 genitopatellar syndrome 01-disease-subtype +MONDO:0011652 Phelan-McDermid syndrome 01-disease-subtype +MONDO:0011663 juvenile primary lateral sclerosis 01-disease-subtype +MONDO:0011664 immunodeficiency due to CD25 deficiency 02-disease-root +MONDO:0011667 maturity-onset diabetes of the young type 4 01-disease-subtype +MONDO:0011668 maturity-onset diabetes of the young type 6 01-disease-subtype +MONDO:0011669 hypotonia-cystinuria syndrome 01-disease-subtype +MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency 01-disease-subtype +MONDO:0011671 Huntington disease-like 2 01-disease-subtype +MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B 01-disease-subtype +MONDO:0011675 Charcot-Marie-Tooth Disease, axonal, type 2GG 01-disease-subtype +MONDO:0011676 PHACE syndrome 02-disease-root +MONDO:0011679 craniosynostosis syndrome, autosomal recessive 02-disease-root +MONDO:0011681 episodic ataxia type 4 01-disease-subtype +MONDO:0011682 episodic ataxia type 3 01-disease-subtype +MONDO:0011683 oculocutaneous albinism type 4 01-disease-subtype +MONDO:0011686 DNA ligase IV deficiency 01-disease-subtype +MONDO:0011687 Charcot-Marie-Tooth disease axonal type 2F 01-disease-subtype +MONDO:0011688 muscular dystrophy-dystroglycanopathy type B5 01-disease-subtype +MONDO:0011694 spinocerebellar ataxia type 15/16 01-disease-subtype +MONDO:0011698 glycine N-methyltransferase deficiency 01-disease-subtype +MONDO:0011705 lymphangioleiomyomatosis 01-disease-subtype +MONDO:0011706 Kufor-Rakeb syndrome 01-disease-subtype +MONDO:0011717 hyperinsulinism-hyperammonemia syndrome 01-disease-subtype +MONDO:0011719 gastrointestinal stromal tumor 01-disease-subtype +MONDO:0011721 distal myopathy with anterior tibial onset 01-disease-subtype +MONDO:0011722 intellectual disability-obesity-prognathism-eye and skin anomalies syndrome 02-disease-root +MONDO:0011724 encephalopathy due to GLUT1 deficiency 01-disease-subtype +MONDO:0011725 Crigler-Najjar syndrome type 2 01-disease-subtype +MONDO:0011730 fumaric aciduria 01-disease-subtype +MONDO:0011731 glucose-galactose malabsorption 02-disease-root +MONDO:0011732 familial digital arthropathy-brachydactyly 02-disease-root +MONDO:0011735 hyper-IgM syndrome type 3 01-disease-subtype +MONDO:0011738 bilateral frontoparietal polymicrogyria 01-disease-subtype +MONDO:0011740 Carney-Stratakis syndrome 02-disease-root +MONDO:0011744 primary intraosseous venous malformation 01-disease-subtype +MONDO:0011749 oculocutaneous albinism type 1B 01-disease-subtype +MONDO:0011754 familial hyperreninemic hypoaldosteronism type 2 01-disease-subtype +MONDO:0011758 Hurler syndrome 01-disease-subtype +MONDO:0011759 Hurler-Scheie syndrome 01-disease-subtype +MONDO:0011760 Scheie syndrome 01-disease-subtype +MONDO:0011765 multiple epiphyseal dysplasia type 5 01-disease-subtype +MONDO:0011766 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome 01-disease-subtype +MONDO:0011771 distal spinal muscular atrophy type 3 01-disease-subtype +MONDO:0011772 B4GALT1-CDG 01-disease-subtype +MONDO:0011773 anauxetic dysplasia 02-disease-root +MONDO:0011776 CINCA syndrome 01-disease-subtype +MONDO:0011778 multiple epiphyseal dysplasia, Al-Gazali type 01-disease-subtype +MONDO:0011781 spinocerebellar ataxia type 17 01-disease-subtype +MONDO:0011783 ALG12-CDG 01-disease-subtype +MONDO:0011785 hereditary spastic paraplegia 19 01-disease-subtype +MONDO:0011787 autosomal recessive limb-girdle muscular dystrophy type 2I 01-disease-subtype +MONDO:0011788 cloverleaf skull-multiple congenital anomalies syndrome 02-disease-root +MONDO:0011789 familial meningioma 01-disease-subtype +MONDO:0011790 Amish lethal microcephaly 01-disease-subtype +MONDO:0011795 anonychia-microcephaly syndrome 02-disease-root +MONDO:0011797 infantile-onset ascending hereditary spastic paralysis 02-disease-root +MONDO:0011801 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 01-disease-subtype +MONDO:0011803 hereditary spastic paraplegia 7 01-disease-subtype +MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B 01-disease-subtype +MONDO:0011810 horizontal gaze palsy with progressive scoliosis 02-disease-root +MONDO:0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome 01-disease-subtype +MONDO:0011812 Duane-radial ray syndrome 02-disease-root +MONDO:0011816 lathosterolosis 01-disease-subtype +MONDO:0011818 isolated focal cortical dysplasia type II 01-disease-subtype +MONDO:0011819 spinocerebellar ataxia type 19/22 01-disease-subtype +MONDO:0011822 Bartter disease type 3 01-disease-subtype +MONDO:0011823 developmental malformations-deafness-dystonia syndrome 01-disease-subtype +MONDO:0011830 lissencephaly due to LIS1 mutation 01-disease-subtype +MONDO:0011831 arrhythmogenic right ventricular dysplasia 8 01-disease-subtype +MONDO:0011833 spinocerebellar ataxia type 21 01-disease-subtype +MONDO:0011834 spinocerebellar ataxia type 18 01-disease-subtype +MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 01-disease-subtype +MONDO:0011837 vitamin K-dependent clotting factors, combined deficiency of, type 2 01-disease-subtype +MONDO:0011838 Bothnia retinal dystrophy 01-disease-subtype +MONDO:0011841 biotin-responsive basal ganglia disease 01-disease-subtype +MONDO:0011842 Grn-related frontotemporal lobar degeneration with Tdp43 inclusions 01-disease-subtype +MONDO:0011853 Camptosynpolydactyly, complex 02-disease-root +MONDO:0011855 granular corneal dystrophy type II 01-disease-subtype +MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome 02-disease-root +MONDO:0011862 hereditary spastic paraplegia 24 02-disease-root +MONDO:0011868 lethal congenital contracture syndrome 2 01-disease-subtype +MONDO:0011869 epidermolysis bullosa simplex superficialis 01-disease-subtype +MONDO:0011870 annular epidermolytic ichthyosis 01-disease-subtype +MONDO:0011871 Niemann-Pick disease type B 01-disease-subtype +MONDO:0011872 Griscelli syndrome type 2 01-disease-subtype +MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome 01-disease-subtype +MONDO:0011876 juvenile absence epilepsy 02-disease-root +MONDO:0011877 autosomal dominant osteopetrosis 1 01-disease-subtype +MONDO:0011882 skin fragility-woolly hair-palmoplantar keratoderma syndrome 01-disease-subtype +MONDO:0011883 Curly hair - acral keratoderma - caries syndrome 01-disease-subtype +MONDO:0011884 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome 01-disease-subtype +MONDO:0011886 torsion dystonia 13 01-disease-subtype +MONDO:0011888 immunodeficiency 67 02-disease-root +MONDO:0011889 Charcot-Marie-Tooth disease type 2I 01-disease-subtype +MONDO:0011890 Charcot-Marie-Tooth disease type 1D 01-disease-subtype +MONDO:0011894 Charcot-Marie-Tooth disease type 2E 01-disease-subtype +MONDO:0011895 idiopathic hypereosinophilic syndrome 01-disease-subtype +MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome 02-disease-root +MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair 02-disease-root +MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H 01-disease-subtype +MONDO:0011902 Charcot-Marie-Tooth disease type 1F 01-disease-subtype +MONDO:0011903 Charcot-Marie-Tooth disease type 2J 01-disease-subtype +MONDO:0011906 congenital bile acid synthesis defect 1 01-disease-subtype +MONDO:0011907 acrocapitofemoral dysplasia 01-disease-subtype +MONDO:0011909 Charcot-Marie-Tooth disease dominant intermediate D 01-disease-subtype +MONDO:0011911 craniolenticulosutural dysplasia 02-disease-root +MONDO:0011916 Charcot-Marie-Tooth disease axonal type 2K 01-disease-subtype +MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A 01-disease-subtype +MONDO:0011927 tufted angioma 01-disease-subtype +MONDO:0011928 caudal duplication 02-disease-root +MONDO:0011929 chromosome 1p36 deletion syndrome 01-disease-subtype +MONDO:0011933 ALG2-CDG 01-disease-subtype +MONDO:0011934 dermatofibrosarcoma protuberans 01-disease-subtype +MONDO:0011936 microphthalmia with brain and digit anomalies 01-disease-subtype +MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation 02-disease-root +MONDO:0011945 Gaucher disease perinatal lethal 01-disease-subtype +MONDO:0011946 diaphanospondylodysostosis 02-disease-root +MONDO:0011948 pontocerebellar hypoplasia type 3 01-disease-subtype +MONDO:0011950 infantile-onset autosomal recessive nonprogressive cerebellar ataxia 01-disease-subtype +MONDO:0011953 familial acute necrotizing encephalopathy 01-disease-subtype +MONDO:0011957 retinal macular dystrophy type 2 02-disease-root +MONDO:0011959 sweet syndrome 02-disease-root +MONDO:0011961 hereditary sensory and autonomic neuropathy type 1B 01-disease-subtype +MONDO:0011962 endometrial cancer 02-disease-root +MONDO:0011964 DPAGT1-CDG 01-disease-subtype +MONDO:0011965 familial temporal lobe epilepsy 2 01-disease-subtype +MONDO:0011968 autosomal recessive limb-girdle muscular dystrophy type 2D 01-disease-subtype +MONDO:0011969 ALG8-CDG 01-disease-subtype +MONDO:0011970 rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome 01-disease-subtype +MONDO:0011971 hyper-IgM syndrome type 5 01-disease-subtype +MONDO:0011972 ovarian hyperstimulation syndrome 02-disease-root +MONDO:0011973 zinc deficiency, transient neonatal 02-disease-root +MONDO:0011975 paternal uniparental disomy of chromosome 14 01-disease-subtype +MONDO:0011976 lipodystrophy-intellectual disability-deafness syndrome 01-disease-subtype +MONDO:0011977 8q22.1 microdeletion syndrome 01-disease-subtype +MONDO:0011979 adult-onset foveomacular vitelliform dystrophy 01-disease-subtype +MONDO:0011984 synpolydactyly type 2 01-disease-subtype +MONDO:0011985 hyper-IgM syndrome type 4 01-disease-subtype +MONDO:0011988 neutrophil immunodeficiency syndrome 01-disease-subtype +MONDO:0011992 hereditary spastic paraplegia 25 02-disease-root +MONDO:0011995 cataract - congenital heart disease - neural tube defect syndrome 01-disease-subtype +MONDO:0011997 Hermansky-Pudlak syndrome 2 01-disease-subtype +MONDO:0011998 autosomal dominant slowed nerve conduction velocity 02-disease-root +MONDO:0012008 Lelis syndrome 02-disease-root +MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C 01-disease-subtype +MONDO:0012013 Weill-Marchesani syndrome 2, dominant 01-disease-subtype +MONDO:0012014 Charcot-Marie-Tooth disease recessive intermediate A 01-disease-subtype +MONDO:0012016 capillary malformation-arteriovenous malformation syndrome 02-disease-root +MONDO:0012017 Parkes Weber syndrome 01-disease-subtype +MONDO:0012019 spondyloepiphyseal dysplasia, Kimberley type 01-disease-subtype +MONDO:0012020 chromosome 22q11.2 microduplication syndrome 01-disease-subtype +MONDO:0012032 Braddock syndrome 01-disease-subtype +MONDO:0012033 bradyopsia 02-disease-root +MONDO:0012034 autosomal dominant limb-girdle muscular dystrophy type 1F 01-disease-subtype +MONDO:0012035 craniosynostosis-intracranial calcifications syndrome 02-disease-root +MONDO:0012041 MUTYH-related attenuated familial adenomatous polyposis 01-disease-subtype +MONDO:0012043 Reis-Bucklers corneal dystrophy 01-disease-subtype +MONDO:0012052 ALG1-CDG 01-disease-subtype +MONDO:0012055 Larsen-like osseous dysplasia-short stature syndrome 02-disease-root +MONDO:0012061 familial sick sinus syndrome 02-disease-root +MONDO:0012063 ulnar/fibula ray defect-brachydactyly syndrome 02-disease-root +MONDO:0012064 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome 02-disease-root +MONDO:0012072 familial partial lipodystrophy, Kobberling type 01-disease-subtype +MONDO:0012073 ribose-5-P isomerase deficiency 01-disease-subtype +MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy 01-disease-subtype +MONDO:0012075 oligodontia-cancer predisposition syndrome 02-disease-root +MONDO:0012081 15q11q13 microduplication syndrome 01-disease-subtype +MONDO:0012084 aromatic L-amino acid decarboxylase deficiency 01-disease-subtype +MONDO:0012088 primary ciliary dyskinesia 5 01-disease-subtype +MONDO:0012089 ichthyosis prematurity syndrome 02-disease-root +MONDO:0012092 hereditary sensory and autonomic neuropathy type 5 01-disease-subtype +MONDO:0012095 intellectual disability-brachydactyly-Pierre Robin syndrome 01-disease-subtype +MONDO:0012096 Charcot-Marie-Tooth disease axonal type 2L 01-disease-subtype +MONDO:0012098 spinocerebellar ataxia type 20 01-disease-subtype +MONDO:0012099 AICA-ribosiduria 01-disease-subtype +MONDO:0012103 spinocerebellar ataxia type 25 01-disease-subtype +MONDO:0012104 acquired partial lipodystrophy 01-disease-subtype +MONDO:0012108 spondyloepimetaphyseal dysplasia, matrilin-3 type 01-disease-subtype +MONDO:0012110 growth delay due to insulin-like growth factor type 1 deficiency 01-disease-subtype +MONDO:0012112 hypertrophic cardiomyopathy 10 02-disease-root +MONDO:0012116 spinocerebellar ataxia type 8 01-disease-subtype +MONDO:0012117 ALG9-CDG 01-disease-subtype +MONDO:0012118 COG7-CDG 01-disease-subtype +MONDO:0012120 pyruvate dehydrogenase phosphatase deficiency 01-disease-subtype +MONDO:0012123 congenital disorder of glycosylation type 1E 01-disease-subtype +MONDO:0012124 sudden infant death-dysgenesis of the testes syndrome 01-disease-subtype +MONDO:0012125 hypomyelinating leukodystrophy 2 02-disease-root +MONDO:0012126 familial avascular necrosis of femoral head 02-disease-root +MONDO:0012127 autosomal recessive limb-girdle muscular dystrophy type 2J 01-disease-subtype +MONDO:0012130 myofibrillar myopathy 2 01-disease-subtype +MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form 01-disease-subtype +MONDO:0012137 Carney complex - trismus - pseudocamptodactyly syndrome 01-disease-subtype +MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin 01-disease-subtype +MONDO:0012155 choanal atresia 02-disease-root +MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome 02-disease-root +MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation 02-disease-root +MONDO:0012164 Meacham syndrome 01-disease-subtype +MONDO:0012165 BNAR syndrome 01-disease-subtype +MONDO:0012172 mitochondrial trifunctional protein deficiency 02-disease-root +MONDO:0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 01-disease-subtype +MONDO:0012176 Emanuel syndrome 02-disease-root +MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome 01-disease-subtype +MONDO:0012181 hereditary spastic paraplegia 27 02-disease-root +MONDO:0012183 melanoma, cutaneous malignant, susceptibility to, 3 01-disease-subtype +MONDO:0012184 Pierson syndrome 01-disease-subtype +MONDO:0012185 spondylometaphyseal dysplasia, A4 type 02-disease-root +MONDO:0012186 Fanconi anemia complementation group I 01-disease-subtype +MONDO:0012187 Fanconi anemia complementation group J 01-disease-subtype +MONDO:0012188 neuronal ceroid lipofuscinosis 9 01-disease-subtype +MONDO:0012190 nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome 01-disease-subtype +MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 02-disease-root +MONDO:0012192 permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome 01-disease-subtype +MONDO:0012193 autosomal dominant limb-girdle muscular dystrophy type 1G 01-disease-subtype +MONDO:0012195 arthrogryposis-severe scoliosis syndrome 01-disease-subtype +MONDO:0012197 idiopathic aplastic anemia 01-disease-subtype +MONDO:0012198 PCWH syndrome 02-disease-root +MONDO:0012203 familial hyperthyroidism due to mutations in TSH receptor 01-disease-subtype +MONDO:0012204 familial pseudohyperkalemia 01-disease-subtype +MONDO:0012205 autosomal dominant striatal neurodegeneration type 1 01-disease-subtype +MONDO:0012206 Czech dysplasia, metatarsal type 01-disease-subtype +MONDO:0012208 congenital reticular ichthyosiform erythroderma 01-disease-subtype +MONDO:0012209 branchiogenic deafness syndrome 02-disease-root +MONDO:0012211 MPDU1-CDG 01-disease-subtype +MONDO:0012213 hereditary spastic paraplegia 26 02-disease-root +MONDO:0012215 myofibrillar myopathy 3 01-disease-subtype +MONDO:0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome 01-disease-subtype +MONDO:0012220 Griscelli syndrome type 3 01-disease-subtype +MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 01-disease-subtype +MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 01-disease-subtype +MONDO:0012231 Charcot-Marie-Tooth disease type 2A2 01-disease-subtype +MONDO:0012235 autosomal recessive spinocerebellar ataxia 7 01-disease-subtype +MONDO:0012237 nemaline myopathy 6 01-disease-subtype +MONDO:0012246 spinocerebellar ataxia type 26 01-disease-subtype +MONDO:0012247 spinocerebellar ataxia type 27 01-disease-subtype +MONDO:0012248 autosomal recessive limb-girdle muscular dystrophy type 2K 01-disease-subtype +MONDO:0012250 Charcot-Marie-Tooth disease type 4H 01-disease-subtype +MONDO:0012251 MEDNIK syndrome 01-disease-subtype +MONDO:0012253 multiple epiphyseal dysplasia, with severe proximal femoral dysplasia 01-disease-subtype +MONDO:0012254 multiple epiphyseal dysplasia, with miniepiphyses 01-disease-subtype +MONDO:0012256 hereditary spastic paraplegia 28 01-disease-subtype +MONDO:0012257 Cerebrorenodigital syndrome 02-disease-root +MONDO:0012258 epidermolysis bullosa simplex 2E, with migratory circinate erythema 01-disease-subtype +MONDO:0012269 chromosome 3q29 microdeletion syndrome 01-disease-subtype +MONDO:0012271 mesoaxial synostotic syndactyly with phalangeal reduction 01-disease-subtype +MONDO:0012274 acromesomelic dysplasia 3 01-disease-subtype +MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome 01-disease-subtype +MONDO:0012277 myofibrillar myopathy 4 01-disease-subtype +MONDO:0012280 Goldberg-Shprintzen megacolon syndrome 02-disease-root +MONDO:0012282 Al-Gazali syndrome 01-disease-subtype +MONDO:0012289 myofibrillar myopathy 5 01-disease-subtype +MONDO:0012290 CEDNIK syndrome 01-disease-subtype +MONDO:0012296 lipomyelomeningocele 02-disease-root +MONDO:0012297 SPOAN syndrome 01-disease-subtype +MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form 01-disease-subtype +MONDO:0012307 familial scaphocephaly syndrome, McGillivray type 01-disease-subtype +MONDO:0012308 Joubert syndrome with renal defect 01-disease-subtype +MONDO:0012315 distal 10q deletion syndrome 01-disease-subtype +MONDO:0012316 Majeed syndrome 01-disease-subtype +MONDO:0012320 migraine, familial hemiplegic, 3 01-disease-subtype +MONDO:0012322 holoprosencephaly 5 01-disease-subtype +MONDO:0012323 lethal acantholytic epidermolysis bullosa 01-disease-subtype +MONDO:0012324 Frias syndrome 01-disease-subtype +MONDO:0012328 trichilemmal cyst 02-disease-root +MONDO:0012330 talo-patello-scaphoid osteolysis 02-disease-root +MONDO:0012332 short stature-delayed bone age due to thyroid hormone metabolism deficiency 01-disease-subtype +MONDO:0012334 hereditary spastic paraplegia 29 02-disease-root +MONDO:0012335 obesity due to pro-opiomelanocortin deficiency 01-disease-subtype +MONDO:0012342 7q11.23 microduplication syndrome 01-disease-subtype +MONDO:0012345 acral peeling skin syndrome 01-disease-subtype +MONDO:0012350 complement factor H deficiency 01-disease-subtype +MONDO:0012351 zygodactyly type 1 01-disease-subtype +MONDO:0012354 platelet-type bleeding disorder 8 01-disease-subtype +MONDO:0012359 combined immunodeficiency due to partial RAG1 deficiency 01-disease-subtype +MONDO:0012363 retinitis pigmentosa 32 01-disease-subtype +MONDO:0012368 aminoacylase 1 deficiency 02-disease-root +MONDO:0012381 hyperinsulinism due to INSR deficiency 01-disease-subtype +MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 01-disease-subtype +MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency 02-disease-root +MONDO:0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome 02-disease-root +MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant 01-disease-subtype +MONDO:0012392 2-methylbutyryl-CoA dehydrogenase deficiency 02-disease-root +MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency 01-disease-subtype +MONDO:0012396 exercise-induced hyperinsulinism 01-disease-subtype +MONDO:0012399 complex cortical dysplasia with other brain malformations 7 01-disease-subtype +MONDO:0012400 cortical dysplasia-focal epilepsy syndrome 01-disease-subtype +MONDO:0012401 congenital stromal corneal dystrophy 01-disease-subtype +MONDO:0012407 pyridoxal phosphate-responsive seizures 01-disease-subtype +MONDO:0012410 Finnish upper limb-onset distal myopathy 02-disease-root +MONDO:0012411 giant axonal neuropathy 2 01-disease-subtype +MONDO:0012413 syndromic microphthalmia type 5 01-disease-subtype +MONDO:0012414 neuronal ceroid lipofuscinosis 10 01-disease-subtype +MONDO:0012417 heart-hand syndrome, Slovenian type 01-disease-subtype +MONDO:0012423 MORM syndrome 02-disease-root +MONDO:0012431 diaphragmatic hernia 3 01-disease-subtype +MONDO:0012435 3-methylglutaconic aciduria type 5 01-disease-subtype +MONDO:0012436 neonatal diabetes mellitus with congenital hypothyroidism 01-disease-subtype +MONDO:0012438 pontocerebellar hypoplasia type 5 01-disease-subtype +MONDO:0012439 Alagille syndrome due to a NOTCH2 point mutation 01-disease-subtype +MONDO:0012446 seborrhea-like dermatitis with psoriasiform elements 02-disease-root +MONDO:0012447 synpolydactyly type 3 01-disease-subtype +MONDO:0012449 spinocerebellar ataxia type 23 01-disease-subtype +MONDO:0012450 spinocerebellar ataxia type 28 01-disease-subtype +MONDO:0012453 hereditary spastic paraplegia 31 01-disease-subtype +MONDO:0012455 Kleefstra syndrome 02-disease-root +MONDO:0012456 congenital primary aphakia 01-disease-subtype +MONDO:0012462 autosomal recessive frontotemporal pachygyria 02-disease-root +MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency 01-disease-subtype +MONDO:0012475 cone dystrophy with supernormal rod response 01-disease-subtype +MONDO:0012476 hereditary spastic paraplegia 30 01-disease-subtype +MONDO:0012479 congenital malabsorptive diarrhea 4 01-disease-subtype +MONDO:0012481 mevalonic aciduria 01-disease-subtype +MONDO:0012495 spondyloepimetaphyseal dysplasia, Genevieve type 01-disease-subtype +MONDO:0012496 Koolen-de Vries syndrome 02-disease-root +MONDO:0012502 normophosphatemic familial tumoral calcinosis 01-disease-subtype +MONDO:0012503 thiopurine S-methyltransferase deficiency 01-disease-subtype +MONDO:0012504 camptodactyly-tall stature-scoliosis-hearing loss syndrome 02-disease-root +MONDO:0012508 agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome 01-disease-subtype +MONDO:0012510 combined oxidative phosphorylation defect type 2 02-disease-root +MONDO:0012511 preterm premature rupture of the membranes 02-disease-root +MONDO:0012512 fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 02-disease-root +MONDO:0012514 hypomyelinating leukodystrophy 5 01-disease-subtype +MONDO:0012516 mandibulofacial dysostosis-microcephaly syndrome 01-disease-subtype +MONDO:0012517 atypical Gaucher disease due to saposin C deficiency 01-disease-subtype +MONDO:0012519 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion 01-disease-subtype +MONDO:0012520 insulin-resistance syndrome type A 01-disease-subtype +MONDO:0012521 herpes simplex encephalitis 01-disease-subtype +MONDO:0012524 corticosterone methyloxidase type 2 deficiency 01-disease-subtype +MONDO:0012526 hereditary angioedema type 3 01-disease-subtype +MONDO:0012530 palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome 01-disease-subtype +MONDO:0012531 xeroderma pigmentosum group B 01-disease-subtype +MONDO:0012534 combined oxidative phosphorylation defect type 4 02-disease-root +MONDO:0012538 nemaline myopathy 7 01-disease-subtype +MONDO:0012541 deafness with labyrinthine aplasia, microtia, and microdontia 02-disease-root +MONDO:0012544 brachydactyly-syndactyly syndrome 02-disease-root +MONDO:0012545 neutral lipid storage myopathy 01-disease-subtype +MONDO:0012548 Kostmann syndrome 01-disease-subtype +MONDO:0012549 autosomal recessive ataxia, Beauce type 01-disease-subtype +MONDO:0012552 multiple endocrine neoplasia type 4 01-disease-subtype +MONDO:0012556 DK1-CDG 01-disease-subtype +MONDO:0012557 cardiomyopathy-hypotonia-lactic acidosis syndrome 01-disease-subtype +MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency 01-disease-subtype +MONDO:0012561 congenital anomalies of kidney and urinary tract 1 01-disease-subtype +MONDO:0012565 Fanconi anemia complementation group N 01-disease-subtype +MONDO:0012570 body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency 02-disease-root +MONDO:0012574 Potocki-Lupski syndrome 01-disease-subtype +MONDO:0012580 hereditary pulmonary alveolar proteinosis 02-disease-root +MONDO:0012586 coronary artery disease, autosomal dominant 2 01-disease-subtype +MONDO:0012588 neuronal ceroid lipofuscinosis 7 01-disease-subtype +MONDO:0012589 Pitt-Hopkins syndrome 01-disease-subtype +MONDO:0012590 XFE progeroid syndrome 02-disease-root +MONDO:0012591 osteogenesis imperfecta type 5 01-disease-subtype +MONDO:0012593 brain-lung-thyroid syndrome 01-disease-subtype +MONDO:0012594 complement factor I deficiency 02-disease-root +MONDO:0012596 PSAT deficiency 01-disease-subtype +MONDO:0012605 isolated microphthalmia 5 01-disease-subtype +MONDO:0012608 autosomal recessive lower motor neuron disease with childhood onset 01-disease-subtype +MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy 01-disease-subtype +MONDO:0012621 deafness-infertility syndrome 01-disease-subtype +MONDO:0012622 leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome 02-disease-root +MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency 01-disease-subtype +MONDO:0012634 craniofacial dysplasia - osteopenia syndrome 02-disease-root +MONDO:0012635 COG8-CDG 01-disease-subtype +MONDO:0012637 COG1-CDG 01-disease-subtype +MONDO:0012638 microphthalmia-brain atrophy syndrome 01-disease-subtype +MONDO:0012639 hereditary spastic paraplegia 18 02-disease-root +MONDO:0012640 Charcot-Marie-Tooth disease type 4J 01-disease-subtype +MONDO:0012643 hereditary spastic paraplegia 32 02-disease-root +MONDO:0012648 isobutyryl-CoA dehydrogenase deficiency 02-disease-root +MONDO:0012650 Cernunnos-XLF deficiency 01-disease-subtype +MONDO:0012651 spastic ataxia 2 02-disease-root +MONDO:0012652 autosomal recessive limb-girdle muscular dystrophy type 2L 01-disease-subtype +MONDO:0012656 lethal congenital contracture syndrome 3 01-disease-subtype +MONDO:0012657 Mungan syndrome 02-disease-root +MONDO:0012658 brachydactyly type B2 01-disease-subtype +MONDO:0012662 Usher syndrome type 2D 01-disease-subtype +MONDO:0012664 spastic ataxia 3 02-disease-root +MONDO:0012665 cataract 33 01-disease-subtype +MONDO:0012669 Legius syndrome 01-disease-subtype +MONDO:0012670 autosomal recessive nonsyndromic hearing loss 63 01-disease-subtype +MONDO:0012675 corticosteroid-binding globulin deficiency 02-disease-root +MONDO:0012676 autosomal recessive osteopetrosis 4 01-disease-subtype +MONDO:0012679 autosomal recessive osteopetrosis 6 01-disease-subtype +MONDO:0012683 pontocerebellar hypoplasia type 6 01-disease-subtype +MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency 02-disease-root +MONDO:0012699 autosomal recessive limb-girdle muscular dystrophy type 2M 01-disease-subtype +MONDO:0012700 renal tubular acidosis, distal, 4, with hemolytic anemia 01-disease-subtype +MONDO:0012701 cataract 12 multiple types 01-disease-subtype +MONDO:0012703 lissencephaly due to TUBA1A mutation 02-disease-root +MONDO:0012714 early-onset myopathy with fatal cardiomyopathy 02-disease-root +MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type 01-disease-subtype +MONDO:0012718 hypotonia with lactic acidemia and hyperammonemia 02-disease-root +MONDO:0012719 encephalopathy due to prosaposin deficiency 02-disease-root +MONDO:0012721 progressive myoclonic epilepsy type 3 01-disease-subtype +MONDO:0012724 familial cold autoinflammatory syndrome 2 01-disease-subtype +MONDO:0012725 lipoprotein glomerulopathy 02-disease-root +MONDO:0012726 autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome 01-disease-subtype +MONDO:0012733 autosomal recessive bestrophinopathy 01-disease-subtype +MONDO:0012734 SERKAL syndrome 01-disease-subtype +MONDO:0012737 long QT syndrome 10 01-disease-subtype +MONDO:0012738 long QT syndrome 11 01-disease-subtype +MONDO:0012739 microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome 02-disease-root +MONDO:0012740 chromosome 22q11.2 deletion syndrome, distal 01-disease-subtype +MONDO:0012747 glycogen storage disease due to aldolase A deficiency 01-disease-subtype +MONDO:0012750 lethal arthrogryposis-anterior horn cell disease syndrome 01-disease-subtype +MONDO:0012755 episodic ataxia type 7 01-disease-subtype +MONDO:0012756 proximal 16p11.2 microdeletion syndrome 01-disease-subtype +MONDO:0012757 lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome 01-disease-subtype +MONDO:0012761 chromosome 3q29 microduplication syndrome 01-disease-subtype +MONDO:0012766 hereditary spastic paraplegia 37 01-disease-subtype +MONDO:0012774 chromosome 15q13.3 microdeletion syndrome 01-disease-subtype +MONDO:0012783 RFT1-CDG 01-disease-subtype +MONDO:0012784 autosomal recessive ataxia due to ubiquinone deficiency 01-disease-subtype +MONDO:0012786 juvenile cataract-microcornea-renal glucosuria syndrome 01-disease-subtype +MONDO:0012787 hereditary spastic paraplegia 39 01-disease-subtype +MONDO:0012789 dystonia 16 01-disease-subtype +MONDO:0012791 mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 01-disease-subtype +MONDO:0012792 mitochondrial DNA depletion syndrome 8a 01-disease-subtype +MONDO:0012794 ANE syndrome 01-disease-subtype +MONDO:0012799 hypertrophic cardiomyopathy 11 02-disease-root +MONDO:0012802 oculoauricular syndrome 01-disease-subtype +MONDO:0012803 diarrhea-vomiting due to trehalase deficiency 02-disease-root +MONDO:0012804 hypertrophic cardiomyopathy 12 02-disease-root +MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 01-disease-subtype +MONDO:0012806 ectodermal dysplasia and immunodeficiency 2 01-disease-subtype +MONDO:0012807 epidermolysis bullosa simplex 5C, with pyloric atresia 01-disease-subtype +MONDO:0012815 Coats plus syndrome 02-disease-root +MONDO:0012824 hypomyelinating leukodystrophy 4 02-disease-root +MONDO:0012825 extraskeletal myxoid chondrosarcoma 02-disease-root +MONDO:0012830 chromosome 10q23 deletion syndrome 01-disease-subtype +MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome 01-disease-subtype +MONDO:0012853 Fontaine progeroid syndrome 02-disease-root +MONDO:0012854 bilateral microtia-deafness-cleft palate syndrome 02-disease-root +MONDO:0012856 Birk-Barel syndrome 02-disease-root +MONDO:0012858 primary CD59 deficiency 02-disease-root +MONDO:0012859 autosomal recessive osteopetrosis 7 01-disease-subtype +MONDO:0012864 chromosome 2q32-q33 deletion syndrome 01-disease-subtype +MONDO:0012866 hereditary spastic paraplegia 35 01-disease-subtype +MONDO:0012867 hereditary spastic paraplegia 38 02-disease-root +MONDO:0012868 thrombophilia due to protein S deficiency, autosomal dominant 01-disease-subtype +MONDO:0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type 01-disease-subtype +MONDO:0012876 heparin cofactor 2 deficiency 01-disease-subtype +MONDO:0012880 hypogonadotropic hypogonadism 5 with or without anosmia 01-disease-subtype +MONDO:0012885 SRD5A3-CDG 01-disease-subtype +MONDO:0012892 bone fragility with contractures, arterial rupture, and deafness 02-disease-root +MONDO:0012895 torsion dystonia 17 01-disease-subtype +MONDO:0012897 congenital factor XI deficiency 01-disease-subtype +MONDO:0012901 inherited prekallikrein deficiency 01-disease-subtype +MONDO:0012905 hypomyelinating leukodystrophy 6 02-disease-root +MONDO:0012907 blindness - scoliosis - arachnodactyly syndrome 02-disease-root +MONDO:0012909 skeletal defects, genital hypoplasia, and intellectual disability 02-disease-root +MONDO:0012911 pseudohypoparathyroidism type 1C 01-disease-subtype +MONDO:0012912 pseudopseudohypoparathyroidism 01-disease-subtype +MONDO:0012914 chromosome 1q21.1 deletion syndrome 01-disease-subtype +MONDO:0012915 chromosome 1q21.1 duplication syndrome 01-disease-subtype +MONDO:0012916 chromosome 2p16.1-p15 deletion syndrome 01-disease-subtype +MONDO:0012927 chromosome 1q41-q42 deletion syndrome 01-disease-subtype +MONDO:0012928 hereditary spastic paraplegia 42 01-disease-subtype +MONDO:0012929 Compton-North congenital myopathy 01-disease-subtype +MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency 01-disease-subtype +MONDO:0012933 breast-ovarian cancer, familial, susceptibility to, 2 01-disease-subtype +MONDO:0012941 inflammatory bowel disease 25 01-disease-subtype +MONDO:0012944 chromosome 17P13.3, telomeric, duplication syndrome 01-disease-subtype +MONDO:0012948 chromosome 6pter-p24 deletion syndrome 01-disease-subtype +MONDO:0012964 chromosome 15q26-qter deletion syndrome 01-disease-subtype +MONDO:0012967 hemolytic anemia due to adenylate kinase deficiency 02-disease-root +MONDO:0012980 endocrine-cerebro-osteodysplasia syndrome 01-disease-subtype +MONDO:0012982 episodic ataxia type 6 01-disease-subtype +MONDO:0012984 PHARC syndrome 01-disease-subtype +MONDO:0012986 bilateral parasagittal parieto-occipital polymicrogyria 01-disease-subtype +MONDO:0012988 hypogonadotropic hypogonadism 6 with or without anosmia 01-disease-subtype +MONDO:0012991 Kahrizi syndrome 02-disease-root +MONDO:0012992 pancreatic insufficiency-anemia-hyperostosis syndrome 01-disease-subtype +MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency 01-disease-subtype +MONDO:0012996 AGAT deficiency 01-disease-subtype +MONDO:0012999 guanidinoacetate methyltransferase deficiency 01-disease-subtype +MONDO:0013000 porphyria due to ALA dehydratase deficiency 01-disease-subtype +MONDO:0013003 isolated congenital hypoglossia/aglossia 02-disease-root +MONDO:0013005 EAST syndrome 02-disease-root +MONDO:0013006 isolated growth hormone deficiency type IB 01-disease-subtype +MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency 02-disease-root +MONDO:0013008 combined immunodeficiency due to STIM1 deficiency 02-disease-root +MONDO:0013014 spondyloepimetaphyseal dysplasia, aggrecan type 01-disease-subtype +MONDO:0013016 leukocyte adhesion deficiency 3 01-disease-subtype +MONDO:0013017 hypotrichosis 5 01-disease-subtype +MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis 01-disease-subtype +MONDO:0013025 chromosome 6q24-q25 deletion syndrome 01-disease-subtype +MONDO:0013026 subepithelial mucinous corneal dystrophy 01-disease-subtype +MONDO:0013027 posterior amorphous corneal dystrophy 01-disease-subtype +MONDO:0013028 adenosine monophosphate deaminase deficiency 01-disease-subtype +MONDO:0013035 orofaciodigital syndrome XI 01-disease-subtype +MONDO:0013036 Zechi-Ceide syndrome 02-disease-root +MONDO:0013038 CLOVES syndrome 02-disease-root +MONDO:0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly 01-disease-subtype +MONDO:0013041 atypical hemolytic-uremic syndrome with I factor anomaly 01-disease-subtype +MONDO:0013042 atypical hemolytic-uremic syndrome with B factor anomaly 01-disease-subtype +MONDO:0013043 atypical hemolytic-uremic syndrome with C3 anomaly 01-disease-subtype +MONDO:0013044 atypical hemolytic-uremic syndrome with thrombomodulin anomaly 01-disease-subtype +MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency 02-disease-root +MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 01-disease-subtype +MONDO:0013048 hereditary spastic paraplegia 50 01-disease-subtype +MONDO:0013049 DPM3-CDG 01-disease-subtype +MONDO:0013050 lethal polymalformative syndrome, Boissel type 01-disease-subtype +MONDO:0013051 autosomal recessive cutis laxa type 2B 01-disease-subtype +MONDO:0013053 microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type 02-disease-root +MONDO:0013056 developmental and epileptic encephalopathy, 39 01-disease-subtype +MONDO:0013058 cystic leukoencephalopathy without megalencephaly 02-disease-root +MONDO:0013060 autosomal recessive Parkinson disease 14 01-disease-subtype +MONDO:0013061 myofibrillar myopathy 6 01-disease-subtype +MONDO:0013062 long QT syndrome 12 01-disease-subtype +MONDO:0013069 autosomal recessive optic atrophy, OPA7 type 01-disease-subtype +MONDO:0013074 encephalocraniocutaneous lipomatosis 01-disease-subtype +MONDO:0013081 lymphoproliferative syndrome 1 01-disease-subtype +MONDO:0013082 Hirschsprung disease-ganglioneuroblastoma syndrome 02-disease-root +MONDO:0013090 chromosome 19q13.11 deletion syndrome 01-disease-subtype +MONDO:0013099 combined pituitary hormone deficiencies, genetic form 02-disease-root +MONDO:0013110 neurodegenerative syndrome due to cerebral folate transport deficiency 01-disease-subtype +MONDO:0013111 acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 01-disease-subtype +MONDO:0013115 RIN2 syndrome 02-disease-root +MONDO:0013116 congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome 01-disease-subtype +MONDO:0013118 Nijmegen breakage syndrome-like disorder 02-disease-root +MONDO:0013125 CLAPO syndrome 01-disease-subtype +MONDO:0013127 asphyxiating thoracic dystrophy 3 01-disease-subtype +MONDO:0013128 familial juvenile hyperuricemic nephropathy type 2 01-disease-subtype +MONDO:0013131 polycystic kidney disease 2 01-disease-subtype +MONDO:0013132 hereditary spastic paraplegia 36 02-disease-root +MONDO:0013136 hereditary hypotrichosis with recurrent skin vesicles 02-disease-root +MONDO:0013139 neutropenia, severe congenital, 2, autosomal dominant 01-disease-subtype +MONDO:0013143 hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency 01-disease-subtype +MONDO:0013144 hereditary antithrombin deficiency 01-disease-subtype +MONDO:0013150 parkinsonism-dystonia, infantile 02-disease-root +MONDO:0013159 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 01-disease-subtype +MONDO:0013161 autosomal recessive limb-girdle muscular dystrophy type 2O 01-disease-subtype +MONDO:0013162 autosomal recessive limb-girdle muscular dystrophy type 2N 01-disease-subtype +MONDO:0013164 beta-ureidopropionase deficiency 01-disease-subtype +MONDO:0013165 hereditary spastic paraplegia 45 02-disease-root +MONDO:0013166 GABA aminotransferase deficiency 01-disease-subtype +MONDO:0013169 chromosome 5p13 duplication syndrome 01-disease-subtype +MONDO:0013170 cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies 02-disease-root +MONDO:0013171 purine nucleoside phosphorylase deficiency 01-disease-subtype +MONDO:0013172 polymicrogyria with optic nerve hypoplasia 01-disease-subtype +MONDO:0013173 intellectual disability, autosomal recessive 13 01-disease-subtype +MONDO:0013176 Weill-Marchesani 4 syndrome, recessive 01-disease-subtype +MONDO:0013177 congenital muscular dystrophy due to integrin alpha-7 deficiency 01-disease-subtype +MONDO:0013178 congenital muscular dystrophy due to LMNA mutation 02-disease-root +MONDO:0013179 hereditary spastic paraplegia 44 02-disease-root +MONDO:0013182 chromosome 17p13.3 duplication syndrome 01-disease-subtype +MONDO:0013184 congenital diarrhea 5 with tufting enteropathy 01-disease-subtype +MONDO:0013187 factor XIII, A subunit, deficiency of 01-disease-subtype +MONDO:0013196 colorectal cancer, hereditary nonpolyposis, type 8 01-disease-subtype +MONDO:0013208 cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome 01-disease-subtype +MONDO:0013212 Charcot-Marie-Tooth disease axonal type 2N 01-disease-subtype +MONDO:0013220 hemochromatosis type 2B 01-disease-subtype +MONDO:0013222 Miyoshi muscular dystrophy 3 01-disease-subtype +MONDO:0013223 autosomal recessive spondylometaphyseal dysplasia, Megarbane type 02-disease-root +MONDO:0013225 congenital generalized lipodystrophy type 4 01-disease-subtype +MONDO:0013226 combined immunodeficiency with faciooculoskeletal anomalies 02-disease-root +MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency 02-disease-root +MONDO:0013228 spondylo-megaepiphyseal-metaphyseal dysplasia 01-disease-subtype +MONDO:0013232 brachydactylous dwarfism, Mseleni type 01-disease-subtype +MONDO:0013233 spondyloepimetaphyseal dysplasia, Handigodu type 01-disease-subtype +MONDO:0013238 chromosome 17q23.1-q23.2 deletion syndrome 01-disease-subtype +MONDO:0013239 hereditary spastic paraplegia 41 01-disease-subtype +MONDO:0013241 spinocerebellar ataxia type 30 01-disease-subtype +MONDO:0013245 syndromic multisystem autoimmune disease due to ITCH deficiency 02-disease-root +MONDO:0013251 Birbeck granule deficiency 02-disease-root +MONDO:0013252 Warsaw breakage syndrome 02-disease-root +MONDO:0013254 microcephaly, seizures, and developmental delay 01-disease-subtype +MONDO:0013256 chromosome 15q24 deletion syndrome 01-disease-subtype +MONDO:0013267 distal 16p11.2 microdeletion syndrome 01-disease-subtype +MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly 01-disease-subtype +MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome 01-disease-subtype +MONDO:0013272 chromosome 14q11-q22 deletion syndrome 01-disease-subtype +MONDO:0013273 chromosome 16p13.3 duplication syndrome 01-disease-subtype +MONDO:0013275 hemolytic anemia due to glucophosphate isomerase deficiency 01-disease-subtype +MONDO:0013276 Reynolds syndrome 02-disease-root +MONDO:0013279 long QT syndrome 13 01-disease-subtype +MONDO:0013281 COG4-CDG 01-disease-subtype +MONDO:0013282 alpha 1-antitrypsin deficiency 01-disease-subtype +MONDO:0013284 immunodeficiency, common variable, 4 01-disease-subtype +MONDO:0013286 immunodeficiency, common variable, 6 01-disease-subtype +MONDO:0013291 glycogen storage disease XV 02-disease-root +MONDO:0013292 chromosome 4q21 deletion syndrome 01-disease-subtype +MONDO:0013297 autosomal dominant limb-girdle muscular dystrophy type 1H 01-disease-subtype +MONDO:0013298 chromosome 17q21.31 duplication syndrome 01-disease-subtype +MONDO:0013300 commissural facial cleft 01-disease-subtype +MONDO:0013301 aromatase deficiency 01-disease-subtype +MONDO:0013302 nephronophthisis 11 01-disease-subtype +MONDO:0013304 von Willebrand disease 2 01-disease-subtype +MONDO:0013306 combined oxidative phosphorylation defect type 7 01-disease-subtype +MONDO:0013308 CBL-related disorder 02-disease-root +MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency 01-disease-subtype +MONDO:0013311 ectodermal dysplasia-syndactyly syndrome 02-disease-root +MONDO:0013313 ectodermal dysplasia-cutaneous syndactyly syndrome 01-disease-subtype +MONDO:0013316 occult macular dystrophy 01-disease-subtype +MONDO:0013317 torsade-de-pointes syndrome with short coupling interval 02-disease-root +MONDO:0013320 chromosome 16p12.2-p11.2 deletion syndrome 01-disease-subtype +MONDO:0013324 lymphedema-posterior choanal atresia syndrome 01-disease-subtype +MONDO:0013325 COG5-CDG 01-disease-subtype +MONDO:0013327 primary hyperoxaluria type 3 01-disease-subtype +MONDO:0013329 familial clubfoot due to 17q23.1q23.2 microduplication 01-disease-subtype +MONDO:0013334 cocoon syndrome 02-disease-root +MONDO:0013336 chromosome 19p13.13 deletion syndrome 01-disease-subtype +MONDO:0013338 Charcot-Marie-Tooth disease recessive intermediate B 01-disease-subtype +MONDO:0013341 methylmalonic acidemia due to transcobalamin receptor defect 01-disease-subtype +MONDO:0013342 hereditary spastic paraplegia 48 01-disease-subtype +MONDO:0013343 C1Q deficiency 01-disease-subtype +MONDO:0013349 ALG11-CDG 01-disease-subtype +MONDO:0013351 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly 02-disease-root +MONDO:0013352 intellectual disability-severe speech delay-mild dysmorphism syndrome 02-disease-root +MONDO:0013354 spastic ataxia 4 02-disease-root +MONDO:0013355 congenital dyserythropoietic anemia type 4 01-disease-subtype +MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb 01-disease-subtype +MONDO:0013359 familial hyperaldosteronism type III 01-disease-subtype +MONDO:0013360 brachyolmia, Maroteaux type 01-disease-subtype +MONDO:0013361 congenital prothrombin deficiency 01-disease-subtype +MONDO:0013362 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome 02-disease-root +MONDO:0013364 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 01-disease-subtype +MONDO:0013368 mammary-digital-nail syndrome 01-disease-subtype +MONDO:0013372 long QT syndrome 5 01-disease-subtype +MONDO:0013382 progressive demyelinating neuropathy with bilateral striatal necrosis 01-disease-subtype +MONDO:0013389 developmental and epileptic encephalopathy, 12 01-disease-subtype +MONDO:0013390 autosomal recessive limb-girdle muscular dystrophy type 2Q 01-disease-subtype +MONDO:0013391 sterol carrier protein 2 deficiency 01-disease-subtype +MONDO:0013392 autosomal recessive spinocerebellar ataxia 10 01-disease-subtype +MONDO:0013393 distal 7q11.23 microdeletion syndrome 01-disease-subtype +MONDO:0013394 porencephaly-microcephaly-bilateral congenital cataract syndrome 02-disease-root +MONDO:0013396 chromosome 1p32-p31 deletion syndrome 01-disease-subtype +MONDO:0013400 Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency 01-disease-subtype +MONDO:0013401 hereditary spastic paraplegia 51 01-disease-subtype +MONDO:0013404 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase 01-disease-subtype +MONDO:0013408 FADD-related immunodeficiency 02-disease-root +MONDO:0013411 cataract 16 multiple types 01-disease-subtype +MONDO:0013415 chromosome 17p13.1 deletion syndrome 01-disease-subtype +MONDO:0013417 complement component 3 deficiency 01-disease-subtype +MONDO:0013419 complement component C1s deficiency 01-disease-subtype +MONDO:0013421 type II complement component 8 deficiency 01-disease-subtype +MONDO:0013423 immunodeficiency due to MASP-2 deficiency 02-disease-root +MONDO:0013424 3p- syndrome 01-disease-subtype +MONDO:0013426 aneurysm-osteoarthritis syndrome 01-disease-subtype +MONDO:0013439 congenital bile acid synthesis defect 3 01-disease-subtype +MONDO:0013440 autosomal recessive limb-girdle muscular dystrophy type 2P 01-disease-subtype +MONDO:0013452 multisystemic smooth muscle dysfunction syndrome 02-disease-root +MONDO:0013456 constitutional megaloblastic anemia with severe neurologic disease 01-disease-subtype +MONDO:0013458 hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome 01-disease-subtype +MONDO:0013461 inosine triphosphatase deficiency 02-disease-root +MONDO:0013462 fucosyltransferase 6 deficiency 02-disease-root +MONDO:0013464 episodic ataxia type 5 01-disease-subtype +MONDO:0013467 immunodeficiency due to ficolin3 deficiency 02-disease-root +MONDO:0013472 fatal infantile hypertonic myofibrillar myopathy 01-disease-subtype +MONDO:0013474 hypertrophic cardiomyopathy 17 02-disease-root +MONDO:0013477 hypertrophic cardiomyopathy 20 02-disease-root +MONDO:0013478 PLIN1-related familial partial lipodystrophy 01-disease-subtype +MONDO:0013481 chromosome 13q14 deletion syndrome 01-disease-subtype +MONDO:0013483 obesity, hyperphagia, and developmental delay 02-disease-root +MONDO:0013485 spinocerebellar ataxia type 35 01-disease-subtype +MONDO:0013486 spinocerebellar ataxia type 32 01-disease-subtype +MONDO:0013487 recurrent Neisseria infections due to factor D deficiency 02-disease-root +MONDO:0013497 Okt4 epitope deficiency 02-disease-root +MONDO:0013499 Fanconi anemia complementation group P 01-disease-subtype +MONDO:0013500 immunodeficiency 51 01-disease-subtype +MONDO:0013511 cyanosis, transient neonatal 02-disease-root +MONDO:0013512 hemoglobin H disease 01-disease-subtype +MONDO:0013517 beta-thalassemia HBB/LCRB 01-disease-subtype +MONDO:0013521 dyskeratosis congenita, autosomal dominant 2 01-disease-subtype +MONDO:0013523 Nestor-Guillermo progeria syndrome 01-disease-subtype +MONDO:0013524 bleeding diathesis due to thromboxane synthesis deficiency 01-disease-subtype +MONDO:0013526 progressive myoclonic epilepsy type 6 01-disease-subtype +MONDO:0013531 PSPH deficiency 01-disease-subtype +MONDO:0013532 protein Z deficiency 02-disease-root +MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency 01-disease-subtype +MONDO:0013536 heme oxygenase 1 deficiency 02-disease-root +MONDO:0013539 hypotonia-failure to thrive-microcephaly syndrome 02-disease-root +MONDO:0013540 deafness-lymphedema-leukemia syndrome 01-disease-subtype +MONDO:0013541 complex cortical dysplasia with other brain malformations 1 01-disease-subtype +MONDO:0013543 trypsinogen deficiency 02-disease-root +MONDO:0013546 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 02-disease-root +MONDO:0013548 acetyl-CoA acetyltransferase-2 deficiency 02-disease-root +MONDO:0013549 N-acetylaspartate deficiency 02-disease-root +MONDO:0013550 distal myopathy with posterior leg and anterior hand involvement 02-disease-root +MONDO:0013551 hereditary spastic paraplegia 47 01-disease-subtype +MONDO:0013552 hereditary spastic paraplegia 52 01-disease-subtype +MONDO:0013555 Hermansky-Pudlak syndrome 3 01-disease-subtype +MONDO:0013559 Hermansky-Pudlak syndrome 7 01-disease-subtype +MONDO:0013560 Hermansky-Pudlak syndrome 8 01-disease-subtype +MONDO:0013561 chondrodysplasia with joint dislocations, gPAPP type 02-disease-root +MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 01-disease-subtype +MONDO:0013564 anhaptoglobinemia 02-disease-root +MONDO:0013566 Fanconi anemia complementation group L 01-disease-subtype +MONDO:0013570 combined oxidative phosphorylation defect type 8 02-disease-root +MONDO:0013572 Keppen-Lubinsky syndrome 01-disease-subtype +MONDO:0013574 cutis laxa - Marfanoid syndrome 02-disease-root +MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency 02-disease-root +MONDO:0013577 Lipedema 02-disease-root +MONDO:0013578 DYRK1A-related intellectual disability syndrome 02-disease-root +MONDO:0013579 methylmalonate semialdehyde dehydrogenase deficiency 01-disease-subtype +MONDO:0013580 pyruvate dehydrogenase E1-beta deficiency 01-disease-subtype +MONDO:0013583 occipital pachygyria and polymicrogyria 02-disease-root +MONDO:0013585 hydrolethalus syndrome 2 01-disease-subtype +MONDO:0013587 glycogen storage disease due to lactate dehydrogenase H-subunit deficiency 01-disease-subtype +MONDO:0013594 spinocerebellar ataxia type 36 01-disease-subtype +MONDO:0013595 hyperbiliverdinemia 02-disease-root +MONDO:0013598 myostatin-related muscle hypertrophy 02-disease-root +MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome 01-disease-subtype +MONDO:0013606 Hermansky-Pudlak syndrome 9 01-disease-subtype +MONDO:0013607 monocytopenia with susceptibility to infections 02-disease-root +MONDO:0013614 hypertelorism-preauricular sinus-punctual pits-deafness syndrome 02-disease-root +MONDO:0013615 craniosynostosis and dental anomalies 02-disease-root +MONDO:0013618 craniofacial anomalies and anterior segment dysgenesis syndrome 02-disease-root +MONDO:0013621 LAMB2-related infantile-onset nephrotic syndrome 01-disease-subtype +MONDO:0013622 platelet-type bleeding disorder 9 01-disease-subtype +MONDO:0013623 platelet-type bleeding disorder 11 01-disease-subtype +MONDO:0013626 psoriasis 14, pustular 01-disease-subtype +MONDO:0013640 familial retinal arterial macroaneurysm 02-disease-root +MONDO:0013644 Charcot-Marie-Tooth disease axonal type 2O 01-disease-subtype +MONDO:0013645 autosomal recessive spinocerebellar ataxia 11 01-disease-subtype +MONDO:0013646 chromosome 8q21.11 deletion syndrome 01-disease-subtype +MONDO:0013648 familial progressive hyperpigmentation 02-disease-root +MONDO:0013655 intellectual disability, autosomal dominant 8 02-disease-root +MONDO:0013656 intellectual disability, autosomal dominant 9 01-disease-subtype +MONDO:0013659 microcephaly-capillary malformation syndrome 02-disease-root +MONDO:0013660 arthrogryposis, Perthes disease, and upward gaze palsy 02-disease-root +MONDO:0013661 combined malonic and methylmalonic acidemia 01-disease-subtype +MONDO:0013668 tetrasomy 18p 01-disease-subtype +MONDO:0013674 neurodegeneration with brain iron accumulation 4 01-disease-subtype +MONDO:0013675 multiple mitochondrial dysfunctions syndrome 2 01-disease-subtype +MONDO:0013678 EDICT syndrome 01-disease-subtype +MONDO:0013680 cognitive impairment with or without cerebellar ataxia 02-disease-root +MONDO:0013687 autosomal recessive spinocerebellar ataxia 12 01-disease-subtype +MONDO:0013688 linear and whorled nevoid hypermelanosis 01-disease-subtype +MONDO:0013691 Feingold syndrome type 2 01-disease-subtype +MONDO:0013692 BAP1-related tumor predisposition syndrome 02-disease-root +MONDO:0013700 pancreatic triacylglycerol lipase deficiency 01-disease-subtype +MONDO:0013702 intellectual disability, autosomal recessive 27 01-disease-subtype +MONDO:0013711 peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome 01-disease-subtype +MONDO:0013726 encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 01-disease-subtype +MONDO:0013730 graft versus host disease 02-disease-root +MONDO:0013731 MEGF10-Related Myopathy 01-disease-subtype +MONDO:0013732 glucocorticoid therapy, response to 02-disease-root +MONDO:0013735 microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome 02-disease-root +MONDO:0013737 hereditary spastic paraplegia 46 02-disease-root +MONDO:0013740 lethal occipital encephalocele-skeletal dysplasia syndrome 02-disease-root +MONDO:0013742 familial mesial temporal lobe epilepsy with febrile seizures 01-disease-subtype +MONDO:0013743 autosomal systemic lupus erythematosus type 16 01-disease-subtype +MONDO:0013746 ventricular septal defect 1 01-disease-subtype +MONDO:0013747 atrioventricular septal defect 4 01-disease-subtype +MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P 01-disease-subtype +MONDO:0013755 PYCR1-related de Barsy syndrome 01-disease-subtype +MONDO:0013758 Charcot-Marie-Tooth disease dominant intermediate E 01-disease-subtype +MONDO:0013759 melanoma, cutaneous malignant, susceptibility to, 8 02-disease-root +MONDO:0013760 congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome 01-disease-subtype +MONDO:0013761 childhood encephalopathy due to thiamine pyrophosphokinase deficiency 01-disease-subtype +MONDO:0013762 lipoic acid synthetase deficiency 01-disease-subtype +MONDO:0013767 autoimmune lymphoproliferative syndrome type 4 01-disease-subtype +MONDO:0013771 transient infantile hypertriglyceridemia and hepatosteatosis 01-disease-subtype +MONDO:0013772 congenital cataract-hearing loss-severe developmental delay syndrome 01-disease-subtype +MONDO:0013775 thrombomodulin-related bleeding disorder 01-disease-subtype +MONDO:0013776 spastic ataxia 5 01-disease-subtype +MONDO:0013777 pseudohypoaldosteronism type 2B 01-disease-subtype +MONDO:0013778 pseudohypoaldosteronism type 2C 01-disease-subtype +MONDO:0013781 pseudohypoaldosteronism type 2D 01-disease-subtype +MONDO:0013782 pseudohypoaldosteronism type 2E 01-disease-subtype +MONDO:0013789 DDOST-CDG 01-disease-subtype +MONDO:0013796 chromosome 17q12 duplication syndrome 01-disease-subtype +MONDO:0013797 chromosome 17q12 deletion syndrome 01-disease-subtype +MONDO:0013800 Ehlers-Danlos syndrome, kyphoscoliotic and deafness type 01-disease-subtype +MONDO:0013802 infantile cerebellar-retinal degeneration 01-disease-subtype +MONDO:0013806 familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome 02-disease-root +MONDO:0013808 Maffucci syndrome 01-disease-subtype +MONDO:0013809 cerebellar ataxia, neuropathy, and vestibular areflexia syndrome 02-disease-root +MONDO:0013810 COG6-CGD 01-disease-subtype +MONDO:0013811 combined oxidative phosphorylation defect type 9 02-disease-root +MONDO:0013813 dystonia 21 01-disease-subtype +MONDO:0013815 FGFR2-related bent bone dysplasia 01-disease-subtype +MONDO:0013824 Joubert syndrome 17 01-disease-subtype +MONDO:0013825 congenital diarrhea 6 01-disease-subtype +MONDO:0013836 familial steroid-resistant nephrotic syndrome with sensorineural deafness 01-disease-subtype +MONDO:0013837 deafness-encephaloneuropathy-obesity-valvulopathy syndrome 01-disease-subtype +MONDO:0013839 hereditary sensory and autonomic neuropathy type 6 01-disease-subtype +MONDO:0013840 encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome 01-disease-subtype +MONDO:0013843 intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency 01-disease-subtype +MONDO:0013847 chromosome 16p11.2 duplication syndrome 01-disease-subtype +MONDO:0013851 autosomal dominant aplasia and myelodysplasia 01-disease-subtype +MONDO:0013860 idiopathic membranous glomerulonephritis 01-disease-subtype +MONDO:0013862 immunodeficiency, common variable, 7 01-disease-subtype +MONDO:0013865 mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 02-disease-root +MONDO:0013866 neuronal ceroid lipofuscinosis 11 01-disease-subtype +MONDO:0013869 adenine phosphoribosyltransferase deficiency 01-disease-subtype +MONDO:0013870 TMEM165-CDG 01-disease-subtype +MONDO:0013873 IMAGe syndrome 02-disease-root +MONDO:0013875 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 01-disease-subtype +MONDO:0013877 mitochondrial pyruvate carrier deficiency 01-disease-subtype +MONDO:0013881 congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome 01-disease-subtype +MONDO:0013885 Malan overgrowth syndrome 01-disease-subtype +MONDO:0013886 nonprogressive cerebellar atxia with intellectual disability 01-disease-subtype +MONDO:0013889 short stature-optic atrophy-Pelger-HuC+t anomaly syndrome 02-disease-root +MONDO:0013890 congenital myopathy with internal nuclei and atypical cores 01-disease-subtype +MONDO:0013891 amyotrophic lateral sclerosis type 18 01-disease-subtype +MONDO:0013892 C3 glomerulonephritis 01-disease-subtype +MONDO:0013894 short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome 02-disease-root +MONDO:0013898 karyomegalic interstitial nephritis 01-disease-subtype +MONDO:0013904 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 01-disease-subtype +MONDO:0013905 autosomal recessive spinocerebellar ataxia 13 01-disease-subtype +MONDO:0013906 amelogenesis imperfecta hypomaturation type 2A4 01-disease-subtype +MONDO:0013907 bilateral generalized polymicrogyria 01-disease-subtype +MONDO:0013918 distal tetrasomy 15q 01-disease-subtype +MONDO:0013920 herpes simplex encephalitis, susceptibility to, 3 01-disease-subtype +MONDO:0013921 herpes simplex encephalitis, susceptibility to, 4 01-disease-subtype +MONDO:0013922 Seckel syndrome 7 01-disease-subtype +MONDO:0013925 methylmalonic acidemia with homocystinuria, type cblJ 01-disease-subtype +MONDO:0013928 dystonia 23 01-disease-subtype +MONDO:0013931 peroxisome biogenesis disorder 4B 01-disease-subtype +MONDO:0013934 combined immunodeficiency due to STK4 deficiency 02-disease-root +MONDO:0013937 peroxisome biogenesis disorder 6B 01-disease-subtype +MONDO:0013941 metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria 02-disease-root +MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation 02-disease-root +MONDO:0013947 young adult-onset distal hereditary motor neuropathy 01-disease-subtype +MONDO:0013953 immunodeficiency 28 03-disease-area +MONDO:0013959 Charcot-Marie-Tooth disease type 4F 01-disease-subtype +MONDO:0013960 sinoatrial node dysfunction and deafness 02-disease-root +MONDO:0013962 hereditary spastic paraplegia 53 02-disease-root +MONDO:0013968 PGM1-CDG 01-disease-subtype +MONDO:0013969 combined oxidative phosphorylation defect type 11 02-disease-root +MONDO:0013970 branched-chain keto acid dehydrogenase kinase deficiency 01-disease-subtype +MONDO:0013971 leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome 02-disease-root +MONDO:0013972 Perrault syndrome 2 01-disease-subtype +MONDO:0013977 combined oxidative phosphorylation defect type 13 02-disease-root +MONDO:0013981 myoclonus, familial 02-disease-root +MONDO:0013986 combined oxidative phosphorylation defect type 14 02-disease-root +MONDO:0013987 combined oxidative phosphorylation defect type 15 02-disease-root +MONDO:0013989 developmental and epileptic encephalopathy, 14 01-disease-subtype +MONDO:0013990 pontocerebellar hypoplasia type 8 01-disease-subtype +MONDO:0013991 obesity due to congenital leptin deficiency 01-disease-subtype +MONDO:0013992 obesity due to leptin receptor gene deficiency 01-disease-subtype +MONDO:0013993 pontocerebellar hypoplasia type 7 01-disease-subtype +MONDO:0013996 focal facial dermal dysplasia type II 01-disease-subtype +MONDO:0013997 focal facial dermal dysplasia type IV 01-disease-subtype +MONDO:0013999 optic nerve edema-splenomegaly syndrome 02-disease-root +MONDO:0014002 autosomal dominant nocturnal frontal lobe epilepsy 5 01-disease-subtype +MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis 01-disease-subtype +MONDO:0014006 Schuurs-Hoeijmakers syndrome 02-disease-root +MONDO:0014008 phosphohydroxylysinuria 02-disease-root +MONDO:0014012 Charcot-Marie-Tooth disease axonal type 2Q 01-disease-subtype +MONDO:0014013 maternal riboflavin deficiency 01-disease-subtype +MONDO:0014015 hereditary spastic paraplegia 56 01-disease-subtype +MONDO:0014016 hereditary spastic paraplegia 49 02-disease-root +MONDO:0014018 hereditary spastic paraplegia 54 02-disease-root +MONDO:0014020 hereditary spastic paraplegia 55 01-disease-subtype +MONDO:0014021 familial episodic pain syndrome with predominantly upper body involvement 01-disease-subtype +MONDO:0014023 congenital muscular dystrophy with intellectual disability and severe epilepsy 01-disease-subtype +MONDO:0014024 hereditary spastic paraplegia 43 02-disease-root +MONDO:0014025 lower motor neuron syndrome with late-adult onset 01-disease-subtype +MONDO:0014028 distal arthrogryposis type 5D 01-disease-subtype +MONDO:0014031 microcephalic primordial dwarfism, Alazami type 02-disease-root +MONDO:0014033 dystonia 25 01-disease-subtype +MONDO:0014034 severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 02-disease-root +MONDO:0014035 severe intellectual disability-progressive spastic diplegia syndrome 02-disease-root +MONDO:0014039 mitochondrial DNA depletion syndrome 11 01-disease-subtype +MONDO:0014043 microcephalic primordial dwarfism due to ZNF335 deficiency 01-disease-subtype +MONDO:0014044 dysmorphism-conductive hearing loss-heart defect syndrome 02-disease-root +MONDO:0014052 congenital myasthenic syndrome 8 01-disease-subtype +MONDO:0014058 facial dysmorphism-immunodeficiency-livedo-short stature syndrome 02-disease-root +MONDO:0014060 progressive retinal dystrophy due to retinol transport defect 01-disease-subtype +MONDO:0014061 Steel syndrome 02-disease-root +MONDO:0014062 mitochondrial DNA deletion syndrome with progressive myopathy 01-disease-subtype +MONDO:0014067 short ulna-dysmorphism-hypotonia-intellectual disability syndrome 02-disease-root +MONDO:0014069 syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome 02-disease-root +MONDO:0014070 oculocutaneous albinism type 7 01-disease-subtype +MONDO:0014072 D,L-2-hydroxyglutaric aciduria 01-disease-subtype +MONDO:0014074 Charcot-Marie-Tooth disease dominant intermediate F 01-disease-subtype +MONDO:0014076 dyskeratosis congenita, autosomal recessive 5 01-disease-subtype +MONDO:0014077 cobblestone lissencephaly without muscular or ocular involvement 01-disease-subtype +MONDO:0014078 platelet-type bleeding disorder 15 01-disease-subtype +MONDO:0014080 osteosclerotic metaphyseal dysplasia 01-disease-subtype +MONDO:0014081 severe combined immunodeficiency due to CARD11 deficiency 01-disease-subtype +MONDO:0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome 02-disease-root +MONDO:0014089 corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome 01-disease-subtype +MONDO:0014094 severe congenital hypochromic anemia with ringed sideroblasts 01-disease-subtype +MONDO:0014096 microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome 02-disease-root +MONDO:0014097 congenital short bowel syndrome 01-disease-subtype +MONDO:0014101 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 01-disease-subtype +MONDO:0014109 NGLY1-deficiency 02-disease-root +MONDO:0014115 hypomyelination with brain stem and spinal cord involvement and leg spasticity 02-disease-root +MONDO:0014117 Charcot-Marie-Tooth disease type 4B3 01-disease-subtype +MONDO:0014118 congenital neutropenia-myelofibrosis-nephromegaly syndrome 01-disease-subtype +MONDO:0014119 intellectual disability-strabismus syndrome 02-disease-root +MONDO:0014121 autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures 01-disease-subtype +MONDO:0014127 oculocutaneous albinism type 5 01-disease-subtype +MONDO:0014128 TCF12-related craniosynostosis 01-disease-subtype +MONDO:0014131 hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome 01-disease-subtype +MONDO:0014132 multiple mitochondrial dysfunctions syndrome 3 01-disease-subtype +MONDO:0014137 precocious puberty, central, 2 01-disease-subtype +MONDO:0014138 nemaline myopathy 8 01-disease-subtype +MONDO:0014142 autosomal recessive limb-girdle muscular dystrophy type 2T 01-disease-subtype +MONDO:0014144 autosomal recessive limb-girdle muscular dystrophy type R18 01-disease-subtype +MONDO:0014147 neuronal ceroid lipofuscinosis 13 01-disease-subtype +MONDO:0014149 fetal akinesia-cerebral and retinal hemorrhage syndrome 01-disease-subtype +MONDO:0014154 Charcot-Marie-Tooth disease recessive intermediate C 01-disease-subtype +MONDO:0014157 mandibular hypoplasia-deafness-progeroid syndrome 02-disease-root +MONDO:0014158 nephronophthisis 16 01-disease-subtype +MONDO:0014159 autosomal recessive spinocerebellar ataxia 14 01-disease-subtype +MONDO:0014160 TCR-alpha-beta-positive T-cell deficiency 02-disease-root +MONDO:0014162 infantile hypertrophic cardiomyopathy due to MRPL44 deficiency 02-disease-root +MONDO:0014165 multiple congenital anomalies-hypotonia-seizures syndrome 3 01-disease-subtype +MONDO:0014168 severe combined immunodeficiency due to CORO1A deficiency 01-disease-subtype +MONDO:0014175 mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive 01-disease-subtype +MONDO:0014176 hypotonia, infantile, with psychomotor retardation and characteristic facies 02-disease-root +MONDO:0014180 epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency 01-disease-subtype +MONDO:0014185 chromosome 3q13.31 deletion syndrome 01-disease-subtype +MONDO:0014190 combined oxidative phosphorylation defect type 17 02-disease-root +MONDO:0014195 microcornea-myopic chorioretinal atrophy 02-disease-root +MONDO:0014196 Hartsfield-Bixler-Demyer syndrome 02-disease-root +MONDO:0014197 combined immunodeficiency due to MALT1 deficiency 02-disease-root +MONDO:0014198 mitochondrial DNA depletion syndrome 13 01-disease-subtype +MONDO:0014200 aldosterone-producing adenoma with seizures and neurological abnormalities 01-disease-subtype +MONDO:0014201 developmental and epileptic encephalopathy, 18 01-disease-subtype +MONDO:0014205 severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 02-disease-root +MONDO:0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency 01-disease-subtype +MONDO:0014208 Charcot-Marie-Tooth disease type 2R 01-disease-subtype +MONDO:0014209 early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome 02-disease-root +MONDO:0014210 intellectual disability-hypotonia-spasticity-sleep disorder syndrome 02-disease-root +MONDO:0014212 sulfite oxidase deficiency due to molybdenum cofactor deficiency type C 01-disease-subtype +MONDO:0014213 intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome 02-disease-root +MONDO:0014218 severe dermatitis-multiple allergies-metabolic wasting syndrome 01-disease-subtype +MONDO:0014221 triosephosphate isomerase deficiency 01-disease-subtype +MONDO:0014224 developmental delay with autism spectrum disorder and gait instability 02-disease-root +MONDO:0014225 hemochromatosis type 5 01-disease-subtype +MONDO:0014226 idiopathic CD4 lymphocytopenia 02-disease-root +MONDO:0014227 hypopigmentation-punctate palmoplantar keratoderma syndrome 02-disease-root +MONDO:0014234 reticulate acropigmentation of Kitamura 01-disease-subtype +MONDO:0014238 severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome 02-disease-root +MONDO:0014243 Schaaf-Yang syndrome 01-disease-subtype +MONDO:0014244 hereditary sensory and autonomic neuropathy type 7 01-disease-subtype +MONDO:0014247 familial episodic pain syndrome with predominantly lower limb involvement 01-disease-subtype +MONDO:0014248 autism spectrum disorder - epilepsy - arthrogryposis syndrome 01-disease-subtype +MONDO:0014250 familial hyperprolactinemia 01-disease-subtype +MONDO:0014252 familial hypobetalipoproteinemia 1 01-disease-subtype +MONDO:0014258 congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome 01-disease-subtype +MONDO:0014260 immunodeficiency, common variable, 10 01-disease-subtype +MONDO:0014261 growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome 02-disease-root +MONDO:0014263 8q24.3 microdeletion syndrome 01-disease-subtype +MONDO:0014267 severe combined immunodeficiency due to IKK2 deficiency 01-disease-subtype +MONDO:0014270 STT3A-CDG 01-disease-subtype +MONDO:0014271 STT3B-CDG 01-disease-subtype +MONDO:0014272 palmoplantar keratoderma, Nagashima type 01-disease-subtype +MONDO:0014273 microcephaly-thin corpus callosum-intellectual disability syndrome 02-disease-root +MONDO:0014274 L-ferritin deficiency 02-disease-root +MONDO:0014276 combined immunodeficiency due to CD3gamma deficiency 02-disease-root +MONDO:0014278 immunodeficiency 18 01-disease-subtype +MONDO:0014282 hereditary spastic paraplegia 72 01-disease-subtype +MONDO:0014284 short-rib thoracic dysplasia 10 with or without polydactyly 01-disease-subtype +MONDO:0014286 neuropathy, hereditary sensory, type 1F 01-disease-subtype +MONDO:0014289 macrocephaly-developmental delay syndrome 02-disease-root +MONDO:0014290 neurodegeneration with brain iron accumulation 6 01-disease-subtype +MONDO:0014292 leukoencephalopathy with mild cerebellar ataxia and white matter edema 02-disease-root +MONDO:0014294 chromosome 15q11.2 deletion syndrome 01-disease-subtype +MONDO:0014300 proximal myopathy with extrapyramidal signs 02-disease-root +MONDO:0014302 hereditary spastic paraplegia 62 01-disease-subtype +MONDO:0014303 hereditary spastic paraplegia 64 02-disease-root +MONDO:0014304 hereditary spastic paraplegia 61 02-disease-root +MONDO:0014305 hereditary spastic paraplegia 63 02-disease-root +MONDO:0014306 vasculitis due to ADA2 deficiency 01-disease-subtype +MONDO:0014309 obesity due to CEP19 deficiency 01-disease-subtype +MONDO:0014310 hereditary sclerosing poikiloderma with tendon and pulmonary involvement 02-disease-root +MONDO:0014311 autosomal recessive spinocerebellar ataxia 15 01-disease-subtype +MONDO:0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity 02-disease-root +MONDO:0014314 sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome 02-disease-root +MONDO:0014317 pancytopenia-developmental delay syndrome 01-disease-subtype +MONDO:0014320 Bosch-Boonstra-Schaaf optic atrophy syndrome 02-disease-root +MONDO:0014326 nemaline myopathy 9 01-disease-subtype +MONDO:0014327 palmoplantar keratoderma, nonepidermolytic, focal or diffuse 02-disease-root +MONDO:0014331 Moyamoya disease with early-onset achalasia 01-disease-subtype +MONDO:0014332 hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency 01-disease-subtype +MONDO:0014334 severe combined immunodeficiency due to LCK deficiency 01-disease-subtype +MONDO:0014335 diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome 02-disease-root +MONDO:0014336 intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 02-disease-root +MONDO:0014342 female infertility due to zona pellucida defect 01-disease-subtype +MONDO:0014347 short stature with microcephaly and distinctive facies 02-disease-root +MONDO:0014349 pontocerebellar hypoplasia type 10 01-disease-subtype +MONDO:0014351 pontocerebellar hypoplasia type 9 01-disease-subtype +MONDO:0014353 immunodeficiency 23 01-disease-subtype +MONDO:0014361 autism spectrum disorder due to AUTS2 deficiency 02-disease-root +MONDO:0014368 melanoma, cutaneous malignant, susceptibility to, 10 01-disease-subtype +MONDO:0014369 postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 01-disease-subtype +MONDO:0014375 congenital diarrhea 7 with exudative enteropathy 01-disease-subtype +MONDO:0014379 ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 02-disease-root +MONDO:0014382 tall stature-intellectual disability-facial dysmorphism syndrome 02-disease-root +MONDO:0014386 platelet-type bleeding disorder 18 01-disease-subtype +MONDO:0014388 familial median cleft of the upper and lower lips 01-disease-subtype +MONDO:0014389 polyglucosan body myopathy 1 with or without immunodeficiency 01-disease-subtype +MONDO:0014391 severe combined immunodeficiency due to CTPS1 deficiency 01-disease-subtype +MONDO:0014397 combined oxidative phosphorylation defect type 20 02-disease-root +MONDO:0014401 tall stature-scoliosis-macrodactyly of the great toes syndrome 02-disease-root +MONDO:0014402 severe neurodegenerative syndrome with lipodystrophy 01-disease-subtype +MONDO:0014403 short stature due to GHSR deficiency 02-disease-root +MONDO:0014404 Webb-Dattani syndrome 02-disease-root +MONDO:0014405 STING-associated vasculopathy with onset in infancy 01-disease-subtype +MONDO:0014410 spinocerebellar ataxia type 37 01-disease-subtype +MONDO:0014413 orofaciodigital syndrome type 14 01-disease-subtype +MONDO:0014415 kallikrein, decreased urinary activity of 02-disease-root +MONDO:0014418 myopathy, centronuclear, 5 01-disease-subtype +MONDO:0014419 ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 02-disease-root +MONDO:0014420 short stature due to primary acid-labile subunit deficiency 01-disease-subtype +MONDO:0014421 glucocorticoid resistance 02-disease-root +MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency 01-disease-subtype +MONDO:0014428 autosomal recessive nonsyndromic hearing loss 102 01-disease-subtype +MONDO:0014449 congenital analbuminemia 02-disease-root +MONDO:0014450 breasts and/or nipples, aplasia or hypoplasia of, 2 01-disease-subtype +MONDO:0014452 familial dysfibrinogenemia 01-disease-subtype +MONDO:0014454 Hennekam lymphangiectasia-lymphedema syndrome 2 01-disease-subtype +MONDO:0014455 cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome 01-disease-subtype +MONDO:0014464 progressive encephalopathy with leukodystrophy due to DECR deficiency 01-disease-subtype +MONDO:0014470 autosomal dominant nonsyndromic hearing loss 65 01-disease-subtype +MONDO:0014471 mitochondrial proton-transporting ATP synthase complex deficiency 02-disease-root +MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome 02-disease-root +MONDO:0014474 autosomal recessive limb-girdle muscular dystrophy type 2U 01-disease-subtype +MONDO:0014476 episodic ataxia type 8 01-disease-subtype +MONDO:0014483 retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies 02-disease-root +MONDO:0014487 congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome 01-disease-subtype +MONDO:0014493 autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency 01-disease-subtype +MONDO:0014497 polyendocrine-polyneuropathy syndrome 01-disease-subtype +MONDO:0014498 familial cold autoinflammatory syndrome 4 01-disease-subtype +MONDO:0014506 hypomyelinating leukodystrophy 9 02-disease-root +MONDO:0014507 Catel-Manzke syndrome 02-disease-root +MONDO:0014510 fatty acyl-CoA reductase 1 deficiency 01-disease-subtype +MONDO:0014512 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation 01-disease-subtype +MONDO:0014515 macular dystrophy with central cone involvement 01-disease-subtype +MONDO:0014518 platelet-type bleeding disorder 19 01-disease-subtype +MONDO:0014527 progeroid features-hepatocellular carcinoma predisposition syndrome 02-disease-root +MONDO:0014528 chronic atrial and intestinal dysrhythmia 02-disease-root +MONDO:0014530 autosomal recessive spinocerebellar ataxia 18 01-disease-subtype +MONDO:0014532 autosomal dominant mitochondrial myopathy with exercise intolerance 02-disease-root +MONDO:0014536 thrombocytopenia 5 01-disease-subtype +MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect 02-disease-root +MONDO:0014546 myopathy due to calsequestrin and SERCA1 protein overload 01-disease-subtype +MONDO:0014548 long QT syndrome 14 01-disease-subtype +MONDO:0014550 long QT syndrome 15 01-disease-subtype +MONDO:0014553 Tenorio syndrome 02-disease-root +MONDO:0014555 peeling skin syndrome type A 01-disease-subtype +MONDO:0014563 mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency 01-disease-subtype +MONDO:0014564 congenital bile acid synthesis defect 5 01-disease-subtype +MONDO:0014566 Charcot-Marie-Tooth disease axonal type 2U 01-disease-subtype +MONDO:0014572 Lichtenstein-Knorr syndrome 01-disease-subtype +MONDO:0014576 lipoyl transferase 1 deficiency 02-disease-root +MONDO:0014593 developmental and epileptic encephalopathy, 29 01-disease-subtype +MONDO:0014601 autosomal recessive spinocerebellar ataxia 20 01-disease-subtype +MONDO:0014603 autosomal dominant nonsyndromic hearing loss 40 01-disease-subtype +MONDO:0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 02-disease-root +MONDO:0014608 mandibulofacial dysostosis with alopecia 01-disease-subtype +MONDO:0014611 multiple mitochondrial dysfunctions syndrome 4 01-disease-subtype +MONDO:0014618 retinitis pigmentosa 71 01-disease-subtype +MONDO:0014619 trichothiodystrophy 3, photosensitive 01-disease-subtype +MONDO:0014628 basal ganglia calcification, idiopathic, 6 01-disease-subtype +MONDO:0014629 autoimmune interstitial lung disease-arthritis syndrome 02-disease-root +MONDO:0014632 hypomyelinating leukodystrophy 10 02-disease-root +MONDO:0014639 familial temporal lobe epilepsy 7 01-disease-subtype +MONDO:0014641 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 01-disease-subtype +MONDO:0014643 congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome 01-disease-subtype +MONDO:0014645 BENTA disease 02-disease-root +MONDO:0014654 Ullrich congenital muscular dystrophy 2 01-disease-subtype +MONDO:0014658 severe achondroplasia-developmental delay-acanthosis nigricans syndrome 02-disease-root +MONDO:0014659 infantile liver failure syndrome 2 01-disease-subtype +MONDO:0014661 epidermolysis bullosa simplex with nail dystrophy 01-disease-subtype +MONDO:0014662 congenital insensitivity to pain-hypohidrosis syndrome 01-disease-subtype +MONDO:0014665 Charcot-Marie-Tooth disease axonal type 2V 01-disease-subtype +MONDO:0014671 neuropathy, hereditary motor and sensory, type 6B 01-disease-subtype +MONDO:0014678 intellectual disability, autosomal dominant 39 02-disease-root +MONDO:0014688 short-rib thoracic dysplasia 14 with polydactyly 01-disease-subtype +MONDO:0014689 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome 01-disease-subtype +MONDO:0014700 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation 01-disease-subtype +MONDO:0014701 spondyloepiphyseal dysplasia, Stanescu type 01-disease-subtype +MONDO:0014704 skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome 02-disease-root +MONDO:0014708 ring chromosome 14 01-disease-subtype +MONDO:0014714 progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 02-disease-root +MONDO:0014717 early-onset Lafora body disease 01-disease-subtype +MONDO:0014720 autosomal dominant optic atrophy plus syndrome 01-disease-subtype +MONDO:0014722 Roifman syndrome 01-disease-subtype +MONDO:0014725 spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome 01-disease-subtype +MONDO:0014731 seizures-scoliosis-macrocephaly syndrome 01-disease-subtype +MONDO:0014732 hypomyelinating leukodystrophy 12 02-disease-root +MONDO:0014733 Charcot-Marie-Tooth disease type 4K 01-disease-subtype +MONDO:0014741 facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation 01-disease-subtype +MONDO:0014743 rhizomelic chondrodysplasia punctata type 5 01-disease-subtype +MONDO:0014746 SLC39A8-CDG 01-disease-subtype +MONDO:0014753 autosomal recessive optic atrophy 01-disease-subtype +MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome 01-disease-subtype +MONDO:0014764 spastic paraplegia-severe developmental delay-epilepsy syndrome 01-disease-subtype +MONDO:0014766 leukodystrophy and acquired microcephaly with or without dystonia; 02-disease-root +MONDO:0014768 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 01-disease-subtype +MONDO:0014769 inherited oocyte maturation defect 02-disease-root +MONDO:0014773 cardiac anomalies - developmental delay - facial dysmorphism syndrome 02-disease-root +MONDO:0014776 spinocerebellar ataxia type 42 01-disease-subtype +MONDO:0014789 CCDC115-CDG 01-disease-subtype +MONDO:0014790 TMEM199-CDG 01-disease-subtype +MONDO:0014791 Luscan-Lumish syndrome 02-disease-root +MONDO:0014795 exercise intolerance, riboflavin-responsive 02-disease-root +MONDO:0014801 even-plus syndrome 01-disease-subtype +MONDO:0014803 spasticity-ataxia-gait anomalies syndrome 01-disease-subtype +MONDO:0014804 sideroblastic anemia 3 01-disease-subtype +MONDO:0014805 Hao-Fountain syndrome 01-disease-subtype +MONDO:0014806 spinal muscular atrophy with congenital bone fractures 1 01-disease-subtype +MONDO:0014807 spinal muscular atrophy with congenital bone fractures 2 01-disease-subtype +MONDO:0014809 DDX41-related hematologic malignancy predisposition syndrome 02-disease-root +MONDO:0014810 pancytopenia due to IKZF1 mutations 01-disease-subtype +MONDO:0014813 hypomyelinating leukodystrophy 13 02-disease-root +MONDO:0014820 mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) 01-disease-subtype +MONDO:0014821 complex lethal osteochondrodysplasia 02-disease-root +MONDO:0014822 15q14 microdeletion syndrome 01-disease-subtype +MONDO:0014831 progeroid and marfanoid aspect-lipodystrophy syndrome 02-disease-root +MONDO:0014832 intellectual disability, autosomal recessive 53 01-disease-subtype +MONDO:0014834 dyskinesia, limb and orofacial, infantile-onset 02-disease-root +MONDO:0014836 Charcot-Marie-Tooth disease axonal type 2CC 01-disease-subtype +MONDO:0014839 chorea, childhood-onset, with psychomotor retardation 02-disease-root +MONDO:0014842 intellectual disability, autosomal dominant 41 01-disease-subtype +MONDO:0014846 autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to TUD deficiency 01-disease-subtype +MONDO:0014850 retinitis pigmentosa and erythrocytic microcytosis 02-disease-root +MONDO:0014853 autosomal dominant nonsyndromic hearing loss 70 01-disease-subtype +MONDO:0014863 macrocephaly, dysmorphic facies, and psychomotor retardation 02-disease-root +MONDO:0014873 nevus comedonicus syndrome 02-disease-root +MONDO:0014878 patent ductus arteriosus 2 01-disease-subtype +MONDO:0014883 hypertrophic cardiomyopathy 26 02-disease-root +MONDO:0014885 Hermansky-Pudlak syndrome 10 01-disease-subtype +MONDO:0014888 MIRAGE syndrome 02-disease-root +MONDO:0014889 striatonigral degeneration, childhood-onset 01-disease-subtype +MONDO:0014893 Okur-Chung neurodevelopmental syndrome 02-disease-root +MONDO:0014899 adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency 01-disease-subtype +MONDO:0014900 autosomal recessive limb-girdle muscular dystrophy type 2Y 01-disease-subtype +MONDO:0014914 Dias-Logan syndrome 01-disease-subtype +MONDO:0014916 developmental and epileptic encephalopathy, 41 01-disease-subtype +MONDO:0014919 sessile serrated polyposis cancer syndrome 01-disease-subtype +MONDO:0014931 Alazami-Yuan syndrome 02-disease-root +MONDO:0014940 neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset 02-disease-root +MONDO:0014944 short stature-brachydactyly-obesity-global developmental delay syndrome 01-disease-subtype +MONDO:0014946 Sifrim-Hitz-Weiss syndrome 02-disease-root +MONDO:0014948 short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay 02-disease-root +MONDO:0014953 gnb5-related intellectual disability-cardiac arrhythmia syndrome 02-disease-root +MONDO:0014956 Chitayat syndrome 02-disease-root +MONDO:0014957 language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia 02-disease-root +MONDO:0014958 Harel-Yoon syndrome 02-disease-root +MONDO:0014962 intellectual disability, autosomal recessive 57 01-disease-subtype +MONDO:0014963 Shashi-Pena syndrome 02-disease-root +MONDO:0014968 encephalopathy, progressive, with amyotrophy and optic atrophy 02-disease-root +MONDO:0014993 myofibrillar myopathy 8 01-disease-subtype +MONDO:0014994 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 02-disease-root +MONDO:0014995 neurodevelopmental disorder with hypotonia, seizures, and absent language 02-disease-root +MONDO:0015003 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 01-disease-subtype +MONDO:0015006 epidermolysis bullosa simplex 6, generalized, with scarring and hair loss 01-disease-subtype +MONDO:0015007 spastic paraplegia, intellectual disability, nystagmus, and obesity; 02-disease-root +MONDO:0015009 lymphatic malformation 7 02-disease-root +MONDO:0015010 atypical glycine encephalopathy 01-disease-subtype +MONDO:0015014 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness 02-disease-root +MONDO:0015023 MYPN-related myopathy 01-disease-subtype +MONDO:0015027 familial isolated hyperparathyroidism 01-disease-subtype +MONDO:0015028 48,XXYY syndrome 01-disease-subtype +MONDO:0015032 intraneural perineurioma 01-disease-subtype +MONDO:0015033 ABeta amyloidosis, dutch type 01-disease-subtype +MONDO:0015034 lissencephaly with cerebellar hypoplasia type A 01-disease-subtype +MONDO:0015035 lissencephaly with cerebellar hypoplasia type B 01-disease-subtype +MONDO:0015036 lissencephaly with cerebellar hypoplasia type C 01-disease-subtype +MONDO:0015037 lissencephaly with cerebellar hypoplasia type D 01-disease-subtype +MONDO:0015038 lissencephaly with cerebellar hypoplasia type E 01-disease-subtype +MONDO:0015039 lissencephaly with cerebellar hypoplasia type F 01-disease-subtype +MONDO:0015047 amelogenesis imperfecta type 1 01-disease-subtype +MONDO:0015048 amelogenesis imperfecta type 2 01-disease-subtype +MONDO:0015050 esophageal duplication cyst 01-disease-subtype +MONDO:0015051 tubular duplication of the esophagus 01-disease-subtype +MONDO:0015053 hereditary angioedema type 1 01-disease-subtype +MONDO:0015054 hereditary angioedema type 2 01-disease-subtype +MONDO:0015059 progressive non-fluent aphasia 01-disease-subtype +MONDO:0015060 mosaic trisomy 3 01-disease-subtype +MONDO:0015062 gastric neuroendocrine tumor, well differentiated, low or intermediate grade 02-disease-root +MONDO:0015063 duodenal neuroendocrine tumor, well differentiated, low or intermediate grade 01-disease-subtype +MONDO:0015064 jejunal neuroendocrine tumor, well differentiated, low or intermediate grade 01-disease-subtype +MONDO:0015065 ileal neuroendocrine tumor, well differentiated, low or intermediate grade 01-disease-subtype +MONDO:0015066 neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade 01-disease-subtype +MONDO:0015067 neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor 02-disease-root +MONDO:0015070 laryngeal neuroendocrine neoplasm 03-disease-area +MONDO:0015073 gallbladder neuroendocrine tumor, grade 1/2 02-disease-root +MONDO:0015077 adrenal/paraganglial tumor 03-disease-area +MONDO:0015079 multiple polyglandular tumor 03-disease-area +MONDO:0015082 alopecia antibody deficiency 02-disease-root +MONDO:0015083 nuclear oculomotor paralysis 02-disease-root +MONDO:0015084 FRAXF syndrome 02-disease-root +MONDO:0015085 bathing suit ichthyosis 01-disease-subtype +MONDO:0015086 cloverleaf skull-asphyxiating thoracic dysplasia syndrome 02-disease-root +MONDO:0015087 autosomal dominant complex spastic paraplegia 03-disease-area +MONDO:0015088 autosomal dominant pure spastic paraplegia 01-disease-subtype +MONDO:0015089 autosomal recessive complex spastic paraplegia 03-disease-area +MONDO:0015090 autosomal recessive pure spastic paraplegia 01-disease-subtype +MONDO:0015091 autosomal dominant spastic paraplegia type 9 01-disease-subtype +MONDO:0015093 sub-cortical nodular heterotopia 01-disease-subtype +MONDO:0015094 subependymal nodular heterotopia 01-disease-subtype +MONDO:0015095 Peters anomaly-cataract syndrome 01-disease-subtype +MONDO:0015096 familial hypofibrinogenemia 01-disease-subtype +MONDO:0015099 unilateral hemispheric polymicrogyria 01-disease-subtype +MONDO:0015101 Marin-Amat syndrome 01-disease-subtype +MONDO:0015104 porphyria cutanea tarda 01-disease-subtype +MONDO:0015110 genetic cardiac rhythm disease 03-disease-area +MONDO:0015111 gastroesophageal disease 03-disease-area +MONDO:0015126 polyendocrinopathy 03-disease-area +MONDO:0015127 pituitary deficiency 03-disease-area +MONDO:0015128 primary adrenal insufficiency 03-disease-area +MONDO:0015129 chronic primary adrenal insufficiency 02-disease-root +MONDO:0015130 acquired chronic primary adrenal insufficiency 01-disease-subtype +MONDO:0015131 combined immunodeficiency 03-disease-area +MONDO:0015132 immunodeficiency predominantly affecting antibody production 03-disease-area +MONDO:0015133 quantitative and/or qualitative congenital phagocyte defect 03-disease-area +MONDO:0015134 constitutional neutropenia 01-disease-subtype +MONDO:0015135 primary immunodeficiency due to a genetic defect in innate immunity 03-disease-area +MONDO:0015137 periodic fever syndrome 03-disease-area +MONDO:0015140 early-onset autosomal dominant Alzheimer disease 01-disease-subtype +MONDO:0015141 disorder of medulla oblongata 03-disease-area +MONDO:0015144 brain inflammatory disease 03-disease-area +MONDO:0015145 neurovascular malformation 03-disease-area +MONDO:0015146 classic lissencephaly 02-disease-root +MONDO:0015148 lissencephaly type 3 03-disease-area +MONDO:0015149 pure hereditary spastic paraplegia 01-disease-subtype +MONDO:0015150 complex hereditary spastic paraplegia 03-disease-area +MONDO:0015151 muscular dystrophy, limb-girdle, autosomal dominant 02-disease-root +MONDO:0015152 autosomal recessive limb-girdle muscular dystrophy 02-disease-root +MONDO:0015157 human herpesvirus 8-related tumor 02-disease-root +MONDO:0015159 multiple congenital anomalies/dysmorphic syndrome-intellectual disability 03-disease-area +MONDO:0015160 multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome 03-disease-area +MONDO:0015161 multiple congenital anomalies/dysmorphic syndrome without intellectual disability 03-disease-area +MONDO:0015163 primary glomerular disease 03-disease-area +MONDO:0015167 amniotic band syndrome 02-disease-root +MONDO:0015168 arthrogryposis multiplex congenita 02-disease-root +MONDO:0015169 chronic diarrhea due to glucoamylase deficiency 01-disease-subtype +MONDO:0015170 congenital sodium diarrhea 01-disease-subtype +MONDO:0015171 congenital enterocyte heparan sulfate deficiency 01-disease-subtype +MONDO:0015175 autoimmune pancreatitis 02-disease-root +MONDO:0015177 metaphyseal anadysplasia 01-disease-subtype +MONDO:0015178 congenital intestinal transport defect 03-disease-area +MONDO:0015179 intestinal disease due to vitamin absorption anomaly 02-disease-root +MONDO:0015180 intestinal disease due to fat malabsorption 02-disease-root +MONDO:0015182 congenital enteropathy involving intestinal mucosa development 02-disease-root +MONDO:0015183 short bowel syndrome 02-disease-root +MONDO:0015185 intestinal polyposis syndrome 02-disease-root +MONDO:0015191 myopathic intestinal pseudoobstruction 01-disease-subtype +MONDO:0015193 hydrops fetalis 02-disease-root +MONDO:0015194 sideroblastic anemia 01-disease-subtype +MONDO:0015195 atresia of urethra 01-disease-subtype +MONDO:0015198 aniridia-ptosis-intellectual disability-familial obesity syndrome 01-disease-subtype +MONDO:0015199 aniridia - intellectual disability syndrome 01-disease-subtype +MONDO:0015201 ankyloblepharon filiforme-imperforate anus syndrome 02-disease-root +MONDO:0015204 microlissencephaly 02-disease-root +MONDO:0015205 isolated lissencephaly type 1 without known genetic defects 01-disease-subtype +MONDO:0015206 short stature-heart defect-craniofacial anomalies syndrome 02-disease-root +MONDO:0015207 non-syndromic esophageal malformation 02-disease-root +MONDO:0015208 syndromic esophageal malformation 02-disease-root +MONDO:0015209 non-syndromic gastroduodenal malformation 01-disease-subtype +MONDO:0015210 syndromic gastroduodenal malformation 01-disease-subtype +MONDO:0015211 non-syndromic intestinal malformation 01-disease-subtype +MONDO:0015212 syndromic intestinal malformation 01-disease-subtype +MONDO:0015213 non-syndromic visceral malformation 02-disease-root +MONDO:0015214 syndromic visceral malformation 02-disease-root +MONDO:0015215 non-syndromic diaphragmatic or abdominal wall malformation 02-disease-root +MONDO:0015216 syndromic diaphragmatic or abdominal wall malformation 03-disease-area +MONDO:0015217 non-syndromic developmental defect of the eye 03-disease-area +MONDO:0015219 non-syndromic central nervous system malformation 03-disease-area +MONDO:0015221 non-syndromic respiratory or mediastinal malformation 02-disease-root +MONDO:0015222 syndromic respiratory or mediastinal malformation 02-disease-root +MONDO:0015225 arthrogryposis syndrome 03-disease-area +MONDO:0015227 non-syndromic limb malformation 03-disease-area +MONDO:0015228 pentasomy X 01-disease-subtype +MONDO:0015229 Bardet-Biedl syndrome 02-disease-root +MONDO:0015230 anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome 02-disease-root +MONDO:0015231 Bartter syndrome 02-disease-root +MONDO:0015232 radial deficiency-tibial hypoplasia syndrome 02-disease-root +MONDO:0015233 caudal appendage-deafness syndrome 02-disease-root +MONDO:0015234 arachnodactyly-abnormal ossification-intellectual disability syndrome 02-disease-root +MONDO:0015235 arachnodactyly-intellectual disability-dysmorphism syndrome 02-disease-root +MONDO:0015238 arrhinia-choanal atresia-microphthalmia syndrome 02-disease-root +MONDO:0015240 digitotalar dysmorphism 01-disease-subtype +MONDO:0015241 arthrogryposis-like syndrome 01-disease-subtype +MONDO:0015244 autosomal recessive cerebellar ataxia 02-disease-root +MONDO:0015246 syndromic anorectal malformation 03-disease-area +MONDO:0015250 spinal atrophy-ophthalmoplegia-pyramidal syndrome 01-disease-subtype +MONDO:0015253 Diamond-Blackfan anemia 02-disease-root +MONDO:0015255 blepharophimosis-radioulnar synostosis syndrome 02-disease-root +MONDO:0015256 blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome 02-disease-root +MONDO:0015257 sino-auricular heart block 02-disease-root +MONDO:0015259 brachydactyly-mesomelia-intellectual disability-heart defects syndrome 02-disease-root +MONDO:0015262 brachyolmia 02-disease-root +MONDO:0015263 Brugada syndrome 02-disease-root +MONDO:0015267 Feingold syndrome 02-disease-root +MONDO:0015268 medullary sponge kidney 01-disease-subtype +MONDO:0015270 butyrylcholinesterase deficiency 02-disease-root +MONDO:0015272 camptodactyly-taurinuria syndrome 02-disease-root +MONDO:0015277 medullary thyroid gland carcinoma 01-disease-subtype +MONDO:0015278 familial pancreatic carcinoma 01-disease-subtype +MONDO:0015279 chronic mucocutaneous candidiasis 02-disease-root +MONDO:0015280 cardiofaciocutaneous syndrome 02-disease-root +MONDO:0015281 atrial standstill 01-disease-subtype +MONDO:0015282 cardiomyopathy-cataract-hip spine disease syndrome 02-disease-root +MONDO:0015283 maternally-inherited cardiomyopathy and hearing loss 02-disease-root +MONDO:0015284 heart-hand syndrome type 2 01-disease-subtype +MONDO:0015285 Carney complex 02-disease-root +MONDO:0015286 congenital disorder of glycosylation 03-disease-area +MONDO:0015293 segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome 01-disease-subtype +MONDO:0015295 intractable diarrhea-choanal atresia-eye anomalies syndrome 02-disease-root +MONDO:0015296 cardiac anomalies-heterotaxy syndrome 02-disease-root +MONDO:0015300 cataract - microcornea syndrome 01-disease-subtype +MONDO:0015301 primary cutaneous amyloidosis 02-disease-root +MONDO:0015307 Madras motor neuron disease 02-disease-root +MONDO:0015308 laminopathy type Decaudain-Vigouroux 01-disease-subtype +MONDO:0015310 syndromic optic nerve hypoplasia 02-disease-root +MONDO:0015311 autism-facial port-wine stain syndrome 02-disease-root +MONDO:0015323 teratogenic Pierre Robin syndrome 03-disease-area +MONDO:0015324 cataract-intellectual disability-anal atresia-urinary defects syndrome 01-disease-subtype +MONDO:0015325 cataract-deafness-hypogonadism syndrome 02-disease-root +MONDO:0015326 night blindness-skeletal anomalies-dysmorphism syndrome 02-disease-root +MONDO:0015327 developmental anomaly of metabolic origin 03-disease-area +MONDO:0015330 overgrowth/obesity syndrome 02-disease-root +MONDO:0015333 progeroid syndrome 03-disease-area +MONDO:0015334 branchial arch or oral-acral syndrome 03-disease-area +MONDO:0015335 orofacial clefting syndrome 03-disease-area +MONDO:0015337 isolated craniosynostosis 02-disease-root +MONDO:0015338 syndromic craniosynostosis 03-disease-area +MONDO:0015339 adrenomyeloneuropathy 01-disease-subtype +MONDO:0015342 acute transverse myelitis 01-disease-subtype +MONDO:0015344 idiopathic acute transverse myelitis 01-disease-subtype +MONDO:0015346 Jeavons syndrome 01-disease-subtype +MONDO:0015348 leukoencephalopathy with bilateral anterior temporal lobe cysts 02-disease-root +MONDO:0015349 progressive cavitating leukoencephalopathy 02-disease-root +MONDO:0015350 17q11.2 microduplication syndrome 01-disease-subtype +MONDO:0015351 neuropathy with hearing impairment 02-disease-root +MONDO:0015352 distal hereditary motor neuropathy type 2 01-disease-subtype +MONDO:0015353 neuronopathy, distal hereditary motor, type 5A 01-disease-subtype +MONDO:0015354 hereditary sensory and autonomic neuropathy with deafness and global delay 01-disease-subtype +MONDO:0015355 distal hereditary motor neuropathy type 7 01-disease-subtype +MONDO:0015356 hereditary neoplastic syndrome 03-disease-area +MONDO:0015358 hereditary motor and sensory neuropathy 03-disease-area +MONDO:0015359 autosomal dominant hereditary demyelinating motor and sensory neuropathy 03-disease-area +MONDO:0015360 autosomal dominant hereditary axonal motor and sensory neuropathy 02-disease-root +MONDO:0015361 autosomal recessive hereditary demyelinating motor and sensory neuropathy 03-disease-area +MONDO:0015362 autosomal dominant distal hereditary motor neuropathy 02-disease-root +MONDO:0015363 autosomal recessive distal hereditary motor neuropathy 02-disease-root +MONDO:0015364 hereditary sensory and autonomic neuropathy 02-disease-root +MONDO:0015365 autosomal dominant hereditary sensory and autonomic neuropathy 01-disease-subtype +MONDO:0015366 autosomal recessive hereditary sensory and autonomic neuropathy 01-disease-subtype +MONDO:0015367 Charlie M syndrome 01-disease-subtype +MONDO:0015368 neuro-ophthalmological disease 03-disease-area +MONDO:0015369 Joubert syndrome and related disorders 03-disease-area +MONDO:0015371 linear atrophoderma of Moulin 02-disease-root +MONDO:0015372 autosomal dominant macrothrombocytopenia 02-disease-root +MONDO:0015374 primary central nervous system vasculitis 01-disease-subtype +MONDO:0015375 orofaciodigital syndrome 02-disease-root +MONDO:0015394 nasal encephalocele 01-disease-subtype +MONDO:0015397 oculo-auriculo-vertebral spectrum 01-disease-subtype +MONDO:0015398 hemifacial microsomia 01-disease-subtype +MONDO:0015399 glossopalatine ankylosis 01-disease-subtype +MONDO:0015405 cerebrofacial arteriovenous metameric syndrome 01-disease-subtype +MONDO:0015411 facial cleft 03-disease-area +MONDO:0015412 median facial cleft 02-disease-root +MONDO:0015415 oblique facial cleft 02-disease-root +MONDO:0015416 Tessier number 5 facial cleft 01-disease-subtype +MONDO:0015417 Tessier number 6 facial cleft 01-disease-subtype +MONDO:0015418 lateral facial cleft 02-disease-root +MONDO:0015421 orofaciodigital syndrome type 12 01-disease-subtype +MONDO:0015422 orofaciodigital syndrome type 13 01-disease-subtype +MONDO:0015424 lethal chondrodysplasia, Moerman type 02-disease-root +MONDO:0015425 lethal recessive chondrodysplasia 01-disease-subtype +MONDO:0015426 Desbuquois dysplasia 02-disease-root +MONDO:0015427 paroxysmal dyskinesia 01-disease-subtype +MONDO:0015428 choroidal atrophy-alopecia syndrome 02-disease-root +MONDO:0015429 choroideremia-hypopituitarism syndrome 02-disease-root +MONDO:0015430 ring chromosome 1 01-disease-subtype +MONDO:0015431 ring chromosome 10 01-disease-subtype +MONDO:0015432 ring chromosome 12 01-disease-subtype +MONDO:0015433 ring chromosome 17 02-disease-root +MONDO:0015434 ring chromosome 18 01-disease-subtype +MONDO:0015435 ring chromosome 19 01-disease-subtype +MONDO:0015436 ring chromosome 20 01-disease-subtype +MONDO:0015437 ring chromosome 21 01-disease-subtype +MONDO:0015438 ring chromosome 22 01-disease-subtype +MONDO:0015439 ring chromosome 4 01-disease-subtype +MONDO:0015440 ring chromosome 6 01-disease-subtype +MONDO:0015441 ring chromosome 7 01-disease-subtype +MONDO:0015443 chromosome 8-derived supernumerary ring/marker 01-disease-subtype +MONDO:0015446 atypical coarctation of aorta 01-disease-subtype +MONDO:0015448 mitochondrial complex III deficiency 01-disease-subtype +MONDO:0015452 Coffin-Siris syndrome 02-disease-root +MONDO:0015454 multiple carboxylase deficiency 01-disease-subtype +MONDO:0015458 intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome 02-disease-root +MONDO:0015461 short rib-polydactyly syndrome 01-disease-subtype +MONDO:0015462 thin ribs-tubular bones-dysmorphism syndrome 02-disease-root +MONDO:0015463 craniodigital syndrome-intellectual disability syndrome 02-disease-root +MONDO:0015464 craniofrontonasal dysplasia-Poland anomaly syndrome 01-disease-subtype +MONDO:0015465 craniometaphyseal dysplasia 02-disease-root +MONDO:0015466 cranio-osteoarthropathy 01-disease-subtype +MONDO:0015467 craniosynostosis, Philadelphia type 02-disease-root +MONDO:0015468 craniosynostosis-cataract syndrome 02-disease-root +MONDO:0015469 craniosynostosis 03-disease-area +MONDO:0015470 familial isolated dilated cardiomyopathy 02-disease-root +MONDO:0015473 cryptorchidism-arachnodactyly-intellectual disability syndrome 02-disease-root +MONDO:0015474 cryptosporidiosis 02-disease-root +MONDO:0015476 cysts and fistulae of the face and oral cavity 02-disease-root +MONDO:0015480 coloboma of superior eyelid 01-disease-subtype +MONDO:0015481 coloboma of inferior eyelid 01-disease-subtype +MONDO:0015482 otomandibular dysplasia 03-disease-area +MONDO:0015483 mandibulofacial dysostosis 02-disease-root +MONDO:0015485 primary hereditary glaucoma 01-disease-subtype +MONDO:0015486 keratoconus 02-disease-root +MONDO:0015487 fatal infantile encephalocardiomyopathy 01-disease-subtype +MONDO:0015488 predominantly large-vessel vasculitis 02-disease-root +MONDO:0015489 predominantly medium-vessel vasculitis 02-disease-root +MONDO:0015490 predominantly small-vessel vasculitis 02-disease-root +MONDO:0015492 Anti-neutrophil cytoplasmic antibody-associated vasculitis 01-disease-subtype +MONDO:0015493 lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy 01-disease-subtype +MONDO:0015494 isolated dystonia 03-disease-area +MONDO:0015496 macroglossia 02-disease-root +MONDO:0015497 hypoglossia/aglossia 03-disease-area +MONDO:0015498 oromandibular-limb anomalies syndrome 02-disease-root +MONDO:0015499 paralytic facial malformation 02-disease-root +MONDO:0015503 nose and cavum anomaly 03-disease-area +MONDO:0015504 larynx anomaly 03-disease-area +MONDO:0015505 tracheal anomaly 03-disease-area +MONDO:0015508 genetic parenchymatous liver disease 02-disease-root +MONDO:0015509 genetic biliary tract disease 03-disease-area +MONDO:0015512 genetic hypertension 01-disease-subtype +MONDO:0015514 genetic endocrine growth disease 03-disease-area +MONDO:0015515 carnitine palmitoyltransferase II deficiency 01-disease-subtype +MONDO:0015516 symbrachydactyly of hands and feet 01-disease-subtype +MONDO:0015517 common variable immunodeficiency 02-disease-root +MONDO:0015518 infantile bilateral striatal necrosis 02-disease-root +MONDO:0015519 congenital or early infantile CACH syndrome 01-disease-subtype +MONDO:0015520 late infantile CACH syndrome 01-disease-subtype +MONDO:0015521 juvenile or adult CACH syndrome 01-disease-subtype +MONDO:0015522 situs ambiguus 01-disease-subtype +MONDO:0015523 epithelioid hemangioendothelioma 01-disease-subtype +MONDO:0015524 hyperplastic polyposis syndrome 01-disease-subtype +MONDO:0015525 congenital pseudoarthrosis of the limbs 02-disease-root +MONDO:0015526 cold-induced sweating syndrome 02-disease-root +MONDO:0015530 trigeminal autonomic cephalalgia 01-disease-subtype +MONDO:0015531 non-Langerhans cell histiocytosis 02-disease-root +MONDO:0015540 hemophagocytic syndrome 02-disease-root +MONDO:0015541 genetic hemophagocytic lymphohistiocytosis 02-disease-root +MONDO:0015542 secondary hemophagocytic lymphohistiocytosis 01-disease-subtype +MONDO:0015546 non-distal monosomy 10q 01-disease-subtype +MONDO:0015547 genetic dementia 03-disease-area +MONDO:0015548 Huntington disease-like syndrome 03-disease-area +MONDO:0015550 suprabasal epidermolysis bullosa simplex 01-disease-subtype +MONDO:0015552 acral dystrophic epidermolysis bullosa 01-disease-subtype +MONDO:0015553 dystrophic epidermolysis bullosa, nails only 01-disease-subtype +MONDO:0015562 distal monosomy 17q 01-disease-subtype +MONDO:0015564 Castleman disease 01-disease-subtype +MONDO:0015566 2q24 microdeletion syndrome 01-disease-subtype +MONDO:0015567 cataract-glaucoma syndrome 01-disease-subtype +MONDO:0015571 deletion 5q35 01-disease-subtype +MONDO:0015574 chronic cutaneous lupus erythematosus 01-disease-subtype +MONDO:0015579 Hb Bart's hydrops fetalis 01-disease-subtype +MONDO:0015580 distal monosomy 7q36 01-disease-subtype +MONDO:0015583 2p21 microdeletion syndrome 01-disease-subtype +MONDO:0015585 cryptogenic late-onset epileptic spasms 01-disease-subtype +MONDO:0015586 benign familial mesial temporal lobe epilepsy 01-disease-subtype +MONDO:0015587 rolandic epilepsy-speech dyspraxia syndrome 01-disease-subtype +MONDO:0015597 pustulosis palmaris et plantaris 02-disease-root +MONDO:0015600 X-linked intellectual disability, Cilliers type 02-disease-root +MONDO:0015601 X-linked intellectual disability, van Esch type 02-disease-root +MONDO:0015605 distal monosomy 9p 01-disease-subtype +MONDO:0015606 Xp22.3 microdeletion syndrome 01-disease-subtype +MONDO:0015607 partial chromosome Y deletion 01-disease-subtype +MONDO:0015609 advanced sleep phase syndrome 02-disease-root +MONDO:0015611 neutral lipid storage disease 01-disease-subtype +MONDO:0015612 Dent disease 02-disease-root +MONDO:0015613 dentin dysplasia 02-disease-root +MONDO:0015617 genetic gastro-esophageal disease 03-disease-area +MONDO:0015619 non-syndromic urogenital tract malformation 02-disease-root +MONDO:0015620 syndromic urogenital tract malformation 03-disease-area +MONDO:0015624 diazoxide-sensitive diffuse hyperinsulinism 01-disease-subtype +MONDO:0015625 diazoxide-resistant diffuse hyperinsulinism 01-disease-subtype +MONDO:0015626 Charcot-Marie-Tooth disease 02-disease-root +MONDO:0015627 multiple epiphyseal dysplasia due to collagen 9 anomaly 01-disease-subtype +MONDO:0015628 von Willebrand disease type 2A 01-disease-subtype +MONDO:0015629 von Willebrand disease type 2B 01-disease-subtype +MONDO:0015630 von Willebrand disease type 2M 01-disease-subtype +MONDO:0015631 von Willebrand disease type 2N 01-disease-subtype +MONDO:0015632 FASTKD2-related infantile mitochondrial encephalomyopathy 02-disease-root +MONDO:0015634 isolated osteopoikilosis 01-disease-subtype +MONDO:0015635 porokeratotic eccrine ostial and dermal duct nevus 01-disease-subtype +MONDO:0015637 benign non-familial infantile seizures 02-disease-root +MONDO:0015638 benign partial epilepsy of infancy with complex partial seizures 01-disease-subtype +MONDO:0015639 benign partial epilepsy with secondarily generalized seizures in infancy 01-disease-subtype +MONDO:0015640 benign infantile seizures associated with mild gastroenteritis 02-disease-root +MONDO:0015641 benign infantile focal epilepsy with midline spikes and wave during sleep 02-disease-root +MONDO:0015642 benign partial infantile seizures 03-disease-area +MONDO:0015643 photosensitive epilepsy 02-disease-root +MONDO:0015650 epilepsy syndrome 01-disease-subtype +MONDO:0015653 monogenic epilepsy 01-disease-subtype +MONDO:0015660 sporadic fetal brain disruption sequence 02-disease-root +MONDO:0015666 familial idiopathic dilatation of the right atrium 02-disease-root +MONDO:0015667 acute myeloid leukemia by FAB classification 01-disease-subtype +MONDO:0015668 hereditary dentin defect 03-disease-area +MONDO:0015674 late infantile neuronal ceroid lipofuscinosis 01-disease-subtype +MONDO:0015678 dysplasia of head of femur, Meyer type 01-disease-subtype +MONDO:0015679 autosomal thrombocytopenia with normal platelets 01-disease-subtype +MONDO:0015681 childhood disintegrative disorder 02-disease-root +MONDO:0015682 primary peritoneal tumor 03-disease-area +MONDO:0015683 primary malignant peritoneal tumor 03-disease-area +MONDO:0015686 primary peritoneal carcinoma 02-disease-root +MONDO:0015695 combined immunodeficiency due to CRAC channel dysfunction 03-disease-area +MONDO:0015697 immunoglobulin heavy chain deficiency 02-disease-root +MONDO:0015698 transient hypogammaglobulinemia of infancy 01-disease-subtype +MONDO:0015699 immunodeficiency due to a classical component pathway complement deficiency 02-disease-root +MONDO:0015700 immunodeficiency due to a late component of complement deficiency 02-disease-root +MONDO:0015701 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency 01-disease-subtype +MONDO:0015702 T-B+ severe combined immunodeficiency due to CD45 deficiency 01-disease-subtype +MONDO:0015703 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta 01-disease-subtype +MONDO:0015704 familial scaphocephaly syndrome 02-disease-root +MONDO:0015705 autosomal recessive centronuclear myopathy 01-disease-subtype +MONDO:0015706 mosaic trisomy 1 01-disease-subtype +MONDO:0015708 immuno-osseous dysplasia 02-disease-root +MONDO:0015712 non-distal trisomy 10q 01-disease-subtype +MONDO:0015713 idiopathic central precocious puberty 01-disease-subtype +MONDO:0015715 severe hemophilia B 01-disease-subtype +MONDO:0015716 moderately severe hemophilia B 01-disease-subtype +MONDO:0015717 mild hemophilia B 01-disease-subtype +MONDO:0015718 mosaic trisomy 12 01-disease-subtype +MONDO:0015719 severe hemophilia A 01-disease-subtype +MONDO:0015720 moderately severe hemophilia A 01-disease-subtype +MONDO:0015721 mild hemophilia A 01-disease-subtype +MONDO:0015722 congenital vitamin K-dependent coagulation factors deficiency 02-disease-root +MONDO:0015723 trisomy 12p 01-disease-subtype +MONDO:0015724 non-distal trisomy 13q 01-disease-subtype +MONDO:0015725 mosaic trisomy 14 01-disease-subtype +MONDO:0015726 distal trisomy 14q 01-disease-subtype +MONDO:0015727 mosaic trisomy 15 01-disease-subtype +MONDO:0015728 distal trisomy 15q 01-disease-subtype +MONDO:0015729 mosaic trisomy 16 01-disease-subtype +MONDO:0015730 mosaic trisomy 17 02-disease-root +MONDO:0015731 high anorectal malformation 01-disease-subtype +MONDO:0015732 intermediate anorectal malformation 01-disease-subtype +MONDO:0015733 low anorectal malformation 01-disease-subtype +MONDO:0015734 rectal duplication 02-disease-root +MONDO:0015735 severe congenital nemaline myopathy 01-disease-subtype +MONDO:0015736 intermediate nemaline myopathy 01-disease-subtype +MONDO:0015737 typical nemaline myopathy 01-disease-subtype +MONDO:0015738 childhood-onset nemaline myopathy 01-disease-subtype +MONDO:0015739 adult-onset nemaline myopathy 01-disease-subtype +MONDO:0015740 trisomy 18p 01-disease-subtype +MONDO:0015741 distal trisomy 18q 01-disease-subtype +MONDO:0015744 distal trisomy 19q 01-disease-subtype +MONDO:0015745 microcephaly-polymicrogyria-corpus callosum agenesis syndrome 02-disease-root +MONDO:0015746 male infertility due to globozoospermia 01-disease-subtype +MONDO:0015748 hereditary mucosal leukokeratosis 02-disease-root +MONDO:0015749 6q16 deletion syndrome 01-disease-subtype +MONDO:0015751 craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome 02-disease-root +MONDO:0015752 intellectual disability-cataracts-kyphosis syndrome 01-disease-subtype +MONDO:0015753 cap myopathy 01-disease-subtype +MONDO:0015755 myopathy with hexagonally cross-linked tubular arrays 01-disease-subtype +MONDO:0015756 myeloid hemopathy 03-disease-area +MONDO:0015757 lymphoid hemopathy 03-disease-area +MONDO:0015758 primary cutaneous T-cell lymphoma 01-disease-subtype +MONDO:0015760 T-cell non-Hodgkin lymphoma 01-disease-subtype +MONDO:0015761 trisomy 10p 01-disease-subtype +MONDO:0015762 progressive familial intrahepatic cholestasis 02-disease-root +MONDO:0015763 mosaic trisomy 2 02-disease-root +MONDO:0015764 mosaic trisomy 20 01-disease-subtype +MONDO:0015765 congenital myopathy with cores 01-disease-subtype +MONDO:0015767 trisomy 4p 01-disease-subtype +MONDO:0015768 trisomy 5p 01-disease-subtype +MONDO:0015769 distal trisomy 6p 01-disease-subtype +MONDO:0015770 congenital hypogonadotropic hypogonadism 03-disease-area +MONDO:0015771 mosaic trisomy 7 01-disease-subtype +MONDO:0015772 trisomy 8q 01-disease-subtype +MONDO:0015773 fibular dimelia-diplopodia syndrome 02-disease-root +MONDO:0015774 thoraco-abdominal enteric duplication 01-disease-subtype +MONDO:0015775 non-rhizomelic chondrodysplasia punctata 01-disease-subtype +MONDO:0015776 rhizomelic chondrodysplasia punctata 02-disease-root +MONDO:0015778 syndromic hypothyroidism 02-disease-root +MONDO:0015779 45,X/46,XY mixed gonadal dysgenesis 01-disease-subtype +MONDO:0015780 dyskeratosis congenita 02-disease-root +MONDO:0015781 facial dysmorphism-shawl scrotum-joint laxity syndrome 02-disease-root +MONDO:0015782 dysmorphism-cleft palate-loose skin syndrome 02-disease-root +MONDO:0015783 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 01-disease-subtype +MONDO:0015784 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 01-disease-subtype +MONDO:0015785 Prader-Willi syndrome due to translocation 01-disease-subtype +MONDO:0015786 Prader-Willi syndrome due to imprinting mutation 01-disease-subtype +MONDO:0015787 symptomatic form of hemophilia A in female carriers 01-disease-subtype +MONDO:0015788 symptomatic form of hemophilia B in female carriers 01-disease-subtype +MONDO:0015791 peripheral precocious puberty 01-disease-subtype +MONDO:0015792 transient congenital hypothyroidism 02-disease-root +MONDO:0015793 moderate multiminicore disease with hand involvement 01-disease-subtype +MONDO:0015794 antenatal multiminicore disease with arthrogryposis multiplex congenita 01-disease-subtype +MONDO:0015797 UV-sensitive syndrome 02-disease-root +MONDO:0015798 inflammatory myofibroblastic tumor 02-disease-root +MONDO:0015799 Smith-McCort dysplasia 02-disease-root +MONDO:0015800 osteosclerosis-developmental delay-craniosynostosis syndrome 02-disease-root +MONDO:0015801 hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation 02-disease-root +MONDO:0015802 autosomal dominant non-syndromic intellectual disability 02-disease-root +MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma 01-disease-subtype +MONDO:0015816 indolent primary cutaneous T-cell lymphoma 01-disease-subtype +MONDO:0015817 aggressive primary cutaneous T-cell lymphoma 01-disease-subtype +MONDO:0015818 aggressive primary cutaneous B-cell lymphoma 01-disease-subtype +MONDO:0015819 indolent primary cutaneous B-cell lymphoma 01-disease-subtype +MONDO:0015820 primary cutaneous B-cell lymphoma 02-disease-root +MONDO:0015821 mycosis fungoides and variants 01-disease-subtype +MONDO:0015822 acquired neutropenia 01-disease-subtype +MONDO:0015823 primary immunodeficiency due to a defect in adaptive immunity 03-disease-area +MONDO:0015824 oculomaxillofacial dysostosis 02-disease-root +MONDO:0015826 autosomal dominant spondylocostal dysostosis 01-disease-subtype +MONDO:0015827 distal renal tubular acidosis 02-disease-root +MONDO:0015828 uterovaginal malformation 03-disease-area +MONDO:0015829 non-syndromic uterovaginal malformation 01-disease-subtype +MONDO:0015830 partial bilateral aplasia of the mullerian ducts 01-disease-subtype +MONDO:0015831 unilateral aplasia of the mullerian ducts 01-disease-subtype +MONDO:0015832 true unicornuate uterus 01-disease-subtype +MONDO:0015833 pseudounicornuate uterus 01-disease-subtype +MONDO:0015846 syndromic uterovaginal malformation 02-disease-root +MONDO:0015852 excess breast volume or number 02-disease-root +MONDO:0015853 deficient breast volume or number 03-disease-area +MONDO:0015855 isolated congenital breast hypoplasia/aplasia 02-disease-root +MONDO:0015856 syndromic breast hypoplasia/aplasia 02-disease-root +MONDO:0015860 anomaly of puberty or/and menstrual cycle 03-disease-area +MONDO:0015864 mixed germ cell tumor 03-disease-area +MONDO:0015867 vaginal carcinoma 01-disease-subtype +MONDO:0015883 hidrotic ectodermal dysplasia, Halal type 02-disease-root +MONDO:0015884 autosomal dominant hypohidrotic ectodermal dysplasia 01-disease-subtype +MONDO:0015892 growth hormone insensitivity syndrome 02-disease-root +MONDO:0015898 adrenogenital syndrome 03-disease-area +MONDO:0015900 hypoaldosteronism disease 03-disease-area +MONDO:0015902 major hypertriglyceridemia 03-disease-area +MONDO:0015903 hyperalphalipoproteinemia 01-disease-subtype +MONDO:0015905 syndromic dyslipidemia 03-disease-area +MONDO:0015909 aplastic anemia 01-disease-subtype +MONDO:0015914 primary orthostatic hypotension 03-disease-area +MONDO:0015915 cerebellar malformation 03-disease-area +MONDO:0015921 ARX-related epileptic encephalopathy 03-disease-area +MONDO:0015923 acquired peripheral neuropathy 03-disease-area +MONDO:0015926 pneumoconiosis 02-disease-root +MONDO:0015929 thoracic malformation 02-disease-root +MONDO:0015930 respiratory malformation 02-disease-root +MONDO:0015932 non-syndromic urogenital tract malformation of female 01-disease-subtype +MONDO:0015933 non-syndromic urogenital tract malformation of male 01-disease-subtype +MONDO:0015934 non-syndromic urogenital tract malformation of male and female 01-disease-subtype +MONDO:0015941 epiphyseal dysplasia-hearing loss-dysmorphism syndrome 02-disease-root +MONDO:0015942 frontometaphyseal dysplasia 02-disease-root +MONDO:0015944 axial mesodermal dysplasia spectrum 02-disease-root +MONDO:0015947 inherited ichthyosis 03-disease-area +MONDO:0015950 inherited skin tumor 03-disease-area +MONDO:0015951 hereditary photodermatosis 03-disease-area +MONDO:0015953 genetic central nervous system and retinal vascular disease 03-disease-area +MONDO:0015961 genetic head and neck malformation 03-disease-area +MONDO:0015962 inherited renal tubular disease 03-disease-area +MONDO:0015974 severe combined immunodeficiency 03-disease-area +MONDO:0015975 hyper-IgM syndrome with susceptibility to opportunistic infections 01-disease-subtype +MONDO:0015976 hyper-IgM syndrome without susceptibility to opportunistic infections 01-disease-subtype +MONDO:0015977 agammaglobulinemia 02-disease-root +MONDO:0015978 functional neutrophil defect 03-disease-area +MONDO:0015985 bone dysplasia, Azouz type 02-disease-root +MONDO:0015986 bilateral renal agenesis 01-disease-subtype +MONDO:0015988 multicystic dysplastic kidney 01-disease-subtype +MONDO:0015990 focal, segmental or multifocal dystonia 02-disease-root +MONDO:0015991 citrullinemia 01-disease-subtype +MONDO:0015993 cone-rod dystrophy 02-disease-root +MONDO:0015994 muscular dystrophy-white matter spongiosis syndrome 02-disease-root +MONDO:0015995 melorheostosis with osteopoikilosis 01-disease-subtype +MONDO:0015997 ectopia lentis-chorioretinal dystrophy-myopia syndrome 02-disease-root +MONDO:0015998 isolated ectopia lentis 02-disease-root +MONDO:0015999 primary pigmented nodular adrenocortical disease 02-disease-root +MONDO:0016000 familial isolated hypoparathyroidism due to impaired PTH secretion 01-disease-subtype +MONDO:0016001 2-hydroxyglutaric aciduria 02-disease-root +MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 01-disease-subtype +MONDO:0016003 ehrlichiosis 01-disease-subtype +MONDO:0016006 Cockayne syndrome 02-disease-root +MONDO:0016009 fetal trimethadione syndrome 01-disease-subtype +MONDO:0016020 frontal encephalocele 01-disease-subtype +MONDO:0016022 early myoclonic encephalopathy 01-disease-subtype +MONDO:0016024 shoulder and thorax deformity-congenital heart disease syndrome 01-disease-subtype +MONDO:0016025 myoclonic-astastic epilepsy 01-disease-subtype +MONDO:0016027 benign neonatal seizures 02-disease-root +MONDO:0016028 erythromelalgia 01-disease-subtype +MONDO:0016030 Evans syndrome 01-disease-subtype +MONDO:0016032 femoral agenesis/hypoplasia 02-disease-root +MONDO:0016033 Cornelia de Lange syndrome 02-disease-root +MONDO:0016040 harlequin syndrome 02-disease-root +MONDO:0016045 tetragametic chimerism 01-disease-subtype +MONDO:0016046 familial clubfoot with or without associated lower limb anomalies 02-disease-root +MONDO:0016047 endophthalmitis 02-disease-root +MONDO:0016048 isolated autosomal dominant hypomagnesemia, Glaudemans type 01-disease-subtype +MONDO:0016049 congenital myopathy, Paradas type 01-disease-subtype +MONDO:0016051 cleft lip-retinopathy syndrome 02-disease-root +MONDO:0016052 atypical autism 02-disease-root +MONDO:0016054 cerebral malformation 03-disease-area +MONDO:0016056 isolated congenital microcephaly 01-disease-subtype +MONDO:0016057 isolated encephalocele 01-disease-subtype +MONDO:0016058 paroxysmal dystonia 02-disease-root +MONDO:0016059 cleft lip/palate-deafness-sacral lipoma syndrome 02-disease-root +MONDO:0016060 laryngotracheoesophageal cleft 01-disease-subtype +MONDO:0016061 immunodeficiency with factor H anomaly 01-disease-subtype +MONDO:0016063 Cowden disease 02-disease-root +MONDO:0016064 cleft palate 01-disease-subtype +MONDO:0016065 cleft palate-short stature-vertebral anomalies syndrome 02-disease-root +MONDO:0016067 Crandall syndrome 01-disease-subtype +MONDO:0016068 fibrochondrogenesis 02-disease-root +MONDO:0016070 hereditary gingival fibromatosis 02-disease-root +MONDO:0016071 juvenile hyaline fibromatosis 01-disease-subtype +MONDO:0016072 anomaly of puberty or/and menstrual cycle of genetic origin 03-disease-area +MONDO:0016073 syndromic microphthalmia 02-disease-root +MONDO:0016075 filariasis 02-disease-root +MONDO:0016083 FLOTCH syndrome 01-disease-subtype +MONDO:0016085 Cole-Carpenter syndrome 02-disease-root +MONDO:0016087 progressive non-infectious anterior vertebral fusion 02-disease-root +MONDO:0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency 01-disease-subtype +MONDO:0016089 infantile Krabbe disease 01-disease-subtype +MONDO:0016090 late-infantile/juvenile Krabbe disease 01-disease-subtype +MONDO:0016091 adult Krabbe disease 01-disease-subtype +MONDO:0016096 malignant non-dysgerminomatous germ cell tumor of ovary 01-disease-subtype +MONDO:0016097 symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers 01-disease-subtype +MONDO:0016103 isolated asymptomatic elevation of creatine phosphokinase 01-disease-subtype +MONDO:0016105 acquired skeletal muscle disease 03-disease-area +MONDO:0016106 progressive muscular dystrophy 03-disease-area +MONDO:0016107 myotonic dystrophy 02-disease-root +MONDO:0016108 autosomal dominant distal myopathy 03-disease-area +MONDO:0016109 autosomal recessive distal myopathy 03-disease-area +MONDO:0016110 non-dystrophic myopathy 03-disease-area +MONDO:0016112 inclusion myopathy 02-disease-root +MONDO:0016113 bulbospinal muscular atrophy 02-disease-root +MONDO:0016114 bulbospinal muscular atrophy of childhood 01-disease-subtype +MONDO:0016115 bulbospinal muscular atrophy of adulthood 01-disease-subtype +MONDO:0016116 generalized bulbospinal muscular atrophy 01-disease-subtype +MONDO:0016117 muscular lipidosis 03-disease-area +MONDO:0016118 muscular glycogenosis 03-disease-area +MONDO:0016120 myotonic syndrome 03-disease-area +MONDO:0016121 congenital myotonia 02-disease-root +MONDO:0016122 periodic paralysis 03-disease-area +MONDO:0016123 muscular tumor 03-disease-area +MONDO:0016125 infectious, fungal or parasitic myopathy 02-disease-root +MONDO:0016127 bacterial myositis 01-disease-subtype +MONDO:0016139 qualitative or quantitative protein defects in neuromuscular diseases 03-disease-area +MONDO:0016140 sarcoglycanopathy 03-disease-area +MONDO:0016141 qualitative or quantitative defects of alpha-sarcoglycan 02-disease-root +MONDO:0016142 qualitative or quantitative defects of beta-sarcoglycan 02-disease-root +MONDO:0016143 qualitative or quantitative defects of gamma-sarcoglycan 02-disease-root +MONDO:0016144 qualitative or quantitative defects of delta-sarcoglycan 02-disease-root +MONDO:0016145 qualitative or quantitative defects of dysferlin 02-disease-root +MONDO:0016146 caveolinopathy 02-disease-root +MONDO:0016147 qualitative or quantitative defects of dystrophin 02-disease-root +MONDO:0016149 qualitative or quantitative defects of merosin 02-disease-root +MONDO:0016150 qualitative or quantitative defects of integrin alpha-7 02-disease-root +MONDO:0016151 qualitative or quantitative defects of perlecan 02-disease-root +MONDO:0016152 qualitative or quantitative defects of calpain 02-disease-root +MONDO:0016153 qualitative or quantitative defects of TRIM32 02-disease-root +MONDO:0016154 qualitative or quantitative defects of myotubularin 02-disease-root +MONDO:0016155 qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan 03-disease-area +MONDO:0016156 qualitative or quantitative defects of FKRP 02-disease-root +MONDO:0016157 qualitative or quantitative defects of fukutin 02-disease-root +MONDO:0016158 narcolepsy-cataplexy syndrome 01-disease-subtype +MONDO:0016160 X-linked intellectual disability-epilepsy syndrome 01-disease-subtype +MONDO:0016162 bilateral frontal polymicrogyria 01-disease-subtype +MONDO:0016163 autosomal dominant cerebellar ataxia type II 01-disease-subtype +MONDO:0016165 genetic hypoparathyroidism 03-disease-area +MONDO:0016166 genetic hyperparathyroidism 03-disease-area +MONDO:0016167 optic pathway glioma 01-disease-subtype +MONDO:0016168 cryopyrin-associated periodic syndrome 02-disease-root +MONDO:0016169 chronic acquired demyelinating polyneuropathy 03-disease-area +MONDO:0016170 chronic polyradiculoneuropathy 01-disease-subtype +MONDO:0016175 cutis laxa 02-disease-root +MONDO:0016179 acquired amyloid peripheral neuropathy 02-disease-root +MONDO:0016182 qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase 02-disease-root +MONDO:0016183 qualitative or quantitative defects of protein glycosyltransferase-like 02-disease-root +MONDO:0016184 qualitative or quantitative defects of protein O-mannosyltransferase 1 02-disease-root +MONDO:0016185 qualitative or quantitative defects of protein O-mannosyltransferase 2 02-disease-root +MONDO:0016186 qualitative or quantitative defects of myofibrillar proteins 03-disease-area +MONDO:0016187 qualitative or quantitative defects of desmin 02-disease-root +MONDO:0016188 qualitative or quantitative defects of alphaB-cristallin 02-disease-root +MONDO:0016189 qualitative or quantitative defects of filamin C 02-disease-root +MONDO:0016190 qualitative or quantitative defects of protein ZASP 02-disease-root +MONDO:0016191 qualitative or quantitative defects of titin 02-disease-root +MONDO:0016192 qualitative or quantitative defects of telethonin 02-disease-root +MONDO:0016193 qualitative or quantitative defects of alpha-actin 02-disease-root +MONDO:0016194 qualitative or quantitative defects of nebulin 02-disease-root +MONDO:0016195 qualitative or quantitative defects of beta-myosin heavy chain (MYH7) 02-disease-root +MONDO:0016196 qualitative or quantitative defects of emerin 02-disease-root +MONDO:0016197 qualitative or quantitative defects of selenoprotein N1 02-disease-root +MONDO:0016198 qualitative or quantitative defects of plectin 02-disease-root +MONDO:0016199 qualitative or quantitative defects of protein SERCA1 02-disease-root +MONDO:0016200 qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase - 02-disease-root +MONDO:0016201 qualitative or quantitative defects of myotilin 02-disease-root +MONDO:0016202 autosomal dominant rhegmatogenous retinal detachment 01-disease-subtype +MONDO:0016203 hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency 01-disease-subtype +MONDO:0016205 IRVAN syndrome 02-disease-root +MONDO:0016209 benign familial nocturnal alternating hemiplegia of childhood 01-disease-subtype +MONDO:0016210 alternating hemiplegia 02-disease-root +MONDO:0016213 leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome 01-disease-subtype +MONDO:0016215 spastic quadriplegic cerebral palsy 02-disease-root +MONDO:0016222 spindle cell hemangioma 01-disease-subtype +MONDO:0016223 infantile hemangioma of rare localization 02-disease-root +MONDO:0016224 autosomal dominant proximal spinal muscular atrophy 01-disease-subtype +MONDO:0016226 specific language disorder 02-disease-root +MONDO:0016227 hereditary episodic ataxia 02-disease-root +MONDO:0016229 genetic vascular anomaly 03-disease-area +MONDO:0016230 simple vascular malformation 03-disease-area +MONDO:0016231 capillary malformation 03-disease-area +MONDO:0016236 kaposiform hemangioendothelioma 01-disease-subtype +MONDO:0016238 solitary fibrous tumor 02-disease-root +MONDO:0016239 cystinosis 01-disease-subtype +MONDO:0016240 hemimelia 02-disease-root +MONDO:0016241 alternating hemiplegia of childhood 02-disease-root +MONDO:0016242 hemoglobin C disease 01-disease-subtype +MONDO:0016243 hemoglobin E disease 01-disease-subtype +MONDO:0016244 atypical hemolytic-uremic syndrome 01-disease-subtype +MONDO:0016248 familial ovarian cancer 01-disease-subtype +MONDO:0016249 hereditary site-specific ovarian cancer syndrome 01-disease-subtype +MONDO:0016255 uterine corpus mixed epithelial and mesenchymal neoplasm 03-disease-area +MONDO:0016256 Hennekam syndrome 02-disease-root +MONDO:0016259 carcinosarcoma of the corpus uteri 01-disease-subtype +MONDO:0016260 uterine corpus rhabdomyosarcoma 01-disease-subtype +MONDO:0016275 adenocarcinoma of cervix uteri 03-disease-area +MONDO:0016277 malignant mixed epithelial and mesenchymal tumor of cervix uteri 01-disease-subtype +MONDO:0016281 46,XX ovotesticular disorder of sex development 01-disease-subtype +MONDO:0016286 adenoid cystic carcinoma of the cervix uteri 01-disease-subtype +MONDO:0016290 Hernández-Aguirre Negrete syndrome 01-disease-subtype +MONDO:0016291 craniosynostosis, Herrmann-Opitz type 02-disease-root +MONDO:0016292 nodular neuronal heterotopia 02-disease-root +MONDO:0016293 congenital stationary night blindness 02-disease-root +MONDO:0016294 Hirschsprung disease-type D brachydactyly syndrome 02-disease-root +MONDO:0016295 neuronal ceroid lipofuscinosis 02-disease-root +MONDO:0016296 holoprosencephaly 02-disease-root +MONDO:0016297 prelingual non-syndromic genetic hearing loss 01-disease-subtype +MONDO:0016298 postlingual non-syndromic genetic hearing loss 03-disease-area +MONDO:0016302 isolated congenitally uncorrected transposition of the great arteries 01-disease-subtype +MONDO:0016303 congenitally uncorrected transposition of the great arteries with cardiac malformation 01-disease-subtype +MONDO:0016304 classic pantothenate kinase-associated neurodegeneration 01-disease-subtype +MONDO:0016305 atypical pantothenate kinase-associated neurodegeneration 01-disease-subtype +MONDO:0016306 Niemann-Pick disease type C, severe perinatal form 01-disease-subtype +MONDO:0016307 Niemann-Pick disease type C, severe early infantile neurologic onset 01-disease-subtype +MONDO:0016308 Niemann-Pick disease type C, late infantile neurologic onset 01-disease-subtype +MONDO:0016309 Niemann-Pick disease type C, juvenile neurologic onset 01-disease-subtype +MONDO:0016310 Niemann-Pick disease type C, adult neurologic onset 01-disease-subtype +MONDO:0016315 mucopolysaccharidosis type 2, severe form 01-disease-subtype +MONDO:0016316 mucopolysaccharidosis type 2, attenuated form 01-disease-subtype +MONDO:0016319 congenital insensitivity to pain with hyperhidrosis 01-disease-subtype +MONDO:0016322 neuroendocrine cell hyperplasia of infancy 01-disease-subtype +MONDO:0016323 chronic respiratory distress with surfactant metabolism deficiency 01-disease-subtype +MONDO:0016330 non-familial hypertrophic cardiomyopathy 01-disease-subtype +MONDO:0016331 infantile systemic hyalinosis 01-disease-subtype +MONDO:0016333 familial dilated cardiomyopathy 03-disease-area +MONDO:0016338 non-familial dilated cardiomyopathy 01-disease-subtype +MONDO:0016340 familial restrictive cardiomyopathy 02-disease-root +MONDO:0016342 familial isolated arrhythmogenic right ventricular dysplasia 02-disease-root +MONDO:0016344 hydranencephaly 01-disease-subtype +MONDO:0016346 hydrocephalus-obesity-hypogonadism syndrome 02-disease-root +MONDO:0016349 congenital hydrocephalus 02-disease-root +MONDO:0016350 hydrocephalus-blue sclerae-nephropathy syndrome 01-disease-subtype +MONDO:0016352 idiopathic inherited hypercalciuria 02-disease-root +MONDO:0016353 palmoplantar keratoderma-spastic paralysis syndrome 01-disease-subtype +MONDO:0016354 xeroderma pigmentosum-Cockayne syndrome complex 02-disease-root +MONDO:0016355 semilobar holoprosencephaly 01-disease-subtype +MONDO:0016357 dysplastic cortical hyperostosis 02-disease-root +MONDO:0016360 marcothrombocytopenia with mitral valve insufficiency 02-disease-root +MONDO:0016361 isolated hereditary giant platelet disorder 03-disease-area +MONDO:0016362 attenuated familial adenomatous polyposis 01-disease-subtype +MONDO:0016364 Joubert syndrome with ocular defect 02-disease-root +MONDO:0016365 familial primary hyperparathyroidism 01-disease-subtype +MONDO:0016366 maternal phenylketonuria 01-disease-subtype +MONDO:0016368 Rothmund-Thomson syndrome type 1 01-disease-subtype +MONDO:0016369 Rothmund-Thomson syndrome type 2 01-disease-subtype +MONDO:0016374 cranial neuralgia 03-disease-area +MONDO:0016375 acquired peripheral movement disorder 02-disease-root +MONDO:0016377 Pitt-Hopkins-like syndrome 01-disease-subtype +MONDO:0016381 hypertrichosis lanuginosa congenita 01-disease-subtype +MONDO:0016382 hereditary poikiloderma 03-disease-area +MONDO:0016383 nephrogenic diabetes insipidus 01-disease-subtype +MONDO:0016384 hypogonadotropic hypogonadism-frontoparietal alopecia syndrome 02-disease-root +MONDO:0016385 hypogonadism-mitral valve prolapse-intellectual disability syndrome 02-disease-root +MONDO:0016386 hypogonadotropic hypogonadism-retinitis pigmentosa syndrome 02-disease-root +MONDO:0016387 mitochondrial oxidative phosphorylation disorder 03-disease-area +MONDO:0016390 familial hypoparathyroidism 02-disease-root +MONDO:0016391 neonatal diabetes mellitus 01-disease-subtype +MONDO:0016393 hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome 01-disease-subtype +MONDO:0016394 sporadic infantile bilateral striatal necrosis 01-disease-subtype +MONDO:0016395 foveal hypoplasia-presenile cataract syndrome 02-disease-root +MONDO:0016396 pontocerebellar hypoplasia type 1 01-disease-subtype +MONDO:0016408 permanent congenital hypothyroidism 03-disease-area +MONDO:0016409 primary congenital hypothyroidism 02-disease-root +MONDO:0016410 central congenital hypothyroidism 02-disease-root +MONDO:0016411 hypothyroidism due to deficient transcription factors involved in pituitary development or function 01-disease-subtype +MONDO:0016412 peripheral hypothyroidism 02-disease-root +MONDO:0016414 hypotrichosis-intellectual disability, Lopes type 02-disease-root +MONDO:0016417 congenital ichthyosis-microcephalus-tetraplegia syndrome 02-disease-root +MONDO:0016419 hereditary breast carcinoma 01-disease-subtype +MONDO:0016420 familial flecked retinopathy 03-disease-area +MONDO:0016424 progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome 02-disease-root +MONDO:0016428 multiple sclerosis variant 03-disease-area +MONDO:0016431 autosomal dominant Charcot-Marie-Tooth disease type 2M 01-disease-subtype +MONDO:0016432 heart-hand syndrome 02-disease-root +MONDO:0016433 dysmorphism-short stature-deafness-disorder of sex development syndrome 01-disease-subtype +MONDO:0016434 acquired dermis elastic tissue disorder 02-disease-root +MONDO:0016441 acquired pseudoxanthoma elasticum 01-disease-subtype +MONDO:0016445 familial anetoderma 02-disease-root +MONDO:0016446 acquired cutis laxa 01-disease-subtype +MONDO:0016454 severe early-onset axonal neuropathy due to NEFL deficiency 01-disease-subtype +MONDO:0016456 5q14.3 microdeletion syndrome 01-disease-subtype +MONDO:0016457 ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome 01-disease-subtype +MONDO:0016458 8q12 microduplication syndrome 01-disease-subtype +MONDO:0016459 2q23.1 microdeletion syndrome 01-disease-subtype +MONDO:0016460 polyvalvular heart disease syndrome 02-disease-root +MONDO:0016461 5q35 microduplication syndrome 01-disease-subtype +MONDO:0016462 isolated agammaglobulinemia 01-disease-subtype +MONDO:0016463 syndromic agammaglobulinemia 01-disease-subtype +MONDO:0016464 insulin-resistance syndrome type B 01-disease-subtype +MONDO:0016469 Ehlers-Danlos syndrome, vascular-like type 01-disease-subtype +MONDO:0016470 Ehlers-Danlos/osteogenesis imperfecta syndrome 02-disease-root +MONDO:0016471 pachyonychia congenita 02-disease-root +MONDO:0016473 familial rhabdoid tumor 02-disease-root +MONDO:0016474 drug-induced lupus erythematosus 01-disease-subtype +MONDO:0016475 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 01-disease-subtype +MONDO:0016476 Beckwith-Wiedemann syndrome due to CDKN1C mutation 01-disease-subtype +MONDO:0016477 Beckwith-Wiedemann syndrome due to 11p15 microdeletion 01-disease-subtype +MONDO:0016478 Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion 01-disease-subtype +MONDO:0016479 silver-Russell syndrome due to 7p11.2p13 microduplication 01-disease-subtype +MONDO:0016480 silver-Russell syndrome due to an imprinting defect of 11p15 01-disease-subtype +MONDO:0016481 silver-Russell syndrome due to 11p15 microduplication 01-disease-subtype +MONDO:0016482 silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 01-disease-subtype +MONDO:0016483 intracranial berry aneurysm 02-disease-root +MONDO:0016484 Usher syndrome type 2 01-disease-subtype +MONDO:0016485 Usher syndrome type 3 01-disease-subtype +MONDO:0016486 beta-thalassemia major 01-disease-subtype +MONDO:0016487 beta-thalassemia intermedia 01-disease-subtype +MONDO:0016489 delta-beta-thalassemia 02-disease-root +MONDO:0016490 hemoglobin C-beta-thalassemia syndrome 02-disease-root +MONDO:0016491 hemoglobin E-beta-thalassemia syndrome 02-disease-root +MONDO:0016493 variant of Guillain-Barre syndrome 01-disease-subtype +MONDO:0016494 regional variant of Guillain-Barre syndrome 03-disease-area +MONDO:0016501 Hermansky-Pudlak syndrome with pulmonary fibrosis 01-disease-subtype +MONDO:0016502 Hermansky-Pudlak syndrome without pulmonary fibrosis 01-disease-subtype +MONDO:0016510 epibulbar lipodermoid-preauricular appendage-polythelia syndrome 02-disease-root +MONDO:0016511 infectious embryofetopathy 03-disease-area +MONDO:0016512 Kabuki syndrome 02-disease-root +MONDO:0016513 alpha-thalassemia-related diseases 02-disease-root +MONDO:0016514 epidermolysis bullosa simplex with anodontia/hypodontia 01-disease-subtype +MONDO:0016515 Kallmann syndrome-heart disease syndrome 02-disease-root +MONDO:0016516 Kenny-Caffey syndrome 02-disease-root +MONDO:0016518 isolated punctate palmoplantar keratoderma 01-disease-subtype +MONDO:0016520 isolated Klippel-Feil syndrome 01-disease-subtype +MONDO:0016521 muscular pseudohypertrophy-hypothyroidism syndrome 01-disease-subtype +MONDO:0016524 congenital vascular bone syndrome 03-disease-area +MONDO:0016525 familial hyperaldosteronism 02-disease-root +MONDO:0016526 trisomy 9p 01-disease-subtype +MONDO:0016527 glycogen storage disease due to lactate dehydrogenase deficiency 02-disease-root +MONDO:0016529 duplication of urethra 01-disease-subtype +MONDO:0016531 digestive duplication 01-disease-subtype +MONDO:0016532 Lennox-Gastaut syndrome 01-disease-subtype +MONDO:0016533 apolipoprotein A-II amyloidosis 01-disease-subtype +MONDO:0016535 hypohidrotic ectodermal dysplasia 02-disease-root +MONDO:0016536 autosomal recessive lymphoproliferative disease 02-disease-root +MONDO:0016537 lymphoproliferative syndrome 03-disease-area +MONDO:0016539 atypical hypotonia-cystinuria syndrome 01-disease-subtype +MONDO:0016540 congenital secondary polycythemia 01-disease-subtype +MONDO:0016541 acquired secondary polycythemia 01-disease-subtype +MONDO:0016542 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome 01-disease-subtype +MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency 01-disease-subtype +MONDO:0016545 leukoencephalopathy-palmoplantar keratoderma syndrome 02-disease-root +MONDO:0016547 Beckwith-Wiedemann syndrome due to NSD1 mutation 01-disease-subtype +MONDO:0016549 primary megaureter, adult-onset form 01-disease-subtype +MONDO:0016550 congenital primary megaureter, obstructed form 01-disease-subtype +MONDO:0016551 congenital primary megaureter, refluxing form 01-disease-subtype +MONDO:0016552 congenital primary megaureter, nonrefluxing and unobstructed form 01-disease-subtype +MONDO:0016553 isolated congenital hypogonadotropic hypogonadism 01-disease-subtype +MONDO:0016556 transient congenital hypothyroidism due to neonatal factor 01-disease-subtype +MONDO:0016557 leukonychia totalis 01-disease-subtype +MONDO:0016558 familial congenital mirror movements 02-disease-root +MONDO:0016559 glaucoma secondary to spherophakia/ectopia lentis and megalocornea 01-disease-subtype +MONDO:0016560 ptosis-syndactyly-learning difficulties syndrome 02-disease-root +MONDO:0016561 1q44 microdeletion syndrome 01-disease-subtype +MONDO:0016562 progressive supranuclear palsy-pure akinesia with gait freezing syndrome 01-disease-subtype +MONDO:0016563 progressive supranuclear palsy-corticobasal syndrome 01-disease-subtype +MONDO:0016564 progressive supranuclear palsy-progressive non-fluent aphasia syndrome 01-disease-subtype +MONDO:0016565 syndromic genetic obesity 03-disease-area +MONDO:0016568 Lowe-Kohn-Cohen syndrome 02-disease-root +MONDO:0016571 macrocephaly-short stature-paraplegia syndrome 02-disease-root +MONDO:0016572 central bilateral macrogyria 01-disease-subtype +MONDO:0016574 hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome 02-disease-root +MONDO:0016575 primary ciliary dyskinesia 02-disease-root +MONDO:0016576 split hand-foot malformation 02-disease-root +MONDO:0016579 dominant hypophosphatemia with nephrolithiasis or osteoporosis 02-disease-root +MONDO:0016581 conotruncal heart malformations 02-disease-root +MONDO:0016583 familial intestinal malrotation-facial anomalies syndrome 01-disease-subtype +MONDO:0016584 mandibuloacral dysplasia 02-disease-root +MONDO:0016586 systemic mastocytosis 02-disease-root +MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy 01-disease-subtype +MONDO:0016589 progressive cerebello-cerebral atrophy 02-disease-root +MONDO:0016593 acquired ataxia 02-disease-root +MONDO:0016596 hyperphosphatasia-intellectual disability syndrome 02-disease-root +MONDO:0016598 autosomal recessive secondary polycythemia not associated with VHL gene 01-disease-subtype +MONDO:0016599 autosomal dominant secondary polycythemia 01-disease-subtype +MONDO:0016600 acute neonatal citrullinemia type I 01-disease-subtype +MONDO:0016601 adult-onset citrullinemia type I 01-disease-subtype +MONDO:0016602 citrin deficiency 01-disease-subtype +MONDO:0016603 citrullinemia type II 01-disease-subtype +MONDO:0016604 dysraphism-cleft lip/palate-limb reduction defects syndrome 02-disease-root +MONDO:0016605 perinatal lethal hypophosphatasia 01-disease-subtype +MONDO:0016607 odontohypophosphatasia 01-disease-subtype +MONDO:0016608 megalencephaly 02-disease-root +MONDO:0016611 lipoblastoma 02-disease-root +MONDO:0016612 X-linked cerebellar ataxia 02-disease-root +MONDO:0016613 APC-related attenuated familial adenomatous polyposis 01-disease-subtype +MONDO:0016614 autosomal recessive ataxia due to PEX10 deficiency 01-disease-subtype +MONDO:0016619 autosomal recessive hypohidrotic ectodermal dysplasia 01-disease-subtype +MONDO:0016620 primary hypertrophic osteoarthropathy 02-disease-root +MONDO:0016621 juvenile Huntington disease 01-disease-subtype +MONDO:0016622 Melhem-Fahl syndrome 02-disease-root +MONDO:0016624 inherited deficiency anemia 02-disease-root +MONDO:0016625 acquired deficiency anemia 02-disease-root +MONDO:0016630 isolated delta-storage pool disease 01-disease-subtype +MONDO:0016638 familial hypodysfibrinogenemia 01-disease-subtype +MONDO:0016639 lower limb deficiency-hypospadias syndrome 02-disease-root +MONDO:0016641 limb transversal defect-cardiac anomaly syndrome 02-disease-root +MONDO:0016642 meningioma 02-disease-root +MONDO:0016643 frontonasal dysplasia 02-disease-root +MONDO:0016646 autosomal dominant optic atrophy and peripheral neuropathy 01-disease-subtype +MONDO:0016647 autosomal recessive Stickler syndrome 01-disease-subtype +MONDO:0016648 multiple epiphyseal dysplasia 02-disease-root +MONDO:0016649 Warburg micro syndrome 02-disease-root +MONDO:0016650 paternal uniparental disomy of chromosome 1 01-disease-subtype +MONDO:0016651 maternal uniparental disomy of chromosome 1 01-disease-subtype +MONDO:0016652 2q31.1 microdeletion syndrome 01-disease-subtype +MONDO:0016653 2q33.1 microdeletion syndrome 01-disease-subtype +MONDO:0016654 ring chromosome 5 01-disease-subtype +MONDO:0016655 6p22 microdeletion syndrome 01-disease-subtype +MONDO:0016656 7q31 microdeletion syndrome 01-disease-subtype +MONDO:0016657 8p11.2 deletion syndrome 01-disease-subtype +MONDO:0016658 8p23.1 microdeletion syndrome 01-disease-subtype +MONDO:0016659 8p23.1 duplication syndrome 01-disease-subtype +MONDO:0016660 autosomal recessive primary microcephaly 02-disease-root +MONDO:0016663 overlapping connective tissue disease 03-disease-area +MONDO:0016667 sickle cell disease associated with an other hemoglobin anomaly 01-disease-subtype +MONDO:0016668 sickle cell-beta-thalassemia disease syndrome 01-disease-subtype +MONDO:0016669 sickle cell-hemoglobin c disease syndrome 01-disease-subtype +MONDO:0016670 sickle cell-hemoglobin d disease syndrome 01-disease-subtype +MONDO:0016671 sickle cell-hemoglobin E disease syndrome 01-disease-subtype +MONDO:0016672 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome 01-disease-subtype +MONDO:0016673 localized junctional epidermolysis bullosa, non-Herlitz type 01-disease-subtype +MONDO:0016674 46,XY partial gonadal dysgenesis 01-disease-subtype +MONDO:0016675 distal arthrogryposis type 10 01-disease-subtype +MONDO:0016676 recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome 01-disease-subtype +MONDO:0016677 toxic or drug-related embryofetopathy 03-disease-area +MONDO:0016678 maternal disease-related embryofetopathy 02-disease-root +MONDO:0016680 high grade astrocytic tumor 03-disease-area +MONDO:0016683 gliomatosis cerebri 01-disease-subtype +MONDO:0016685 low-grade astrocytoma 01-disease-subtype +MONDO:0016690 pleomorphic xanthoastrocytoma 01-disease-subtype +MONDO:0016691 pilocytic astrocytoma 01-disease-subtype +MONDO:0016692 pilomyxoid astrocytoma 01-disease-subtype +MONDO:0016693 subependymal giant cell astrocytoma 01-disease-subtype +MONDO:0016697 low grade ependymoma 01-disease-subtype +MONDO:0016700 anaplastic ependymoma 01-disease-subtype +MONDO:0016701 oligoastrocytic tumor 02-disease-root +MONDO:0016707 astroblastoma 02-disease-root +MONDO:0016708 embryonal tumor of neuroepithelial tissue 03-disease-area +MONDO:0016710 medulloblastoma with extensive nodularity 01-disease-subtype +MONDO:0016712 classic medulloblastoma 01-disease-subtype +MONDO:0016713 central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor 01-disease-subtype +MONDO:0016715 ependymoblastoma 01-disease-subtype +MONDO:0016717 choroid plexus neoplasm 03-disease-area +MONDO:0016718 choroid plexus carcinoma 01-disease-subtype +MONDO:0016719 microcephaly-seizures-intellectual disability-heart disease syndrome 02-disease-root +MONDO:0016721 pineal tumor of neuroepithelial tissue 02-disease-root +MONDO:0016726 neuronal tumor 02-disease-root +MONDO:0016729 mixed neuronal-glial tumor 03-disease-area +MONDO:0016730 gangliocytoma 02-disease-root +MONDO:0016735 papillary glioneuronal tumor 02-disease-root +MONDO:0016736 rosette-forming glioneuronal tumor of fourth ventricule 02-disease-root +MONDO:0016738 primary germ cell tumor of central nervous system 03-disease-area +MONDO:0016742 mixed germ cell tumor of central nervous system 01-disease-subtype +MONDO:0016744 primary melanocytic tumor of central nervous system 02-disease-root +MONDO:0016747 primary melanoma of the central nervous system 01-disease-subtype +MONDO:0016748 hemangioblastoma 01-disease-subtype +MONDO:0016749 tumor of cranial and spinal nerves 03-disease-area +MONDO:0016750 microcephaly-cleft palate syndrome 02-disease-root +MONDO:0016752 benign peripheral nerve sheath tumor 02-disease-root +MONDO:0016756 inherited nervous system cancer-predisposing syndrome 03-disease-area +MONDO:0016757 malignant triton tumor 01-disease-subtype +MONDO:0016758 microcephaly-brain defect-spasticity-hypernatremia syndrome 02-disease-root +MONDO:0016759 pontocerebellar hypoplasia type 2 01-disease-subtype +MONDO:0016760 microcephaly-microcornea syndrome, Seemanova type 02-disease-root +MONDO:0016761 spondyloepiphyseal dysplasia 02-disease-root +MONDO:0016762 microcornea-corectopia-macular hypoplasia syndrome 02-disease-root +MONDO:0016763 spondylometaphyseal dysplasia 03-disease-area +MONDO:0016764 isolated anophthalmia-microphthalmia syndrome 02-disease-root +MONDO:0016765 19p13.12 microdeletion syndrome 01-disease-subtype +MONDO:0016778 iatrogenic botulism 01-disease-subtype +MONDO:0016779 multiple congenital anomalies due to 14q32.2 maternally expressed gene defect 02-disease-root +MONDO:0016780 paternal 14q32.2 microdeletion syndrome 01-disease-subtype +MONDO:0016781 maternal 14q32.2 microdeletion syndrome 01-disease-subtype +MONDO:0016782 paternal 14q32.2 hypomethylation syndrome 01-disease-subtype +MONDO:0016783 maternal 14q32.2 hypermethylation syndrome 01-disease-subtype +MONDO:0016784 gestational trophoblastic disease 03-disease-area +MONDO:0016785 complete hydatidiform mole 01-disease-subtype +MONDO:0016789 pyruvate metabolism disorder 02-disease-root +MONDO:0016790 tricarboxylic acid cycle disorder 02-disease-root +MONDO:0016794 maternally-inherited mitochondrial myopathy 03-disease-area +MONDO:0016796 mitochondrial DNA depletion syndrome, encephalomyopathic form 01-disease-subtype +MONDO:0016797 multiple mitochondrial DNA deletion syndrome 03-disease-area +MONDO:0016798 ataxia neuropathy spectrum 02-disease-root +MONDO:0016800 mitochondrial membrane transport disorder 03-disease-area +MONDO:0016801 mitochondrial substrate carrier disorder 02-disease-root +MONDO:0016802 mitochondrial protein import disorder 02-disease-root +MONDO:0016803 unspecified inborn mitochondrial disorder 02-disease-root +MONDO:0016805 isolated oxidative phosphorylation complex disorder 02-disease-root +MONDO:0016806 maternally-inherited mitochondrial dystonia 02-disease-root +MONDO:0016807 pure mitochondrial myopathy 02-disease-root +MONDO:0016808 mitochondrial DNA depletion syndrome, hepatocerebral form 01-disease-subtype +MONDO:0016809 spinocerebellar ataxia with epilepsy 01-disease-subtype +MONDO:0016810 autosomal recessive progressive external ophthalmoplegia 01-disease-subtype +MONDO:0016811 renal tubulopathy-encephalopathy-liver failure syndrome 01-disease-subtype +MONDO:0016812 dopa-responsive dystonia 01-disease-subtype +MONDO:0016814 maternally-inherited Leigh syndrome 01-disease-subtype +MONDO:0016815 Leigh syndrome with leukodystrophy 01-disease-subtype +MONDO:0016816 Leigh syndrome with nephrotic syndrome 01-disease-subtype +MONDO:0016817 Meier-Gorlin syndrome 02-disease-root +MONDO:0016818 Mikati-Najjar-Sahli syndrome 02-disease-root +MONDO:0016819 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome 02-disease-root +MONDO:0016820 Moyamoya disease 02-disease-root +MONDO:0016821 shoulder and girdle defects-familial intellectual disability syndrome 02-disease-root +MONDO:0016824 infantile myofibromatosis 02-disease-root +MONDO:0016825 mitochondrial myopathy-lactic acidosis-deafness syndrome 02-disease-root +MONDO:0016826 methylmalonic aciduria and homocystinuria 02-disease-root +MONDO:0016827 myopathy-growth delay-intellectual disability-hypospadias syndrome 02-disease-root +MONDO:0016828 autosomal recessive sideroblastic anemia 01-disease-subtype +MONDO:0016829 familial visceral myopathy 01-disease-subtype +MONDO:0016830 Emery-Dreifuss muscular dystrophy 02-disease-root +MONDO:0016832 distal 7q11.23 microduplication syndrome 01-disease-subtype +MONDO:0016833 14q12 microdeletion syndrome 01-disease-subtype +MONDO:0016834 16p11.2p12.2 microduplication syndrome 01-disease-subtype +MONDO:0016835 14q11.2 microduplication syndrome 01-disease-subtype +MONDO:0016836 16p13.11 microdeletion syndrome 01-disease-subtype +MONDO:0016837 16p13.11 microduplication syndrome 01-disease-subtype +MONDO:0016838 16q24.3 microdeletion syndrome 01-disease-subtype +MONDO:0016839 distal 17p13.3 microdeletion syndrome 01-disease-subtype +MONDO:0016840 trisomy 17p 01-disease-subtype +MONDO:0016841 20p12.3 microdeletion syndrome 01-disease-subtype +MONDO:0016842 paternal 20q13.2q13.3 microdeletion syndrome 01-disease-subtype +MONDO:0016843 20q13.33 microdeletion syndrome 01-disease-subtype +MONDO:0016844 trisomy 20p 01-disease-subtype +MONDO:0016845 21q22.11q22.12 microdeletion syndrome 01-disease-subtype +MONDO:0016846 distal 22q11.2 microduplication syndrome 01-disease-subtype +MONDO:0016847 trisomy 1q 01-disease-subtype +MONDO:0016850 atypical Norrie disease due to monosomy Xp11.3 01-disease-subtype +MONDO:0016851 maternal uniparental disomy of chromosome X 02-disease-root +MONDO:0016852 paternal uniparental disomy of chromosome X 02-disease-root +MONDO:0016853 ring chromosome Y 01-disease-subtype +MONDO:0016854 49,XXXYY syndrome 01-disease-subtype +MONDO:0016855 Mowat-Wilson syndrome due to monosomy 2q22 01-disease-subtype +MONDO:0016856 Mowat-Wilson syndrome due to a ZEB2 point mutation 01-disease-subtype +MONDO:0016857 blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome 01-disease-subtype +MONDO:0016858 blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome 01-disease-subtype +MONDO:0016859 blepharophimosis-epicanthus inversus-ptosis due to copy number variations 01-disease-subtype +MONDO:0016860 familial adenomatous polyposis due to 5q22.2 microdeletion 01-disease-subtype +MONDO:0016861 Alagille syndrome due to 20p12 microdeletion 01-disease-subtype +MONDO:0016862 Alagille syndrome due to a JAG1 point mutation 01-disease-subtype +MONDO:0016863 Okihiro syndrome due to 20q13 microdeletion 01-disease-subtype +MONDO:0016864 Okihiro syndrome due to a point mutation 01-disease-subtype +MONDO:0016865 Kleefstra syndrome due to a point mutation 01-disease-subtype +MONDO:0016866 partial deletion of chromosome 1 01-disease-subtype +MONDO:0016867 partial deletion of chromosome 2 02-disease-root +MONDO:0016868 partial deletion of chromosome 3 01-disease-subtype +MONDO:0016869 partial deletion of chromosome 4 01-disease-subtype +MONDO:0016870 partial deletion of chromosome 5 01-disease-subtype +MONDO:0016871 partial deletion of chromosome 6 01-disease-subtype +MONDO:0016872 partial deletion of chromosome 7 01-disease-subtype +MONDO:0016873 partial deletion of chromosome 8 01-disease-subtype +MONDO:0016874 partial deletion of chromosome 9 01-disease-subtype +MONDO:0016875 partial deletion of chromosome 10 01-disease-subtype +MONDO:0016876 partial deletion of chromosome 11 01-disease-subtype +MONDO:0016877 partial deletion of the long arm of chromosome 12 01-disease-subtype +MONDO:0016878 partial deletion of chromosome 16 02-disease-root +MONDO:0016879 partial deletion of chromosome 17 02-disease-root +MONDO:0016880 partial deletion of chromosome 18 01-disease-subtype +MONDO:0016881 partial deletion of chromosome 19 01-disease-subtype +MONDO:0016882 partial deletion of chromosome 20 01-disease-subtype +MONDO:0016883 partial deletion of the short arm of chromosome 1 01-disease-subtype +MONDO:0016884 partial deletion of the short arm of chromosome 2 01-disease-subtype +MONDO:0016885 partial deletion of the short arm of chromosome 3 01-disease-subtype +MONDO:0016887 partial deletion of the short arm of chromosome 5 01-disease-subtype +MONDO:0016888 partial deletion of the short arm of chromosome 6 01-disease-subtype +MONDO:0016889 partial deletion of the short arm of chromosome 7 01-disease-subtype +MONDO:0016890 partial deletion of the short arm of chromosome 8 01-disease-subtype +MONDO:0016892 partial deletion of the short arm of chromosome 10 01-disease-subtype +MONDO:0016893 partial deletion of the short arm of chromosome 11 01-disease-subtype +MONDO:0016894 partial deletion of the short arm of chromosome 16 01-disease-subtype +MONDO:0016897 partial deletion of the short arm of chromosome 19 01-disease-subtype +MONDO:0016898 partial monosomy of the short arm of chromosome 20 01-disease-subtype +MONDO:0016899 Duchenne and Becker muscular dystrophy 02-disease-root +MONDO:0016901 partial deletion of the long arm of chromosome 2 01-disease-subtype +MONDO:0016902 partial deletion of the long arm of chromosome 3 01-disease-subtype +MONDO:0016903 partial deletion of the long arm of chromosome 4 01-disease-subtype +MONDO:0016904 partial deletion of the long arm of chromosome 5 01-disease-subtype +MONDO:0016905 partial deletion of the long arm of chromosome 6 01-disease-subtype +MONDO:0016906 partial deletion of the long arm of chromosome 7 01-disease-subtype +MONDO:0016907 partial deletion of the long arm of chromosome 8 01-disease-subtype +MONDO:0016908 partial monosomy of the long arm of chromosome 9 01-disease-subtype +MONDO:0016909 partial monosomy of the long arm of chromosome 10 01-disease-subtype +MONDO:0016910 partial deletion of the long arm of chromosome 11 01-disease-subtype +MONDO:0016911 partial deletion of the long arm of chromosome 13 02-disease-root +MONDO:0016912 partial deletion of the long arm of chromosome 14 02-disease-root +MONDO:0016913 partial deletion of the long arm of chromosome 15 02-disease-root +MONDO:0016914 partial deletion of the long arm of chromosome 16 01-disease-subtype +MONDO:0016915 partial deletion of the long arm of chromosome 17 01-disease-subtype +MONDO:0016917 partial deletion of the long arm of chromosome 19 01-disease-subtype +MONDO:0016918 partial deletion of the long arm of chromosome 20 01-disease-subtype +MONDO:0016919 partial deletion of the long arm of chromosome 21 02-disease-root +MONDO:0016921 partial duplication of chromosome 1 01-disease-subtype +MONDO:0016922 partial duplication of chromosome 2 02-disease-root +MONDO:0016923 partial duplication of chromosome 3 01-disease-subtype +MONDO:0016924 partial duplication of chromosome 4 01-disease-subtype +MONDO:0016925 partial trisomy/tetrasomy of chromosome 5 01-disease-subtype +MONDO:0016927 partial duplication of chromosome 6 01-disease-subtype +MONDO:0016928 partial duplication of chromosome 7 01-disease-subtype +MONDO:0016929 partial duplication of chromosome 8 01-disease-subtype +MONDO:0016930 partial trisomy/tetrasomy of chromosome 9 01-disease-subtype +MONDO:0016931 partial duplication of chromosome 10 01-disease-subtype +MONDO:0016932 partial duplication of chromosome 11 01-disease-subtype +MONDO:0016933 partial trisomy/tetrasomy of the short arm of chromosome 12 01-disease-subtype +MONDO:0016934 partial duplication of chromosome 16 02-disease-root +MONDO:0016935 partial duplication of chromosome 17 02-disease-root +MONDO:0016936 partial trisomy/tetrasomy of chromosome 18 01-disease-subtype +MONDO:0016937 partial duplication of chromosome 19 01-disease-subtype +MONDO:0016938 partial trisomy of chromosome 20 01-disease-subtype +MONDO:0016939 partial duplication of the short arm of chromosome 2 01-disease-subtype +MONDO:0016940 partial duplication of the short arm of chromosome 3 01-disease-subtype +MONDO:0016941 partial duplication of the short arm of chromosome 4 01-disease-subtype +MONDO:0016942 partial trisomy/tetrasomy of the short arm of chromosome 5 01-disease-subtype +MONDO:0016943 partial duplication of the short arm of chromosome 6 01-disease-subtype +MONDO:0016944 partial duplication of the short arm of chromosome 7 01-disease-subtype +MONDO:0016945 partial duplication of the short arm of chromosome 8 01-disease-subtype +MONDO:0016947 partial duplication of the short arm of chromosome 10 01-disease-subtype +MONDO:0016948 partial duplication of the short arm of chromosome 11 01-disease-subtype +MONDO:0016949 partial duplication of the short arm of chromosome 16 01-disease-subtype +MONDO:0016950 partial duplication of the short arm of chromosome 17 01-disease-subtype +MONDO:0016951 partial trisomy/tetrasomy of the short arm of chromosome 18 01-disease-subtype +MONDO:0016952 partial duplication of the long arm of chromosome 1 01-disease-subtype +MONDO:0016953 partial duplication of the long arm of chromosome 2 01-disease-subtype +MONDO:0016954 partial duplication of the long arm of chromosome 3 01-disease-subtype +MONDO:0016955 partial duplication of the long arm of chromosome 4 01-disease-subtype +MONDO:0016956 partial trisomy of the long arm of chromosome 5 01-disease-subtype +MONDO:0016957 partial duplication of the long arm of chromosome 6 01-disease-subtype +MONDO:0016958 partial duplication of the long arm of chromosome 7 01-disease-subtype +MONDO:0016959 partial duplication of the long arm of chromosome 8 01-disease-subtype +MONDO:0016960 partial trisomy of the long arm of chromosome 9 01-disease-subtype +MONDO:0016961 partial duplication of the long arm of chromosome 10 01-disease-subtype +MONDO:0016964 partial duplication of the long arm of chromosome 14 02-disease-root +MONDO:0016965 partial duplication of the long arm of chromosome 15 02-disease-root +MONDO:0016966 partial trisomy of the long arm of chromosome 16 01-disease-subtype +MONDO:0016967 partial duplication of the long arm of chromosome 17 01-disease-subtype +MONDO:0016968 partial trisomy of the long arm of chromosome 18 01-disease-subtype +MONDO:0016969 partial duplication of the long arm of chromosome 19 01-disease-subtype +MONDO:0016970 partial trisomy of the long arm of chromosome 20 01-disease-subtype +MONDO:0016971 limb-girdle muscular dystrophy 03-disease-area +MONDO:0016972 partial duplication of the long arm of chromosome 22 02-disease-root +MONDO:0016974 thymoma type B 01-disease-subtype +MONDO:0016979 MRCS syndrome 01-disease-subtype +MONDO:0016980 ATR-X-related syndrome 03-disease-area +MONDO:0016981 infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome 01-disease-subtype +MONDO:0016983 Bartter syndrome with hypocalcemia 01-disease-subtype +MONDO:0016987 neuroacanthocytosis 02-disease-root +MONDO:0016988 hyperinsulinism due to HNF4A deficiency 01-disease-subtype +MONDO:0016990 acquired prothrombin deficiency 01-disease-subtype +MONDO:0016993 generalized peeling skin syndrome type C 01-disease-subtype +MONDO:0016994 microcephalic osteodysplastic primordial dwarfism types I and III 02-disease-root +MONDO:0016996 NK-cell enteropathy 02-disease-root +MONDO:0017003 partial deletion of chromosome X 02-disease-root +MONDO:0017004 partial monosomy of the short arm of chromosome X 01-disease-subtype +MONDO:0017007 partial deletion of the long arm of chromosome X 01-disease-subtype +MONDO:0017008 partial duplication of chromosome X 02-disease-root +MONDO:0017009 partial duplication of the short arm of chromosome X 01-disease-subtype +MONDO:0017010 partial duplication of the long arm of chromosome X 01-disease-subtype +MONDO:0017012 partial duplication of the short arm of chromosome 1 01-disease-subtype +MONDO:0017013 trisomy 8p 01-disease-subtype +MONDO:0017014 interstitial lung disease specific to childhood 03-disease-area +MONDO:0017015 primary interstitial lung disease specific to childhood 02-disease-root +MONDO:0017019 interstitial lung disease specific to infancy 01-disease-subtype +MONDO:0017026 interstitial lung disease specific to adulthood 02-disease-root +MONDO:0017027 primary interstitial lung disease specific to adulthood 03-disease-area +MONDO:0017030 interstitial lung disease in childhood and adulthood 02-disease-root +MONDO:0017031 primary interstitial lung disease in childhood and adulthood 01-disease-subtype +MONDO:0017034 secondary interstitial lung disease in childhood and adulthood 01-disease-subtype +MONDO:0017040 exposure-related interstitial lung disease 01-disease-subtype +MONDO:0017041 osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome 02-disease-root +MONDO:0017042 thanatophoric dysplasia 02-disease-root +MONDO:0017043 congenital mesoblastic nephroma 01-disease-subtype +MONDO:0017044 adult familial nephronophthisis-spastic quadriparesia syndrome 02-disease-root +MONDO:0017045 neuroectodermal-endocrine syndrome 02-disease-root +MONDO:0017047 infantile axonal neuropathy 02-disease-root +MONDO:0017049 hypomyelination neuropathy-arthrogryposis syndrome 01-disease-subtype +MONDO:0017050 intraocular medulloepithelioma 02-disease-root +MONDO:0017051 classic maple syrup urine disease 01-disease-subtype +MONDO:0017052 intermediate maple syrup urine disease 01-disease-subtype +MONDO:0017053 intermittent maple syrup urine disease 01-disease-subtype +MONDO:0017054 thiamine-responsive maple syrup urine disease 01-disease-subtype +MONDO:0017056 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion 01-disease-subtype +MONDO:0017057 hereditary thrombocytopenia with normal platelets 01-disease-subtype +MONDO:0017058 autosomal recessive intermediate Charcot-Marie-Tooth disease 01-disease-subtype +MONDO:0017059 neural tube closure defect 03-disease-area +MONDO:0017060 open iniencephaly 01-disease-subtype +MONDO:0017061 closed iniencephaly 01-disease-subtype +MONDO:0017062 spina bifida aperta 01-disease-subtype +MONDO:0017063 total spina bifida aperta 01-disease-subtype +MONDO:0017064 thoracolumbosacral spina bifida aperta 01-disease-subtype +MONDO:0017065 lumbosacral spina bifida aperta 01-disease-subtype +MONDO:0017066 cervical spina bifida aperta 01-disease-subtype +MONDO:0017067 cervicothoracic spina bifida aperta 01-disease-subtype +MONDO:0017068 upper thoracic spina bifida aperta 01-disease-subtype +MONDO:0017069 spina bifida cystica 01-disease-subtype +MONDO:0017070 total spina bifida cystica 01-disease-subtype +MONDO:0017071 thoracolumbosacral spina bifida cystica 01-disease-subtype +MONDO:0017072 lumbosacral spina bifida cystica 01-disease-subtype +MONDO:0017073 cervical spina bifida cystica 01-disease-subtype +MONDO:0017074 cervicothoracic spina bifida cystica 01-disease-subtype +MONDO:0017075 upper thoracic spina bifida cystica 01-disease-subtype +MONDO:0017076 posterior meningocele 01-disease-subtype +MONDO:0017077 myelocystocele 01-disease-subtype +MONDO:0017078 cephalocele 02-disease-root +MONDO:0017079 meningoencephalocele 01-disease-subtype +MONDO:0017080 occipital encephalocele 01-disease-subtype +MONDO:0017081 parietal encephalocele 01-disease-subtype +MONDO:0017082 basal encephalocele 01-disease-subtype +MONDO:0017084 leptomyelolipoma 02-disease-root +MONDO:0017086 primary tethered cord syndrome 02-disease-root +MONDO:0017087 neurenteric cyst 02-disease-root +MONDO:0017088 isolated amyelia 02-disease-root +MONDO:0017089 isolated megalencephaly 01-disease-subtype +MONDO:0017090 midline cerebral malformation 03-disease-area +MONDO:0017091 bilateral polymicrogyria 01-disease-subtype +MONDO:0017092 unilateral polymicrogyria 01-disease-subtype +MONDO:0017093 unilateral focal polymicrogyria 01-disease-subtype +MONDO:0017094 cerebral cortical dysplasia 02-disease-root +MONDO:0017095 isolated focal cortical dysplasia type I 01-disease-subtype +MONDO:0017096 isolated focal cortical dysplasia type Ia 01-disease-subtype +MONDO:0017097 isolated focal cortical dysplasia type Ib 01-disease-subtype +MONDO:0017098 isolated focal cortical dysplasia type Ic 01-disease-subtype +MONDO:0017100 neutropenia-monocytopenia-deafness syndrome 01-disease-subtype +MONDO:0017101 isolated focal cortical dysplasia type IIa 01-disease-subtype +MONDO:0017102 isolated focal cortical dysplasia type IIb 01-disease-subtype +MONDO:0017103 encephaloclastic disorder 03-disease-area +MONDO:0017104 central nervous system cystic malformation 03-disease-area +MONDO:0017110 isolated Dandy-Walker malformation with hydrocephalus 01-disease-subtype +MONDO:0017111 isolated Dandy-Walker malformation without hydrocephalus 01-disease-subtype +MONDO:0017114 global cerebellar malformation 02-disease-root +MONDO:0017116 congenital communicating hydrocephalus 01-disease-subtype +MONDO:0017117 congenital non-communicating hydrocephalus 01-disease-subtype +MONDO:0017123 arthrogryposis-renal dysfunction-cholestasis syndrome 02-disease-root +MONDO:0017126 oculo-skeletal-renal syndrome 02-disease-root +MONDO:0017127 inherited soft tissue tumor 03-disease-area +MONDO:0017128 inherited digestive tract tumor 03-disease-area +MONDO:0017129 inherited cardiac tumor 02-disease-root +MONDO:0017131 genetic cardiac anomaly 03-disease-area +MONDO:0017132 hereditary ATTR amyloidosis 02-disease-root +MONDO:0017134 odonto-onycho dysplasia-alopecia syndrome 02-disease-root +MONDO:0017135 olivopontocerebellar atrophy-deafness syndrome 02-disease-root +MONDO:0017136 omodysplasia 02-disease-root +MONDO:0017138 Opitz G/BBB syndrome 02-disease-root +MONDO:0017139 oromandibular-limb hypogenesis syndrome 01-disease-subtype +MONDO:0017140 L1 syndrome 02-disease-root +MONDO:0017143 genetic infertility 03-disease-area +MONDO:0017144 alpha-thalassemia and related diseases 03-disease-area +MONDO:0017145 beta-thalassemia and related diseases 03-disease-area +MONDO:0017146 sickle cell disease and related diseases 01-disease-subtype +MONDO:0017147 idiopathic pulmonary arterial hypertension 01-disease-subtype +MONDO:0017148 heritable pulmonary arterial hypertension 02-disease-root +MONDO:0017160 behavioral variant of frontotemporal dementia 01-disease-subtype +MONDO:0017161 frontotemporal dementia with motor neuron disease 02-disease-root +MONDO:0017162 imperforate oropharynx-costo vetebral anomalies syndrome 02-disease-root +MONDO:0017165 bile acid CoA ligase deficiency and defective amidation 01-disease-subtype +MONDO:0017167 malignant epithelial tumor of salivary glands 03-disease-area +MONDO:0017169 multiple endocrine neoplasia 02-disease-root +MONDO:0017171 mucopolysaccharidosis type 6, rapidly progressing 01-disease-subtype +MONDO:0017172 mucopolysaccharidosis type 6, slowly progressing 01-disease-subtype +MONDO:0017173 non-syndromic male infertility due to sperm motility disorder 02-disease-root +MONDO:0017174 Machado-Joseph disease type 1 01-disease-subtype +MONDO:0017175 Machado-Joseph disease type 2 01-disease-subtype +MONDO:0017176 Machado-Joseph disease type 3 01-disease-subtype +MONDO:0017177 hemihyperplasia-multiple lipomatosis syndrome 01-disease-subtype +MONDO:0017178 osteochondritis dissecans 02-disease-root +MONDO:0017180 10q22.3q23.3 microduplication syndrome 01-disease-subtype +MONDO:0017181 hypnic headache 02-disease-root +MONDO:0017182 familial hyperinsulinism 01-disease-subtype +MONDO:0017183 hyperinsulinism due to UCP2 deficiency 01-disease-subtype +MONDO:0017184 autosomal dominant hyperinsulinism due to SUR1 deficiency 01-disease-subtype +MONDO:0017185 autosomal dominant hyperinsulinism due to Kir6.2 deficiency 01-disease-subtype +MONDO:0017186 diazoxide-resistant hyperinsulinism 01-disease-subtype +MONDO:0017187 diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency 01-disease-subtype +MONDO:0017188 diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency 01-disease-subtype +MONDO:0017189 adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia 01-disease-subtype +MONDO:0017193 symptomatic form of Coffin-Lowry syndrome in female carriers 02-disease-root +MONDO:0017194 Blount disease 01-disease-subtype +MONDO:0017195 Bruck syndrome 02-disease-root +MONDO:0017196 osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome 01-disease-subtype +MONDO:0017197 osteopathia striata-pigmentary dermopathy-white forelock syndrome 02-disease-root +MONDO:0017198 osteopetrosis 02-disease-root +MONDO:0017199 osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome 02-disease-root +MONDO:0017207 primary organ-specific lymphoma 03-disease-area +MONDO:0017212 paraneoplastic uveitis 01-disease-subtype +MONDO:0017214 vitamin B12-responsive methylmalonic acidemia 01-disease-subtype +MONDO:0017218 septopreoptic holoprosencephaly 01-disease-subtype +MONDO:0017219 microform holoprosencephaly 02-disease-root +MONDO:0017221 Pelizaeus-Merzbacher disease, connatal form 01-disease-subtype +MONDO:0017222 Pelizaeus-Merzbacher disease, classic form 01-disease-subtype +MONDO:0017223 Pelizaeus-Merzbacher disease, transitional form 01-disease-subtype +MONDO:0017224 Pelizaeus-Merzbacher disease in female carriers 01-disease-subtype +MONDO:0017225 null syndrome 01-disease-subtype +MONDO:0017226 Pelizaeus-Merzbacher-like disease 03-disease-area +MONDO:0017229 distal monosomy 12p 01-disease-subtype +MONDO:0017230 autosomal semi-dominant severe lipodystrophic laminopathy 01-disease-subtype +MONDO:0017231 erythropoietic uroporphyria associated with myeloid malignancy 01-disease-subtype +MONDO:0017232 recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome 02-disease-root +MONDO:0017234 inherited prion disease 03-disease-area +MONDO:0017235 familial omphalocele syndrome with facial dysmorphism 02-disease-root +MONDO:0017236 rapidly progressive glomerulonephritis 01-disease-subtype +MONDO:0017237 hereditary sensorimotor neuropathy with hyperelastic skin 02-disease-root +MONDO:0017238 hemoglobinopathy Toms River 01-disease-subtype +MONDO:0017239 familial progressive hyper- and hypopigmentation 01-disease-subtype +MONDO:0017240 acrodysostosis with multiple hormone resistance 01-disease-subtype +MONDO:0017241 AP4-related intellectual disability and spastic paraplegia 02-disease-root +MONDO:0017256 idiopathic anterior uveitis 01-disease-subtype +MONDO:0017258 idiopathic panuveitis 01-disease-subtype +MONDO:0017262 inherited non-syndromic ichthyosis 02-disease-root +MONDO:0017263 inherited ichthyosis syndromic form 03-disease-area +MONDO:0017264 syndromic recessive X-linked ichthyosis 01-disease-subtype +MONDO:0017265 autosomal recessive congenital ichthyosis 02-disease-root +MONDO:0017266 keratinopathic ichthyosis 01-disease-subtype +MONDO:0017267 self-healing collodion baby 01-disease-subtype +MONDO:0017268 acral self-healing collodion baby 01-disease-subtype +MONDO:0017269 X-linked ichthyosis syndrome 02-disease-root +MONDO:0017270 autosomal ichthyosis syndrome 03-disease-area +MONDO:0017275 spastic paraplegia-facial-cutaneous lesions syndrome 02-disease-root +MONDO:0017276 frontotemporal dementia 02-disease-root +MONDO:0017277 partial deletion of chromosome 12 01-disease-subtype +MONDO:0017278 autoimmune polyendocrinopathy 02-disease-root +MONDO:0017279 young-onset Parkinson disease 01-disease-subtype +MONDO:0017283 facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion 01-disease-subtype +MONDO:0017284 Xp22.13p22.2 duplication syndrome 01-disease-subtype +MONDO:0017287 IgG4-related disease 03-disease-area +MONDO:0017290 familial intrahepatic cholestasis 01-disease-subtype +MONDO:0017292 well-differentiated fetal adenocarcinoma of the lung 01-disease-subtype +MONDO:0017294 glycerol kinase deficiency, infantile form 01-disease-subtype +MONDO:0017295 glycerol kinase deficiency, juvenile form 01-disease-subtype +MONDO:0017296 glycerol kinase deficiency, adult form 01-disease-subtype +MONDO:0017301 pericardial and diaphragmatic defect 02-disease-root +MONDO:0017302 qualitative or quantitative defects of troponin 02-disease-root +MONDO:0017303 qualitative or quantitative defects of tropomyosin 02-disease-root +MONDO:0017304 ocular albinism 01-disease-subtype +MONDO:0017305 syndromic oculocutaneous albinism 03-disease-area +MONDO:0017306 disorder of phenylalanine metabolism 01-disease-subtype +MONDO:0017307 disorder of tyrosine metabolism 01-disease-subtype +MONDO:0017309 neonatal Marfan syndrome 01-disease-subtype +MONDO:0017310 Marfan and Marfan-related disorder 03-disease-area +MONDO:0017312 Perrault syndrome 02-disease-root +MONDO:0017313 disorder of folate metabolism and transport 01-disease-subtype +MONDO:0017314 Ehlers-Danlos syndrome, vascular type 01-disease-subtype +MONDO:0017315 short stature-webbed neck-heart disease syndrome 02-disease-root +MONDO:0017316 short stature-deafness-neutrophil dysfunction-dysmorphism syndrome 02-disease-root +MONDO:0017317 phakomatosis pigmentokeratotica 02-disease-root +MONDO:0017318 phakomatosis pigmentovascularis 02-disease-root +MONDO:0017319 hereditary elliptocytosis 01-disease-subtype +MONDO:0017320 phosphoenolpyruvate carboxykinase deficiency 02-disease-root +MONDO:0017321 pili torti-onychodysplasia syndrome 02-disease-root +MONDO:0017322 disorders of vitamin D metabolism 03-disease-area +MONDO:0017323 hypocalcemic rickets 01-disease-subtype +MONDO:0017324 autosomal recessive hypophosphatemic rickets 01-disease-subtype +MONDO:0017325 early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation 01-disease-subtype +MONDO:0017329 familial vesicoureteral reflux 02-disease-root +MONDO:0017331 Pilotto syndrome 02-disease-root +MONDO:0017334 12q15q21.1 microdeletion syndrome 01-disease-subtype +MONDO:0017335 microtriplication 11q24.1 01-disease-subtype +MONDO:0017336 fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency 01-disease-subtype +MONDO:0017337 inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency 01-disease-subtype +MONDO:0017338 fatal multiple mitochondrial dysfunctions syndrome 02-disease-root +MONDO:0017339 exfoliative ichthyosis 01-disease-subtype +MONDO:0017341 virus associated tumor 03-disease-area +MONDO:0017342 Epstein-Barr virus-related tumor 03-disease-area +MONDO:0017343 Epstein-Barr virus-associated malignant lymphoproliferative disorder 02-disease-root +MONDO:0017345 Epstein-Barr virus-associated mesenchymal tumor 02-disease-root +MONDO:0017346 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly 01-disease-subtype +MONDO:0017349 myopericytoma 01-disease-subtype +MONDO:0017350 inborn disorder of tryptophan metabolism 02-disease-root +MONDO:0017351 inborn disorder of lysine and hydroxylysine metabolism 01-disease-subtype +MONDO:0017352 disorder of glutamine metabolism 02-disease-root +MONDO:0017353 neonatal glycine encephalopathy 01-disease-subtype +MONDO:0017354 infantile glycine encephalopathy 01-disease-subtype +MONDO:0017355 inborn disorder of proline metabolism 01-disease-subtype +MONDO:0017356 inborn disorder of ornithine metabolism 01-disease-subtype +MONDO:0017359 3-methylglutaconic aciduria 02-disease-root +MONDO:0017360 vitamin B12-unresponsive methylmalonic acidemia type mut0 01-disease-subtype +MONDO:0017362 neuralgic amyotrophy 02-disease-root +MONDO:0017365 hereditary acrokeratotic poikiloderma, Weary type 01-disease-subtype +MONDO:0017366 hereditary pheochromocytoma-paraganglioma 02-disease-root +MONDO:0017375 congenital enterovirus infection 01-disease-subtype +MONDO:0017377 preaxial polydactyly-colobomata-intellectual disability syndrome 02-disease-root +MONDO:0017379 polyneuropathy-intellectual disability-acromicria-premature menopause syndrome 02-disease-root +MONDO:0017380 juvenile polyposis syndrome 01-disease-subtype +MONDO:0017382 familial clubfoot due to 5q31 microdeletion 01-disease-subtype +MONDO:0017383 familial clubfoot due to PITX1 point mutation 01-disease-subtype +MONDO:0017385 malignant migrating partial seizures of infancy 01-disease-subtype +MONDO:0017386 pleomorphic rhabdomyosarcoma 01-disease-subtype +MONDO:0017387 epithelioid sarcoma 02-disease-root +MONDO:0017389 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria 01-disease-subtype +MONDO:0017391 Grayson-Wilbrandt corneal dystrophy 01-disease-subtype +MONDO:0017392 pre-descemet corneal dystrophy 01-disease-subtype +MONDO:0017393 blepharophimosis - intellectual disability syndrome 02-disease-root +MONDO:0017396 toxic dermatosis 03-disease-area +MONDO:0017397 constitutional dyserythropoietic anemia 01-disease-subtype +MONDO:0017398 3MC syndrome 02-disease-root +MONDO:0017399 frontotemporal dementia, right temporal atrophy variant 01-disease-subtype +MONDO:0017400 hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome 01-disease-subtype +MONDO:0017401 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 01-disease-subtype +MONDO:0017402 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 01-disease-subtype +MONDO:0017403 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 01-disease-subtype +MONDO:0017404 distal Xq28 microduplication syndrome 01-disease-subtype +MONDO:0017405 1p21.3 microdeletion syndrome 01-disease-subtype +MONDO:0017406 hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome 02-disease-root +MONDO:0017407 deficiency in anterior pituitary function - variable immunodeficiency syndrome 01-disease-subtype +MONDO:0017408 rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome 02-disease-root +MONDO:0017410 porencephaly 02-disease-root +MONDO:0017411 neonatal inflammatory skin and bowel disease 02-disease-root +MONDO:0017413 Reunion island Larsen syndrome 01-disease-subtype +MONDO:0017415 multiple pterygium syndrome 03-disease-area +MONDO:0017417 renal-hepatic-pancreatic dysplasia 02-disease-root +MONDO:0017419 non-syndromic amelia 02-disease-root +MONDO:0017420 intercalary limb defects 02-disease-root +MONDO:0017421 non-syndromic terminal limb defects 03-disease-area +MONDO:0017422 adactyly of hand 02-disease-root +MONDO:0017423 split hand or/and split foot malformation 02-disease-root +MONDO:0017424 non-syndromic brachydactyly 01-disease-subtype +MONDO:0017425 preaxial polydactyly of fingers 02-disease-root +MONDO:0017426 postaxial polydactyly of fingers 02-disease-root +MONDO:0017427 congenital deformities of limbs 03-disease-area +MONDO:0017428 congenital deformities of fingers 02-disease-root +MONDO:0017429 joint formation defects 03-disease-area +MONDO:0017430 non-syndromic congenital joint dislocations 02-disease-root +MONDO:0017431 non-syndromic limb overgrowth 02-disease-root +MONDO:0017435 popliteal pterygium syndrome 02-disease-root +MONDO:0017436 lethal congenital contracture syndrome 02-disease-root +MONDO:0017437 amelia of upper limb 01-disease-subtype +MONDO:0017438 amelia of lower limb 01-disease-subtype +MONDO:0017439 tetra-amelia 01-disease-subtype +MONDO:0017440 humeral agenesis/hypoplasia 02-disease-root +MONDO:0017441 congenital absence of upper arm and forearm with hand present 01-disease-subtype +MONDO:0017442 congenital absence of thigh and lower leg with foot present 01-disease-subtype +MONDO:0017443 congenital absence of both forearm and hand 02-disease-root +MONDO:0017444 congenital absence of both lower leg and foot 02-disease-root +MONDO:0017445 acheiria 02-disease-root +MONDO:0017446 apodia 02-disease-root +MONDO:0017447 congenital absence/hypoplasia of thumb 01-disease-subtype +MONDO:0017448 congenital absence/hypoplasia of fingers excluding thumb 01-disease-subtype +MONDO:0017449 split hand 01-disease-subtype +MONDO:0017450 split foot 01-disease-subtype +MONDO:0017451 non-syndromic brachydactyly of fingers 01-disease-subtype +MONDO:0017452 non-syndromic brachydactyly of toes 01-disease-subtype +MONDO:0017454 triphalangeal thumb-polysyndactyly syndrome 02-disease-root +MONDO:0017455 hyperphalangy 02-disease-root +MONDO:0017456 central polydactyly of fingers 02-disease-root +MONDO:0017457 Preaxial polydactyly of toes 02-disease-root +MONDO:0017460 syndactyly type 6 01-disease-subtype +MONDO:0017461 familial isolated clinodactyly of fingers 01-disease-subtype +MONDO:0017462 congenital pseudoarthrosis of the tibia 01-disease-subtype +MONDO:0017463 congenital pseudoarthrosis of the femur 01-disease-subtype +MONDO:0017464 congenital pseudoarthrosis of the fibula 01-disease-subtype +MONDO:0017465 congenital pseudoarthrosis of the radius 01-disease-subtype +MONDO:0017466 congenital pseudoarthrosis of the ulna 01-disease-subtype +MONDO:0017467 tibio-fibular synostosis 02-disease-root +MONDO:0017468 congenital shoulder dislocation 01-disease-subtype +MONDO:0017469 congenital elbow dislocation 01-disease-subtype +MONDO:0017470 congenital knee dislocation 01-disease-subtype +MONDO:0017471 congenital patella dislocation 01-disease-subtype +MONDO:0017472 patella aplasia/hypoplasia, unilateral 01-disease-subtype +MONDO:0017473 patella aplasia/hypoplasia, bilateral 01-disease-subtype +MONDO:0017474 macrodactyly of fingers 01-disease-subtype +MONDO:0017475 macrodactyly of toes 01-disease-subtype +MONDO:0017476 upper limb hypertrophy 01-disease-subtype +MONDO:0017477 lower limb hypertrophy 01-disease-subtype +MONDO:0017478 amelia of upper limb, unilateral 01-disease-subtype +MONDO:0017479 amelia of upper limb, bilateral 01-disease-subtype +MONDO:0017480 amelia of lower limb, unilateral 01-disease-subtype +MONDO:0017481 amelia of lower limb, bilateral 01-disease-subtype +MONDO:0017482 humeral agenesis/hypoplasia, unilateral 01-disease-subtype +MONDO:0017483 humeral agenesis/hypoplasia, bilateral 01-disease-subtype +MONDO:0017484 femoral agenesis/hypoplasia, unilateral 01-disease-subtype +MONDO:0017485 femoral agenesis/hypoplasia, bilateral 01-disease-subtype +MONDO:0017486 radial hemimelia, unilateral 01-disease-subtype +MONDO:0017487 radial hemimelia, bilateral 01-disease-subtype +MONDO:0017488 ulnar hemimelia, bilateral 01-disease-subtype +MONDO:0017489 ulnar hemimelia, unilateral 01-disease-subtype +MONDO:0017490 tibial hemimelia, unilateral 01-disease-subtype +MONDO:0017491 tibial hemimelia, bilateral 01-disease-subtype +MONDO:0017492 fibular hemimelia, unilateral 01-disease-subtype +MONDO:0017493 fibular hemimelia, bilateral 01-disease-subtype +MONDO:0017496 congenital absence of thigh and lower leg with foot present, unilateral 01-disease-subtype +MONDO:0017497 congenital absence of thigh and lower leg with foot present, bilateral 01-disease-subtype +MONDO:0017498 congenital absence of both forearm and hand, unilateral 01-disease-subtype +MONDO:0017499 congenital absence of both forearm and hand, bilateral 01-disease-subtype +MONDO:0017500 congenital absence of both lower leg and foot, unilateral 01-disease-subtype +MONDO:0017501 congenital absence of both lower leg and foot, bilateral 01-disease-subtype +MONDO:0017502 acheiria, unilateral 01-disease-subtype +MONDO:0017503 acheiria, bilateral 01-disease-subtype +MONDO:0017504 apodia, unilateral 01-disease-subtype +MONDO:0017505 apodia, bilateral 01-disease-subtype +MONDO:0017506 congenital absence/hypoplasia of thumb, unilateral 01-disease-subtype +MONDO:0017507 congenital absence/hypoplasia of thumb, bilateral 01-disease-subtype +MONDO:0017508 congenital absence/hypoplasia of fingers excluding thumb, bilateral 01-disease-subtype +MONDO:0017509 adactyly of foot, unilateral 01-disease-subtype +MONDO:0017510 adactyly of foot, bilateral 01-disease-subtype +MONDO:0017511 split hand, unilateral 01-disease-subtype +MONDO:0017512 split hand, bilateral 01-disease-subtype +MONDO:0017513 split foot, unilateral 01-disease-subtype +MONDO:0017514 split foot, bilateral 01-disease-subtype +MONDO:0017515 brachydactyly of fingers, unilateral 01-disease-subtype +MONDO:0017516 brachydactyly of fingers, bilateral 01-disease-subtype +MONDO:0017517 brachydactyly of toes, unilateral 01-disease-subtype +MONDO:0017518 brachydactyly of toes, bilateral 01-disease-subtype +MONDO:0017519 symbrachydactyly of hand and foot, unilateral 01-disease-subtype +MONDO:0017520 symbrachydactyly of hand and foot, bilateral 01-disease-subtype +MONDO:0017521 hyperphalangy, unilateral 01-disease-subtype +MONDO:0017522 hyperphalangy, bilateral 01-disease-subtype +MONDO:0017523 polydactyly of a biphalangeal thumb, unilateral 01-disease-subtype +MONDO:0017524 polydactyly of a biphalangeal thumb, bilateral 01-disease-subtype +MONDO:0017525 polydactyly of a triphalangeal thumb, unilateral 01-disease-subtype +MONDO:0017526 polydactyly of a triphalangeal thumb, bilateral 01-disease-subtype +MONDO:0017527 polydactyly of an index finger, unilateral 01-disease-subtype +MONDO:0017528 polydactyly of an index finger, bilateral 01-disease-subtype +MONDO:0017529 polysyndactyly, unilateral 01-disease-subtype +MONDO:0017530 polysyndactyly, bilateral 01-disease-subtype +MONDO:0017531 postaxial polydactyly type A, unilateral 01-disease-subtype +MONDO:0017532 postaxial polydactyly type A, bilateral 01-disease-subtype +MONDO:0017533 postaxial polydactyly type B, unilateral 01-disease-subtype +MONDO:0017534 postaxial polydactyly type B, bilateral 01-disease-subtype +MONDO:0017535 central polydactyly of fingers, unilateral 01-disease-subtype +MONDO:0017536 central polydactyly of fingers, bilateral 01-disease-subtype +MONDO:0017537 Preaxial polydactyly of toes, unilateral 01-disease-subtype +MONDO:0017538 Preaxial polydactyly of toes, bilateral 01-disease-subtype +MONDO:0017543 zygodactyly type 2 01-disease-subtype +MONDO:0017544 zygodactyly type 3 01-disease-subtype +MONDO:0017545 zygodactyly type 4 01-disease-subtype +MONDO:0017546 congenital vertical talus, unilateral 01-disease-subtype +MONDO:0017547 congenital vertical talus, bilateral 01-disease-subtype +MONDO:0017548 humero-radio-ulnar synostosis, unilateral 01-disease-subtype +MONDO:0017549 humero-radio-ulnar synostosis, bilateral 01-disease-subtype +MONDO:0017550 humero-radial synostosis, unilateral 01-disease-subtype +MONDO:0017551 humero-radial synostosis, bilateral 01-disease-subtype +MONDO:0017552 humero-ulnar synostosis, unilateral 01-disease-subtype +MONDO:0017553 humero-ulnar synostosis, bilateral 01-disease-subtype +MONDO:0017554 radio-ulnar synostosis, unilateral 01-disease-subtype +MONDO:0017555 radio-ulnar synostosis, bilateral 01-disease-subtype +MONDO:0017556 Madelung deformity, unilateral 01-disease-subtype +MONDO:0017557 Madelung deformity, bilateral 01-disease-subtype +MONDO:0017558 congenital elbow dislocation, unilateral 01-disease-subtype +MONDO:0017559 congenital elbow dislocation, bilateral 01-disease-subtype +MONDO:0017560 congenital genu recurvatum 01-disease-subtype +MONDO:0017561 congenital genu flexum 01-disease-subtype +MONDO:0017562 congenital patella dislocation, unilateral 01-disease-subtype +MONDO:0017563 congenital patella dislocation, bilateral 01-disease-subtype +MONDO:0017564 macrodactyly of fingers, unilateral 01-disease-subtype +MONDO:0017565 macrodactyly of fingers, bilateral 01-disease-subtype +MONDO:0017566 macrodactyly of toes, unilateral 01-disease-subtype +MONDO:0017567 macrodactyly of toes, bilateral 01-disease-subtype +MONDO:0017568 Prata-Liberal-Goncalves syndrome 02-disease-root +MONDO:0017569 de Barsy syndrome 02-disease-root +MONDO:0017570 leukocyte adhesion deficiency 02-disease-root +MONDO:0017571 Proteus-like syndrome 02-disease-root +MONDO:0017573 46,XX disorder of sex development-anorectal anomalies syndrome 01-disease-subtype +MONDO:0017574 chronic intestinal pseudoobstruction 01-disease-subtype +MONDO:0017575 mitochondrial neurogastrointestinal encephalomyopathy 01-disease-subtype +MONDO:0017576 46,XX disorder of sex development 03-disease-area +MONDO:0017578 disorder of thiamine metabolism and transport 01-disease-subtype +MONDO:0017579 Baraitser-Winter cerebrofrontofacial syndrome 02-disease-root +MONDO:0017580 11p15.4 microduplication syndrome 01-disease-subtype +MONDO:0017581 familial infantile gigantism 02-disease-root +MONDO:0017582 pituitary adenocarcinoma 01-disease-subtype +MONDO:0017583 mirror polydactyly-vertebral segmentation-limbs defects syndrome 02-disease-root +MONDO:0017592 staphylococcal toxemia 02-disease-root +MONDO:0017593 juvenile amyotrophic lateral sclerosis 01-disease-subtype +MONDO:0017594 indolent B-cell non-Hodgkin lymphoma 01-disease-subtype +MONDO:0017595 aggressive B-cell non-Hodgkin lymphoma 01-disease-subtype +MONDO:0017596 diffuse large B-cell lymphoma of the central nervous system 01-disease-subtype +MONDO:0017599 splenic diffuse red pulp small B-cell lymphoma 01-disease-subtype +MONDO:0017606 facial nerve palsy due to herpes zoster infection 01-disease-subtype +MONDO:0017607 caudal regression sequence 02-disease-root +MONDO:0017609 renal tubular dysgenesis 02-disease-root +MONDO:0017610 epidermolysis bullosa simplex 02-disease-root +MONDO:0017611 pituitary tumor 03-disease-area +MONDO:0017612 junctional epidermolysis bullosa 02-disease-root +MONDO:0017613 intellectual disability-hypotonia-skin hyperpigmentation syndrome 02-disease-root +MONDO:0017614 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome 01-disease-subtype +MONDO:0017615 benign familial infantile epilepsy 02-disease-root +MONDO:0017616 X-linked intellectual disability, Schutz type 02-disease-root +MONDO:0017618 congenital sucrase-isomaltase deficiency with starch intolerance 01-disease-subtype +MONDO:0017619 congenital sucrase-isomaltase deficiency with minimal starch tolerance 01-disease-subtype +MONDO:0017620 congenital sucrase-isomaltase deficiency without starch intolerance 01-disease-subtype +MONDO:0017621 congenital sucrase-isomaltase deficiency with starch and lactose intolerance 01-disease-subtype +MONDO:0017622 congenital sucrase-isomaltase deficiency without sucrose intolerance 01-disease-subtype +MONDO:0017623 PTEN hamartoma tumor syndrome 03-disease-area +MONDO:0017624 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 01-disease-subtype +MONDO:0017625 familial primary hypomagnesemia with hypocalcuria 01-disease-subtype +MONDO:0017626 familial primary hypomagnesemia with normocalcuria 01-disease-subtype +MONDO:0017627 congenital hereditary facial paralysis-variable hearing loss syndrome 01-disease-subtype +MONDO:0017629 sodium channelopathy-related small fiber neuropathy 02-disease-root +MONDO:0017630 X-linked complicated spastic paraplegia type 1 01-disease-subtype +MONDO:0017634 non-infectious anterior uveitis 01-disease-subtype +MONDO:0017636 hemiparkinsonism-hemiatrophy syndrome 02-disease-root +MONDO:0017642 intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome 02-disease-root +MONDO:0017651 primary myoclonus 02-disease-root +MONDO:0017656 motor stereotypies 03-disease-area +MONDO:0017658 hyperekplexia 02-disease-root +MONDO:0017666 diffuse palmoplantar keratoderma 02-disease-root +MONDO:0017667 isolated diffuse palmoplantar keratoderma 01-disease-subtype +MONDO:0017668 intellectual disability-short stature-hypertelorism syndrome 02-disease-root +MONDO:0017670 autosomal dominant diffuse mutilating palmoplantar keratoderma 01-disease-subtype +MONDO:0017672 focal palmoplantar keratoderma 02-disease-root +MONDO:0017673 isolated focal palmoplantar keratoderma 01-disease-subtype +MONDO:0017675 punctate palmoplantar keratoderma 02-disease-root +MONDO:0017676 marginal papular palmoplantar keratoderma 01-disease-subtype +MONDO:0017677 focal acral hyperkeratosis 01-disease-subtype +MONDO:0017681 erythrokeratoderma variabilis progressiva 03-disease-area +MONDO:0017682 intellectual disability-polydactyly-uncombable hair syndrome 02-disease-root +MONDO:0017683 methylcobalamin deficiency type cblDv1 01-disease-subtype +MONDO:0017684 disorder of beta and omega amino acid metabolism 02-disease-root +MONDO:0017685 vitamin B12-responsive methylmalonic acidemia, type cblDv2 01-disease-subtype +MONDO:0017686 inborn aminoacylase deficiency 03-disease-area +MONDO:0017687 disorder of neutral amino acid transport 01-disease-subtype +MONDO:0017688 disorder of glycolysis 01-disease-subtype +MONDO:0017689 disorder of fructose metabolism 03-disease-area +MONDO:0017690 disorder of galactose metabolism 03-disease-area +MONDO:0017691 erythrocyte galactose epimerase deficiency 01-disease-subtype +MONDO:0017692 generalized galactose epimerase deficiency 01-disease-subtype +MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset 01-disease-subtype +MONDO:0017695 glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form 01-disease-subtype +MONDO:0017696 glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form 01-disease-subtype +MONDO:0017697 glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form 01-disease-subtype +MONDO:0017698 glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form 01-disease-subtype +MONDO:0017699 glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form 01-disease-subtype +MONDO:0017700 glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form 01-disease-subtype +MONDO:0017701 glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form 01-disease-subtype +MONDO:0017703 disorder of glyoxylate metabolism 02-disease-root +MONDO:0017704 familial partial epilepsy 01-disease-subtype +MONDO:0017705 congenital pulmonary venous return anomaly 01-disease-subtype +MONDO:0017706 disorder of carbohydrate absorption and transport 03-disease-area +MONDO:0017708 mevalonate kinase deficiency 01-disease-subtype +MONDO:0017709 disorder of lipid absorption and transport 02-disease-root +MONDO:0017711 pancreatic colipase deficiency 01-disease-subtype +MONDO:0017712 combined pancreatic lipase-colipase deficiency 01-disease-subtype +MONDO:0017713 disorder of fatty acid oxidation and ketogenesis 02-disease-root +MONDO:0017714 acyl-CoA dehydrogenase deficiency 01-disease-subtype +MONDO:0017715 3-hydroxyacyl-CoA dehydrogenase deficiency 01-disease-subtype +MONDO:0017716 disorder of carnitine cycle and carnitine transport 02-disease-root +MONDO:0017719 gangliosidosis 02-disease-root +MONDO:0017720 GM2 gangliosidosis 03-disease-area +MONDO:0017721 Sandhoff disease, infantile form 01-disease-subtype +MONDO:0017722 Sandhoff disease, juvenile form 01-disease-subtype +MONDO:0017723 Sandhoff disease, adult form 01-disease-subtype +MONDO:0017724 Tay-Sachs disease, b variant, infantile form 01-disease-subtype +MONDO:0017725 Tay-Sachs disease, b variant, juvenile form 01-disease-subtype +MONDO:0017726 Tay-Sachs disease, b variant, adult form 01-disease-subtype +MONDO:0017728 Tay-Sachs disease, B1 variant 01-disease-subtype +MONDO:0017729 metachromatic leukodystrophy, late infantile form 01-disease-subtype +MONDO:0017730 metachromatic leukodystrophy, adult form 01-disease-subtype +MONDO:0017731 glycoproteinosis 03-disease-area +MONDO:0017732 alpha-mannosidosis, infantile form 01-disease-subtype +MONDO:0017733 alpha-mannosidosis, adult form 01-disease-subtype +MONDO:0017734 sialidosis 02-disease-root +MONDO:0017736 disorder of sialic acid metabolism 02-disease-root +MONDO:0017737 intermediate severe Salla disease 01-disease-subtype +MONDO:0017738 lysosomal glycogen storage disease 02-disease-root +MONDO:0017739 disorder of lysosomal-related organelles 03-disease-area +MONDO:0017740 disorder of protein N-glycosylation 03-disease-area +MONDO:0017741 disorder of protein O-glycosylation 03-disease-area +MONDO:0017742 disorder of O-xylosylglycan synthesis 02-disease-root +MONDO:0017743 disorder of O-N-acetylgalactosaminylglycan synthesis 02-disease-root +MONDO:0017744 disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis 02-disease-root +MONDO:0017745 disorder of O-mannosylglycan synthesis 02-disease-root +MONDO:0017746 atypical Rett syndrome 02-disease-root +MONDO:0017747 disorder of fucoglycosan synthesis 02-disease-root +MONDO:0017748 inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation 02-disease-root +MONDO:0017749 disorder of multiple glycosylation 02-disease-root +MONDO:0017750 defect in conserved oligomeric Golgi complex 03-disease-area +MONDO:0017752 defect in V-ATPase 01-disease-subtype +MONDO:0017754 inborn disorder of porphyrin metabolism 03-disease-area +MONDO:0017755 inborn disorder of bilirubin metabolism 03-disease-area +MONDO:0017756 disorder of pterin metabolism 01-disease-subtype +MONDO:0017757 disorder of metabolite absorption and transport 03-disease-area +MONDO:0017758 disorder of vitamin and non-protein cofactor absorption and transport 02-disease-root +MONDO:0017759 disorder of catecholamine synthesis 01-disease-subtype +MONDO:0017760 disorder of other vitamins and cofactors metabolism and transport 01-disease-subtype +MONDO:0017761 disorder of mineral absorption and transport 02-disease-root +MONDO:0017762 disorder of copper metabolism 01-disease-subtype +MONDO:0017763 disorder of iron metabolism and transport 01-disease-subtype +MONDO:0017764 disorder of zinc metabolism 01-disease-subtype +MONDO:0017765 disorder of magnesium transport 01-disease-subtype +MONDO:0017766 disorder of manganese transport 01-disease-subtype +MONDO:0017769 acquired immunodeficiency 03-disease-area +MONDO:0017770 Robinow-like syndrome 02-disease-root +MONDO:0017771 Mayer-Rokitansky-Kuster-Hauser syndrome 01-disease-subtype +MONDO:0017773 hypoalphalipoproteinemia 03-disease-area +MONDO:0017774 hypobetalipoproteinemia 01-disease-subtype +MONDO:0017778 lamellar ichthyosis 01-disease-subtype +MONDO:0017779 alpha-N-acetylgalactosaminidase deficiency 02-disease-root +MONDO:0017780 20p13 microdeletion syndrome 01-disease-subtype +MONDO:0017781 12p12.1 microdeletion syndrome 01-disease-subtype +MONDO:0017782 developmental and speech delay due to SOX5 deficiency 02-disease-root +MONDO:0017785 PENS syndrome 02-disease-root +MONDO:0017786 2q23.1 microduplication syndrome 01-disease-subtype +MONDO:0017787 erythroderma desquamativum 02-disease-root +MONDO:0017788 contractures - webbed neck - micrognathia - hypoplastic nipples syndrome 02-disease-root +MONDO:0017791 high bone mass osteogenesis imperfecta 01-disease-subtype +MONDO:0017792 7p22.1 microduplication syndrome 01-disease-subtype +MONDO:0017793 marfanoid habitus-inguinal hernia-advanced bone age syndrome 02-disease-root +MONDO:0017794 Xq12-q13.3 duplication syndrome 01-disease-subtype +MONDO:0017795 ameloblastoma 02-disease-root +MONDO:0017804 autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome 02-disease-root +MONDO:0017805 intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome 01-disease-subtype +MONDO:0017806 15q overgrowth syndrome 01-disease-subtype +MONDO:0017808 duplication of the pituitary gland 02-disease-root +MONDO:0017809 parkinsonism due to ATP13A2 deficiency 01-disease-subtype +MONDO:0017810 variant ABeta2M amyloidosis 01-disease-subtype +MONDO:0017811 severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion 01-disease-subtype +MONDO:0017812 segmental progressive overgrowth syndrome with fibroadipose hyperplasia 01-disease-subtype +MONDO:0017813 van Maldergem syndrome 02-disease-root +MONDO:0017814 primary bone lymphoma 03-disease-area +MONDO:0017815 acquired porencephaly 01-disease-subtype +MONDO:0017816 primary systemic amyloidosis 01-disease-subtype +MONDO:0017817 primary localized amyloidosis 01-disease-subtype +MONDO:0017818 lethal arteriopathy syndrome due to fibulin-4 deficiency 02-disease-root +MONDO:0017819 atypical dentin dysplasia due to SMOC2 deficiency 01-disease-subtype +MONDO:0017824 familial isolated pituitary adenoma 02-disease-root +MONDO:0017828 primary renal tubular acidosis 03-disease-area +MONDO:0017829 autosomal dominant proximal renal tubular acidosis 01-disease-subtype +MONDO:0017830 severe Canavan disease 01-disease-subtype +MONDO:0017831 mild Canavan disease 01-disease-subtype +MONDO:0017836 erythrokeratoderma en cocardes 02-disease-root +MONDO:0017837 multiple sclerosis-ichthyosis-factor VIII deficiency syndrome 02-disease-root +MONDO:0017838 sclerosteosis 02-disease-root +MONDO:0017839 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form 01-disease-subtype +MONDO:0017840 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form 01-disease-subtype +MONDO:0017842 Senior-Loken syndrome 02-disease-root +MONDO:0017845 spastic ataxia 02-disease-root +MONDO:0017846 autosomal dominant spastic ataxia 01-disease-subtype +MONDO:0017847 autosomal recessive spastic ataxia 03-disease-area +MONDO:0017849 Siegler-Brewer-Carey syndrome 02-disease-root +MONDO:0017850 sirenomelia 01-disease-subtype +MONDO:0017851 erythrokeratodermia variabilis 02-disease-root +MONDO:0017852 infantile spasms-broad thumbs syndrome 01-disease-subtype +MONDO:0017853 hypersensitivity pneumonitis 01-disease-subtype +MONDO:0017855 T-B- severe combined immunodeficiency 02-disease-root +MONDO:0017856 X-linked spasticity-intellectual disability-epilepsy syndrome 02-disease-root +MONDO:0017857 spina bifida-hypospadias syndrome 02-disease-root +MONDO:0017867 distal 17p13.1 microdeletion syndrome 01-disease-subtype +MONDO:0017868 diencephalic-mesencephalic junction dysplasia 02-disease-root +MONDO:0017869 chondroectodermal dysplasia with night blindness 02-disease-root +MONDO:0017891 inherited renal cancer-predisposing syndrome 03-disease-area +MONDO:0017892 autosomal recessive myogenic arthrogryposis multiplex congenita 01-disease-subtype +MONDO:0017893 inherited acute myeloid leukemia 01-disease-subtype +MONDO:0017894 acute myeloid leukemia with CEBPA somatic mutations 01-disease-subtype +MONDO:0017895 familial papillary or follicular thyroid carcinoma 01-disease-subtype +MONDO:0017896 familial nonmedullary thyroid carcinoma 02-disease-root +MONDO:0017900 autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency 02-disease-root +MONDO:0017902 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency 02-disease-root +MONDO:0017904 steroid dehydrogenase deficiency-dental anomalies syndrome 02-disease-root +MONDO:0017906 amyloidosis cutis dyschromia 01-disease-subtype +MONDO:0017909 inherited glutathione synthetase deficiency 01-disease-subtype +MONDO:0017910 dehydrated hereditary stomatocytosis 01-disease-subtype +MONDO:0017912 X-linked pure spastic paraplegia 01-disease-subtype +MONDO:0017913 pure or complex hereditary spastic paraplegia 01-disease-subtype +MONDO:0017914 pure or complex autosomal dominant spastic paraplegia 01-disease-subtype +MONDO:0017915 pure or complex autosomal recessive spastic paraplegia 01-disease-subtype +MONDO:0017916 pure or complex X-linked spastic paraplegia 01-disease-subtype +MONDO:0017917 maternally-inherited spastic paraplegia 02-disease-root +MONDO:0017918 white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome 02-disease-root +MONDO:0017919 exstrophy-epispadias complex 02-disease-root +MONDO:0017920 deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome 02-disease-root +MONDO:0017921 hearing loss-familial salivary gland insensitivity to aldosterone syndrome 02-disease-root +MONDO:0017922 deafness-onychodystrophy syndrome 01-disease-subtype +MONDO:0017923 multiple synostoses syndrome 02-disease-root +MONDO:0017924 central nervous system calcification-deafness-tubular acidosis-anemia syndrome 02-disease-root +MONDO:0017925 T-cell immunodeficiency with epidermodysplasia verruciformis 02-disease-root +MONDO:0017927 severe lateral tibial bowing with short stature 01-disease-subtype +MONDO:0017928 9p13 microdeletion syndrome 01-disease-subtype +MONDO:0017929 congenital achiasma 02-disease-root +MONDO:0017930 mixed sclerosing bone dystrophy with extra-skeletal manifestations 02-disease-root +MONDO:0017931 hereditary inclusion body myopathy type 4 01-disease-subtype +MONDO:0017932 muscular hypertrophy-hepatomegaly-polyhydramnios syndrome 02-disease-root +MONDO:0017933 hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation 02-disease-root +MONDO:0017934 aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome 02-disease-root +MONDO:0017935 hyperinsulinism due to HNF1A deficiency 01-disease-subtype +MONDO:0017936 benign Samaritan congenital myopathy 01-disease-subtype +MONDO:0017937 autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain 01-disease-subtype +MONDO:0017939 classic multiminicore myopathy 01-disease-subtype +MONDO:0017940 autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation 01-disease-subtype +MONDO:0017945 ABetaL34V amyloidosis 01-disease-subtype +MONDO:0017946 ABeta amyloidosis, Iowa type 01-disease-subtype +MONDO:0017947 ABeta amyloidosis, Italian type 01-disease-subtype +MONDO:0017948 ABetaA21G amyloidosis 01-disease-subtype +MONDO:0017949 ABeta amyloidosis, Arctic type 01-disease-subtype +MONDO:0017950 microcephalic primordial dwarfism 03-disease-area +MONDO:0017951 trichorhinophalangeal syndrome 02-disease-root +MONDO:0017953 hereditary periodic fever syndrome 03-disease-area +MONDO:0017954 pyogenic autoinflammatory syndrome 02-disease-root +MONDO:0017955 granulomatous autoinflammatory syndrome 02-disease-root +MONDO:0017961 46,XX disorder of gonadal development 02-disease-root +MONDO:0017962 46,XX disorder of sex development induced by fetoplacental androgens excess 01-disease-subtype +MONDO:0017966 46,XY disorder of gonadal development 01-disease-subtype +MONDO:0017967 testicular agenesis 01-disease-subtype +MONDO:0017968 46,XY ovotesticular disorder of sex development 01-disease-subtype +MONDO:0017969 46,XY disorder of sex development of endocrine origin 01-disease-subtype +MONDO:0017972 classic congenital lipoid adrenal hyperplasia due to STAR deficency 01-disease-subtype +MONDO:0017973 non-classic congenital lipoid adrenal hyperplasia due to STAR deficency 01-disease-subtype +MONDO:0017975 sex chromosome disorder of sex development 02-disease-root +MONDO:0017979 autoimmune lymphoproliferative syndrome 01-disease-subtype +MONDO:0017980 syngnathia multiple anomalies 02-disease-root +MONDO:0017981 syngnathia-cleft palate syndrome 02-disease-root +MONDO:0017983 humero-radio-ulnar synostosis 02-disease-root +MONDO:0017984 familial lambdoid synostosis 01-disease-subtype +MONDO:0017985 congenital radioulnar synostosis 02-disease-root +MONDO:0017986 disorder of plasmalogens biosynthesis 02-disease-root +MONDO:0017987 syringomyelia 02-disease-root +MONDO:0017989 His bundle tachycardia 02-disease-root +MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia 02-disease-root +MONDO:0017992 autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis 02-disease-root +MONDO:0017994 severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency 01-disease-subtype +MONDO:0017995 spondylocostal dysostosis-hypospadias-intellectual disability syndrome 02-disease-root +MONDO:0017997 telecanthus-hypertelorism-strabismus-pes cavus syndrome 02-disease-root +MONDO:0017998 PLA2G6-associated neurodegeneration 01-disease-subtype +MONDO:0017999 fatty acid hydroxylase-associated neurodegeneration 01-disease-subtype +MONDO:0018000 hereditary thrombocytosis with transverse limb defect 02-disease-root +MONDO:0018001 inverse Klippel-Trenaunay syndrome 02-disease-root +MONDO:0018002 adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy 02-disease-root +MONDO:0018005 spastic paraplegia-Paget disease of bone syndrome 02-disease-root +MONDO:0018006 adult-onset distal myopathy due to VCP mutation 02-disease-root +MONDO:0018007 mosaic genome-wide paternal uniparental disomy 02-disease-root +MONDO:0018010 juvenile idiopathic inflammatory myopathy 01-disease-subtype +MONDO:0018013 non-immunoglobulin-mediated membranoproliferative glomerulonephritis 01-disease-subtype +MONDO:0018014 transient neonatal multiple acyl-CoA dehydrogenase deficiency 01-disease-subtype +MONDO:0018015 intermittent hydrarthrosis 02-disease-root +MONDO:0018021 hypotrichosis-deafness syndrome 01-disease-subtype +MONDO:0018022 hemoglobin Lepore-beta-thalassemia syndrome 02-disease-root +MONDO:0018023 hemoglobin M disease 01-disease-subtype +MONDO:0018026 tetraploidy syndrome 01-disease-subtype +MONDO:0018027 duplication/inversion 15q11 01-disease-subtype +MONDO:0018028 tetrasomy 5p 01-disease-subtype +MONDO:0018029 congenital factor XIII deficiency 01-disease-subtype +MONDO:0018030 tetrasomy 9p 01-disease-subtype +MONDO:0018037 hyper-IgE syndrome 02-disease-root +MONDO:0018039 selective IgM deficiency 01-disease-subtype +MONDO:0018043 Thomas syndrome 02-disease-root +MONDO:0018044 idiopathic hypersomnia 02-disease-root +MONDO:0018045 Hoyeraal-Hreidarsson syndrome 01-disease-subtype +MONDO:0018046 thrombocytopenia-robin sequence syndrome 02-disease-root +MONDO:0018047 familial thrombomodulin anomalies 02-disease-root +MONDO:0018050 tibial aplasia-ectrodactyly syndrome 02-disease-root +MONDO:0018052 hypoplastic tibiae-postaxial polydactyly syndrome 01-disease-subtype +MONDO:0018053 trichothiodystrophy 02-disease-root +MONDO:0018054 familial atrial fibrillation 02-disease-root +MONDO:0018060 congenital fibrinogen deficiency 02-disease-root +MONDO:0018061 trichodermodysplasia-dental alterations syndrome 02-disease-root +MONDO:0018062 autosomal dominant trichoodontoonychodysplasia-syndactyly 02-disease-root +MONDO:0018064 trigonocephaly-broad thumbs syndrome 02-disease-root +MONDO:0018065 isolated trigonocephaly 02-disease-root +MONDO:0018066 trisomy X 02-disease-root +MONDO:0018067 triploidy 01-disease-subtype +MONDO:0018068 trisomy 13 01-disease-subtype +MONDO:0018069 distal trisomy 17q 01-disease-subtype +MONDO:0018070 familial multiple fibrofolliculoma 02-disease-root +MONDO:0018071 trisomy 18 01-disease-subtype +MONDO:0018072 persistent truncus arteriosus 01-disease-subtype +MONDO:0018075 neural tube defect 03-disease-area +MONDO:0018076 tuberculosis 03-disease-area +MONDO:0018079 thymic epithelial neoplasm 03-disease-area +MONDO:0018083 transient tyrosinemia of the newborn 01-disease-subtype +MONDO:0018085 umbilical cord ulceration-intestinal atresia syndrome 01-disease-subtype +MONDO:0018086 ulerythema ophryogenesis 01-disease-subtype +MONDO:0018087 viral hemorrhagic fever 01-disease-subtype +MONDO:0018088 familial Mediterranean fever 02-disease-root +MONDO:0018089 double outlet right ventricle 01-disease-subtype +MONDO:0018091 microcephaly-brachydactyly-kyphoscoliosis syndrome 02-disease-root +MONDO:0018092 Vogt-Koyanagi-Harada disease 01-disease-subtype +MONDO:0018094 Waardenburg syndrome 02-disease-root +MONDO:0018095 Weaver-Williams syndrome 02-disease-root +MONDO:0018096 Weill-Marchesani syndrome 02-disease-root +MONDO:0018097 West syndrome 01-disease-subtype +MONDO:0018098 autosomal dominant limb-girdle muscular dystrophy type 1E (DES) 01-disease-subtype +MONDO:0018100 familial primary hypomagnesemia 02-disease-root +MONDO:0018101 familial primary hypomagnesemia with normocalciuria and normocalcemia 01-disease-subtype +MONDO:0018102 corneal dystrophy 03-disease-area +MONDO:0018105 Wolfram syndrome 02-disease-root +MONDO:0018106 hereditary xanthinuria 02-disease-root +MONDO:0018109 fulminant viral hepatitis 02-disease-root +MONDO:0018112 isolated scaphocephaly 01-disease-subtype +MONDO:0018113 isolated plagiocephaly 01-disease-subtype +MONDO:0018114 isolated brachycephaly 01-disease-subtype +MONDO:0018115 epidermal nevus syndrome 02-disease-root +MONDO:0018116 galactosemia 02-disease-root +MONDO:0018117 disorder of phospholipids, sphingolipids and fatty acids biosynthesis 02-disease-root +MONDO:0018121 mitochondrial DNA maintenance syndrome 02-disease-root +MONDO:0018122 digital anomalies-intellectual disability-short stature syndrome 02-disease-root +MONDO:0018123 intellectual disability-obesity-brain malformations-facial dysmorphism syndrome 02-disease-root +MONDO:0018125 focal epilepsy-intellectual disability-cerebro-cerebellar malformation 01-disease-subtype +MONDO:0018126 progressive myoclonic epilepsy with dystonia 01-disease-subtype +MONDO:0018127 16q24.1 microdeletion syndrome 01-disease-subtype +MONDO:0018128 phalangeal microgeodic syndrome 02-disease-root +MONDO:0018129 autosomal recessive cerebellar ataxia with late-onset spasticity 01-disease-subtype +MONDO:0018130 brain dopamine-serotonin vesicular transport disease 01-disease-subtype +MONDO:0018131 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion 01-disease-subtype +MONDO:0018133 attenuated Chédiak-Higashi syndrome 02-disease-root +MONDO:0018134 disorder of melanin metabolism 02-disease-root +MONDO:0018135 oculocutaneous albinism type 1 01-disease-subtype +MONDO:0018136 minimal pigment oculocutaneous albinism type 1 01-disease-subtype +MONDO:0018137 temperature-sensitive oculocutaneous albinism type 1 01-disease-subtype +MONDO:0018141 pyruvate carboxylase deficiency, infantile form 01-disease-subtype +MONDO:0018142 pyruvate carboxylase deficiency, severe neonatal type 01-disease-subtype +MONDO:0018143 pyruvate carboxylase deficiency, benign type 01-disease-subtype +MONDO:0018144 congenital myasthenic syndromes with glycosylation defect 01-disease-subtype +MONDO:0018149 GM1 gangliosidosis 01-disease-subtype +MONDO:0018150 Gaucher disease 02-disease-root +MONDO:0018151 coenzyme Q10 deficiency 02-disease-root +MONDO:0018154 Madelung deformity 01-disease-subtype +MONDO:0018155 lateral sclerosis 02-disease-root +MONDO:0018156 3q26q27 microdeletion syndrome 01-disease-subtype +MONDO:0018158 mitochondrial DNA depletion syndrome 02-disease-root +MONDO:0018159 atypical hemolytic-uremic syndrome with DGKE deficiency 01-disease-subtype +MONDO:0018160 hereditary retinoblastoma 01-disease-subtype +MONDO:0018162 neurometabolic disorder due to serine deficiency 01-disease-subtype +MONDO:0018163 autosomal recessive cutis laxa type 2A 01-disease-subtype +MONDO:0018168 primary non-essential cutis verticis gyrata 01-disease-subtype +MONDO:0018169 morning glory syndrome 01-disease-subtype +MONDO:0018170 idiopathic nephrotic syndrome 03-disease-area +MONDO:0018171 malignant germ cell tumor of ovary 01-disease-subtype +MONDO:0018174 hereditary glaucoma 01-disease-subtype +MONDO:0018175 combined deficiency of factor V and factor VIII 02-disease-root +MONDO:0018178 intestinal lymphangiectasia 02-disease-root +MONDO:0018185 congenital anomaly of the great veins 02-disease-root +MONDO:0018187 genetic syndromic Pierre Robin syndrome 02-disease-root +MONDO:0018188 genetic intestinal polyposis 03-disease-area +MONDO:0018189 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome 01-disease-subtype +MONDO:0018190 autosomal dominant childhood-onset proximal spinal muscular atrophy 02-disease-root +MONDO:0018191 tumor of testis and paratestis 03-disease-area +MONDO:0018197 mitochondrial DNA depletion syndrome, hepatocerebrorenal form 01-disease-subtype +MONDO:0018201 extragonadal germ cell tumor 01-disease-subtype +MONDO:0018202 gonadal germ cell tumor 01-disease-subtype +MONDO:0018203 LMNA-related cardiocutaneous progeria syndrome 02-disease-root +MONDO:0018204 20q11.2 microduplication syndrome 01-disease-subtype +MONDO:0018205 distal monosomy 1q 01-disease-subtype +MONDO:0018206 childhood-onset autosomal recessive myopathy with external ophthalmoplegia 01-disease-subtype +MONDO:0018207 2p13.2 microdeletion syndrome 01-disease-subtype +MONDO:0018208 neurofibromatosis type 1 due to NF1 mutation or intragenic deletion 01-disease-subtype +MONDO:0018209 Alexander disease type I 01-disease-subtype +MONDO:0018210 Alexander disease type II 01-disease-subtype +MONDO:0018212 familial cervical artery dissection 01-disease-subtype +MONDO:0018213 hereditary sensory and autonomic neuropathy type 1 01-disease-subtype +MONDO:0018214 generalized epilepsy with febrile seizures plus 02-disease-root +MONDO:0018215 paraneoplastic neurologic syndrome 03-disease-area +MONDO:0018216 Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome 01-disease-subtype +MONDO:0018217 Koolen-de Vries syndrome due to a point mutation 01-disease-subtype +MONDO:0018218 autosomal recessive cerebral atrophy 02-disease-root +MONDO:0018222 X-linked intellectual disability due to GRIA3 anomalies 02-disease-root +MONDO:0018226 infantile epileptic-dyskinetic encephalopathy 01-disease-subtype +MONDO:0018228 bipartite talus 02-disease-root +MONDO:0018230 primary bone dysplasia 03-disease-area +MONDO:0018233 otopalatodigital syndrome spectrum disorder 02-disease-root +MONDO:0018234 dysostosis 03-disease-area +MONDO:0018237 acrofacial dysostosis 02-disease-root +MONDO:0018239 aggrecan-related bone disorder 03-disease-area +MONDO:0018240 TRPV4-related bone disorder 03-disease-area +MONDO:0018241 primary short bowel syndrome 01-disease-subtype +MONDO:0018242 autoimmune hypoparathyroidism 02-disease-root +MONDO:0018243 intellectual disability-hyperkinetic movement-truncal ataxia syndrome 02-disease-root +MONDO:0018244 obesity due to SIM1 deficiency 01-disease-subtype +MONDO:0018245 2p21 microdeletion syndrome without cystinuria 01-disease-subtype +MONDO:0018246 homozygous 2p21 microdeletion syndrome 01-disease-subtype +MONDO:0018247 CADDS 02-disease-root +MONDO:0018248 intellectual disability-seizures-macrocephaly-obesity syndrome 02-disease-root +MONDO:0018249 finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome 02-disease-root +MONDO:0018250 diffuse palmoplantar keratoderma with painful fissures 01-disease-subtype +MONDO:0018252 focal palmoplantar keratoderma with joint keratoses 01-disease-subtype +MONDO:0018253 intellectual disability-facial dysmorphism-hand anomalies syndrome 02-disease-root +MONDO:0018254 spondyloepimetaphyseal dysplasia, Isidor type 01-disease-subtype +MONDO:0018255 spondylometaphyseal dysplasia, Czarny-Ratajczak type 02-disease-root +MONDO:0018257 familial syringomyelia 01-disease-subtype +MONDO:0018262 fetal anticonvulsant syndrome 02-disease-root +MONDO:0018264 oculocutaneous albinism type 6 01-disease-subtype +MONDO:0018266 ataxia - telangiectasia variant 01-disease-subtype +MONDO:0018267 combined cervical dystonia 01-disease-subtype +MONDO:0018268 Medich giant platelet syndrome 01-disease-subtype +MONDO:0018269 white platelet syndrome 01-disease-subtype +MONDO:0018271 peripheral primitive neuroectodermal tumor 01-disease-subtype +MONDO:0018273 XYLT1-CDG 01-disease-subtype +MONDO:0018274 GM3 synthase deficiency 01-disease-subtype +MONDO:0018276 muscular dystrophy-dystroglycanopathy 03-disease-area +MONDO:0018277 congenital muscular dystrophy with cerebellar involvement 01-disease-subtype +MONDO:0018278 congenital muscular dystrophy with intellectual disability 01-disease-subtype +MONDO:0018279 congenital muscular dystrophy without intellectual disability 01-disease-subtype +MONDO:0018280 muscle-eye-brain disease with bilateral multicystic leucodystrophy 01-disease-subtype +MONDO:0018281 congenital muscular dystrophy with hyperlaxity 02-disease-root +MONDO:0018282 qualitative or quantitative defects of alpha-dystroglycan 03-disease-area +MONDO:0018283 primary qualitative or quantitative defects of alpha-dystroglycan 02-disease-root +MONDO:0018292 congenital disorder of glycosylation-related bone disorder 03-disease-area +MONDO:0018298 multicentric osteolysis-nodulosis-arthropathy spectrum 02-disease-root +MONDO:0018303 generalized isolated dystonia 01-disease-subtype +MONDO:0018305 chronic granulomatous disease 02-disease-root +MONDO:0018306 Griscelli syndrome 02-disease-root +MONDO:0018307 neurodegeneration with brain iron accumulation 02-disease-root +MONDO:0018309 Hirschsprung disease 02-disease-root +MONDO:0018314 infantile-onset mesial temporal lobe epilepsy with severe cognitive regression 01-disease-subtype +MONDO:0018315 X-linked osteoporosis with fractures 01-disease-subtype +MONDO:0018316 fatal post-viral neurodegenerative disorder 02-disease-root +MONDO:0018317 growth retardation-mild developmental delay-chronic hepatitis syndrome 01-disease-subtype +MONDO:0018318 disorder of asparagine metabolism 02-disease-root +MONDO:0018319 familial episodic pain syndrome 02-disease-root +MONDO:0018320 primary microcephaly-mild intellectual disability-young-onset diabetes syndrome 01-disease-subtype +MONDO:0018321 atypical juvenile parkinsonism 02-disease-root +MONDO:0018322 HSD10 disease, infantile type 01-disease-subtype +MONDO:0018323 HSD10 disease, neonatal type 01-disease-subtype +MONDO:0018327 glomus tumor 02-disease-root +MONDO:0018328 homozygous familial hypercholesterolemia 01-disease-subtype +MONDO:0018329 persistent combined dystonia 02-disease-root +MONDO:0018330 mucinous adenocarcinoma of the appendix 01-disease-subtype +MONDO:0018332 multiple acyl-CoA dehydrogenase deficiency, severe neonatal type 01-disease-subtype +MONDO:0018333 multiple acyl-CoA dehydrogenase deficiency, mild type 01-disease-subtype +MONDO:0018337 severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency 02-disease-root +MONDO:0018338 activated PI3K-delta syndrome 01-disease-subtype +MONDO:0018339 PrP systemic amyloidosis 01-disease-subtype +MONDO:0018340 hereditary isolated aplastic anemia 01-disease-subtype +MONDO:0018341 3q27.3 microdeletion syndrome 01-disease-subtype +MONDO:0018342 Joubert syndrome with Jeune asphyxiating thoracic dystrophy 01-disease-subtype +MONDO:0018343 periodic paralysis with later-onset distal motor neuropathy 01-disease-subtype +MONDO:0018344 periodic paralysis with transient compartment-like syndrome 02-disease-root +MONDO:0018346 ferro-cerebro-cutaneous syndrome 01-disease-subtype +MONDO:0018347 severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome 02-disease-root +MONDO:0018349 MAN1B1-CDG 02-disease-root +MONDO:0018352 squamous cell carcinoma of penis 01-disease-subtype +MONDO:0018354 Prader-Willi-like syndrome 02-disease-root +MONDO:0018355 SIM1-related Prader-Willi-like syndrome 01-disease-subtype +MONDO:0018356 secondary neonatal autoimmune disease 03-disease-area +MONDO:0018363 focal facial dermal dysplasia 02-disease-root +MONDO:0018364 malignant epithelial tumor of ovary 03-disease-area +MONDO:0018365 malignant non-epithelial tumor of ovary 03-disease-area +MONDO:0018370 KLHL9-related early-onset distal myopathy 02-disease-root +MONDO:0018371 nebulin-related early-onset distal myopathy 02-disease-root +MONDO:0018373 avascular necrosis 03-disease-area +MONDO:0018374 secondary avascular necrosis 02-disease-root +MONDO:0018379 primary avascular necrosis 02-disease-root +MONDO:0018383 osteonecrosis of genetic origin 03-disease-area +MONDO:0018384 avascular necrosis of genetic origin 02-disease-root +MONDO:0018385 osteochondrosis of genetic origin 02-disease-root +MONDO:0018393 male infertility with azoospermia or oligozoospermia due to single gene mutation 02-disease-root +MONDO:0018394 male infertility with teratozoospermia due to single gene mutation 02-disease-root +MONDO:0018416 autosomal recessive spastic paraplegia type 59 02-disease-root +MONDO:0018417 autosomal recessive spastic paraplegia type 60 02-disease-root +MONDO:0018418 autosomal recessive spastic paraplegia type 66 02-disease-root +MONDO:0018419 autosomal recessive spastic paraplegia type 67 02-disease-root +MONDO:0018420 autosomal recessive spastic paraplegia type 68 02-disease-root +MONDO:0018421 autosomal recessive spastic paraplegia type 69 02-disease-root +MONDO:0018422 autosomal recessive spastic paraplegia type 70 02-disease-root +MONDO:0018423 autosomal recessive spastic paraplegia type 71 01-disease-subtype +MONDO:0018424 inherited lipoic acid biosynthesis defect 03-disease-area +MONDO:0018425 Huntington disease-like syndrome due to C9ORF72 expansions 02-disease-root +MONDO:0018426 AXIN2-related attenuated familial adenomatous polyposis 01-disease-subtype +MONDO:0018428 9q31.1q31.3 microdeletion syndrome 01-disease-subtype +MONDO:0018429 14q24.1q24.3 microdeletion syndrome 01-disease-subtype +MONDO:0018430 partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome 02-disease-root +MONDO:0018431 cold-induced sweating syndrome - hyperthermia spectrum 01-disease-subtype +MONDO:0018438 eosinophilic gastrointestinal disease 03-disease-area +MONDO:0018440 autosomal recessive distal renal tubular acidosis 01-disease-subtype +MONDO:0018443 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome 02-disease-root +MONDO:0018445 global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome 01-disease-subtype +MONDO:0018446 autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome 01-disease-subtype +MONDO:0018450 spinal muscular atrophy with respiratory distress type 2 01-disease-subtype +MONDO:0018451 X-linked distal hereditary motor neuropathy 02-disease-root +MONDO:0018453 familial atypical multiple mole melanoma syndrome 02-disease-root +MONDO:0018454 dysostosis of genetic origin 03-disease-area +MONDO:0018458 familial hypocalciuric hypercalcemia 02-disease-root +MONDO:0018459 isolated glycerol kinase deficiency 01-disease-subtype +MONDO:0018469 pulmonary non-tuberculous mycobacterial infection 02-disease-root +MONDO:0018470 renal agenesis 02-disease-root +MONDO:0018473 hyperlipoproteinemia type 3 02-disease-root +MONDO:0018477 bilirubin encephalopathy 02-disease-root +MONDO:0018479 congenital adrenal hyperplasia 02-disease-root +MONDO:0018485 glycogen storage disease due to acid maltase deficiency, late-onset 01-disease-subtype +MONDO:0018491 3-phosphoglycerate dehydrogenase deficiency 01-disease-subtype +MONDO:0018492 hereditary clear cell renal cell carcinoma 01-disease-subtype +MONDO:0018493 malignant hyperthermia of anesthesia 02-disease-root +MONDO:0018496 ARX-related encephalopathy-brain malformation spectrum 02-disease-root +MONDO:0018502 hereditary gastric cancer 01-disease-subtype +MONDO:0018506 mesenchymal tumor of small intestine 02-disease-root +MONDO:0018511 epithelial tumor of the appendix 03-disease-area +MONDO:0018513 squamous cell carcinoma of colon 01-disease-subtype +MONDO:0018515 squamous cell carcinoma of rectum 01-disease-subtype +MONDO:0018521 squamous cell carcinoma of pancreas 01-disease-subtype +MONDO:0018528 congenital myopathy with myasthenic-like onset 01-disease-subtype +MONDO:0018529 qualitative or quantitative defects of Torsin-1A-interacting protein 1 02-disease-root +MONDO:0018531 carcinoma of liver and intrahepatic biliary tract 03-disease-area +MONDO:0018532 adenocarcinoma of liver and intrahepatic biliary tract 02-disease-root +MONDO:0018533 undifferentiated carcinoma of liver and intrahepatic biliary tract 01-disease-subtype +MONDO:0018534 squamous cell carcinoma of liver and intrahepatic biliary tract 01-disease-subtype +MONDO:0018536 adenocarcinoma of gallbladder and extrahepatic biliary tract 01-disease-subtype +MONDO:0018537 squamous cell carcinoma of gallbladder and extrahepatic biliary tract 01-disease-subtype +MONDO:0018538 inherited digestive cancer-predisposing syndrome 03-disease-area +MONDO:0018540 PFAPA syndrome 02-disease-root +MONDO:0018541 familial hypoaldosteronism 02-disease-root +MONDO:0018542 severe congenital neutropenia 02-disease-root +MONDO:0018543 autosomal dominant hypocalcemia 02-disease-root +MONDO:0018544 adrenoleukodystrophy 01-disease-subtype +MONDO:0018550 spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder 02-disease-root +MONDO:0018555 hypogonadotropic hypogonadism 02-disease-root +MONDO:0018559 fetal lower urinary tract obstruction 02-disease-root +MONDO:0018561 precocious puberty in female 01-disease-subtype +MONDO:0018562 genetic otorhinolaryngological malformation 03-disease-area +MONDO:0018563 adactyly of foot 02-disease-root +MONDO:0018565 congenital urachal anomaly 01-disease-subtype +MONDO:0018570 hypophosphatasia 02-disease-root +MONDO:0018575 microcephalic primordial dwarfism-insulin resistance syndrome 01-disease-subtype +MONDO:0018580 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 02-disease-root +MONDO:0018582 GCGR-related hyperglucagonemia 02-disease-root +MONDO:0018588 ALECT2 amyloidosis 02-disease-root +MONDO:0018590 ABeta2M amyloidosis 02-disease-root +MONDO:0018591 ITM2B amyloidosis 02-disease-root +MONDO:0018605 disorders of pentose/polyol metabolism 03-disease-area +MONDO:0018609 syndromic hereditary optic neuropathy 03-disease-area +MONDO:0018612 congenital hypothyroidism 03-disease-area +MONDO:0018614 undetermined early-onset epileptic encephalopathy 01-disease-subtype +MONDO:0018630 hereditary nonpolyposis colon cancer 02-disease-root +MONDO:0018631 Marie Unna hereditary hypotrichosis 02-disease-root +MONDO:0018634 hereditary amyloidosis 03-disease-area +MONDO:0018637 familial chylomicronemia syndrome 02-disease-root +MONDO:0018638 pseudohypoaldosteronism 02-disease-root +MONDO:0018639 caudal regression-sirenomelia spectrum 02-disease-root +MONDO:0018640 secondary vasculitis 02-disease-root +MONDO:0018642 NIK deficiency 02-disease-root +MONDO:0018648 Keratocystic odontogenic tumor 02-disease-root +MONDO:0018653 Polymerase proofreading-related adenomatous polyposis 01-disease-subtype +MONDO:0018656 tremor-ataxia-central hypomyelination syndrome 02-disease-root +MONDO:0018660 hemophilia 02-disease-root +MONDO:0018661 Zika virus infectious disease 02-disease-root +MONDO:0018662 autosomal recessive brachyolmia 01-disease-subtype +MONDO:0018663 regressive spondylometaphyseal dysplasia 02-disease-root +MONDO:0018675 IgG4-related ophthalmic disorder 03-disease-area +MONDO:0018677 visceral heterotaxy 02-disease-root +MONDO:0018681 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome 02-disease-root +MONDO:0018683 acquired ichthyosis 02-disease-root +MONDO:0018686 acquired Creutzfeldt-Jakob disease 01-disease-subtype +MONDO:0018696 corticobasal syndrome 02-disease-root +MONDO:0018698 hereditary neuroendocrine tumor of small intestine 02-disease-root +MONDO:0018701 congenital nemaline myopathy 01-disease-subtype +MONDO:0018715 congenital hemangioma 02-disease-root +MONDO:0018720 common cystic lymphatic malformation 01-disease-subtype +MONDO:0018731 lethal multiple congenital anomalies/dysmorphic syndrome 03-disease-area +MONDO:0018740 drug-induced methemoglobinemia 01-disease-subtype +MONDO:0018743 immune-mediated acquired neuromuscular junction disease 02-disease-root +MONDO:0018744 oligodendroglial tumor 02-disease-root +MONDO:0018745 superficial pemphigus 03-disease-area +MONDO:0018749 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome 02-disease-root +MONDO:0018751 genetic otorhinolaryngologic disease 03-disease-area +MONDO:0018758 familial patent arterial duct 01-disease-subtype +MONDO:0018760 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome 02-disease-root +MONDO:0018762 non-acquired combined pituitary hormone deficiency 02-disease-root +MONDO:0018764 microcephalic primordial dwarfism due to RTTN deficiency 02-disease-root +MONDO:0018768 familial cold autoinflammatory syndrome 02-disease-root +MONDO:0018770 Jeune syndrome 02-disease-root +MONDO:0018771 congenital anomaly of ventricular septum 02-disease-root +MONDO:0018772 Joubert syndrome 02-disease-root +MONDO:0018775 axonal hereditary motor and sensory neuropathy 03-disease-area +MONDO:0018776 demyelinating hereditary motor and sensory neuropathy 03-disease-area +MONDO:0018778 intermediate Charcot-Marie-Tooth disease 01-disease-subtype +MONDO:0018779 hypercontractile muscle stiffness syndrome 01-disease-subtype +MONDO:0018781 KID syndrome 02-disease-root +MONDO:0018782 type 1 interferonopathy 03-disease-area +MONDO:0018786 pontine autosomal dominant microangiopathy with leukoencephalopathy 02-disease-root +MONDO:0018788 COL4A1 or COL4A2-related cerebral small vessel disease 02-disease-root +MONDO:0018791 Moyomoya angiopathy 02-disease-root +MONDO:0018794 cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder 01-disease-subtype +MONDO:0018795 syndromic constitutional thrombocytopenia 03-disease-area +MONDO:0018796 isolated constitutional thrombocytopenia 01-disease-subtype +MONDO:0018800 Kallmann syndrome 01-disease-subtype +MONDO:0018801 congenital bilateral absence of vas deferens 02-disease-root +MONDO:0018812 MSH3-related attenuated familial adenomatous polyposis 01-disease-subtype +MONDO:0018814 non-SCID combined immunodeficiency 03-disease-area +MONDO:0018820 recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome 02-disease-root +MONDO:0018827 familial chilblain lupus 02-disease-root +MONDO:0018829 familial schizencephaly 01-disease-subtype +MONDO:0018831 HTRA1-related cerebral small vessel disease 02-disease-root +MONDO:0018837 postinfectious vasculitis 01-disease-subtype +MONDO:0018838 lissencephaly spectrum disorders 03-disease-area +MONDO:0018839 acquired schizencephaly 01-disease-subtype +MONDO:0018843 embryonal carcinoma of the central nervous system 01-disease-subtype +MONDO:0018844 urachal cyst 01-disease-subtype +MONDO:0018848 IgG4-related retroperitoneal fibrosis 02-disease-root +MONDO:0018849 dentinogenesis imperfecta 02-disease-root +MONDO:0018851 familial keratoacanthoma 01-disease-subtype +MONDO:0018852 achromatopsia 02-disease-root +MONDO:0018853 transgrediens et progrediens palmoplantar keratoderma 01-disease-subtype +MONDO:0018855 keratosis pilaris atrophicans 02-disease-root +MONDO:0018858 Graham Little-Piccardi-Lassueur syndrome 02-disease-root +MONDO:0018860 microlissencephaly-micromelia syndrome 02-disease-root +MONDO:0018861 Zellweger-like syndrome without peroxisomal anomalies 02-disease-root +MONDO:0018865 striate palmoplantar keratoderma 01-disease-subtype +MONDO:0018866 Aicardi-Goutieres syndrome 02-disease-root +MONDO:0018868 metachromatic leukodystrophy 02-disease-root +MONDO:0018869 cobblestone lissencephaly 02-disease-root +MONDO:0018870 arterial calcification of infancy 02-disease-root +MONDO:0018875 Li-Fraumeni syndrome 02-disease-root +MONDO:0018877 retinitis punctata albescens 01-disease-subtype +MONDO:0018878 branchiootic syndrome 02-disease-root +MONDO:0018883 Berardinelli-Seip congenital lipodystrophy 01-disease-subtype +MONDO:0018884 Roch-Leri mesosomatous lipomatosis 02-disease-root +MONDO:0018888 congenital cornea plana 01-disease-subtype +MONDO:0018889 hyaline body myopathy 01-disease-subtype +MONDO:0018892 Wyburn-Mason syndrome 01-disease-subtype +MONDO:0018894 distal hereditary motor neuropathy 03-disease-area +MONDO:0018896 thrombotic thrombocytopenic purpura 01-disease-subtype +MONDO:0018898 primary cutaneous lymphoma 03-disease-area +MONDO:0018899 posterior cortical atrophy 02-disease-root +MONDO:0018901 left ventricular noncompaction 02-disease-root +MONDO:0018904 primary membranoproliferative glomerulonephritis 01-disease-subtype +MONDO:0018906 follicular lymphoma 02-disease-root +MONDO:0018910 oculocutaneous albinism 02-disease-root +MONDO:0018911 maturity-onset diabetes of the young 01-disease-subtype +MONDO:0018914 hypotrichosis simplex 02-disease-root +MONDO:0018916 isolated anorectal malformation 02-disease-root +MONDO:0018918 carcinoma of gallbladder and extrahepatic biliary tract 02-disease-root +MONDO:0018919 McCune-Albright syndrome 02-disease-root +MONDO:0018921 Meckel syndrome 02-disease-root +MONDO:0018923 22q11.2 deletion syndrome 01-disease-subtype +MONDO:0018924 microphthalmia, Lenz type 01-disease-subtype +MONDO:0018925 familial or sporadic hemiplegic migraine 01-disease-subtype +MONDO:0018926 human prion disease 03-disease-area +MONDO:0018930 monosomy 21 01-disease-subtype +MONDO:0018931 mucolipidosis type III 01-disease-subtype +MONDO:0018933 Mazabraud syndrome 02-disease-root +MONDO:0018937 mucopolysaccharidosis type 3 01-disease-subtype +MONDO:0018938 mucopolysaccharidosis type 4 01-disease-subtype +MONDO:0018939 muscle-eye-brain disease 01-disease-subtype +MONDO:0018940 congenital myasthenic syndrome 02-disease-root +MONDO:0018943 myofibrillar myopathy 02-disease-root +MONDO:0018944 gestational trophoblastic neoplasm 03-disease-area +MONDO:0018945 McLeod neuroacanthocytosis syndrome 01-disease-subtype +MONDO:0018947 centronuclear myopathy 02-disease-root +MONDO:0018948 multiminicore myopathy 01-disease-subtype +MONDO:0018949 distal myopathy 03-disease-area +MONDO:0018950 3-methylcrotonyl-CoA carboxylase deficiency 02-disease-root +MONDO:0018951 distal myopathy with vocal cord weakness 02-disease-root +MONDO:0018953 parietal foramina 02-disease-root +MONDO:0018954 Loeys-Dietz syndrome 02-disease-root +MONDO:0018956 idiopathic bronchiectasis 01-disease-subtype +MONDO:0018958 nemaline myopathy 02-disease-root +MONDO:0018959 potassium-aggravated myotonia 02-disease-root +MONDO:0018960 congenital primary megaureter 01-disease-subtype +MONDO:0018961 familial melanoma 01-disease-subtype +MONDO:0018962 common mesentery 01-disease-subtype +MONDO:0018963 hereditary methemoglobinemia 01-disease-subtype +MONDO:0018964 homocystinuria without methylmalonic aciduria 01-disease-subtype +MONDO:0018965 Alport syndrome 02-disease-root +MONDO:0018967 short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 01-disease-subtype +MONDO:0018968 iniencephaly 02-disease-root +MONDO:0018969 craniorachischisis 02-disease-root +MONDO:0018971 isolated oxycephaly 01-disease-subtype +MONDO:0018973 patterned dystrophy of the retinal pigment epithelium 02-disease-root +MONDO:0018975 neurofibromatosis type 1 01-disease-subtype +MONDO:0018980 acrofacial dysostosis, Kennedy-Teebi type 01-disease-subtype +MONDO:0018982 Niemann-Pick disease type C 01-disease-subtype +MONDO:0018983 Tolosa-Hunt syndrome 01-disease-subtype +MONDO:0018988 iridocorneal endothelial syndrome 01-disease-subtype +MONDO:0018993 Charcot-Marie-Tooth disease type 2 01-disease-subtype +MONDO:0018994 Charcot-Marie-Tooth disease type X 01-disease-subtype +MONDO:0018995 Charcot-Marie-Tooth disease type 4 02-disease-root +MONDO:0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 01-disease-subtype +MONDO:0018997 Noonan syndrome 02-disease-root +MONDO:0018998 Leber congenital amaurosis 02-disease-root +MONDO:0018999 LCAT deficiency 03-disease-area +MONDO:0019002 Lhermitte-Duclos disease 02-disease-root +MONDO:0019003 multiple endocrine neoplasia type 2 01-disease-subtype +MONDO:0019004 kidney Wilms tumor 01-disease-subtype +MONDO:0019005 nephronophthisis 02-disease-root +MONDO:0019006 familial idiopathic steroid-resistant nephrotic syndrome 01-disease-subtype +MONDO:0019008 benign recurrent intrahepatic cholestasis 02-disease-root +MONDO:0019009 isolated focal cortical dysplasia 01-disease-subtype +MONDO:0019010 congenital isolated hyperinsulinism 01-disease-subtype +MONDO:0019011 Charcot-Marie-Tooth disease type 1 02-disease-root +MONDO:0019012 Carpenter syndrome 02-disease-root +MONDO:0019016 maternally-inherited progressive external ophthalmoplegia 02-disease-root +MONDO:0019017 short fifth metacarpals-insulin resistance syndrome 01-disease-subtype +MONDO:0019019 osteogenesis imperfecta 02-disease-root +MONDO:0019022 sensorineural hearing loss-early graying-essential tremor syndrome 02-disease-root +MONDO:0019026 autosomal recessive osteopetrosis 02-disease-root +MONDO:0019027 otopalatodigital syndrome 01-disease-subtype +MONDO:0019031 thrombocytopenia with congenital dyserythropoietic anemia 01-disease-subtype +MONDO:0019032 X-linked intellectual disability with isolated growth hormone deficiency 02-disease-root +MONDO:0019033 primary cutis verticis gyrata 02-disease-root +MONDO:0019034 accessory pancreas 01-disease-subtype +MONDO:0019037 progressive supranuclear palsy 01-disease-subtype +MONDO:0019040 chromosomal disorder 03-disease-area +MONDO:0019042 multiple congenital anomalies/dysmorphic syndrome 03-disease-area +MONDO:0019044 tumor of hematopoietic and lymphoid tissues 03-disease-area +MONDO:0019046 leukodystrophy 03-disease-area +MONDO:0019050 inherited hemoglobinopathy 03-disease-area +MONDO:0019052 inborn errors of metabolism 03-disease-area +MONDO:0019053 peroxisomal disease 03-disease-area +MONDO:0019054 congenital limb malformation 03-disease-area +MONDO:0019058 neurometabolic disease 03-disease-area +MONDO:0019063 vascular anomaly 03-disease-area +MONDO:0019064 hereditary spastic paraplegia 02-disease-root +MONDO:0019071 pure hair and nail ectodermal dysplasia 02-disease-root +MONDO:0019072 intrahepatic cholestasis 01-disease-subtype +MONDO:0019075 Bosley-Salih-Alorainy syndrome 01-disease-subtype +MONDO:0019078 Ritscher-Schinzel syndrome 02-disease-root +MONDO:0019079 proximal spinal muscular atrophy 02-disease-root +MONDO:0019080 alopecia totalis 02-disease-root +MONDO:0019083 Leigh syndrome with cardiomyopathy 01-disease-subtype +MONDO:0019088 post-transplant lymphoproliferative disease 01-disease-subtype +MONDO:0019091 bronchopulmonary dysplasia 02-disease-root +MONDO:0019093 immunodeficiency due to selective anti-polysaccharide antibody deficiency 02-disease-root +MONDO:0019098 autoimmune thrombocytopenia 02-disease-root +MONDO:0019101 retinal capillary malformation 02-disease-root +MONDO:0019102 dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome 02-disease-root +MONDO:0019107 Rh deficiency syndrome 01-disease-subtype +MONDO:0019111 familial thrombocytosis 02-disease-root +MONDO:0019112 cancer-associated retinopathy 02-disease-root +MONDO:0019113 benign paroxysmal torticollis of infancy 01-disease-subtype +MONDO:0019115 obesity due to melanocortin 4 receptor deficiency 01-disease-subtype +MONDO:0019117 genetic nervous system disorder 03-disease-area +MONDO:0019118 inherited retinal dystrophy 03-disease-area +MONDO:0019120 pili bifurcati 01-disease-subtype +MONDO:0019123 continuous spikes and waves during sleep 01-disease-subtype +MONDO:0019126 intractable diarrhea of infancy 03-disease-area +MONDO:0019128 mullerian aplasia 02-disease-root +MONDO:0019129 global developmental delay-osteopenia-ectodermal defect syndrome 02-disease-root +MONDO:0019130 tubular renal disease-cardiomyopathy syndrome 02-disease-root +MONDO:0019131 ossification anomalies-psychomotor developmental delay syndrome 01-disease-subtype +MONDO:0019132 spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome 01-disease-subtype +MONDO:0019133 visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome 02-disease-root +MONDO:0019138 bleeding diathesis due to a collagen receptor defect 01-disease-subtype +MONDO:0019139 acquired hemophilia 01-disease-subtype +MONDO:0019141 porokeratosis of Mibelli 01-disease-subtype +MONDO:0019142 inherited porphyria 02-disease-root +MONDO:0019144 hereditary thrombophilia due to congenital protein S deficiency 01-disease-subtype +MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency 01-disease-subtype +MONDO:0019148 Wolman disease 01-disease-subtype +MONDO:0019149 cholesteryl ester storage disease 01-disease-subtype +MONDO:0019150 familial isolated restrictive cardiomyopathy 01-disease-subtype +MONDO:0019151 oligocone trichromacy 02-disease-root +MONDO:0019152 Oguchi disease 01-disease-subtype +MONDO:0019153 brain malformation-congenital heart disease-postaxial polydactyly syndrome 02-disease-root +MONDO:0019154 androgen insensitivity syndrome 01-disease-subtype +MONDO:0019155 Leydig cell hypoplasia 02-disease-root +MONDO:0019156 angioosteohypotrophic syndrome 02-disease-root +MONDO:0019161 pseudohypoaldosteronism type 1 01-disease-subtype +MONDO:0019162 pseudohypoaldosteronism type 2 02-disease-root +MONDO:0019164 6q terminal deletion syndrome 01-disease-subtype +MONDO:0019165 central precocious puberty 02-disease-root +MONDO:0019169 pyruvate dehydrogenase deficiency 02-disease-root +MONDO:0019171 familial long QT syndrome 02-disease-root +MONDO:0019172 aniridia 02-disease-root +MONDO:0019175 primary lymphedema 02-disease-root +MONDO:0019176 trichorhinophalangeal syndrome type I or III 01-disease-subtype +MONDO:0019177 odontoleukodystrophy 02-disease-root +MONDO:0019178 auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome 02-disease-root +MONDO:0019179 monosomy 9q22.3 01-disease-subtype +MONDO:0019180 hereditary hemorrhagic telangiectasia 02-disease-root +MONDO:0019181 non-syndromic X-linked intellectual disability 02-disease-root +MONDO:0019182 inherited obesity 01-disease-subtype +MONDO:0019187 Axenfeld-Rieger syndrome 02-disease-root +MONDO:0019188 Rubinstein-Taybi syndrome 02-disease-root +MONDO:0019189 inborn disorder of amino acid and other organic acid metabolism 03-disease-area +MONDO:0019190 juvenile polyposis of infancy 01-disease-subtype +MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis 02-disease-root +MONDO:0019192 AKT2-related familial partial lipodystrophy 01-disease-subtype +MONDO:0019193 acquired generalized lipodystrophy 01-disease-subtype +MONDO:0019195 hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome 01-disease-subtype +MONDO:0019197 folinic acid-responsive seizures 01-disease-subtype +MONDO:0019200 retinitis pigmentosa 02-disease-root +MONDO:0019201 thyrotoxic periodic paralysis 02-disease-root +MONDO:0019202 myxofibrosarcoma 01-disease-subtype +MONDO:0019205 trichodysplasia-amelogenesis imperfecta syndrome 02-disease-root +MONDO:0019206 sparse hair-short stature-skin anomalies syndrome 02-disease-root +MONDO:0019207 DEND syndrome 01-disease-subtype +MONDO:0019211 isolated congenital anonychia 01-disease-subtype +MONDO:0019212 disseminated superficial actinic porokeratosis 01-disease-subtype +MONDO:0019213 cerebral organic aciduria 03-disease-area +MONDO:0019214 inborn carbohydrate metabolic disorder 03-disease-area +MONDO:0019215 classic organic aciduria 03-disease-area +MONDO:0019216 inborn disorder of amino acid absorption and transport 02-disease-root +MONDO:0019218 inborn disorder of bile acid synthesis 02-disease-root +MONDO:0019219 inborn disorder of neurotransmitter metabolism and transport 02-disease-root +MONDO:0019220 inborn disorder of cobalamin metabolism and transport 01-disease-subtype +MONDO:0019222 inborn disorder of methionine cycle and sulfur amino acid metabolism 03-disease-area +MONDO:0019223 inborn disorder of fatty acid oxidation and ketone body metabolism 03-disease-area +MONDO:0019224 inborn disorder of gamma-aminobutyric acid metabolism 02-disease-root +MONDO:0019225 gluconeogenesis disorder 03-disease-area +MONDO:0019226 glucose transport disorder 03-disease-area +MONDO:0019227 inborn disorder of glycerol metabolism 02-disease-root +MONDO:0019228 inborn disorder of histidine metabolism 01-disease-subtype +MONDO:0019229 inborn disorder of ketolysis 02-disease-root +MONDO:0019230 inborn disorder of ornithine or proline metabolism 02-disease-root +MONDO:0019231 inborn disorder of pentose phosphate metabolism 02-disease-root +MONDO:0019232 inborn disorder of peptide metabolism 02-disease-root +MONDO:0019233 disorder of peroxisomal beta oxidation 02-disease-root +MONDO:0019234 peroxisome biogenesis disorder 02-disease-root +MONDO:0019235 inborn disorder of phenylalanin or tyrosine metabolism 02-disease-root +MONDO:0019236 inborn disorder of purine metabolism 02-disease-root +MONDO:0019237 inborn disorder of pyridoxine metabolism 02-disease-root +MONDO:0019238 inborn disorder of pyrimidine metabolism 02-disease-root +MONDO:0019239 inborn disorder of serine family metabolism 02-disease-root +MONDO:0019240 sterol biosynthesis disorder 02-disease-root +MONDO:0019241 inborn disorder of the gamma-glutamyl cycle 02-disease-root +MONDO:0019242 inborn disorder of branched-chain amino acid metabolism 02-disease-root +MONDO:0019243 inborn disorder of energy metabolism 03-disease-area +MONDO:0019245 lysosomal lipid storage disorder 03-disease-area +MONDO:0019246 inborn disorder of lysosomal amino acid transport 02-disease-root +MONDO:0019248 mucolipidosis 02-disease-root +MONDO:0019249 mucopolysaccharidosis 02-disease-root +MONDO:0019250 inborn disorder of biogenic amine metabolism and transport 03-disease-area +MONDO:0019251 oligosaccharidosis 03-disease-area +MONDO:0019253 metabolic disease involving other neurotransmitter deficiency 03-disease-area +MONDO:0019254 inborn disorder of purine or pyrimidine metabolism 03-disease-area +MONDO:0019255 sphingolipidosis 03-disease-area +MONDO:0019256 sterol metabolism disorder 03-disease-area +MONDO:0019257 hemochromatosis type 2 01-disease-subtype +MONDO:0019258 mild phenylketonuria 01-disease-subtype +MONDO:0019259 classic phenylketonuria 01-disease-subtype +MONDO:0019260 adult neuronal ceroid lipofuscinosis 01-disease-subtype +MONDO:0019261 infantile neuronal ceroid lipofuscinosis 01-disease-subtype +MONDO:0019262 juvenile neuronal ceroid lipofuscinosis 01-disease-subtype +MONDO:0019263 autosomal erythropoietic protoporphyria 01-disease-subtype +MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 01-disease-subtype +MONDO:0019265 diazoxide-resistant focal hyperinsulinism 01-disease-subtype +MONDO:0019267 vitamin B12-unresponsive methylmalonic acidemia type mut- 01-disease-subtype +MONDO:0019268 epidermal disease 03-disease-area +MONDO:0019269 ichthyosis 03-disease-area +MONDO:0019270 erythrokeratoderma 03-disease-area +MONDO:0019271 acrokeratoderma 02-disease-root +MONDO:0019272 hereditary palmoplantar keratoderma 03-disease-area +MONDO:0019276 inherited epidermolysis bullosa 03-disease-area +MONDO:0019277 epidermal appendage anomaly 03-disease-area +MONDO:0019278 hair anomaly 03-disease-area +MONDO:0019280 hypertrichosis 02-disease-root +MONDO:0019281 isolated genetic hair shaft abnormality 02-disease-root +MONDO:0019282 syndromic hair shaft abnormality 02-disease-root +MONDO:0019283 nail anomaly 03-disease-area +MONDO:0019284 inherited isolated nail anomaly 02-disease-root +MONDO:0019285 syndromic nail anomaly 01-disease-subtype +MONDO:0019286 sebaceous gland anomaly 03-disease-area +MONDO:0019287 ectodermal dysplasia syndrome 03-disease-area +MONDO:0019288 skin pigmentation disorder 03-disease-area +MONDO:0019289 hyperpigmentation of the skin 03-disease-area +MONDO:0019290 hypopigmentation of the skin 03-disease-area +MONDO:0019292 dermis elastic tissue disorder 03-disease-area +MONDO:0019293 skin vascular disease 03-disease-area +MONDO:0019294 mixed dermis disorder 03-disease-area +MONDO:0019296 subcutaneous tissue disorder 03-disease-area +MONDO:0019297 lymphedema 03-disease-area +MONDO:0019303 premature aging syndrome 03-disease-area +MONDO:0019306 congenital non-bullous ichthyosiform erythroderma 01-disease-subtype +MONDO:0019307 generalized junctional epidermolysis bullosa non-Herlitz type 01-disease-subtype +MONDO:0019308 junctional epidermolysis bullosa inversa 01-disease-subtype +MONDO:0019309 late-onset junctional epidermolysis bullosa 01-disease-subtype +MONDO:0019310 recessive dystrophic epidermolysis bullosa inversa 01-disease-subtype +MONDO:0019311 woolly hair nevus 01-disease-subtype +MONDO:0019312 Hermansky-Pudlak syndrome 02-disease-root +MONDO:0019313 lymphatic malformation 03-disease-area +MONDO:0019317 follicular atrophoderma-basal cell carcinoma 01-disease-subtype +MONDO:0019321 atypical Werner syndrome 02-disease-root +MONDO:0019325 phakomatosis cesioflammea 01-disease-subtype +MONDO:0019326 phakomatosis cesiomarmorata 01-disease-subtype +MONDO:0019327 phakomatosis spilorosea 01-disease-subtype +MONDO:0019330 pili gemini 01-disease-subtype +MONDO:0019332 punctate palmoplantar keratoderma type 1 01-disease-subtype +MONDO:0019333 autosomal recessive hyperinsulinism due to SUR1 deficiency 01-disease-subtype +MONDO:0019334 autosomal recessive hyperinsulinism due to Kir6.2 deficiency 01-disease-subtype +MONDO:0019335 mild hyperphenylalaninemia 01-disease-subtype +MONDO:0019336 Gardner syndrome 01-disease-subtype +MONDO:0019338 sarcoidosis 01-disease-subtype +MONDO:0019339 47,XYY syndrome 01-disease-subtype +MONDO:0019342 Seckel syndrome 02-disease-root +MONDO:0019346 sialidosis type 1 01-disease-subtype +MONDO:0019347 peeling skin syndrome 02-disease-root +MONDO:0019349 Sotos syndrome 02-disease-root +MONDO:0019350 hereditary spherocytosis 02-disease-root +MONDO:0019351 isolated spina bifida 01-disease-subtype +MONDO:0019353 Stargardt disease 01-disease-subtype +MONDO:0019354 Stickler syndrome 02-disease-root +MONDO:0019356 urogenital tract malformation 03-disease-area +MONDO:0019358 encephalopathy due to sulfite oxidase deficiency 02-disease-root +MONDO:0019362 epidemic louse-borne typhus 01-disease-subtype +MONDO:0019366 free sialic acid storage disease 01-disease-subtype +MONDO:0019374 CAMOS syndrome 01-disease-subtype +MONDO:0019375 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome 02-disease-root +MONDO:0019386 progressive rubella panencephalitis 01-disease-subtype +MONDO:0019387 macrostomia-preauricular tags-external ophthalmoplegia syndrome 02-disease-root +MONDO:0019388 pelvis syndrome 02-disease-root +MONDO:0019391 Fanconi anemia 02-disease-root +MONDO:0019394 Senior-Boichis syndrome 02-disease-root +MONDO:0019397 unknown leukodystrophy 02-disease-root +MONDO:0019398 desmin-related myopathy with Mallory body-like inclusions 01-disease-subtype +MONDO:0019401 sporadic idiopathic steroid-resistant nephrotic syndrome 01-disease-subtype +MONDO:0019402 beta thalassemia 02-disease-root +MONDO:0019403 congenital dyserythropoietic anemia 02-disease-root +MONDO:0019404 perineurioma 02-disease-root +MONDO:0019405 facial onset sensory and motor neuronopathy 02-disease-root +MONDO:0019406 craniofacial conodysplasia 01-disease-subtype +MONDO:0019407 microcephalic osteodysplastic dysplasia, Saul-Wilson type 02-disease-root +MONDO:0019408 Astley-Kendall dysplasia 01-disease-subtype +MONDO:0019409 idiopathic juvenile osteoporosis 01-disease-subtype +MONDO:0019411 genochondromatosis type 1 01-disease-subtype +MONDO:0019412 dysspondyloenchondromatosis 02-disease-root +MONDO:0019413 ischio-vertebral syndrome 02-disease-root +MONDO:0019414 BRESEK syndrome 02-disease-root +MONDO:0019416 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome 02-disease-root +MONDO:0019417 X-linked intellectual disability-precocious puberty-obesity syndrome 02-disease-root +MONDO:0019418 X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome 02-disease-root +MONDO:0019419 X-linked intellectual disability-macrocephaly-macroorchidism syndrome 02-disease-root +MONDO:0019420 X-linked intellectual disability, Pai type 02-disease-root +MONDO:0019421 X-linked intellectual disability, Seemanova type 02-disease-root +MONDO:0019422 X-linked intellectual disability, Stevenson type 02-disease-root +MONDO:0019423 X-linked intellectual disability, Stoll type 02-disease-root +MONDO:0019424 X-linked intellectual disability-acromegaly-hyperactivity syndrome 02-disease-root +MONDO:0019426 X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome 02-disease-root +MONDO:0019427 X-linked neurodegenerative syndrome, Bertini type 02-disease-root +MONDO:0019428 fried syndrome 02-disease-root +MONDO:0019429 X-linked neurodegenerative syndrome, Hamel type 02-disease-root +MONDO:0019430 X-linked intellectual disability-ataxia-apraxia syndrome 01-disease-subtype +MONDO:0019438 AL amyloidosis 01-disease-subtype +MONDO:0019439 AA amyloidosis 01-disease-subtype +MONDO:0019441 ATTRV122I amyloidosis 01-disease-subtype +MONDO:0019443 dextro-looped transposition of the great arteries 02-disease-root +MONDO:0019448 benign adult familial myoclonic epilepsy 01-disease-subtype +MONDO:0019449 lissencephaly type 3-familial fetal akinesia sequence syndrome 02-disease-root +MONDO:0019450 lissencephaly with cerebellar hypoplasia 02-disease-root +MONDO:0019452 myeloproliferative neoplasm, unclassifiable 02-disease-root +MONDO:0019453 refractory cytopenia with multilineage dysplasia 01-disease-subtype +MONDO:0019455 acute panmyelosis with myelofibrosis 01-disease-subtype +MONDO:0019457 therapy related acute myeloid leukemia and myelodysplastic syndrome 01-disease-subtype +MONDO:0019460 acute leukemia of ambiguous lineage 01-disease-subtype +MONDO:0019465 nodal marginal zone B-cell lymphoma 01-disease-subtype +MONDO:0019469 T-cell large granular lymphocyte leukemia 01-disease-subtype +MONDO:0019470 aggressive NK-cell leukemia 01-disease-subtype +MONDO:0019471 adult T-cell leukemia/lymphoma 01-disease-subtype +MONDO:0019472 extranodal nasal NK/T cell lymphoma 01-disease-subtype +MONDO:0019473 enteropathy-associated T-cell lymphoma 01-disease-subtype +MONDO:0019474 hepatosplenic T-cell lymphoma 01-disease-subtype +MONDO:0019479 histiocytic sarcoma 01-disease-subtype +MONDO:0019484 hypothalamic hamartomas with gelastic seizures 02-disease-root +MONDO:0019486 myoclonic epilepsy of infancy 01-disease-subtype +MONDO:0019487 epilepsy with myoclonic absences 01-disease-subtype +MONDO:0019488 myoclonic epilepsy in non-progressive encephalopathies 01-disease-subtype +MONDO:0019489 diffuse palmoplantar keratoderma - acrocyanosis syndrome 01-disease-subtype +MONDO:0019490 progressive familial heart block 02-disease-root +MONDO:0019497 nonsyndromic genetic hearing loss 02-disease-root +MONDO:0019499 Turner syndrome 02-disease-root +MONDO:0019500 extragonadal teratoma 01-disease-subtype +MONDO:0019501 Usher syndrome 02-disease-root +MONDO:0019502 autosomal recessive non-syndromic intellectual disability 02-disease-root +MONDO:0019503 anterior segment dysgenesis 02-disease-root +MONDO:0019505 hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome 02-disease-root +MONDO:0019506 obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome 01-disease-subtype +MONDO:0019507 amelogenesis imperfecta 02-disease-root +MONDO:0019508 van der Woude syndrome 02-disease-root +MONDO:0019513 esophageal malformation 03-disease-area +MONDO:0019514 hepatic veno-occlusive disease 02-disease-root +MONDO:0019516 exudative vitreoretinopathy 02-disease-root +MONDO:0019517 Waardenburg syndrome type 2 01-disease-subtype +MONDO:0019518 Waardenburg-Shah syndrome 01-disease-subtype +MONDO:0019520 syndromic lymphedema 02-disease-root +MONDO:0019521 centripetalis recessive dystrophic epidermolysis bullosa 01-disease-subtype +MONDO:0019522 recessive dystrophic epidermolysis bullosa-generalized other 01-disease-subtype +MONDO:0019524 infantile Bartter syndrome with sensorineural deafness 01-disease-subtype +MONDO:0019525 tetrasomy X 01-disease-subtype +MONDO:0019530 non-syndromic syndactyly 02-disease-root +MONDO:0019531 hemolytic anemia due to glutathione reductase deficiency 01-disease-subtype +MONDO:0019537 hemoglobin D disease 01-disease-subtype +MONDO:0019541 non-infectious posterior uveitis 01-disease-subtype +MONDO:0019548 autosomal dominant intermediate Charcot-Marie-Tooth disease 01-disease-subtype +MONDO:0019549 severe early-onset axonal neuropathy due to MFN2 deficiency 01-disease-subtype +MONDO:0019550 hereditary motor and sensory neuropathy with acrodystrophy 01-disease-subtype +MONDO:0019551 hereditary motor and sensory neuropathy type 6 02-disease-root +MONDO:0019557 chilblain lupus 01-disease-subtype +MONDO:0019558 discoid lupus erythematosus 01-disease-subtype +MONDO:0019565 hereditary von Willebrand disease 01-disease-subtype +MONDO:0019567 Ehlers-Danlos syndrome, classic type, 1 01-disease-subtype +MONDO:0019568 Ehlers-Danlos syndrome, classic type, 2 01-disease-subtype +MONDO:0019569 Cockayne syndrome type 1 01-disease-subtype +MONDO:0019570 Cockayne syndrome type 2 01-disease-subtype +MONDO:0019571 autosomal dominant cutis laxa 02-disease-root +MONDO:0019572 autosomal recessive cutis laxa type 1 02-disease-root +MONDO:0019573 autosomal recessive cutis laxa type 2 01-disease-subtype +MONDO:0019575 hypotrichosis simplex of the scalp 02-disease-root +MONDO:0019577 anonychia-onychodystrophy syndrome 01-disease-subtype +MONDO:0019586 X-linked nonsyndromic hearing loss 01-disease-subtype +MONDO:0019587 autosomal dominant nonsyndromic hearing loss 02-disease-root +MONDO:0019588 hearing loss, autosomal recessive 02-disease-root +MONDO:0019589 syndromic genetic hearing loss 03-disease-area +MONDO:0019591 panhypopituitarism 01-disease-subtype +MONDO:0019593 46,XX disorder of sex development induced by fetal androgens excess 03-disease-area +MONDO:0019597 46,XY disorder of sex development due to isolated 17,20-lyase deficiency 01-disease-subtype +MONDO:0019599 primary lipodystrophy 03-disease-area +MONDO:0019600 xeroderma pigmentosum 02-disease-root +MONDO:0019601 autosomal recessive axonal hereditary motor and sensory neuropathy 02-disease-root +MONDO:0019603 osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome 02-disease-root +MONDO:0019609 Zellweger spectrum disorders 01-disease-subtype +MONDO:0019611 TSH-secreting pituitary adenoma 01-disease-subtype +MONDO:0019619 duplication of the esophagus 01-disease-subtype +MONDO:0019620 congenital esophageal diverticulum 01-disease-subtype +MONDO:0019623 hereditary angioedema 02-disease-root +MONDO:0019624 acquired angioedema 01-disease-subtype +MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection 02-disease-root +MONDO:0019626 isolated ankyloblepharon filiforme adnatum 02-disease-root +MONDO:0019627 isolated congenital alacrima 02-disease-root +MONDO:0019628 Rieger anomaly 02-disease-root +MONDO:0019629 sclerocornea 01-disease-subtype +MONDO:0019630 congenital ectropion uveae 02-disease-root +MONDO:0019631 persistent hyperplastic primary vitreous 02-disease-root +MONDO:0019636 renal agenesis, unilateral 01-disease-subtype +MONDO:0019637 renal hypoplasia 02-disease-root +MONDO:0019638 renal dysplasia 02-disease-root +MONDO:0019640 posterior urethral valve 01-disease-subtype +MONDO:0019642 vitamin D-dependent rickets, type 2 01-disease-subtype +MONDO:0019644 renal dysplasia, unilateral 01-disease-subtype +MONDO:0019645 renal dysplasia, bilateral 01-disease-subtype +MONDO:0019648 achondrogenesis 02-disease-root +MONDO:0019652 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation 01-disease-subtype +MONDO:0019653 familial idiopathic steroid-resistant nephrotic syndrome with minimal changes 01-disease-subtype +MONDO:0019654 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis 01-disease-subtype +MONDO:0019655 sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis 01-disease-subtype +MONDO:0019656 sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis 01-disease-subtype +MONDO:0019659 Pfeiffer syndrome type 1 01-disease-subtype +MONDO:0019660 Pfeiffer syndrome type 2 01-disease-subtype +MONDO:0019661 Pfeiffer syndrome type 3 01-disease-subtype +MONDO:0019662 short rib-polydactyly syndrome, Majewski type 01-disease-subtype +MONDO:0019665 monostotic fibrous dysplasia 01-disease-subtype +MONDO:0019666 spondyloepimetaphyseal dysplasia, PAPSS2 type 01-disease-subtype +MONDO:0019667 spondyloepiphyseal dysplasia tarda 01-disease-subtype +MONDO:0019669 hypochondrogenesis 01-disease-subtype +MONDO:0019670 ulnar hemimelia 01-disease-subtype +MONDO:0019671 radial hemimelia 01-disease-subtype +MONDO:0019672 fibular hemimelia 01-disease-subtype +MONDO:0019673 postaxial polydactyly type A 01-disease-subtype +MONDO:0019674 postaxial polydactyly type B 01-disease-subtype +MONDO:0019675 spondyloepimetaphyseal dysplasia with joint laxity 02-disease-root +MONDO:0019676 brachydactyly type B 01-disease-subtype +MONDO:0019677 brachydactyly type E 01-disease-subtype +MONDO:0019678 brachydactyly type A5 01-disease-subtype +MONDO:0019679 brachydactyly type A7 01-disease-subtype +MONDO:0019680 genochondromatosis type 2 01-disease-subtype +MONDO:0019681 juvenile sialidosis type 2 01-disease-subtype +MONDO:0019682 congenital sialidosis type 2 01-disease-subtype +MONDO:0019685 FGFR3-related chondrodysplasia 03-disease-area +MONDO:0019688 sulfation-related bone disorder 03-disease-area +MONDO:0019689 perlecan-related bone disorder 03-disease-area +MONDO:0019690 filamin-related bone disorder 03-disease-area +MONDO:0019691 short rib dysplasia 03-disease-area +MONDO:0019692 multiple epiphyseal dysplasia and pseudoachondroplasia 02-disease-root +MONDO:0019693 multiple metaphyseal dysplasia 02-disease-root +MONDO:0019694 spondylodysplastic dysplasia 03-disease-area +MONDO:0019695 acromelic dysplasia 02-disease-root +MONDO:0019696 acromesomelic dysplasia 02-disease-root +MONDO:0019697 mesomelic and rhizo-mesomelic dysplasia 03-disease-area +MONDO:0019698 bent bone dysplasia 02-disease-root +MONDO:0019699 slender bone dysplasia 03-disease-area +MONDO:0019701 chondrodysplasia punctata 02-disease-root +MONDO:0019702 neonatal osteosclerotic dysplasia 03-disease-area +MONDO:0019707 primary osteolysis 03-disease-area +MONDO:0019712 patellar dysostosis 02-disease-root +MONDO:0019713 non-syndromic limb reduction defect 03-disease-area +MONDO:0019714 non-syndromic polydactyly, syndactyly and/or hyperphalangy 03-disease-area +MONDO:0019716 overgrowth syndrome 01-disease-subtype +MONDO:0019718 lethal chondrodysplasia 03-disease-area +MONDO:0019719 congenital anomaly of kidney and urinary tract 02-disease-root +MONDO:0019720 non-syndromic renal or urinary tract malformation 03-disease-area +MONDO:0019721 syndromic renal or urinary tract malformation 03-disease-area +MONDO:0019723 disease of glomerular basement membrane 02-disease-root +MONDO:0019724 secondary glomerular disease 03-disease-area +MONDO:0019731 AApoAI amyloidosis 01-disease-subtype +MONDO:0019732 ALys amyloidosis 01-disease-subtype +MONDO:0019733 AFib amyloidosis 01-disease-subtype +MONDO:0019736 dense deposit disease 01-disease-subtype +MONDO:0019737 thrombotic microangiopathy 03-disease-area +MONDO:0019738 atypical hemolytic-uremic syndrome with H factor anomaly 01-disease-subtype +MONDO:0019739 atypical hemolytic-uremic syndrome with anti-factor H antibodies 01-disease-subtype +MONDO:0019740 acquired thrombotic thrombocytopenic purpura 01-disease-subtype +MONDO:0019741 familial cystic renal disease 03-disease-area +MONDO:0019742 late-onset nephronophthisis 01-disease-subtype +MONDO:0019743 nephropathy secondary to a storage or other metabolic disease 03-disease-area +MONDO:0019745 cystinuria type A 01-disease-subtype +MONDO:0019746 cystinuria type B 01-disease-subtype +MONDO:0019751 autoinflammatory syndrome 03-disease-area +MONDO:0019755 developmental defect during embryogenesis 03-disease-area +MONDO:0019756 lobar holoprosencephaly 01-disease-subtype +MONDO:0019757 alobar holoprosencephaly 01-disease-subtype +MONDO:0019758 midline interhemispheric variant of holoprosencephaly 01-disease-subtype +MONDO:0019759 epispadias 01-disease-subtype +MONDO:0019760 terminal transverse defects of arm 01-disease-subtype +MONDO:0019766 X-linked intellectual disability, Porteous type 01-disease-subtype +MONDO:0019767 hamel cerebro-palato-cardiac syndrome 01-disease-subtype +MONDO:0019768 X-linked intellectual disability, Golabi-Ito-hall type 01-disease-subtype +MONDO:0019769 X-linked intellectual disability, Sutherland-Haan type 01-disease-subtype +MONDO:0019770 X-linked dominant intellectual disability-epilepsy syndrome 01-disease-subtype +MONDO:0019771 oromandibular dystonia 01-disease-subtype +MONDO:0019772 blepharospasm-oromandibular dystonia syndrome 01-disease-subtype +MONDO:0019773 myelomeningocele 01-disease-subtype +MONDO:0019775 Chudley-Lowry-Hoar syndrome 01-disease-subtype +MONDO:0019776 Juberg-Marsidi syndrome 01-disease-subtype +MONDO:0019777 Carpenter-Waziri syndrome 01-disease-subtype +MONDO:0019778 Smith-Fineman-Myers syndrome 01-disease-subtype +MONDO:0019779 Renier-Gabreels-Jasper syndrome 01-disease-subtype +MONDO:0019780 anotia 02-disease-root +MONDO:0019781 astrocytoma (excluding glioblastoma) 02-disease-root +MONDO:0019782 humero-ulnar synostosis 02-disease-root +MONDO:0019784 12q14 microdeletion syndrome 01-disease-subtype +MONDO:0019786 severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia 02-disease-root +MONDO:0019787 autoimmune enteropathy 02-disease-root +MONDO:0019791 recessive mitochondrial ataxia syndrome 01-disease-subtype +MONDO:0019792 autosomal dominant cerebellar ataxia type I 01-disease-subtype +MONDO:0019793 autosomal dominant cerebellar ataxia type III 01-disease-subtype +MONDO:0019794 autosomal dominant cerebellar ataxia type IV 01-disease-subtype +MONDO:0019796 acrocephalosyndactyly 02-disease-root +MONDO:0019797 acrodysostosis 02-disease-root +MONDO:0019799 hepatoerythropoietic porphyria 01-disease-subtype +MONDO:0019800 chronic hepatic porphyria 02-disease-root +MONDO:0019801 acute adrenal insufficiency 02-disease-root +MONDO:0019803 angioma serpiginosum 01-disease-subtype +MONDO:0019804 tracheomalacia 01-disease-subtype +MONDO:0019817 congenital mitral valve insufficiency and/or stenosis 01-disease-subtype +MONDO:0019820 univentricular cardiopathy 02-disease-root +MONDO:0019821 aneurysm or dilatation of ascending aorta 01-disease-subtype +MONDO:0019822 arterial duct anomaly 02-disease-root +MONDO:0019824 non-acquired pituitary hormone deficiency 03-disease-area +MONDO:0019828 pituitary stalk interruption syndrome 02-disease-root +MONDO:0019832 acquired pituitary hormone deficiency 02-disease-root +MONDO:0019833 pituitary hormone deficiency from tumoral origin 01-disease-subtype +MONDO:0019834 pituitary hormone deficiency from meningeal origin 01-disease-subtype +MONDO:0019840 acropectororenal dysplasia 01-disease-subtype +MONDO:0019843 pituitary hormone deficiency secondary to a granulomatous disease 01-disease-subtype +MONDO:0019844 pituitary hormone deficiency secondary to storage disease 02-disease-root +MONDO:0019846 acquired central diabetes insipidus 02-disease-root +MONDO:0019851 acquired primary ovarian failure 01-disease-subtype +MONDO:0019852 inherited primary ovarian failure 03-disease-area +MONDO:0019854 thyroid ectopia 01-disease-subtype +MONDO:0019855 athyreosis 01-disease-subtype +MONDO:0019860 thyroid hemiagenesis 01-disease-subtype +MONDO:0019861 thyroid hypoplasia 01-disease-subtype +MONDO:0019864 tetrasomy 21 01-disease-subtype +MONDO:0019865 mosaic trisomy 4 01-disease-subtype +MONDO:0019866 mosaic trisomy 5 01-disease-subtype +MONDO:0019867 mosaic trisomy 8 01-disease-subtype +MONDO:0019868 mosaic trisomy 10 01-disease-subtype +MONDO:0019869 mosaic trisomy 22 01-disease-subtype +MONDO:0019870 distal trisomy 1p36 01-disease-subtype +MONDO:0019871 distal trisomy 2p 01-disease-subtype +MONDO:0019872 distal trisomy 3p 01-disease-subtype +MONDO:0019873 4p16.3 microduplication syndrome 01-disease-subtype +MONDO:0019874 distal trisomy 7p 01-disease-subtype +MONDO:0019875 Beckwith-Wiedemann syndrome due to 11p15 microduplication 01-disease-subtype +MONDO:0019876 8p inverted duplication/deletion syndrome 01-disease-subtype +MONDO:0019877 distal trisomy 2q 01-disease-subtype +MONDO:0019878 3q26 microduplication syndrome 01-disease-subtype +MONDO:0019879 distal trisomy 4q 01-disease-subtype +MONDO:0019880 distal trisomy 5q 01-disease-subtype +MONDO:0019881 distal trisomy 6q 01-disease-subtype +MONDO:0019882 distal trisomy 8q 01-disease-subtype +MONDO:0019883 distal trisomy 9q 01-disease-subtype +MONDO:0019884 distal trisomy 10q 01-disease-subtype +MONDO:0019885 distal trisomy 11q 01-disease-subtype +MONDO:0019886 distal trisomy 13q 01-disease-subtype +MONDO:0019887 distal trisomy 16q 01-disease-subtype +MONDO:0019888 distal trisomy 20q 01-disease-subtype +MONDO:0019889 distal trisomy 22q 01-disease-subtype +MONDO:0019890 non-distal trisomy 9q 01-disease-subtype +MONDO:0019891 monosomy 22 01-disease-subtype +MONDO:0019892 distal monosomy 7p 01-disease-subtype +MONDO:0019893 distal monosomy 19p13.3 01-disease-subtype +MONDO:0019895 distal monosomy 4q 01-disease-subtype +MONDO:0019896 Kleefstra syndrome due to 9q34 microdeletion 01-disease-subtype +MONDO:0019897 distal monosomy 12q 01-disease-subtype +MONDO:0019898 distal monosomy 14q 01-disease-subtype +MONDO:0019899 distal monosomy 20q 01-disease-subtype +MONDO:0019900 non-distal monosomy 12q 01-disease-subtype +MONDO:0019901 non-distal monosomy 20q 01-disease-subtype +MONDO:0019902 monosomy 13q34 01-disease-subtype +MONDO:0019903 ring chromosome 2 02-disease-root +MONDO:0019904 ring chromosome 3 01-disease-subtype +MONDO:0019905 ring chromosome 9 01-disease-subtype +MONDO:0019906 ring chromosome 11 01-disease-subtype +MONDO:0019907 ring chromosome 13 01-disease-subtype +MONDO:0019908 ring chromosome 15 01-disease-subtype +MONDO:0019909 ring chromosome 16 02-disease-root +MONDO:0019910 maternal uniparental disomy of chromosome 2 02-disease-root +MONDO:0019911 maternal uniparental disomy of chromosome 4 01-disease-subtype +MONDO:0019912 maternal uniparental disomy of chromosome 6 01-disease-subtype +MONDO:0019913 silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 01-disease-subtype +MONDO:0019914 maternal uniparental disomy of chromosome 9 01-disease-subtype +MONDO:0019915 maternal uniparental disomy of chromosome 14 01-disease-subtype +MONDO:0019916 maternal uniparental disomy of chromosome 16 02-disease-root +MONDO:0019917 maternal uniparental disomy of chromosome 20 01-disease-subtype +MONDO:0019918 maternal uniparental disomy of chromosome 21 01-disease-subtype +MONDO:0019919 maternal uniparental disomy of chromosome 22 01-disease-subtype +MONDO:0019920 paternal uniparental disomy of chromosome 5 01-disease-subtype +MONDO:0019921 paternal uniparental disomy of chromosome 6 01-disease-subtype +MONDO:0019922 paternal uniparental disomy of chromosome 7 01-disease-subtype +MONDO:0019923 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 01-disease-subtype +MONDO:0019924 paternal uniparental disomy of chromosome 20 01-disease-subtype +MONDO:0019925 paternal uniparental disomy of chromosome 21 01-disease-subtype +MONDO:0019926 X small rings 02-disease-root +MONDO:0019927 growth hormone-producing pituitary gland neoplasm 03-disease-area +MONDO:0019928 48,XXXY syndrome 01-disease-subtype +MONDO:0019929 49,XXXXY syndrome 01-disease-subtype +MONDO:0019930 Leydig cell hypoplasia due to complete LH resistance 01-disease-subtype +MONDO:0019931 Leydig cell hypoplasia due to partial LH resistance 01-disease-subtype +MONDO:0019934 polyploidy 02-disease-root +MONDO:0019935 isochromosome Y 01-disease-subtype +MONDO:0019938 anorectal malformation 03-disease-area +MONDO:0019940 hypertrichosis-acromegaloid facial appearance syndrome 01-disease-subtype +MONDO:0019941 hereditary sensory and autonomic neuropathy type 2 01-disease-subtype +MONDO:0019942 distal arthrogryposis 02-disease-root +MONDO:0019943 hereditary continuous muscle fiber activity 02-disease-root +MONDO:0019946 ligneous conjunctivitis 01-disease-subtype +MONDO:0019947 rippling muscle disease 2 01-disease-subtype +MONDO:0019948 reducing body myopathy 01-disease-subtype +MONDO:0019949 zebra body myopathy 01-disease-subtype +MONDO:0019950 congenital muscular dystrophy 03-disease-area +MONDO:0019951 rigid spine syndrome 01-disease-subtype +MONDO:0019952 congenital myopathy 02-disease-root +MONDO:0019956 encephalitis 03-disease-area +MONDO:0019962 thyroid lymphoma 01-disease-subtype +MONDO:0019964 thymic neuroendocrine tumor 02-disease-root +MONDO:0019978 Robinow syndrome 02-disease-root +MONDO:0019979 renal hypoplasia, unilateral 01-disease-subtype +MONDO:0019980 renal hypoplasia, bilateral 01-disease-subtype +MONDO:0019981 unilateral multicystic dysplastic kidney 01-disease-subtype +MONDO:0019982 bilateral multicystic dysplastic kidney 01-disease-subtype +MONDO:0019986 sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy 01-disease-subtype +MONDO:0019992 pseudohypoparathyroidism 02-disease-root +MONDO:0019994 maternal uniparental disomy of chromosome 13 01-disease-subtype +MONDO:0019995 peripheral resistance to thyroid hormones 01-disease-subtype +MONDO:0019998 gastroduodenal malformation 02-disease-root +MONDO:0019999 intestinal malformation 02-disease-root +MONDO:0020001 respiratory or thoracic malformation 03-disease-area +MONDO:0020010 infectious disorder of the nervous system 03-disease-area +MONDO:0020018 cranial malformation 03-disease-area +MONDO:0020019 digestive tract malformation 03-disease-area +MONDO:0020020 visceral malformation of the liver, biliary tract, pancreas or spleen 03-disease-area +MONDO:0020021 diaphragmatic or abdominal wall malformation 03-disease-area +MONDO:0020022 central nervous system malformation 03-disease-area +MONDO:0020023 respiratory or mediastinal malformation 03-disease-area +MONDO:0020039 46,XX disorder of sex development induced by androgens excess 02-disease-root +MONDO:0020040 46,XY disorder of sex development 02-disease-root +MONDO:0020043 autosomal recessive congenital cerebellar ataxia 01-disease-subtype +MONDO:0020044 autosomal recessive metabolic cerebellar ataxia 01-disease-subtype +MONDO:0020046 autosomal recessive degenerative and progressive cerebellar ataxia 01-disease-subtype +MONDO:0020047 autosomal recessive syndromic cerebellar ataxia 01-disease-subtype +MONDO:0020049 autosomal anomaly 03-disease-area +MONDO:0020058 gonosome anomaly 03-disease-area +MONDO:0020065 combined dystonia 03-disease-area +MONDO:0020066 Ehlers-Danlos syndrome 02-disease-root +MONDO:0020067 infectious encephalitis 03-disease-area +MONDO:0020068 postinfectious encephalitis 03-disease-area +MONDO:0020069 chronic encephalitis 02-disease-root +MONDO:0020070 neonatal epilepsy syndrome 01-disease-subtype +MONDO:0020071 infantile epilepsy syndrome 01-disease-subtype +MONDO:0020072 childhood-onset epilepsy syndrome 01-disease-subtype +MONDO:0020073 adolescent-onset epilepsy syndrome 01-disease-subtype +MONDO:0020074 progressive myoclonus epilepsy 02-disease-root +MONDO:0020075 genetic non-syndromic obesity 01-disease-subtype +MONDO:0020077 myelodysplastic/myeloproliferative disease 02-disease-root +MONDO:0020081 macrophage or histiocytic tumor 02-disease-root +MONDO:0020082 dendritic cell tumor 02-disease-root +MONDO:0020083 immunodeficiency-associated lymphoproliferative disease 02-disease-root +MONDO:0020087 genetic lipodystrophy 02-disease-root +MONDO:0020088 familial partial lipodystrophy 02-disease-root +MONDO:0020089 acquired lipodystrophy 02-disease-root +MONDO:0020093 autosomal dominant isolated diffuse palmoplantar keratoderma 01-disease-subtype +MONDO:0020096 autosomal recessive isolated diffuse palmoplantar keratoderma 01-disease-subtype +MONDO:0020099 inherited sideroblastic anemia 02-disease-root +MONDO:0020102 hereditary stomatocytosis 01-disease-subtype +MONDO:0020112 vitamin B12- and folate-independent constitutional megaloblastic anemia 01-disease-subtype +MONDO:0020115 secondary polycythemia 02-disease-root +MONDO:0020117 alpha granule disease 02-disease-root +MONDO:0020118 dense granule disease 03-disease-area +MONDO:0020119 X-linked syndromic intellectual disability 03-disease-area +MONDO:0020120 skeletal muscle disorder 03-disease-area +MONDO:0020121 muscular dystrophy 03-disease-area +MONDO:0020122 acquired idiopathic inflammatory myopathy 02-disease-root +MONDO:0020123 metabolic myopathy 03-disease-area +MONDO:0020124 neuromuscular junction disease 03-disease-area +MONDO:0020125 acquired neuromuscular junction disease 03-disease-area +MONDO:0020127 genetic peripheral neuropathy 03-disease-area +MONDO:0020129 acquired motor neuron disease 02-disease-root +MONDO:0020130 malformation of the cerebellar vermis 02-disease-root +MONDO:0020132 cranial nerve and nuclear aplasia 03-disease-area +MONDO:0020133 posterior fossa malformation 03-disease-area +MONDO:0020134 cystic malformation of the posterior fossa 02-disease-root +MONDO:0020135 pontocerebellar hypoplasia 02-disease-root +MONDO:0020143 cerebral lipidosis with dementia 03-disease-area +MONDO:0020144 cerebrovascular dementia 02-disease-root +MONDO:0020145 developmental defect of the eye 03-disease-area +MONDO:0020146 major induction processes eye anomaly 03-disease-area +MONDO:0020147 anophthalmia-microphthalmia syndrome 03-disease-area +MONDO:0020148 syndromic aniridia 01-disease-subtype +MONDO:0020153 cryptophthalmia 02-disease-root +MONDO:0020154 microblepharon-ablephara syndrome 03-disease-area +MONDO:0020155 eyelid border anomaly 03-disease-area +MONDO:0020156 syndromic ankyloblepharon 03-disease-area +MONDO:0020157 syndromic palpebral coloboma 03-disease-area +MONDO:0020158 eyelids malposition disorder 03-disease-area +MONDO:0020159 congenital entropion 03-disease-area +MONDO:0020160 secondary entropion 02-disease-root +MONDO:0020161 congenital ectropion 03-disease-area +MONDO:0020162 secondary ectropion 03-disease-area +MONDO:0020163 canthal anomaly 03-disease-area +MONDO:0020164 epicanthal fold 03-disease-area +MONDO:0020165 syndromic epicanthus 03-disease-area +MONDO:0020167 malposition of external canthus 02-disease-root +MONDO:0020172 palpebral epidermal tumor 02-disease-root +MONDO:0020173 benign tumor of palpebral epidermis 01-disease-subtype +MONDO:0020174 precancerous lesion of palpebral epidermis 01-disease-subtype +MONDO:0020175 malignant tumor of palpebral epidermis 01-disease-subtype +MONDO:0020176 palpebral sebaceous gland tumor 02-disease-root +MONDO:0020177 pigmented palpebral tumor 02-disease-root +MONDO:0020178 palpebral lentiginosis 01-disease-subtype +MONDO:0020179 palpebral nevus 01-disease-subtype +MONDO:0020180 palpebral piliary tumor 02-disease-root +MONDO:0020181 mesenchymatous palpebral tumor 02-disease-root +MONDO:0020183 neurogenic palpebral tumor 02-disease-root +MONDO:0020193 secretory apparatus of the lacrimal system anomaly 02-disease-root +MONDO:0020194 congenital alacrima 03-disease-area +MONDO:0020195 excretory apparatus of the lacrimal system anomaly 02-disease-root +MONDO:0020196 anomaly of the secretory and excretory apparatus of the lacrimal system 02-disease-root +MONDO:0020197 EEC syndrome and related syndrome 01-disease-subtype +MONDO:0020203 pigmented conjunctival lesion 01-disease-subtype +MONDO:0020204 conjunctival tumor 03-disease-area +MONDO:0020205 bulbar conjunctival dermoid or conjunctival dermolipoma 02-disease-root +MONDO:0020208 syndromic myopia 03-disease-area +MONDO:0020210 syndromic hyperopia 01-disease-subtype +MONDO:0020211 syndromic keratoconus 01-disease-subtype +MONDO:0020212 superficial corneal dystrophy 02-disease-root +MONDO:0020213 stromal corneal dystrophy 02-disease-root +MONDO:0020214 posterior corneal dystrophy 02-disease-root +MONDO:0020215 syndromic corneal dystrophy 02-disease-root +MONDO:0020216 secondary dysgenetic glaucoma 01-disease-subtype +MONDO:0020219 corneogoniodysgenesis 02-disease-root +MONDO:0020225 syndromic cataract 01-disease-subtype +MONDO:0020235 lens size anomaly 02-disease-root +MONDO:0020236 lens position anomaly 03-disease-area +MONDO:0020237 lens shape anomaly 03-disease-area +MONDO:0020238 inherited vitreous-retinal disease 03-disease-area +MONDO:0020240 syndromic retinitis pigmentosa 03-disease-area +MONDO:0020242 genetic macular dystrophy 03-disease-area +MONDO:0020245 disease predisposing to age-related macular degeneration 02-disease-root +MONDO:0020246 inherited vitreoretinopathy 03-disease-area +MONDO:0020247 congenital vitreoretinal dysplasia 03-disease-area +MONDO:0020248 vitreoretinal degeneration 03-disease-area +MONDO:0020249 hereditary optic neuropathy 03-disease-area +MONDO:0020250 autosomal dominant optic atrophy 01-disease-subtype +MONDO:0020252 essential strabismus 02-disease-root +MONDO:0020256 congenital trochlear nerve palsy 01-disease-subtype +MONDO:0020257 supranuclear oculomotor palsy 02-disease-root +MONDO:0020275 oculocutaneous or ocular albinism 03-disease-area +MONDO:0020284 heart position anomaly 02-disease-root +MONDO:0020285 transposition of the great arteries and conotruncal cardiac anomaly 03-disease-area +MONDO:0020286 aortic malformation 02-disease-root +MONDO:0020288 atrioventricular valve anomaly 03-disease-area +MONDO:0020289 congenital tricuspid malformation 01-disease-subtype +MONDO:0020290 atrioventricular septal defect 02-disease-root +MONDO:0020292 congenital anomaly of the great arteries 03-disease-area +MONDO:0020293 ascending aorta anomaly 02-disease-root +MONDO:0020294 atrial defect and interatrial communication 03-disease-area +MONDO:0020295 congenital pulmonary veins anomaly 01-disease-subtype +MONDO:0020297 Noonan syndrome and Noonan-related syndrome 02-disease-root +MONDO:0020298 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 01-disease-subtype +MONDO:0020300 autosomal dominant nocturnal frontal lobe epilepsy 01-disease-subtype +MONDO:0020301 Prader-Willi syndrome due to paternal 15q11q13 deletion 01-disease-subtype +MONDO:0020302 Angelman syndrome due to maternal 15q11q13 deletion 01-disease-subtype +MONDO:0020303 Angelman syndrome due to paternal uniparental disomy of chromosome 15 01-disease-subtype +MONDO:0020304 isochromosomy Yp 01-disease-subtype +MONDO:0020305 isochromosomy Yq 01-disease-subtype +MONDO:0020306 absent tibia-polydactyly syndrome 01-disease-subtype +MONDO:0020307 benign childhood occipital epilepsy, Panayiotopoulos type 01-disease-subtype +MONDO:0020308 benign childhood occipital epilepsy, Gastaut type 01-disease-subtype +MONDO:0020310 familial focal epilepsy with variable foci 02-disease-root +MONDO:0020336 autosomal dominant Emery-Dreifuss muscular dystrophy 01-disease-subtype +MONDO:0020337 congenital dyserythropoietic anemia type 1 01-disease-subtype +MONDO:0020339 X-linked complex spastic paraplegia 02-disease-root +MONDO:0020340 bilateral perisylvian polymicrogyria 01-disease-subtype +MONDO:0020341 periventricular nodular heterotopia 02-disease-root +MONDO:0020342 congenital myopathy with excess of thin filaments 01-disease-subtype +MONDO:0020343 alpha-crystallinopathy 01-disease-subtype +MONDO:0020344 postsynaptic congenital myasthenic syndrome 01-disease-subtype +MONDO:0020345 presynaptic congenital myasthenic syndrome 01-disease-subtype +MONDO:0020346 synaptic congenital myasthenic syndrome 01-disease-subtype +MONDO:0020353 von Hippel anomaly 01-disease-subtype +MONDO:0020354 coloboma of choroid and retina 01-disease-subtype +MONDO:0020355 coloboma of eye lens 02-disease-root +MONDO:0020356 coloboma of iris 01-disease-subtype +MONDO:0020357 coloboma of eyelid 02-disease-root +MONDO:0020359 congenital symblepharon 01-disease-subtype +MONDO:0020360 complete cryptophthalmia 01-disease-subtype +MONDO:0020361 partial cryptophthalmia 01-disease-subtype +MONDO:0020362 inverse Marcus-Gunn phenomenon 01-disease-subtype +MONDO:0020363 honey-droplet corneal dystrophy 01-disease-subtype +MONDO:0020364 posterior polymorphous corneal dystrophy 02-disease-root +MONDO:0020365 congenital hereditary endothelial dystrophy type I 01-disease-subtype +MONDO:0020366 congenital glaucoma 01-disease-subtype +MONDO:0020367 juvenile open angle glaucoma 01-disease-subtype +MONDO:0020368 Axenfeld anomaly 02-disease-root +MONDO:0020369 Chandler syndrome 01-disease-subtype +MONDO:0020370 Cogan-Reese syndrome 01-disease-subtype +MONDO:0020371 essential iris atrophy 01-disease-subtype +MONDO:0020372 early-onset sutural cataract 01-disease-subtype +MONDO:0020373 early-onset anterior polar cataract 01-disease-subtype +MONDO:0020374 cerulean cataract 01-disease-subtype +MONDO:0020375 coralliform cataract 01-disease-subtype +MONDO:0020376 early-onset nuclear cataract 01-disease-subtype +MONDO:0020377 early-onset partial cataract 01-disease-subtype +MONDO:0020378 early-onset posterior polar cataract 01-disease-subtype +MONDO:0020379 early-onset zonular cataract 01-disease-subtype +MONDO:0020380 autosomal dominant cerebellar ataxia 02-disease-root +MONDO:0020381 patterned macular dystrophy 02-disease-root +MONDO:0020382 multifocal pattern dystrophy simulating fundus flavimaculatus 01-disease-subtype +MONDO:0020383 fundus pulverulentus 01-disease-subtype +MONDO:0020384 Niemann-Pick disease type E 01-disease-subtype +MONDO:0020385 congenitally uncorrected transposition of the great arteries with coarctation 01-disease-subtype +MONDO:0020386 double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis 01-disease-subtype +MONDO:0020387 double outlet right ventricle with subpulmonary ventricular septal defect 01-disease-subtype +MONDO:0020388 double outlet right ventricle with non-committed subpulmonary ventricular septal defect 01-disease-subtype +MONDO:0020398 congenital mitral stenosis 01-disease-subtype +MONDO:0020404 shone complex 01-disease-subtype +MONDO:0020427 Laubry-Pezzi syndrome 01-disease-subtype +MONDO:0020428 congenital Gerbode defect 02-disease-root +MONDO:0020434 atrial septal defect, ostium secundum type 01-disease-subtype +MONDO:0020435 atrial septal defect, coronary sinus type 01-disease-subtype +MONDO:0020436 atrial septal defect, sinus venosus type 01-disease-subtype +MONDO:0020437 atrial septal defect, ostium primum type 01-disease-subtype +MONDO:0020457 6-phosphogluconate dehydrogenase deficiency 01-disease-subtype +MONDO:0020458 hemolytic anemia due to erythrocyte adenosine deaminase overproduction 01-disease-subtype +MONDO:0020460 acquired von willebrand syndrome 01-disease-subtype +MONDO:0020461 epiblepharon 02-disease-root +MONDO:0020462 tarsal kink syndrome 02-disease-root +MONDO:0020463 isolated congenital ectropion 02-disease-root +MONDO:0020464 euryblepharon 02-disease-root +MONDO:0020465 congenital eyelid retraction 02-disease-root +MONDO:0020466 monosomy X 01-disease-subtype +MONDO:0020467 mosaic monosomy X 01-disease-subtype +MONDO:0020468 paternal uniparental disomy of chromosome 13 01-disease-subtype +MONDO:0020469 48,XYYY syndrome 01-disease-subtype +MONDO:0020470 49,XYYYY syndrome 01-disease-subtype +MONDO:0020472 Turner syndrome due to structural X chromosome anomalies 01-disease-subtype +MONDO:0020473 dappled diaphyseal dysplasia 01-disease-subtype +MONDO:0020474 cheirospondyloenchondromatosis 02-disease-root +MONDO:0020475 dermotrichic syndrome 02-disease-root +MONDO:0020476 mesial temporal lobe epilepsy with hippocampal sclerosis 01-disease-subtype +MONDO:0020477 progeria-associated arthropathy 02-disease-root +MONDO:0020478 Leber plus disease 02-disease-root +MONDO:0020480 sulfite oxidase deficiency due to molybdenum cofactor deficiency 02-disease-root +MONDO:0020481 myotonia fluctuans 01-disease-subtype +MONDO:0020482 myotonia permanens 01-disease-subtype +MONDO:0020483 acetazolamide-responsive myotonia 01-disease-subtype +MONDO:0020485 King-Denborough syndrome 01-disease-subtype +MONDO:0020488 atypical progressive supranuclear palsy syndrome 01-disease-subtype +MONDO:0020489 familial hyperreninemic hypoaldosteronism type 1 01-disease-subtype +MONDO:0020490 mosaic trisomy 9 01-disease-subtype +MONDO:0020491 subcortical band heterotopia 02-disease-root +MONDO:0020492 hemimegalencephaly 02-disease-root +MONDO:0020493 Haddad syndrome 02-disease-root +MONDO:0020494 oculootodental syndrome 01-disease-subtype +MONDO:0020495 peho-like syndrome 02-disease-root +MONDO:0020496 familial porencephaly 02-disease-root +MONDO:0020497 Turcot syndrome with polyposis 01-disease-subtype +MONDO:0020503 resistance to thyrotropin-releasing hormone syndrome 01-disease-subtype +MONDO:0020504 genetic recurrent myoglobinuria 02-disease-root +MONDO:0020505 ravine syndrome 02-disease-root +MONDO:0020506 ovarioleukodystrophy 01-disease-subtype +MONDO:0020507 Cree leukoencephalopathy 01-disease-subtype +MONDO:0020508 primary syringomyelia 01-disease-subtype +MONDO:0020510 idiopathic syringomyelia 01-disease-subtype +MONDO:0020511 precursor B-cell acute lymphoblastic leukemia 01-disease-subtype +MONDO:0020513 spermatocytic seminoma 01-disease-subtype +MONDO:0020516 thymic neuroendocrine carcinoma 01-disease-subtype +MONDO:0020521 Ehlers-Danlos syndrome type 7A 01-disease-subtype +MONDO:0020522 Ehlers-Danlos syndrome type 7B 01-disease-subtype +MONDO:0020523 familial parathyroid adenoma 01-disease-subtype +MONDO:0020524 primary parathyroid hyperplasia 01-disease-subtype +MONDO:0020525 transient neonatal diabetes mellitus 01-disease-subtype +MONDO:0020526 acute megakaryoblastic leukemia in down syndrome 01-disease-subtype +MONDO:0020531 long chain acyl-CoA dehydrogenase deficiency 01-disease-subtype +MONDO:0020537 occupational allergic alveolitis 01-disease-subtype +MONDO:0020539 extragonadal non-dysgerminomatous germ cell tumor 01-disease-subtype +MONDO:0020547 chronic graft versus host disease 01-disease-subtype +MONDO:0020550 gestational choriocarcinoma 01-disease-subtype +MONDO:0020558 autosomal dominant Charcot-Marie-Tooth disease type 2K 01-disease-subtype +MONDO:0020561 myxoid/round cell liposarcoma 01-disease-subtype +MONDO:0020569 intermediate DEND syndrome 01-disease-subtype +MONDO:0020574 central nervous system nongerminomatous germ cell tumor 01-disease-subtype +MONDO:0020575 polymorphic ventricular tachycardia 01-disease-subtype +MONDO:0020580 germinomatous germ cell tumor 01-disease-subtype +MONDO:0020583 chromosome 17 disorder 03-disease-area +MONDO:0020585 anemia due to erythrocyte enzyme disorder 02-disease-root +MONDO:0020586 factor V deficiency 02-disease-root +MONDO:0020587 factor XI deficiency 01-disease-subtype +MONDO:0020588 lung PEComa 01-disease-subtype +MONDO:0020590 mycobacterial infectious disease 03-disease-area +MONDO:0020592 disorder of pharynx 03-disease-area +MONDO:0020593 trichoblastoma 02-disease-root +MONDO:0020596 mucin-producing carcinoma 03-disease-area +MONDO:0020599 acquired coagulation factor deficiency 02-disease-root +MONDO:0020601 mosquito-borne viral encephalitis 02-disease-root +MONDO:0020604 X-linked dominant disease 02-disease-root +MONDO:0020605 X-linked recessive disease 02-disease-root +MONDO:0020606 sex-linked disease 03-disease-area +MONDO:0020627 epileptic encephalopathy, infantile or early childhood 02-disease-root +MONDO:0020628 microcephaly, growth restriction, and increased sister chromatid exchange 2 01-disease-subtype +MONDO:0020629 microcephaly, growth restriction and increased sister chromatid exchange 02-disease-root +MONDO:0020630 epileptic encephalopathy, infantile or early childhood, 1 01-disease-subtype +MONDO:0020633 anaplastic cancer 02-disease-root +MONDO:0020634 grade III meningioma 01-disease-subtype +MONDO:0020638 superficial spreading melanoma 01-disease-subtype +MONDO:0020639 monosomy 02-disease-root +MONDO:0020642 polycystic kidney disease 03-disease-area +MONDO:0020644 lung non-Hodgkin lymphoma 01-disease-subtype +MONDO:0020645 autosomal dominant osteopetrosis 02-disease-root +MONDO:0020647 microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome 02-disease-root +MONDO:0020648 rubella encephalitis 02-disease-root +MONDO:0020653 vaginal adenocarcinoma 01-disease-subtype +MONDO:0020654 renal pelvis/ureter urothelial carcinoma 02-disease-root +MONDO:0020657 human papillomavirus-related squamous cell carcinoma 01-disease-subtype +MONDO:0020663 malignant spindle cell neoplasm 03-disease-area +MONDO:0020665 high grade malignant neoplasm 03-disease-area +MONDO:0020669 paranasal sinus cancer 01-disease-subtype +MONDO:0020672 vascular occlusion disorder 03-disease-area +MONDO:0020673 arterial occlusion 02-disease-root +MONDO:0020674 vascular insufficiency disorder 03-disease-area +MONDO:0020676 disorder of central nervous system or retinal vasculature 03-disease-area +MONDO:0020677 sudden hearing loss disorder 02-disease-root +MONDO:0020687 supratentorial ependymal tumor 01-disease-subtype +MONDO:0020693 glycogen storage disease due to liver phosphorylase kinase deficiency 02-disease-root +MONDO:0020698 inborn error of biotin metabolism 01-disease-subtype +MONDO:0020699 biotin metabolic disease 03-disease-area +MONDO:0020702 autosomal dominant epidermolytic ichthyosis 01-disease-subtype +MONDO:0020703 erythroid neoplasm 03-disease-area +MONDO:0020704 inherited rippling muscle disease 01-disease-subtype +MONDO:0020720 X-linked hypophosphatemic rickets 01-disease-subtype +MONDO:0020721 X-linked sideroblastic anemia 1 01-disease-subtype +MONDO:0020723 vitamin D-dependent rickets, type 1A 01-disease-subtype +MONDO:0020726 tubulointerstitial kidney disease, autosomal dominant, 2 01-disease-subtype +MONDO:0020732 progeria 02-disease-root +MONDO:0020740 ectodermal dysplasia and immunodeficiency 1 01-disease-subtype +MONDO:0020743 mixed phenotype acute leukemia 01-disease-subtype +MONDO:0020753 Orthocoronavirinae infectious disease 01-disease-subtype +MONDO:0020754 visceral myopathy 02-disease-root +MONDO:0020760 skin squamous cell carcinoma in situ 01-disease-subtype +MONDO:0020761 Bowen disease of the skin 01-disease-subtype +MONDO:0020768 X-linked deafness 02-disease-root +MONDO:0020771 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 02-disease-root +MONDO:0020782 chronic gingivitis 01-disease-subtype +MONDO:0020794 colorectal medullary carcinoma 01-disease-subtype +MONDO:0020795 Silver-Russell syndrome 5 01-disease-subtype +MONDO:0020798 hypoparathyroidism, familial isolated, 2 01-disease-subtype +MONDO:0020811 mitochondrial complex III deficiency, nuclear type 02-disease-root +MONDO:0020820 distal arthrogryposis type 2B1 01-disease-subtype +MONDO:0020831 congenital vertebral-cardiac-renal anomalies syndrome 02-disease-root +MONDO:0020841 neurodevelopmental disorder with cerebellar atrophy and with or without seizures 02-disease-root +MONDO:0020845 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 01-disease-subtype +MONDO:0020846 intellectual disability, autosomal recessive 64 01-disease-subtype +MONDO:0020847 intellectual disability, autosomal dominant 58 01-disease-subtype +MONDO:0020850 intellectual disability, autosomal recessive 65 01-disease-subtype +MONDO:0020852 spermatogenic failure 31 01-disease-subtype +MONDO:0020853 encephalitis/encephalopathy, mild, with reversible myelin vacuolization 02-disease-root +MONDO:0020854 Liddle syndrome 2 01-disease-subtype +MONDO:0020927 postaxial polydactyly 02-disease-root +MONDO:0020937 contractures, pterygia, and variable skeletal fusions syndrome 02-disease-root +MONDO:0020947 parasitic eye infection 03-disease-area +MONDO:0020950 viral eye infection 03-disease-area +MONDO:0021002 syndactyly 03-disease-area +MONDO:0021003 polydactyly 03-disease-area +MONDO:0021004 brachydactyly 02-disease-root +MONDO:0021005 faciodigitogenital syndrome 02-disease-root +MONDO:0021009 salivary gland mucoepidermoid carcinoma 01-disease-subtype +MONDO:0021018 autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) 01-disease-subtype +MONDO:0021019 X-linked recessive ocular albinism 01-disease-subtype +MONDO:0021020 Crigler-Najjar syndrome type 1 01-disease-subtype +MONDO:0021022 hereditary hyperekplexia 02-disease-root +MONDO:0021023 complete androgen insensitivity syndrome 01-disease-subtype +MONDO:0021026 genetic epidermal appendage anomaly 03-disease-area +MONDO:0021027 genetic hair anomaly 03-disease-area +MONDO:0021028 genetic nail anomaly 02-disease-root +MONDO:0021029 genetic sebaceous gland anomaly 02-disease-root +MONDO:0021034 genetic alopecia 03-disease-area +MONDO:0021036 keratosis pilaris 03-disease-area +MONDO:0021038 Ewing sarcoma/peripheral primitive neuroectodermal tumor 02-disease-root +MONDO:0021041 pleural solitary fibrous tumor 01-disease-subtype +MONDO:0021043 mixed neoplasm 03-disease-area +MONDO:0021046 breast fibroepithelial neoplasm 03-disease-area +MONDO:0021047 breast phyllodes tumor 01-disease-subtype +MONDO:0021049 vulvar neoplasm 03-disease-area +MONDO:0021052 parasympathetic paraganglioma 03-disease-area +MONDO:0021053 carotid body paraganglioma 02-disease-root +MONDO:0021054 bone sarcoma 02-disease-root +MONDO:0021055 classic familial adenomatous polyposis 02-disease-root +MONDO:0021056 familial adenomatous polyposis 1 01-disease-subtype +MONDO:0021057 classic or attenuated familial adenomatous polyposis 01-disease-subtype +MONDO:0021058 neoplastic syndrome 03-disease-area +MONDO:0021063 malignant colon neoplasm 03-disease-area +MONDO:0021064 jugulotympanic paraganglioma 02-disease-root +MONDO:0021065 pleural neoplasm 03-disease-area +MONDO:0021066 urinary system neoplasm 03-disease-area +MONDO:0021067 mediastinal germ cell tumor 01-disease-subtype +MONDO:0021069 malignant endocrine neoplasm 03-disease-area +MONDO:0021072 sympathetic paraganglioma 03-disease-area +MONDO:0021074 precancerous condition 03-disease-area +MONDO:0021075 neoplastic polyp 03-disease-area +MONDO:0021076 pancreatic exocrine neoplasm 03-disease-area +MONDO:0021077 cystic neoplasm 03-disease-area +MONDO:0021078 glandular papilloma 01-disease-subtype +MONDO:0021079 childhood neoplasm 03-disease-area +MONDO:0021080 blood vessel neoplasm 03-disease-area +MONDO:0021084 vision disorder 03-disease-area +MONDO:0021086 gingival neoplasm 03-disease-area +MONDO:0021089 peripheral nervous system cancer 03-disease-area +MONDO:0021091 papillary cystadenoma 01-disease-subtype +MONDO:0021092 fallopian tube neoplasm 03-disease-area +MONDO:0021094 immunodeficiency disease 03-disease-area +MONDO:0021095 parkinsonian disorder 03-disease-area +MONDO:0021096 papillary epithelial neoplasm 03-disease-area +MONDO:0021106 laminopathy 03-disease-area +MONDO:0021107 narcolepsy 02-disease-root +MONDO:0021108 meningitis 03-disease-area +MONDO:0021109 inverted urothelial papilloma 01-disease-subtype +MONDO:0021110 sweat gland adenoma 02-disease-root +MONDO:0021114 Bartholin gland neoplasm 03-disease-area +MONDO:0021115 luminal B breast carcinoma 01-disease-subtype +MONDO:0021116 luminal A breast carcinoma 01-disease-subtype +MONDO:0021117 lung neoplasm 03-disease-area +MONDO:0021118 intestinal neoplasm 03-disease-area +MONDO:0021119 non-functioning endocrine neoplasm 03-disease-area +MONDO:0021120 functioning endocrine neoplasm 03-disease-area +MONDO:0021121 hemangioendothelioma 02-disease-root +MONDO:0021123 Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone 01-disease-subtype +MONDO:0021133 acquired factor XIII deficiency 01-disease-subtype +MONDO:0021134 acquired factor X deficiency 01-disease-subtype +MONDO:0021138 bone marrow cancer 03-disease-area +MONDO:0021142 acquired rippling muscle disease 01-disease-subtype +MONDO:0021143 melanocytic neoplasm 03-disease-area +MONDO:0021144 ovarian clear cell tumor 02-disease-root +MONDO:0021148 female reproductive system neoplasm 03-disease-area +MONDO:0021154 dermis disorder 03-disease-area +MONDO:0021155 X-linked cone-rod dystrophy 01-disease-subtype +MONDO:0021164 posthitis 02-disease-root +MONDO:0021165 Paget disease 02-disease-root +MONDO:0021169 epithelioid hemangioma 02-disease-root +MONDO:0021179 proteostasis deficiencies 03-disease-area +MONDO:0021180 acquired xanthinuria 01-disease-subtype +MONDO:0021181 inherited blood coagulation disorder 03-disease-area +MONDO:0021184 deltaretrovirus infections 02-disease-root +MONDO:0021187 hyperlipidemia 02-disease-root +MONDO:0021189 intestinal motility disease 03-disease-area +MONDO:0021192 odontogenic neoplasm 03-disease-area +MONDO:0021193 neuroepithelial neoplasm 03-disease-area +MONDO:0021201 skin infection 03-disease-area +MONDO:0021204 chronic otitis media 02-disease-root +MONDO:0021205 disorder of ear 03-disease-area +MONDO:0021206 chronic non-suppurative otitis media 01-disease-subtype +MONDO:0021208 endocrine alopecia 02-disease-root +MONDO:0021218 placenta neoplasm 03-disease-area +MONDO:0021222 lacrimal gland neoplasm 03-disease-area +MONDO:0021224 iris neoplasm 03-disease-area +MONDO:0021225 uvea neoplasm 03-disease-area +MONDO:0021229 ciliary body neoplasm 02-disease-root +MONDO:0021230 uterine cervix neoplasm 03-disease-area +MONDO:0021232 pineal body neoplasm 03-disease-area +MONDO:0021233 ear neoplasm 03-disease-area +MONDO:0021237 adrenal medulla neoplasm 03-disease-area +MONDO:0021238 cornea neoplasm 03-disease-area +MONDO:0021246 pharynx neoplasm 03-disease-area +MONDO:0021248 nervous system neoplasm 03-disease-area +MONDO:0021249 lip neoplasm 03-disease-area +MONDO:0021250 tonsil neoplasm 03-disease-area +MONDO:0021251 endometrium neoplasm 03-disease-area +MONDO:0021254 corpus uteri neoplasm 03-disease-area +MONDO:0021257 glomus jugulare neoplasm 03-disease-area +MONDO:0021258 choroid neoplasm 03-disease-area +MONDO:0021259 prostate neoplasm 03-disease-area +MONDO:0021271 villous adenoma of colon 01-disease-subtype +MONDO:0021272 inherited orthostatic hypotension 02-disease-root +MONDO:0021279 mucoepidermoid carcinoma of submandibular gland 01-disease-subtype +MONDO:0021280 mucoepidermoid carcinoma of parotid gland 01-disease-subtype +MONDO:0021289 carcinoma in situ of cecum 01-disease-subtype +MONDO:0021300 adenoid cystic carcinoma of oropharynx 01-disease-subtype +MONDO:0021301 adenoma of nipple 01-disease-subtype +MONDO:0021303 adenoma of small intestine 02-disease-root +MONDO:0021309 malignant neoplasm of endocervix 01-disease-subtype +MONDO:0021310 malignant tumor of neck 03-disease-area +MONDO:0021311 malignant tumor of parathyroid gland 02-disease-root +MONDO:0021312 malignant tumor of adrenal cortex 01-disease-subtype +MONDO:0021313 eyelid cancer 01-disease-subtype +MONDO:0021316 malignant tumor of minor salivary gland 01-disease-subtype +MONDO:0021320 malignant tumor of floor of mouth 02-disease-root +MONDO:0021321 malignant tumor of extrahepatic bile duct 01-disease-subtype +MONDO:0021322 malignant tumor of meninges 03-disease-area +MONDO:0021327 carcinoma of urethra 01-disease-subtype +MONDO:0021334 immunoproliferative disorder 03-disease-area +MONDO:0021335 carcinoma of duodenum 01-disease-subtype +MONDO:0021337 tonsil carcinoma 01-disease-subtype +MONDO:0021340 intertrigo 02-disease-root +MONDO:0021343 carcinoma of floor of mouth 01-disease-subtype +MONDO:0021345 carcinoma of pharynx 02-disease-root +MONDO:0021348 neoplasm of testis 03-disease-area +MONDO:0021350 neoplasm of thorax 03-disease-area +MONDO:0021351 neoplasm of neck 03-disease-area +MONDO:0021354 tumor of adipose tissue 03-disease-area +MONDO:0021355 neoplasm of esophagus 03-disease-area +MONDO:0021358 neoplasm of hypopharynx 03-disease-area +MONDO:0021360 tumor of parathyroid gland 03-disease-area +MONDO:0021364 neoplasm of oropharynx 03-disease-area +MONDO:0021366 neoplasm of middle ear 03-disease-area +MONDO:0021368 neoplasm of major salivary gland 03-disease-area +MONDO:0021370 neoplasm of minor salivary gland 03-disease-area +MONDO:0021374 neoplasm of cerebral hemisphere 03-disease-area +MONDO:0021375 tumor of duodenum 03-disease-area +MONDO:0021381 neoplasm of pericardium 03-disease-area +MONDO:0021383 neoplasm of floor of mouth 03-disease-area +MONDO:0021385 extrahepatic bile duct neoplasm 03-disease-area +MONDO:0021386 neoplasm of mediastinum 03-disease-area +MONDO:0021392 polyp of large intestine 03-disease-area +MONDO:0021396 polyp of vulva 03-disease-area +MONDO:0021398 polyp of rectum 03-disease-area +MONDO:0021400 polyp of colon 03-disease-area +MONDO:0021416 polyp of gallbladder 02-disease-root +MONDO:0021439 benign neoplasm of pituitary gland 02-disease-root +MONDO:0021440 benign neoplasm of skin 03-disease-area +MONDO:0021444 benign neoplasm of large intestine 02-disease-root +MONDO:0021445 benign neoplasm of oral cavity 02-disease-root +MONDO:0021449 benign neoplasm of stomach 02-disease-root +MONDO:0021450 benign neoplasm of heart 02-disease-root +MONDO:0021452 benign neoplasm of cornea 02-disease-root +MONDO:0021454 benign neoplasm of eye 03-disease-area +MONDO:0021460 benign neoplasm of salivary gland 02-disease-root +MONDO:0021462 benign neoplasm of rectum 01-disease-subtype +MONDO:0021463 benign neoplasm of parathyroid gland 03-disease-area +MONDO:0021468 benign neoplasm of adrenal medulla 02-disease-root +MONDO:0021469 benign neoplasm of anus 01-disease-subtype +MONDO:0021470 benign neoplasm of pancreas 02-disease-root +MONDO:0021474 benign neoplasm of ear 02-disease-root +MONDO:0021476 benign neoplasm of tongue 02-disease-root +MONDO:0021487 benign neoplasm of choroid 02-disease-root +MONDO:0021489 benign neoplasm of sweat gland 02-disease-root +MONDO:0021496 benign neoplasm of lip 02-disease-root +MONDO:0021499 benign neoplasm of cerebellum 03-disease-area +MONDO:0021501 benign neoplasm of small intestine 02-disease-root +MONDO:0021506 benign neoplasm of spinal cord 02-disease-root +MONDO:0021510 benign neoplasm of prostate 02-disease-root +MONDO:0021511 benign neoplasm of adrenal gland 03-disease-area +MONDO:0021525 benign neoplasm of corpus uteri 03-disease-area +MONDO:0021533 intestinal neuroendocrine tumor G1 02-disease-root +MONDO:0021539 hamartoma of skin appendage 02-disease-root +MONDO:0021545 myomatous neoplasm 03-disease-area +MONDO:0021546 ependymal tumor of spinal cord 01-disease-subtype +MONDO:0021548 total early-onset cataract 01-disease-subtype +MONDO:0021553 transverse myelitis 01-disease-subtype +MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant 01-disease-subtype +MONDO:0021580 neoplasm of jaw 03-disease-area +MONDO:0021581 connective tissue neoplasm 03-disease-area +MONDO:0021582 lentigo 02-disease-root +MONDO:0021583 melanocytic skin neoplasm 03-disease-area +MONDO:0021605 benign eyelid neoplasm 03-disease-area +MONDO:0021629 uterine ligament neoplasm 03-disease-area +MONDO:0021631 brain astrocytoma 03-disease-area +MONDO:0021632 primary brain neoplasm 03-disease-area +MONDO:0021633 cerebral astrocytoma 02-disease-root +MONDO:0021634 epithelial skin neoplasm 03-disease-area +MONDO:0021637 low grade glioma 03-disease-area +MONDO:0021638 low grade astrocytic tumor 03-disease-area +MONDO:0021639 grade II glioma 03-disease-area +MONDO:0021640 grade III glioma 02-disease-root +MONDO:0021651 synpolydactyly 02-disease-root +MONDO:0021652 diffuse type adenocarcinoma 03-disease-area +MONDO:0021653 cutaneous focal mucinosis 02-disease-root +MONDO:0021656 nongerminomatous germ cell tumor 01-disease-subtype +MONDO:0021657 ovarian sex cord-stromal tumor 02-disease-root +MONDO:0021658 vascular ectasia 02-disease-root +MONDO:0021659 combined carcinoid and adenocarcinoma 02-disease-root +MONDO:0021661 coronary atherosclerosis 01-disease-subtype +MONDO:0021662 bile duct neoplasm 03-disease-area +MONDO:0021663 sarcomatoid squamous cell carcinoma 01-disease-subtype +MONDO:0021666 ear infection 03-disease-area +MONDO:0021669 post-infectious disorder 03-disease-area +MONDO:0021677 post-infectious neuralgia 01-disease-subtype +MONDO:0021678 gram-negative bacterial infections 03-disease-area +MONDO:0021679 gram-positive bacterial infections 03-disease-area +MONDO:0021681 sexually transmitted disease 03-disease-area +MONDO:0021682 viral sexually transmitted disease 03-disease-area +MONDO:0021698 alcohol-related disorders 03-disease-area +MONDO:0021699 alcohol-induced disorders 02-disease-root +MONDO:0021718 polyneuritis 01-disease-subtype +MONDO:0021739 prurigo 02-disease-root +MONDO:0021747 Acanthamoeba infectious disease 03-disease-area +MONDO:0021765 radiculitis 02-disease-root +MONDO:0021804 silicotuberculosis 01-disease-subtype +MONDO:0021812 adnexal spiradenoma/cylindroma of a sweat gland 01-disease-subtype +MONDO:0021925 tracheobronchitis 02-disease-root +MONDO:0021944 auditory neuropathy 02-disease-root +MONDO:0021945 hearing disorder 03-disease-area +MONDO:0021953 tuberculous fibrosis of lung 01-disease-subtype +MONDO:0022057 calcifying epithelial odontogenic tumor 02-disease-root +MONDO:0022096 pyogenic granuloma 01-disease-subtype +MONDO:0022113 central centrifugal cicatricial alopecia 02-disease-root +MONDO:0022173 chromosome 11q trisomy 01-disease-subtype +MONDO:0022174 chromosome 12p deletion 01-disease-subtype +MONDO:0022177 chromosome 13q trisomy 01-disease-subtype +MONDO:0022180 chromosome 16 trisomy 02-disease-root +MONDO:0022208 crystal arthropathy 02-disease-root +MONDO:0022293 vascular disorder of penis 02-disease-root +MONDO:0022394 cervical intraepithelial neoplasia 02-disease-root +MONDO:0022409 nephropathy-associated ciliopathy 03-disease-area +MONDO:0022410 retinal ciliopathy 03-disease-area +MONDO:0022529 BK-virus nephropathy 01-disease-subtype +MONDO:0022672 autosomal dominant cataract 01-disease-subtype +MONDO:0022687 cerebellar degeneration 03-disease-area +MONDO:0022723 chondrodysplasia 02-disease-root +MONDO:0022736 occupational lung disease 03-disease-area +MONDO:0022749 non-neoplastic nevus 02-disease-root +MONDO:0022752 chromosome 16p13.3 deletion syndrome 01-disease-subtype +MONDO:0022754 chromosome 17p deletion 01-disease-subtype +MONDO:0022756 chromosome 1q deletion 01-disease-subtype +MONDO:0022757 chromosome 20 trisomy 01-disease-subtype +MONDO:0022759 trisomy 22 01-disease-subtype +MONDO:0022760 chromosome 22q deletion 02-disease-root +MONDO:0022762 chromosome 4 short arm deletion 01-disease-subtype +MONDO:0022770 circumscribed cutaneous aplasia of the vertex 02-disease-root +MONDO:0022800 type 2 collagenopathy 01-disease-subtype +MONDO:0022880 corticobasal degeneration 02-disease-root +MONDO:0022963 desmoplastic infantile astrocytoma 02-disease-root +MONDO:0022965 desmoplastic infantile ganglioglioma 02-disease-root +MONDO:0023069 enlarged vestibular aqueduct syndrome 02-disease-root +MONDO:0023113 familial colorectal cancer 01-disease-subtype +MONDO:0023122 familial prostate carcinoma 01-disease-subtype +MONDO:0023149 infection due to clostridium perfringens 01-disease-subtype +MONDO:0023154 fibromatosis multiple non ossifying 02-disease-root +MONDO:0023206 functional pancreatic neuroendocrine tumor 01-disease-subtype +MONDO:0023224 inherited reflex epilepsy 01-disease-subtype +MONDO:0023243 glass-chapman-hockley syndrome 02-disease-root +MONDO:0023258 glycogen storage disease type 1 due to SLC37A4 mutation 01-disease-subtype +MONDO:0023297 guttate psoriasis 01-disease-subtype +MONDO:0023369 disorder of facial skeleton 03-disease-area +MONDO:0023370 neoplastic disease or syndrome 03-disease-area +MONDO:0023419 hyperprolinemia 01-disease-subtype +MONDO:0023557 infective vaginitis 01-disease-subtype +MONDO:0023603 hereditary disorder of connective tissue 03-disease-area +MONDO:0023619 lentigo maligna melanoma 01-disease-subtype +MONDO:0023644 lip and oral cavity carcinoma 03-disease-area +MONDO:0023691 maple syrup urine disease type 1A 01-disease-subtype +MONDO:0023692 maple syrup urine disease type 1B 01-disease-subtype +MONDO:0023726 mediastinal yolk sac tumor 01-disease-subtype +MONDO:0023757 meralgia paresthetica 02-disease-root +MONDO:0023865 corneal infection 01-disease-subtype +MONDO:0023868 melanoma associated retinopathy 02-disease-root +MONDO:0024237 inherited neurodegenerative disorder 03-disease-area +MONDO:0024239 congenital anomaly of cardiovascular system 03-disease-area +MONDO:0024240 eccrine carcinoma 01-disease-subtype +MONDO:0024247 benign eccrine neoplasm 03-disease-area +MONDO:0024252 global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome 01-disease-subtype +MONDO:0024255 genetic skin disease 03-disease-area +MONDO:0024257 hereditary motor neuron disease 03-disease-area +MONDO:0024263 neonatal aspiration syndrome 02-disease-root +MONDO:0024268 superficial mycosis 02-disease-root +MONDO:0024271 intestinal helminthiasis 02-disease-root +MONDO:0024275 amebic dysentery 01-disease-subtype +MONDO:0024276 glandular cell neoplasm 03-disease-area +MONDO:0024280 polyarticular arthritis 02-disease-root +MONDO:0024282 mucinous ovarian cancer 02-disease-root +MONDO:0024286 benign blood vessel neoplasm 03-disease-area +MONDO:0024287 congenital vascular malformation 01-disease-subtype +MONDO:0024290 enuresis 02-disease-root +MONDO:0024292 gastrointestinal polyp 02-disease-root +MONDO:0024294 skin disorder caused by infection 03-disease-area +MONDO:0024295 skin disease caused by bacterial infection 02-disease-root +MONDO:0024296 vascular neoplasm 03-disease-area +MONDO:0024298 vitamin deficiency disorder 03-disease-area +MONDO:0024299 vitamin D-dependent rickets 01-disease-subtype +MONDO:0024300 hypophosphatemic rickets 01-disease-subtype +MONDO:0024301 acquired mineral metabolism disease 02-disease-root +MONDO:0024305 acquired hyperprolactinemia 01-disease-subtype +MONDO:0024306 acquired lactic acidosis 01-disease-subtype +MONDO:0024307 prothrombin deficiency 02-disease-root +MONDO:0024308 pseudoxanthoma elasticum (inherited or acquired) 02-disease-root +MONDO:0024311 cancer affecting bone of limb skeleton 02-disease-root +MONDO:0024315 parasitic endophthalmitis 01-disease-subtype +MONDO:0024318 viral infection of central nervous system 03-disease-area +MONDO:0024320 inner ear neoplasm 03-disease-area +MONDO:0024321 disorder of GPI anchor biosynthesis 03-disease-area +MONDO:0024322 disorder of glycosylation 03-disease-area +MONDO:0024334 peripheral nerve lesion 03-disease-area +MONDO:0024337 urothelial neoplasm 03-disease-area +MONDO:0024338 mucinous neoplasm 03-disease-area +MONDO:0024339 lymph node neoplasm 03-disease-area +MONDO:0024341 retinal cell neoplasm 03-disease-area +MONDO:0024352 viral respiratory tract infection 03-disease-area +MONDO:0024355 respiratory tract infectious disorder 03-disease-area +MONDO:0024358 complex sleep apnea 01-disease-subtype +MONDO:0024361 circadian rhythm sleep disorder 02-disease-root +MONDO:0024387 benign ovarian sex cord-stromal tumor 01-disease-subtype +MONDO:0024389 anaerobic bacteria infectious disease 03-disease-area +MONDO:0024392 anaerobic balanitis 01-disease-subtype +MONDO:0024414 anaerobic cellulitis 01-disease-subtype +MONDO:0024417 perceptual disorders 03-disease-area +MONDO:0024419 enthesitis 01-disease-subtype +MONDO:0024431 bilirubin metabolism disease 03-disease-area +MONDO:0024457 neurodegeneration with brain iron accumulation 2A 01-disease-subtype +MONDO:0024458 disorder of visual system 03-disease-area +MONDO:0024464 pituitary hormone deficiency, combined, 1 01-disease-subtype +MONDO:0024468 anterior pituitary gland disorder 03-disease-area +MONDO:0024469 chondrogenic neoplasm 03-disease-area +MONDO:0024470 benign chondrogenic neoplasm 03-disease-area +MONDO:0024474 intraepithelial neoplasia 02-disease-root +MONDO:0024475 squamous cell intraepithelial neoplasia 03-disease-area +MONDO:0024476 epithelial neoplasm of rectum 03-disease-area +MONDO:0024477 liver and intrahepatic bile duct neoplasm 03-disease-area +MONDO:0024478 mesenchymal hamartoma 02-disease-root +MONDO:0024479 epithelial tumor of colon 03-disease-area +MONDO:0024481 skin appendage disorder 03-disease-area +MONDO:0024482 eccrine sweat gland hamartoma 01-disease-subtype +MONDO:0024483 urothelial hyperplasia 02-disease-root +MONDO:0024499 vascular bone neoplasm 03-disease-area +MONDO:0024500 duodenal neuroendocrine neoplasm 03-disease-area +MONDO:0024501 appendix neuroendocrine neoplasm 03-disease-area +MONDO:0024502 gallbladder neuroendocrine neoplasm 03-disease-area +MONDO:0024503 digestive system neuroendocrine neoplasm 03-disease-area +MONDO:0024516 familial acne inversa 02-disease-root +MONDO:0024519 renal hypodysplasia/aplasia 1 01-disease-subtype +MONDO:0024525 Fanconi renotubular syndrome 1 01-disease-subtype +MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 01-disease-subtype +MONDO:0024548 peeling skin syndrome 1 01-disease-subtype +MONDO:0024568 infantile liver failure syndrome 1 01-disease-subtype +MONDO:0024572 immunodeficiency-related disorder 03-disease-area +MONDO:0024573 familial hypertrophic cardiomyopathy 03-disease-area +MONDO:0024574 von Willebrand disease (hereditary or acquired) 02-disease-root +MONDO:0024582 male reproductive system neoplasm 03-disease-area +MONDO:0024610 parasitic skin disorder 03-disease-area +MONDO:0024611 orbit neoplasm 03-disease-area +MONDO:0024615 T-cell and NK-cell neoplasm 03-disease-area +MONDO:0024618 poliovirus infection 03-disease-area +MONDO:0024620 meningitis caused by poliovirus 02-disease-root +MONDO:0024621 serous cystadenocarcinoma 01-disease-subtype +MONDO:0024622 thyroid gland adenocarcinoma 03-disease-area +MONDO:0024625 disorder of lacrimal gland 03-disease-area +MONDO:0024633 hypertensive nephropathy 02-disease-root +MONDO:0024634 large intestine disorder 03-disease-area +MONDO:0024635 small intestine disorder 03-disease-area +MONDO:0024636 inflammation of heart layer 03-disease-area +MONDO:0024637 malignant soft tissue neoplasm 03-disease-area +MONDO:0024643 myocardial disorder 03-disease-area +MONDO:0024645 retroperitoneal neoplasm 03-disease-area +MONDO:0024647 urolithiasis 03-disease-area +MONDO:0024649 optic tract astrocytoma 01-disease-subtype +MONDO:0024653 skull neoplasm 03-disease-area +MONDO:0024654 skull disorder 03-disease-area +MONDO:0024656 colorectal lymphoma 01-disease-subtype +MONDO:0024660 tubular adenoma 02-disease-root +MONDO:0024661 tubulovillous adenoma 02-disease-root +MONDO:0024662 colorectal tubulovillous adenoma 01-disease-subtype +MONDO:0024664 hypertension, pregnancy-induced 01-disease-subtype +MONDO:0024665 indeterminate sex and/or pseudohermaphroditism 02-disease-root +MONDO:0024666 benign epithelial skin neoplasm 03-disease-area +MONDO:0024677 pancreatic insulinoma 01-disease-subtype +MONDO:0024757 cardiovascular neoplasm 03-disease-area +MONDO:0024813 pulmonary sulcus neoplasm 03-disease-area +MONDO:0024876 tendon sheath disorder 01-disease-subtype +MONDO:0024878 secondary carcinoma 02-disease-root +MONDO:0024879 metastatic carcinoma 01-disease-subtype +MONDO:0024880 metastatic malignant neoplasm 03-disease-area +MONDO:0024882 secondary neoplasm 03-disease-area +MONDO:0024885 malignant ovarian serous tumor 01-disease-subtype +MONDO:0024886 serous adenofibroma 01-disease-subtype +MONDO:0024890 pineal parenchymal cell neoplasm 03-disease-area +MONDO:0024892 soft tissue amyloid neoplasm 02-disease-root +MONDO:0024913 cattle disease 04-non-disease +MONDO:0024934 fish disease 04-non-disease +MONDO:0024969 parasitic disease, non-human animal 01-disease-subtype +MONDO:0024988 sex cord-stromal benign neoplasm 03-disease-area +MONDO:0025013 non-human primate disease 04-non-disease +MONDO:0025082 helminthiasis, animal 01-disease-subtype +MONDO:0025102 monkey disease 04-non-disease +MONDO:0025193 oculopharyngodistal myopathy 02-disease-root +MONDO:0025294 tick-borne infectious disease 03-disease-area +MONDO:0025303 anaplasmosis 01-disease-subtype +MONDO:0025371 Parvoviridae infectious disease 03-disease-area +MONDO:0025445 Wieacker-Wolff syndrome (spectrum) 02-disease-root +MONDO:0025481 zoonosis 02-disease-root +MONDO:0025484 simian acquired immunodeficiency syndrome 01-disease-subtype +MONDO:0025511 inherited neuroendocrine tumor 03-disease-area +MONDO:0025986 megacystis-microcolon-intestinal hypoperistalsis syndrome 02-disease-root +MONDO:0026045 prurigo nodularis 02-disease-root +MONDO:0026722 Mullegama-Klein-Martinez syndrome 02-disease-root +MONDO:0026730 Basilicata-Akhtar syndrome 02-disease-root +MONDO:0026733 intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type 02-disease-root +MONDO:0026767 immunodeficiency 74, COVID-19-related, X-linked 02-disease-root +MONDO:0027407 Kleefstra syndrome 1 01-disease-subtype +MONDO:0027749 serpinopathy 02-disease-root +MONDO:0027766 generalized lipodystrophy 02-disease-root +MONDO:0027767 partial lipodystrophy 02-disease-root +MONDO:0027772 lung colloid adenocarcinoma 01-disease-subtype +MONDO:0028226 autosomal recessive severe congenital neutropenia 01-disease-subtype +MONDO:0029130 polydactyly, postaxial, type A8 01-disease-subtype +MONDO:0029131 peripheral neuropathy, autosomal recessive, with or without impaired intellectual development 02-disease-root +MONDO:0029133 muscular dystrophy, limb-girdle, autosomal dominant 4 01-disease-subtype +MONDO:0029134 severe combined immunodeficiency due to CARMIL2 deficiency 02-disease-root +MONDO:0029135 muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 01-disease-subtype +MONDO:0029136 muscular dystrophy, limb-girdle, autosomal recessive 23 01-disease-subtype +MONDO:0029137 hearing loss, autosomal dominant 74 01-disease-subtype +MONDO:0029140 glycosylphosphatidylinositol biosynthesis defect 18 02-disease-root +MONDO:0029143 intellectual developmental disorder with hypertelorism and distinctive facies 02-disease-root +MONDO:0029144 extraoral halitosis due to methanethiol oxidase deficiency 02-disease-root +MONDO:0030006 combined oxidative phosphorylation deficiency 40 02-disease-root +MONDO:0030007 combined oxidative phosphorylation deficiency 41 02-disease-root +MONDO:0030008 combined oxidative phosphorylation deficiency 42 02-disease-root +MONDO:0030013 immunodeficiency 66 02-disease-root +MONDO:0030015 bone marrow failure syndrome 6 01-disease-subtype +MONDO:0030017 combined oxidative phosphorylation deficiency 43 02-disease-root +MONDO:0030019 anauxetic dysplasia 3 01-disease-subtype +MONDO:0030020 combined oxidative phosphorylation deficiency 44 02-disease-root +MONDO:0030024 neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities 02-disease-root +MONDO:0030025 neurodevelopmental disorder with hypotonia, microcephaly, and seizures 02-disease-root +MONDO:0030027 tremor, hereditary essential, 6 01-disease-subtype +MONDO:0030028 neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline 02-disease-root +MONDO:0030029 skeletal dysplasia, mild, with joint laxity and advanced bone age 02-disease-root +MONDO:0030030 Nizon-Isidor syndrome 02-disease-root +MONDO:0030031 lissencephaly 10 02-disease-root +MONDO:0030033 seizures, early-onset, with neurodegeneration and brain calcifications 02-disease-root +MONDO:0030034 epilepsy, progressive myoclonic, 11 01-disease-subtype +MONDO:0030035 leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome 02-disease-root +MONDO:0030036 leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome 02-disease-root +MONDO:0030037 neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures 02-disease-root +MONDO:0030038 glaucoma, primary closed-angle 02-disease-root +MONDO:0030042 proteinuria, chronic benign 02-disease-root +MONDO:0030043 congenital disorder of glycosylation, type iit 01-disease-subtype +MONDO:0030044 pseudo-TORCH syndrome 3 01-disease-subtype +MONDO:0030045 Liberfarb syndrome 02-disease-root +MONDO:0030046 neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity 02-disease-root +MONDO:0030047 microcephaly, developmental delay, and brittle hair syndrome 02-disease-root +MONDO:0030048 harderoporphyria 02-disease-root +MONDO:0030049 46,xx sex reversal 5 02-disease-root +MONDO:0030051 intellectual developmental disorder with autistic features and language delay, with or without seizures 02-disease-root +MONDO:0030054 developmental and epileptic encephalopathy, 86 01-disease-subtype +MONDO:0030055 sorbitol dehydrogenase deficiency with peripheral neuropathy 02-disease-root +MONDO:0030057 neurodevelopmental, jaw, eye, and digital syndrome 02-disease-root +MONDO:0030058 hearing loss, autosomal dominant 77 01-disease-subtype +MONDO:0030059 developmental and epileptic encephalopathy, 87 01-disease-subtype +MONDO:0030060 neurodevelopmental disorder with language impairment and behavioral abnormalities 02-disease-root +MONDO:0030061 periventricular nodular heterotopia 9 01-disease-subtype +MONDO:0030062 arrhythmogenic right ventricular dysplasia, familial, 14 01-disease-subtype +MONDO:0030063 neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities 02-disease-root +MONDO:0030064 episodic ataxia, type 9 01-disease-subtype +MONDO:0030065 agenesis of corpus callosum, cardiac, ocular, and genital syndrome 02-disease-root +MONDO:0030066 granulomatous disease, chronic, autosomal recessive, 5 01-disease-subtype +MONDO:0030067 treacher collins syndrome 4 01-disease-subtype +MONDO:0030069 hyper-IgE recurrent infection syndrome 5, autosomal recessive 01-disease-subtype +MONDO:0030070 heterotaxy, visceral, 9, autosomal, with male infertility 01-disease-subtype +MONDO:0030071 retinitis pigmentosa 89 02-disease-root +MONDO:0030072 developmental and epileptic encephalopathy, 88 01-disease-subtype +MONDO:0030073 Mitchell syndrome 02-disease-root +MONDO:0030074 spondylometaphyseal dysplasia with corneal dystrophy 02-disease-root +MONDO:0030087 diabetes mellitus, permanent neonatal 2 01-disease-subtype +MONDO:0030088 diabetes mellitus, permanent neonatal 3 01-disease-subtype +MONDO:0030089 diabetes mellitus, permanent neonatal 4 01-disease-subtype +MONDO:0030105 galactosemia 4 01-disease-subtype +MONDO:0030118 silver-russell syndrome 4 01-disease-subtype +MONDO:0030134 oculopharyngodistal myopathy 2 01-disease-subtype +MONDO:0030353 Joubert syndrome 38 01-disease-subtype +MONDO:0030502 tetrasomy 02-disease-root +MONDO:0030603 Klebsiella infectious disease 02-disease-root +MONDO:0030701 autoimmune cardiomyopathy 01-disease-subtype +MONDO:0030866 neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities 02-disease-root +MONDO:0030900 intellectual developmental disorder with paroxysmal dyskinesia or seizures 02-disease-root +MONDO:0030907 intellectual disability, X-linked 106 01-disease-subtype +MONDO:0030910 intellectual disability, autosomal dominant 45 01-disease-subtype +MONDO:0030912 intellectual disability, autosomal dominant 47 01-disease-subtype +MONDO:0030914 Clark-Baraitser syndrome 01-disease-subtype +MONDO:0030916 intellectual disability, autosomal dominant 50 01-disease-subtype +MONDO:0030917 intellectual disability, autosomal dominant 51 01-disease-subtype +MONDO:0030922 intellectual disability, autosomal dominant 56 01-disease-subtype +MONDO:0030923 frontotemporal dementia and/or amyotrophic lateral sclerosis 02-disease-root +MONDO:0031037 famililal cerebral cavernous malformations 02-disease-root +MONDO:0031169 odontochondrodysplasia 02-disease-root +MONDO:0031219 mismatch repair cancer syndrome 02-disease-root +MONDO:0031230 mitochondrial complex II deficiency, nuclear type 02-disease-root +MONDO:0031332 Glanzmann thrombasthenia 1 01-disease-subtype +MONDO:0031421 Olmsted syndrome 02-disease-root +MONDO:0031439 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 02-disease-root +MONDO:0031446 hypercholanemia, familial 1 01-disease-subtype +MONDO:0031481 microcephaly, epilepsy, and diabetes syndrome 1 01-disease-subtype +MONDO:0032485 intellectual developmental disorder 61 01-disease-subtype +MONDO:0032591 hyperparathyroidism, transient neonatal 02-disease-root +MONDO:0032594 intellectual developmental disorder and retinitis pigmentosa; IDDRP 02-disease-root +MONDO:0032610 mitochondrial complex 1 deficiency, nuclear type 5 01-disease-subtype +MONDO:0032677 lissencephaly 9 with complex brainstem malformation 02-disease-root +MONDO:0032681 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 02-disease-root +MONDO:0032684 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency 02-disease-root +MONDO:0032687 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature 02-disease-root +MONDO:0032688 polymicrogyria with or without vascular-type ehlers-danlos syndrome 02-disease-root +MONDO:0032697 neurodevelopmental disorder and language delay with or without structural brain abnormalities 02-disease-root +MONDO:0032698 neurodevelopmental disorder with central and peripheral motor dysfunction 02-disease-root +MONDO:0032737 spastic paraplegia 80, autosomal dominant 01-disease-subtype +MONDO:0032745 developmental delay with variable intellectual impairment and behavioral abnormalities 02-disease-root +MONDO:0032751 arthrogryposis, distal, type 2B3 01-disease-subtype +MONDO:0032755 neurodevelopmental disorder with or without variable brain abnormalities; NEDBA 02-disease-root +MONDO:0032760 developmental delay with or without dysmorphic facies and autism 02-disease-root +MONDO:0032763 immunodeficiency 62 02-disease-root +MONDO:0032781 congenital hypotonia, epilepsy, developmental delay, and digital anomalies 02-disease-root +MONDO:0032787 holoprosencephaly 12 with or without pancreatic agenesis 01-disease-subtype +MONDO:0032790 neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities 02-disease-root +MONDO:0032795 intellectual developmental disorder 59 01-disease-subtype +MONDO:0032843 oculopharyngeal myopathy with leukoencephalopathy 1 02-disease-root +MONDO:0032882 Heyn-Sproul-Jackson syndrome 02-disease-root +MONDO:0032884 ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies 02-disease-root +MONDO:0032885 spondyloepimetaphyseal dysplasia, Isidor-Toutain type 02-disease-root +MONDO:0032886 Liang-Wang syndrome 02-disease-root +MONDO:0032887 neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity 02-disease-root +MONDO:0032888 neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies 02-disease-root +MONDO:0032889 Poirier-Bienvenu neurodevelopmental syndrome 02-disease-root +MONDO:0032890 neuromuscular disease and ocular or auditory anomalies with or without seizures 02-disease-root +MONDO:0032891 aneurysm, intracranial berry, 12 01-disease-subtype +MONDO:0032892 structural brain anomalies with impaired intellectual development and craniosynostosis 02-disease-root +MONDO:0032893 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures 02-disease-root +MONDO:0032894 neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy 02-disease-root +MONDO:0032895 developmental and epileptic encephalopathy, 83 01-disease-subtype +MONDO:0032896 spermatogenic failure 42 01-disease-subtype +MONDO:0032897 intellectual developmental disorder with hypotonia and behavioral abnormalities 02-disease-root +MONDO:0032898 spermatogenic failure 43 01-disease-subtype +MONDO:0032899 neutropenia, severe congenital, 8, autosomal dominant 01-disease-subtype +MONDO:0032900 neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements 02-disease-root +MONDO:0032901 Catifa syndrome 02-disease-root +MONDO:0032902 Joubert syndrome 36 01-disease-subtype +MONDO:0032903 arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum 01-disease-subtype +MONDO:0032904 corneal dystrophy, Meesmann, 2 01-disease-subtype +MONDO:0032905 spastic paraplegia 81, autosomal recessive 01-disease-subtype +MONDO:0032906 spastic paraplegia 82, autosomal recessive 01-disease-subtype +MONDO:0032907 lymphatic malformation 8 02-disease-root +MONDO:0032908 CEBALID syndrome 02-disease-root +MONDO:0032909 mitochondrial complex 3 deficiency, nuclear type 10 01-disease-subtype +MONDO:0032910 mitochondrial complex 1 deficiency, nuclear type 34 01-disease-subtype +MONDO:0032911 hearing loss, autosomal dominant 75 01-disease-subtype +MONDO:0032912 Coffin-Siris syndrome 11 01-disease-subtype +MONDO:0032913 congenital heart defects, multiple types, 7 02-disease-root +MONDO:0032914 ciliary dyskinesia, primary, 44 01-disease-subtype +MONDO:0032915 long QT syndrome 16 01-disease-subtype +MONDO:0032916 Imagawa-Matsumoto syndrome 02-disease-root +MONDO:0032917 hearing loss, autosomal dominant 76 01-disease-subtype +MONDO:0032918 developmental and epileptic encephalopathy, 84 01-disease-subtype +MONDO:0032919 intellectual developmental disorder 62 01-disease-subtype +MONDO:0032920 juvenile arthritis due to defect in LACC1 02-disease-root +MONDO:0032921 neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation 02-disease-root +MONDO:0032922 Beck-Fahrner syndrome 02-disease-root +MONDO:0032923 spinocerebellar ataxia, autosomal recessive 28 01-disease-subtype +MONDO:0032924 ciliary dyskinesia, primary, 45 01-disease-subtype +MONDO:0032925 respiratory papillomatosis, juvenile recurrent, congenital 02-disease-root +MONDO:0032926 sandestig-stefanova syndrome 02-disease-root +MONDO:0032927 triokinase and FMN cyclase deficiency syndrome 02-disease-root +MONDO:0032928 T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant 02-disease-root +MONDO:0032930 intellectual developmental disorder with poor growth and with or without seizures or ataxia 02-disease-root +MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal 02-disease-root +MONDO:0032932 mitochondrial DNA depletion syndrome 18 01-disease-subtype +MONDO:0032934 genitourinary and/or brain malformation syndrome 02-disease-root +MONDO:0032935 rhizomelic limb shortening with dysmorphic features 02-disease-root +MONDO:0032936 myopathy, congenital, with respiratory insufficiency and bone fractures 02-disease-root +MONDO:0032937 myopathy, congenital proximal, with minicore lesions 02-disease-root +MONDO:0032938 basal ganglia calcification, idiopathic, 8, autosomal recessive 01-disease-subtype +MONDO:0032939 intellectual developmental disorder, autosomal dominant 63, with macrocephaly 01-disease-subtype +MONDO:0032940 retinitis pigmentosa 88 01-disease-subtype +MONDO:0032941 myopia 27 02-disease-root +MONDO:0032942 neurodevelopmental disorder with microcephaly and dysmorphic facies 02-disease-root +MONDO:0032943 neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies 02-disease-root +MONDO:0033006 Galloway-Mowat syndrome 2, X-linked 01-disease-subtype +MONDO:0033014 erythrokeratodermia variabilis et progressiva 4 01-disease-subtype +MONDO:0033043 spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 02-disease-root +MONDO:0033201 hearing loss, autosomal recessive 57 01-disease-subtype +MONDO:0033352 neuropathy, congenital hypomelinating 02-disease-root +MONDO:0033374 developmental and epileptic encephalopathy, 65 01-disease-subtype +MONDO:0033482 spinocerebellar ataxia 47 01-disease-subtype +MONDO:0033532 Suleiman-El-Hattab syndrome 02-disease-root +MONDO:0033533 combined oxidative phosphorylation deficiency 45 02-disease-root +MONDO:0033534 combined oxidative phosphorylation deficiency 46 02-disease-root +MONDO:0033537 combined oxidative phosphorylation deficiency 47 02-disease-root +MONDO:0033541 immunodeficiency 69 02-disease-root +MONDO:0033542 immunodeficiency 70 02-disease-root +MONDO:0033543 cone-rod synaptic disorder syndrome, congenital nonprogressive 02-disease-root +MONDO:0033544 Tolchin-Le Caignec syndrome 02-disease-root +MONDO:0033545 mitochondrial DNA depletion syndrome 19 01-disease-subtype +MONDO:0033546 neurodegeneration, infantile-onset, biotin-responsive 02-disease-root +MONDO:0033547 Li-Ghorbani-Weisz-Hubshman syndrome 02-disease-root +MONDO:0033548 myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies 02-disease-root +MONDO:0033549 optic atrophy 12 01-disease-subtype +MONDO:0033551 immunodeficiency 72 with autoinflammation 02-disease-root +MONDO:0033554 immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia 01-disease-subtype +MONDO:0033555 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia 01-disease-subtype +MONDO:0033556 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15 01-disease-subtype +MONDO:0033557 hemophagocytic lymphohistiocytosis, familial, 6 01-disease-subtype +MONDO:0033558 autoinflammation, immune dysregulation, and eosinophilia 02-disease-root +MONDO:0033559 intellectual developmental disorder with seizures and language delay 02-disease-root +MONDO:0033560 mitochondrial complex 1 deficiency, nuclear type 35 02-disease-root +MONDO:0033561 deeah syndrome 02-disease-root +MONDO:0033562 neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia 02-disease-root +MONDO:0033563 retinitis pigmentosa 90 01-disease-subtype +MONDO:0033564 oocyte maturation defect 8 01-disease-subtype +MONDO:0033565 oocyte maturation defect 9 01-disease-subtype +MONDO:0033566 combined oxidative phosphorylation deficiency 48 02-disease-root +MONDO:0033569 combined oxidative phosphorylation deficiency 49 02-disease-root +MONDO:0033570 combined oxidative phosphorylation deficiency 50 02-disease-root +MONDO:0033572 intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies 02-disease-root +MONDO:0033613 neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities 01-disease-subtype +MONDO:0033614 spastic paraplegia 83, autosomal recessive 01-disease-subtype +MONDO:0033615 coenzyme q10 deficiency, primary, 9 01-disease-subtype +MONDO:0033618 Vissers-Bodmer syndrome 02-disease-root +MONDO:0033619 myopathy, epilepsy, and progressive cerebral atrophy 02-disease-root +MONDO:0033620 myofibrillar myopathy 10 01-disease-subtype +MONDO:0033621 spinal muscular atrophy, infantile, James type 02-disease-root +MONDO:0033622 spermatogenic failure 44 01-disease-subtype +MONDO:0033635 mitochondrial complex 4 deficiency, nuclear type 3 01-disease-subtype +MONDO:0033636 mitochondrial complex 4 deficiency, nuclear type 4 01-disease-subtype +MONDO:0033637 mitochondrial complex 4 deficiency, nuclear type 7 01-disease-subtype +MONDO:0033638 mitochondrial complex 4 deficiency, nuclear type 8 01-disease-subtype +MONDO:0033639 mitochondrial complex 4 deficiency, nuclear type 10 01-disease-subtype +MONDO:0033645 mitochondrial complex 4 deficiency, nuclear type 11 01-disease-subtype +MONDO:0033646 mitochondrial complex 4 deficiency, nuclear type 12 01-disease-subtype +MONDO:0033649 mitochondrial complex 4 deficiency, nuclear type 14 01-disease-subtype +MONDO:0033650 mitochondrial complex 4 deficiency, nuclear type 15 01-disease-subtype +MONDO:0033651 mitochondrial complex 4 deficiency, nuclear type 16 01-disease-subtype +MONDO:0033652 mitochondrial complex 4 deficiency, nuclear type 17 01-disease-subtype +MONDO:0033653 mitochondrial complex 4 deficiency, nuclear type 18 01-disease-subtype +MONDO:0033654 mitochondrial complex 4 deficiency, nuclear type 19 01-disease-subtype +MONDO:0033655 mitochondrial complex 4 deficiency, nuclear type 20 01-disease-subtype +MONDO:0033656 mitochondrial complex 4 deficiency, nuclear type 21 01-disease-subtype +MONDO:0033683 congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome 01-disease-subtype +MONDO:0033864 infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome 02-disease-root +MONDO:0033885 mitochondrial complex IV deficiency, nuclear-type 02-disease-root +MONDO:0033946 hereditary angioedema with C1Inh deficiency 01-disease-subtype +MONDO:0033947 hereditary angioedema with normal C1Inh 01-disease-subtype +MONDO:0034022 Bethlem myopathy 2 01-disease-subtype +MONDO:0034024 kyphoscoliotic Ehlers-Danlos syndrome 01-disease-subtype +MONDO:0034103 infection-related hemolytic uremic syndrome 01-disease-subtype +MONDO:0034145 oculocerebrodental syndrome 01-disease-subtype +MONDO:0034204 syndromic congenital sodium diarrhea 01-disease-subtype +MONDO:0034217 resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta 01-disease-subtype +MONDO:0034976 iatrogenic Creutzfeldt-Jakob disease 01-disease-subtype +MONDO:0035290 atypical hemolytic uremic syndrome with complement gene abnormality 01-disease-subtype +MONDO:0035737 acquired factor V deficiency 01-disease-subtype +MONDO:0035738 acquired factor VII deficiency 01-disease-subtype +MONDO:0035740 acquired factor XI deficiency 01-disease-subtype +MONDO:0036484 Charcot-Marie-Tooth disease, dominant intermediate G 01-disease-subtype +MONDO:0036511 childhood malignant kidney neoplasm 03-disease-area +MONDO:0036591 adrenal cortex neoplasm 03-disease-area +MONDO:0036688 rhabdomyoma 02-disease-root +MONDO:0036696 spleen neoplasm 03-disease-area +MONDO:0036870 lymphatic vessel neoplasm 03-disease-area +MONDO:0036976 benign epithelial neoplasm 03-disease-area +MONDO:0037003 malignant phyllodes tumor 01-disease-subtype +MONDO:0037254 transitional cell neoplasm 03-disease-area +MONDO:0037255 ovarian serous tumor 02-disease-root +MONDO:0037256 serous neoplasm 03-disease-area +MONDO:0037735 sebaceous gland cancer 01-disease-subtype +MONDO:0037736 infratentorial neoplasm 03-disease-area +MONDO:0037737 peritoneal solitary fibrous tumor 01-disease-subtype +MONDO:0037743 mediastinal soft tissue cancer 01-disease-subtype +MONDO:0037745 fibromyxoid tumor 02-disease-root +MONDO:0037746 malignant vaginal mixed epithelial and mesenchymal neoplasm 03-disease-area +MONDO:0037747 spinal injury 01-disease-subtype +MONDO:0037748 hyperlipoproteinemia 02-disease-root +MONDO:0037792 carbohydrate metabolism disease 03-disease-area +MONDO:0037807 glycerol metabolism disease 03-disease-area +MONDO:0037821 porphyrin metabolism disease 03-disease-area +MONDO:0037829 purine metabolism disease 03-disease-area +MONDO:0037858 inherited fatty acid metabolism disorder 03-disease-area +MONDO:0037870 valine metabolism disease 02-disease-root +MONDO:0037871 amino acid metabolism disease 03-disease-area +MONDO:0037872 bordetellosis 02-disease-root +MONDO:0037937 pyrimidine metabolism disease 03-disease-area +MONDO:0037938 inborn disorder of aspartate family metabolism 02-disease-root +MONDO:0037939 porphyria 03-disease-area +MONDO:0037940 inherited auditory system disease 03-disease-area +MONDO:0040500 glycosylphosphatidylinositol biosynthesis defect 16 01-disease-subtype +MONDO:0040566 inherited glutathione metabolism disease 01-disease-subtype +MONDO:0040653 autosomal recessive ocular albinism 01-disease-subtype +MONDO:0040675 myofibroblastoma 02-disease-root +MONDO:0040677 invasive carcinoma 03-disease-area +MONDO:0040678 infiltrating urothelial carcinoma 02-disease-root +MONDO:0040732 Pseudomonas aeruginosa infectious disease 02-disease-root +MONDO:0040998 Pasteurella multocida infectious disease 01-disease-subtype +MONDO:0041052 postherpetic neuralgia 01-disease-subtype +MONDO:0041086 mixed anxiety and depressive disorder 02-disease-root +MONDO:0041161 endometrial hyperplasia 02-disease-root +MONDO:0041182 polymorphic light eruption 02-disease-root +MONDO:0041261 disorder of acid-base balance 03-disease-area +MONDO:0041447 metastatic malignant neoplasm in the colon 02-disease-root +MONDO:0041806 drug-resistant tuberculosis 02-disease-root +MONDO:0041825 bacterial meningitis caused by gram-negative bacteria 01-disease-subtype +MONDO:0041850 pneumonia caused by gram negative bacteria 01-disease-subtype +MONDO:0042233 disseminated candidiasis 01-disease-subtype +MONDO:0042484 disseminated sporotrichosis 01-disease-subtype +MONDO:0042485 infective arthritis 02-disease-root +MONDO:0042487 uterine cervix carcinoma in situ 01-disease-subtype +MONDO:0042488 Cestode infectious disease 03-disease-area +MONDO:0042493 gastric non-hodgkin lymphoma 01-disease-subtype +MONDO:0042966 inherited mitral valve disease 01-disease-subtype +MONDO:0042968 partial duplication of chromosome 12 01-disease-subtype +MONDO:0042973 familial osteosclerosis 03-disease-area +MONDO:0042976 vitamin B deficiency 02-disease-root +MONDO:0042979 hypokalemic periodic paralysis, type 1 01-disease-subtype +MONDO:0042982 GATA2 deficiency with susceptibility to MDS/AML 03-disease-area +MONDO:0042983 neurocutaneous syndrome 03-disease-area +MONDO:0043003 familial acanthosis nigricans 01-disease-subtype +MONDO:0043005 genetic multiple congenital anomalies/dysmorphic syndrome 03-disease-area +MONDO:0043007 genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome 03-disease-area +MONDO:0043008 genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability 03-disease-area +MONDO:0043009 genetic lethal multiple congenital anomalies/dysmorphic syndrome 02-disease-root +MONDO:0043209 albinism 03-disease-area +MONDO:0043218 neurovascular disorder 03-disease-area +MONDO:0043224 multi-infarct dementia 01-disease-subtype +MONDO:0043237 glossodynia 02-disease-root +MONDO:0043243 leukoplakia 02-disease-root +MONDO:0043364 eosinophil peroxidase deficiency 02-disease-root +MONDO:0043424 digestive system infectious disorder 03-disease-area +MONDO:0043452 chromosome 8, trisomy 01-disease-subtype +MONDO:0043510 brain injury 02-disease-root +MONDO:0043544 nosocomial infection 03-disease-area +MONDO:0043579 enteritis 02-disease-root +MONDO:0043765 presbycusis 02-disease-root +MONDO:0043768 thrombocytopenic purpura 01-disease-subtype +MONDO:0043771 radiodermatitis 01-disease-subtype +MONDO:0043839 ulcer disease 04-non-disease +MONDO:0043878 hereditary optic atrophy 02-disease-root +MONDO:0043885 eye infectious disorder 03-disease-area +MONDO:0043953 burkholderia infectious disease 02-disease-root +MONDO:0044001 hearing loss, mixed conductive-sensorineural 02-disease-root +MONDO:0044200 T-B+ severe combined immunodeficiency 02-disease-root +MONDO:0044201 T+ B+ severe combined immunodeficiency 02-disease-root +MONDO:0044202 episodic kinesigenic dyskinesia 02-disease-root +MONDO:0044203 foveal hypoplasia 02-disease-root +MONDO:0044206 otospondylomegaepiphyseal dysplasia, autosomal recessive 01-disease-subtype +MONDO:0044209 disorder of lectin complement activation pathway 03-disease-area +MONDO:0044211 idiopathic urticaria 01-disease-subtype +MONDO:0044302 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 02-disease-root +MONDO:0044303 congenital heart defects and ectodermal dysplasia 02-disease-root +MONDO:0044304 hyperphenylalaninemia due to DNAJC12 deficiency 01-disease-subtype +MONDO:0044306 neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination 01-disease-subtype +MONDO:0044312 immunoskeletal dysplasia with neurodevelopmental abnormalities 02-disease-root +MONDO:0044316 thrombocytopenia, anemia, and myelofibrosis 02-disease-root +MONDO:0044318 intellectual developmental disorder with gastrointestinal difficulties and high pain threshold 02-disease-root +MONDO:0044319 intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies 01-disease-subtype +MONDO:0044322 intellectual developmental disorder with neuropsychiatric features 02-disease-root +MONDO:0044324 Al Kaissi syndrome 02-disease-root +MONDO:0044325 Fanconi anemia, complementation group W 01-disease-subtype +MONDO:0044326 developmental delay and seizures with or without movement abnormalities 02-disease-root +MONDO:0044327 polycystic liver disease 4 with or without kidney cysts 01-disease-subtype +MONDO:0044331 genetic transient congenital hypothyroidism 01-disease-subtype +MONDO:0044334 connective and soft tissue neoplasm 03-disease-area +MONDO:0044335 benign soft tissue neoplasm 03-disease-area +MONDO:0044347 erythrocyte disorder 03-disease-area +MONDO:0044348 hemoglobinopathy 03-disease-area +MONDO:0044349 acquired hemoglobinopathy 02-disease-root +MONDO:0044626 female infertility due to oocyte meiotic arrest 02-disease-root +MONDO:0044635 diaph1-related sensorineural hearing loss-thrombocytopenia syndrome 02-disease-root +MONDO:0044655 c12orf65-related combined oxidative phosphorylation defect 02-disease-root +MONDO:0044660 menstrual cycle-dependent periodic fever 02-disease-root +MONDO:0044685 autoimmune/inflammatory optic neuropathy 03-disease-area +MONDO:0044699 SIN3A-related intellectual disability syndrome 02-disease-root +MONDO:0044704 oropharynx squamous cell carcinoma 01-disease-subtype +MONDO:0044705 paranasal sinus squamous cell carcinoma 01-disease-subtype +MONDO:0044710 lip and oral cavity squamous cell carcinoma 01-disease-subtype +MONDO:0044714 mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome 01-disease-subtype +MONDO:0044718 alkaline ceramidase 3 deficiency 02-disease-root +MONDO:0044724 3-methylglutaconic aciduria type 9 01-disease-subtype +MONDO:0044725 combined immunodeficiency due to GINS1 deficiency 02-disease-root +MONDO:0044727 pancreatic carcinoma with mixed differentiation 01-disease-subtype +MONDO:0044738 Gabriele de Vries syndrome 02-disease-root +MONDO:0044743 major salivary gland cancer 01-disease-subtype +MONDO:0044744 prekallikrein deficiency 02-disease-root +MONDO:0044746 zoonotic bacterial infection 01-disease-subtype +MONDO:0044750 lassa virus infectious disease 01-disease-subtype +MONDO:0044751 chronic diarrheal disease 02-disease-root +MONDO:0044765 steroid-resistant nephrotic syndrome 01-disease-subtype +MONDO:0044782 esophageal ulcer 01-disease-subtype +MONDO:0044784 myxoma 02-disease-root +MONDO:0044785 desmoplastic melanoma 01-disease-subtype +MONDO:0044787 nasal cavity and paranasal sinus squamous cell carcinoma 01-disease-subtype +MONDO:0044791 combined hepatocellular carcinoma and cholangiocarcinoma 01-disease-subtype +MONDO:0044792 large congenital melanocytic nevus 02-disease-root +MONDO:0044793 spitz nevus 01-disease-subtype +MONDO:0044794 benign melanocytic skin nevus 02-disease-root +MONDO:0044807 inherited dystonia 02-disease-root +MONDO:0044877 paraneoplastic cerebellar degeneration 02-disease-root +MONDO:0044881 hematopoietic and lymphoid cell neoplasm 03-disease-area +MONDO:0044887 central nervous system non-hodgkin lymphoma 01-disease-subtype +MONDO:0044889 high grade B-cell lymphoma 01-disease-subtype +MONDO:0044903 myelofibrosis 02-disease-root +MONDO:0044915 salivary duct carcinoma 01-disease-subtype +MONDO:0044916 extrarenal rhabdoid tumor 01-disease-subtype +MONDO:0044917 T-lymphoblastic lymphoma 01-disease-subtype +MONDO:0044919 malignant renal pelvis neoplasm 03-disease-area +MONDO:0044925 oral cavity carcinoma 03-disease-area +MONDO:0044926 oropharyngeal carcinoma 01-disease-subtype +MONDO:0044937 rectal carcinoma 03-disease-area +MONDO:0044964 oral cavity mucoepidermoid carcinoma 01-disease-subtype +MONDO:0044970 mitochondrial disease 03-disease-area +MONDO:0044972 eosinophil disorder 03-disease-area +MONDO:0044983 benign lipomatous neoplasm 03-disease-area +MONDO:0044986 lymphoid system disorder 03-disease-area +MONDO:0044991 upper digestive tract disorder 03-disease-area +MONDO:0044992 mouth mucosa disorder 03-disease-area +MONDO:0044993 sympathetic nervous system disorder 03-disease-area +MONDO:0044995 parasympathetic nervous system disorder 03-disease-area +MONDO:0044996 cerebral cortex disorder 03-disease-area +MONDO:0045001 cardiac ventricle disorder 03-disease-area +MONDO:0045002 vertebral disorder 03-disease-area +MONDO:0045003 scrotal disorder 02-disease-root +MONDO:0045008 cholesterol metabolism disease 02-disease-root +MONDO:0045010 glycoprotein metabolism disease 03-disease-area +MONDO:0045011 keratinization disease 03-disease-area +MONDO:0045012 steroid metabolism disease 03-disease-area +MONDO:0045014 tetrahydrobiopterin metabolic process disease 01-disease-subtype +MONDO:0045015 carbohydrate transport disease 03-disease-area +MONDO:0045016 cholesterol catabolic process disease 01-disease-subtype +MONDO:0045017 cholesterol biosynthetic process disease 01-disease-subtype +MONDO:0045018 creatine biosynthetic process disease 02-disease-root +MONDO:0045020 glycine metabolism disease 02-disease-root +MONDO:0045022 disorder of organic acid metabolism 03-disease-area +MONDO:0045023 acquired adrenogenital syndrome 02-disease-root +MONDO:0045024 cancer or benign tumor 03-disease-area +MONDO:0045032 congenital secretory diarrhea 01-disease-subtype +MONDO:0045033 opportunistic systemic mycosis 02-disease-root +MONDO:0045043 disorder of uterine broad ligament 02-disease-root +MONDO:0045044 ligament disorder 03-disease-area +MONDO:0045046 inherited thyroid metabolism disease 03-disease-area +MONDO:0045048 toxemia of pregnancy 01-disease-subtype +MONDO:0045050 nuclear cataract 01-disease-subtype +MONDO:0045054 cancer-related condition 02-disease-root +MONDO:0045056 grade II meningioma 01-disease-subtype +MONDO:0045058 ACTH-producing pituitary gland neoplasm 03-disease-area +MONDO:0045063 major salivary gland adenoid cystic carcinoma 01-disease-subtype +MONDO:0045068 minor salivary gland adenoid cystic carcinoma 01-disease-subtype +MONDO:0045069 minor salivary gland carcinoma 01-disease-subtype +MONDO:0045070 digestive system melanoma 01-disease-subtype +MONDO:0045072 ectopic hormone secretion syndrome associated with neoplasia 02-disease-root +MONDO:0049221 myopia 26, X-linked, female-limited 02-disease-root +MONDO:0054559 congenital disorder of glycosylation, type IIq 01-disease-subtype +MONDO:0054565 short-rib thoracic dysplasia 17 with or without polydactyly 01-disease-subtype +MONDO:0054591 Stankiewicz-Isidor syndrome 01-disease-subtype +MONDO:0054636 Skraban-Deardorff syndrome 02-disease-root +MONDO:0054691 immunodeficiency, common variable, 14 01-disease-subtype +MONDO:0054695 myopathy, centronuclear, 6, with fiber-type disproportion 01-disease-subtype +MONDO:0054699 proteasome-associated autoinflammatory syndrome 3 01-disease-subtype +MONDO:0054700 proteasome-associated autoinflammatory syndrome 2 01-disease-subtype +MONDO:0054701 Kleefstra syndrome 2 01-disease-subtype +MONDO:0054732 spermatogenic failure 28 01-disease-subtype +MONDO:0054733 spermatogenic failure 29 01-disease-subtype +MONDO:0054741 combined oxidative phosphorylation deficiency 34 02-disease-root +MONDO:0054742 combined oxidative phosphorylation deficiency 35 02-disease-root +MONDO:0054743 polycystic liver disease 3 with or without kidney cysts 01-disease-subtype +MONDO:0054748 Fanconi anemia, complementation group S 01-disease-subtype +MONDO:0054750 amyotrophic lateral sclerosis, susceptibility to, 24 01-disease-subtype +MONDO:0054754 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 01-disease-subtype +MONDO:0054764 neurodegeneration with brain iron accumulation 8 01-disease-subtype +MONDO:0054781 combined oxidative phosphorylation deficiency 36 02-disease-root +MONDO:0054782 leukodystrophy, hypomyelinating, 15 02-disease-root +MONDO:0054785 multiple mitochondrial dysfunctions syndrome 6 01-disease-subtype +MONDO:0054794 hydrocephalus, congenital, 3, with brain anomalies 01-disease-subtype +MONDO:0054801 erythrocytosis, familial, 6 01-disease-subtype +MONDO:0054813 Ehlers-Danlos syndrome, classic-like, 2 01-disease-subtype +MONDO:0054817 leukodystrophy, hypomyelinating, 17 02-disease-root +MONDO:0054833 charcot-marie-tooth disease, axonal, type 2DD 01-disease-subtype +MONDO:0054837 intellectual disability, autosomal dominant 57 01-disease-subtype +MONDO:0054842 polycystic kidney disease 6 with or without polycystic liver disease 01-disease-subtype +MONDO:0054845 developmental and epileptic encephalopathy, 66 01-disease-subtype +MONDO:0054852 peeling skin syndrome 6 01-disease-subtype +MONDO:0054860 hearing loss, autosomal recessive 110 01-disease-subtype +MONDO:0054865 encephalopathy due to mitochondrial and peroxisomal fission defect 02-disease-root +MONDO:0056797 neurodevelopmental disorder with midbrain and hindbrain malformations 02-disease-root +MONDO:0056799 synovium disorder 03-disease-area +MONDO:0056802 synovial bursa disorder 02-disease-root +MONDO:0056803 sulfur metabolism disease 03-disease-area +MONDO:0056804 benign neoplasm of peripheral nervous system 03-disease-area +MONDO:0056806 non-small cell squamous lung carcinoma 01-disease-subtype +MONDO:0056815 liver adenosquamous carcinoma 01-disease-subtype +MONDO:0056819 nasal cavity and paranasal sinus carcinoma 02-disease-root +MONDO:0056820 nasal cavity and paranasal sinus neoplasm 03-disease-area +MONDO:0060457 autoinflammation with arthritis and dyskeratosis 02-disease-root +MONDO:0060490 neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies 02-disease-root +MONDO:0060491 neurodevelopmental disorder with involuntary movements 02-disease-root +MONDO:0060502 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies 02-disease-root +MONDO:0060507 retinal dystrophy with or without macular staphyloma 02-disease-root +MONDO:0060510 Cohen-Gibson syndrome 02-disease-root +MONDO:0060527 maleylacetoacetate isomerase deficiency 02-disease-root +MONDO:0060532 congenital heart defects and skeletal malformations syndrome 02-disease-root +MONDO:0060533 microcephaly, short stature, and limb abnormalities 02-disease-root +MONDO:0060549 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay 02-disease-root +MONDO:0060551 cerebellar atrophy, developmental delay, and seizures 02-disease-root +MONDO:0060554 vertebral, cardiac, renal, and limb defects syndrome 1 01-disease-subtype +MONDO:0060555 vertebral, cardiac, renal, and limb defects syndrome 2 01-disease-subtype +MONDO:0060556 joint laxity, short stature, and myopia 02-disease-root +MONDO:0060577 neurodevelopmental disorder with microcephaly, ataxia, and seizures 02-disease-root +MONDO:0060578 neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures 02-disease-root +MONDO:0060582 auditory neuropathy-optic atrophy syndrome 02-disease-root +MONDO:0060583 platelet abnormalities with eosinophilia and immune-mediated inflammatory disease 02-disease-root +MONDO:0060589 facial palsy, congenital, with ptosis and velopharyngeal dysfunction 02-disease-root +MONDO:0060591 immunodeficiency, developmental delay, and hypohomocysteinemia 02-disease-root +MONDO:0060596 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 02-disease-root +MONDO:0060611 combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia 02-disease-root +MONDO:0060622 neurodevelopmental disorder with severe motor impairment and absent language 02-disease-root +MONDO:0060624 neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 02-disease-root +MONDO:0060627 glycosylphosphatidylinositol biosynthesis defect 15 02-disease-root +MONDO:0060631 Alkuraya-Kucinskas syndrome 02-disease-root +MONDO:0060640 neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy 02-disease-root +MONDO:0060641 neurodevelopmental disorder with or without seizures and gait abnormalities 02-disease-root +MONDO:0060642 neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features 02-disease-root +MONDO:0060650 Leber congenital amaurosis with early-onset deafness 01-disease-subtype +MONDO:0060663 congenital heart defects, multiple types, 5 01-disease-subtype +MONDO:0060664 neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities 02-disease-root +MONDO:0060666 hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome 02-disease-root +MONDO:0060702 spondyloepimetaphyseal dysplasia, di rocco type 01-disease-subtype +MONDO:0060704 neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures 02-disease-root +MONDO:0060707 Ververi-Brady syndrome 02-disease-root +MONDO:0060711 Jaberi-Elahi syndrome 02-disease-root +MONDO:0060713 deafness, congenital heart defects, and posterior embryotoxon 02-disease-root +MONDO:0060720 congenital disorder of glycosylation with defective fucosylation 02-disease-root +MONDO:0060724 glycosylphosphatidylinositol biosynthesis defect 17 02-disease-root +MONDO:0060729 protoporphyria, erythropoietic, 2 01-disease-subtype +MONDO:0060733 humerofemoral hypoplasia with radiotibial ray deficiency 02-disease-root +MONDO:0060745 intellectual developmental disorder with or without epilepsy or cerebellar ataxia 02-disease-root +MONDO:0060752 neurodevelopmental disorder with spasticity and poor growth 02-disease-root +MONDO:0060758 spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits 01-disease-subtype +MONDO:0060759 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 02-disease-root +MONDO:0060760 intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 02-disease-root +MONDO:0060761 neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum 02-disease-root +MONDO:0060763 intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities 01-disease-subtype +MONDO:0060765 fibroepithelial polyp 02-disease-root +MONDO:0060766 anal polyp 01-disease-subtype +MONDO:0060779 acquired Fanconi syndrome 01-disease-subtype +MONDO:0100000 MED12-related intellectual disability syndrome 02-disease-root +MONDO:0100016 early-onset generalized dystonia 01-disease-subtype +MONDO:0100017 pityriasis rubra pilaris 02-disease-root +MONDO:0100022 neonatal/infantile epilepsy syndrome 01-disease-subtype +MONDO:0100030 adolescent/adult-onset epilepsy syndrome 01-disease-subtype +MONDO:0100033 metabolic epilepsy 01-disease-subtype +MONDO:0100035 structural epilepsy 01-disease-subtype +MONDO:0100036 variable age onset epilepsy 01-disease-subtype +MONDO:0100038 complex neurodevelopmental disorder 03-disease-area +MONDO:0100039 CDKL5 disorder 02-disease-root +MONDO:0100040 FOXG1 disorder 01-disease-subtype +MONDO:0100053 anaphylaxis 02-disease-root +MONDO:0100054 idiopathic anaphylaxis 01-disease-subtype +MONDO:0100058 hypervalinemia and hyperleucine-isoleucinemia 01-disease-subtype +MONDO:0100061 PRPS1 deficiency disorder 02-disease-root +MONDO:0100062 developmental and epileptic encephalopathy 02-disease-root +MONDO:0100064 tyrosine hydroxylase deficiency 01-disease-subtype +MONDO:0100069 hearing impairment and infertile male syndrome 02-disease-root +MONDO:0100070 neuroendocrine disorder 03-disease-area +MONDO:0100080 cardioectodermal syndrome 02-disease-root +MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 01-disease-subtype +MONDO:0100084 alpha-actinopathy 01-disease-subtype +MONDO:0100087 familial Alzheimer disease 01-disease-subtype +MONDO:0100089 GATA1-Related X-Linked Cytopenia 02-disease-root +MONDO:0100091 inherited pseudoxanthoma elasticum 01-disease-subtype +MONDO:0100095 neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures 02-disease-root +MONDO:0100096 COVID-19 02-disease-root +MONDO:0100100 SELENON-related myopathy 01-disease-subtype +MONDO:0100101 fetal akinesia deformation sequence 1 01-disease-subtype +MONDO:0100108 TPM3-related myopathy 01-disease-subtype +MONDO:0100112 acyl-CoA binding domain containing protein 5 deficiency 01-disease-subtype +MONDO:0100114 dry age related macular degeneration 01-disease-subtype +MONDO:0100116 Middle East respiratory syndrome 01-disease-subtype +MONDO:0100120 vector-borne disease 03-disease-area +MONDO:0100121 SCN4A-related myopathy, autosomal recessive 01-disease-subtype +MONDO:0100124 NAA10-related syndrome 02-disease-root +MONDO:0100126 P5CS deficiency 01-disease-subtype +MONDO:0100130 adult acute respiratory distress syndrome 01-disease-subtype +MONDO:0100131 pediatric acute respiratory distress syndrome 01-disease-subtype +MONDO:0100133 mitochondrial complex I deficiency 02-disease-root +MONDO:0100137 telomere syndrome 03-disease-area +MONDO:0100146 ATP6AP2-related disorder 02-disease-root +MONDO:0100147 SATB2 associated disorder 02-disease-root +MONDO:0100148 X-linked complex neurodevelopmental disorder 03-disease-area +MONDO:0100150 RYR1-related myopathy 01-disease-subtype +MONDO:0100152 DKC1-related disorder 01-disease-subtype +MONDO:0100157 Imerslund-Grasbeck syndrome type 2 01-disease-subtype +MONDO:0100164 permanent neonatal diabetes mellitus 02-disease-root +MONDO:0100172 intellectual disability, autosomal dominant 03-disease-area +MONDO:0100175 TTN-related myopathy 03-disease-area +MONDO:0100176 AP-4 deficiency syndrome 02-disease-root +MONDO:0100184 GTP cyclohydrolase I deficiency 01-disease-subtype +MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia 01-disease-subtype +MONDO:0100189 apolipoprotein A-I deficiency 02-disease-root +MONDO:0100194 pregnancy associated osteoporosis 01-disease-subtype +MONDO:0100195 X-linked intellectual disability with hypopituitarism 02-disease-root +MONDO:0100196 TPM2-related myopathy 01-disease-subtype +MONDO:0100210 growth hormone insensitivity syndrome with immune dysregulation 02-disease-root +MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive 01-disease-subtype +MONDO:0100212 IFAP syndrome 02-disease-root +MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome 01-disease-subtype +MONDO:0100214 Rajab interstitial lung disease with brain calcifications 02-disease-root +MONDO:0100215 Rajab interstitial lung disease with brain calcifications 1 01-disease-subtype +MONDO:0100218 arthrogryposis multiplex congenita 5 01-disease-subtype +MONDO:0100219 growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant 01-disease-subtype +MONDO:0100220 Rajab interstitial lung disease with brain calcifications 2 01-disease-subtype +MONDO:0100221 IFAP syndrome 2 01-disease-subtype +MONDO:0100223 mitochondrial complex I deficiency, nuclear type 02-disease-root +MONDO:0100225 collagen 6-related myopathy 02-disease-root +MONDO:0100228 LAMA2-related muscular dystrophy 01-disease-subtype +MONDO:0100234 paroxysmal familial ventricular fibrillation 01-disease-subtype +MONDO:0100237 inherited cutis laxa 03-disease-area +MONDO:0100238 inherited Fanconi renotubular syndrome 02-disease-root +MONDO:0100239 inherited hypertrophic pyloric stenosis 02-disease-root +MONDO:0100240 inherited thrombophilia 02-disease-root +MONDO:0100241 inherited thrombocytopenia 02-disease-root +MONDO:0100247 multiple congenital anomalies-hypotonia-seizures syndrome 02-disease-root +MONDO:0100249 46,XX testicular disorder of sex development 02-disease-root +MONDO:0100253 Roberts-SC phocomelia syndrome 02-disease-root +MONDO:0100255 adenosine kinase deficiency 01-disease-subtype +MONDO:0100257 peroxisomal single enzyme/protein defect 03-disease-area +MONDO:0100258 phytanoyl-CoA hydroxylase deficiency 01-disease-subtype +MONDO:0100259 peroxisome biogenesis disorder due to PEX1 defect 01-disease-subtype +MONDO:0100263 peroxisome biogenesis disorder due to PEX6 defect 01-disease-subtype +MONDO:0100264 peroxisome biogenesis disorder due to PEX10 defect 01-disease-subtype +MONDO:0100265 peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain 01-disease-subtype +MONDO:0100266 peroxisome biogenesis disorder due to PEX12 defect 01-disease-subtype +MONDO:0100272 peroxisome biogenesis disorder due to PEX7 defect 01-disease-subtype +MONDO:0100273 glyceronephosphate O-acyltransferase deficiency 01-disease-subtype +MONDO:0100274 alkylglycerone-phosphate synthase deficiency 01-disease-subtype +MONDO:0100275 fatty acyl-CoA reductase defects 01-disease-subtype +MONDO:0100276 disorder of defective peroxisomal and mitochondrial fission 02-disease-root +MONDO:0100277 disorder of peroxisomal alpha oxidation 02-disease-root +MONDO:0100278 alanine glyoxylate aminotransferase deficiency 01-disease-subtype +MONDO:0100283 overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes 03-disease-area +MONDO:0100284 X-linked intellectual disability 03-disease-area +MONDO:0100289 Goldmann-Favre syndrome 02-disease-root +MONDO:0100294 mitochondrial complex II deficiency, nuclear type 1 01-disease-subtype +MONDO:0100296 Olmsted syndrome 1 01-disease-subtype +MONDO:0100306 disorder of defective peroxisome oxidative status 02-disease-root +MONDO:0100308 atactic disorder 03-disease-area +MONDO:0100310 hereditary cerebellar ataxia 03-disease-area +MONDO:0100318 SARS-CoV-2-related disease 03-disease-area +MONDO:0100320 post-COVID-19 disorder 02-disease-root +MONDO:0100321 viral disease or post-viral disorder 03-disease-area +MONDO:0100322 non-Zellweger spectrum disorder 01-disease-subtype +MONDO:0100325 odontochondrodysplasia 1 01-disease-subtype +MONDO:0100326 Glanzmann thrombasthenia 02-disease-root +MONDO:0100327 hypercholanemia, familial 02-disease-root +MONDO:0100328 microcephaly, epilepsy, and diabetes syndrome 02-disease-root +MONDO:0100329 primary viral infectious disease 03-disease-area +MONDO:0100330 disease arising from reactivation of latent virus 03-disease-area +MONDO:0100336 infectious disease or post-infectious disorder 03-disease-area +MONDO:0100337 SEC61A1 deficiency 02-disease-root +MONDO:0100339 Friedreich ataxia 02-disease-root +MONDO:0100342 malignant glioma 03-disease-area +MONDO:0100343 antenatal Bartter syndrome 01-disease-subtype +MONDO:0100348 neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities 02-disease-root +MONDO:0100349 COACH syndrome 02-disease-root +MONDO:0100350 neuronopathy, distal hereditary motor, type 5 01-disease-subtype +MONDO:0100352 episodic kinesigenic dyskinesia 1 01-disease-subtype +MONDO:0100354 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 01-disease-subtype +MONDO:0100358 ectodermal dysplasia WNT10A related 02-disease-root +MONDO:0100365 mucopolysaccharidosis or mucopolysaccharidosis-like disorder 03-disease-area +MONDO:0100372 disorder of peroxisomal transporter 02-disease-root +MONDO:0100373 acute myeloid leukemia, inv(16)(p13.1;q22) 01-disease-subtype +MONDO:0100374 acute myeloid leukemia, t(16;16)(p13.1;q22) 01-disease-subtype +MONDO:0100375 acute myeloid leukemia, t(15;17)(q24;q21) 01-disease-subtype +MONDO:0100376 acute myeloid leukemia, t(9;11)(p21.3;q23.3) 01-disease-subtype +MONDO:0100377 acute myeloid leukemia, t(10;11)(p12;q23) 01-disease-subtype +MONDO:0100378 acute myeloid leukemia, t(10;11)(p11.2;q23) 01-disease-subtype +MONDO:0100379 acute myeloid leukemia, t(1;11)(q21;q23) 01-disease-subtype +MONDO:0100380 acute myeloid leukemia, t(4;11)(q21;q23) 01-disease-subtype +MONDO:0100381 acute myeloid leukemia, t(6;11)(q27;q23) 01-disease-subtype +MONDO:0100382 acute myeloid leukemia, t(6;9)(p23;q34.1) 01-disease-subtype +MONDO:0100383 acute myeloid leukemia, t(11;19)(q23;p13) 01-disease-subtype +MONDO:0100384 acute myeloid leukemia, t(11;19)(q23;p13.1) 01-disease-subtype +MONDO:0100385 acute myeloid leukemia, t(11;19)(q23.3;p13.3) 01-disease-subtype +MONDO:0100386 acute myeloid leukemia, t(v;11q23.3) 01-disease-subtype +MONDO:0100387 acute myeloid leukemia, Monosomy 7 01-disease-subtype +MONDO:0100388 acute myeloid leukemia, Monosomy 5 01-disease-subtype +MONDO:0100389 acute myeloid leukemia, Trisomy 8 01-disease-subtype +MONDO:0100390 acute myeloid leukemia, der12p 01-disease-subtype +MONDO:0100391 acute myeloid leukemia, t(2;12) 01-disease-subtype +MONDO:0100392 acute myeloid leukemia, t(11;17) 01-disease-subtype +MONDO:0100393 acute myeloid leukemia, t(8;16) 01-disease-subtype +MONDO:0100394 acute myeloid leukemia, t(1;22) 01-disease-subtype +MONDO:0100395 acute myeloid leukemia, t(5;11)(q35;p15) 01-disease-subtype +MONDO:0100396 acute myeloid leukemia, t(7;12)(q36;p13) 01-disease-subtype +MONDO:0100397 acute myeloid leukemia, t(9;22)(q34.1;q11.2) 01-disease-subtype +MONDO:0100398 acute myeloid leukemia, inv(3)(q21.3;q26.2) 01-disease-subtype +MONDO:0100399 acute myeloid leukemia, t(3;3)(q21.3;q26.2) 01-disease-subtype +MONDO:0100400 acute myeloid leukemia, t(3;12)(q23;p12.3) 01-disease-subtype +MONDO:0100401 acute myeloid leukemia, del(5q31-q32) 01-disease-subtype +MONDO:0100402 acute myeloid leukemia, del(13q14-q21) 01-disease-subtype +MONDO:0100403 acute myeloid leukemia, loss of chromosome 17p 01-disease-subtype +MONDO:0100404 acute myeloid leukemia, MLL gene rearrangement 01-disease-subtype +MONDO:0100405 acute myeloid leukemia, Non-KMT2A MLLT10 rearrangement positive 01-disease-subtype +MONDO:0100406 acute myeloid leukemia, inv(16)(p13.3;q24.3) 01-disease-subtype +MONDO:0100407 acute myeloid leukemia, t(11;15)(p15;q35) 01-disease-subtype +MONDO:0100408 acute myeloid leukemia, t(16;21)(q24;q22) 01-disease-subtype +MONDO:0100409 acute myeloid leukemia, t(3;5)(q25;q34) 01-disease-subtype +MONDO:0100410 acute myeloid leukemia, t(16;21)(p11;q22) 01-disease-subtype +MONDO:0100412 acute myeloid leukemia, monoallelic CEBPA gene mutation 01-disease-subtype +MONDO:0100413 acute myeloid leukemia, biallelic CEBPA gene mutation 01-disease-subtype +MONDO:0100414 acute myeloid leukemia, CEBPA gene mutation 01-disease-subtype +MONDO:0100415 acute myeloid leukemia, FLT3 internal tandem duplication 01-disease-subtype +MONDO:0100416 acute myeloid leukemia, FLT3 tyrosine kinase domain point mutation 01-disease-subtype +MONDO:0100417 acute myeloid leukemia, WT1 gene mutation 01-disease-subtype +MONDO:0100418 acute myeloid leukemia, KIT exon 17 mutation 01-disease-subtype +MONDO:0100419 acute myeloid leukemia, KIT exon 8 mutation 01-disease-subtype +MONDO:0100420 acute myeloid leukemia, KIT gene mutation 01-disease-subtype +MONDO:0100421 acute myeloid leukemia, GATA1 gene mutation 01-disease-subtype +MONDO:0100422 acute myeloid leukemia, RUNX1 gene mutation 01-disease-subtype +MONDO:0100423 acute myeloid leukemia, PTPN11 gene mutation 01-disease-subtype +MONDO:0100424 acute myeloid leukemia, NRAS gene mutation 01-disease-subtype +MONDO:0100425 acute myeloid leukemia, KRAS gene mutation 01-disease-subtype +MONDO:0100431 migraine without aura 01-disease-subtype +MONDO:0100443 RDH5-related retinopathy 02-disease-root +MONDO:0100444 RLBP1-related retinopathy 02-disease-root +MONDO:0100449 FLVCR1-related retinopathy with or without ataxia 01-disease-subtype +MONDO:0100450 CAPN5-related vitreoretinopathy 02-disease-root +MONDO:0100455 neonatal-onset developmental and epileptic encephalopathy 01-disease-subtype +MONDO:0100463 methylmalonic aciduria and/or homocystinuria, cblD type 01-disease-subtype +MONDO:0600001 glutaminase deficiency 01-disease-subtype +MONDO:0600002 hemorrhagic fever 02-disease-root +MONDO:0600003 bacterial hemorrhagic fever 01-disease-subtype +MONDO:0600009 severe hypophosphatasia 01-disease-subtype +MONDO:0600011 mild hypophosphatasia 01-disease-subtype +MONDO:0600023 idiopathic inflammatory myopathy 03-disease-area +MONDO:0600030 B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) 01-disease-subtype +MONDO:0700000 ALG9-associated autosomal dominant polycystic kidney disease 01-disease-subtype +MONDO:0700002 ATP1A3-associated neurological disorder 02-disease-root +MONDO:0700003 obstetric disorder 03-disease-area +MONDO:0700008 chromosome 1 disorder 02-disease-root +MONDO:0700009 chromosome 2 disorder 03-disease-area +MONDO:0700010 chromosome 3 disorder 02-disease-root +MONDO:0700011 chromosome 4 disorder 02-disease-root +MONDO:0700012 chromosome 5 disorder 02-disease-root +MONDO:0700013 chromosome 6 disorder 02-disease-root +MONDO:0700014 chromosome 7 disorder 02-disease-root +MONDO:0700015 chromosome 8 disorder 02-disease-root +MONDO:0700016 chromosome 9 disorder 02-disease-root +MONDO:0700017 chromosome 10 disorder 02-disease-root +MONDO:0700018 chromosome 11 disorder 02-disease-root +MONDO:0700019 chromosome 12 disorder 02-disease-root +MONDO:0700020 chromosome 13 disorder 02-disease-root +MONDO:0700021 chromosome 14 disorder 02-disease-root +MONDO:0700022 chromosome 15 disorder 02-disease-root +MONDO:0700023 chromosome 16 disorder 03-disease-area +MONDO:0700024 chromosome 19 disorder 02-disease-root +MONDO:0700025 chromosome 20 disorder 02-disease-root +MONDO:0700026 chromosome 22 disorder 02-disease-root +MONDO:0700027 chromosome X disorder 03-disease-area +MONDO:0700028 chromosome Y disorder 02-disease-root +MONDO:0700029 partial duplication of chromosome 13 01-disease-subtype +MONDO:0700031 mosaic trisomy 18 01-disease-subtype +MONDO:0700034 mosaic trisomy 13 01-disease-subtype +MONDO:0700043 syndrome caused by partial chromosomal duplication of the short arm of chromosome 9 01-disease-subtype +MONDO:0700055 KIF1A related neurological disorder 02-disease-root +MONDO:0700057 neurological pain disorder 03-disease-area +MONDO:0700064 aneuploidy 03-disease-area +MONDO:0700065 trisomy 03-disease-area +MONDO:0700066 myopathy caused by variation in FKRP 01-disease-subtype +MONDO:0700067 myopathy caused by variation in FKTN 02-disease-root +MONDO:0700068 myopathy caused by variation in POMGNT1 01-disease-subtype +MONDO:0700069 myopathy caused by variation in POMGNT2 02-disease-root +MONDO:0700070 myopathy caused by variation in POMT1 02-disease-root +MONDO:0700071 myopathy caused by variation in POMT2 02-disease-root +MONDO:0700075 congenital muscular dystrophy caused by variation in POMGNT2 01-disease-subtype +MONDO:0700084 myopathy caused by variation in GMPPB 02-disease-root +MONDO:0700085 pentasomy 02-disease-root +MONDO:0700086 uniparental disomy 03-disease-area +MONDO:0700087 Usher syndrome type 1B 01-disease-subtype +MONDO:0700088 paroxysmal nonkinesigenic dyskinesia 01-disease-subtype +MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 01-disease-subtype +MONDO:0700091 ring chromosome disorder 03-disease-area +MONDO:0700092 neurodevelopmental disorder 03-disease-area +MONDO:0700120 BAFopathy 02-disease-root +MONDO:0700124 chromosome 21 disorder 02-disease-root +MONDO:0700125 chromosome 18 disorder 02-disease-root +MP:0001845 inflammation 04-non-disease +MP:0001914 hemorrhage 04-non-disease +NCIT:C117245 decreased attention 02-disease-root +NCIT:C74532 nervousness 02-disease-root +NCIT:C95746 sleepiness 02-disease-root +OBA:2001000 age of onset of Alzheimer disease 04-non-disease +OBA:2001001 age of onset of asthma 04-non-disease +OBA:2001002 age of onset of urinary bladder carcinoma 04-non-disease +OBA:2001004 age of onset of cataract 04-non-disease +OBA:2001007 age of onset of hyperlipidemia 04-non-disease +OBA:2001008 age of onset of osteoarthritis 04-non-disease +OBA:2001009 age of onset of Parkinson disease 04-non-disease +OBA:2001010 age of onset of essential hypertension 04-non-disease +OBA:2001011 age of onset of schizophrenia 04-non-disease +OBA:2001012 age of onset of type 1 diabetes mellitus 04-non-disease +OBA:2001013 age of onset of type 2 diabetes mellitus 04-non-disease +OBA:2001015 age of onset of childhood onset asthma 04-non-disease +OBA:2001016 age of onset of alcohol dependence 04-non-disease +OBA:2001017 age of onset of allergic disease 04-non-disease +OBA:2001018 age of onset of amyotrophic lateral sclerosis 04-non-disease +OBA:2001019 age of onset of bipolar disorder 04-non-disease +OBA:2001020 age of onset of Buruli ulcer disease 04-non-disease +OBA:2001022 age of onset of frontotemporal dementia 04-non-disease +OBA:2001024 age of onset of Huntington disease 04-non-disease +OBA:2001026 age of onset of migraine disorder 04-non-disease +OBA:2001027 age of onset of migraine with aura 04-non-disease +OBA:2001028 age of onset of migraine without aura, susceptibility to, 4 04-non-disease +OBA:2001029 age of onset of multiple sclerosis 04-non-disease +OBA:2001030 age of onset of myopia 04-non-disease +OBA:2001031 age of onset of refractive error 04-non-disease +OBA:2001032 age of onset of narcolepsy-cataplexy syndrome 04-non-disease +OBA:2001033 age of onset of coronary atherosclerosis 04-non-disease +OBI:0001620 latitude 04-non-disease +OBI:0001621 longitude 04-non-disease +OBI:1110021 infect 04-non-disease +OBI:1110122 pathological process 04-non-disease +OGMS:0000063 disease course 04-non-disease +Orphanet:100 Ataxia-telangiectasia 02-disease-root +Orphanet:1000 Ocular albinism with late-onset sensorineural deafness 01-disease-subtype +Orphanet:100006 Hereditary cerebral hemorrhage with amyloidosis, Dutch type 01-disease-subtype +Orphanet:100008 Hereditary cerebral hemorrhage with amyloidosis, Icelandic type 01-disease-subtype +Orphanet:100011 Lissencephaly with cerebellar hypoplasia type A 01-disease-subtype +Orphanet:100012 Lissencephaly with cerebellar hypoplasia type B 01-disease-subtype +Orphanet:100013 Lissencephaly with cerebellar hypoplasia type C 01-disease-subtype +Orphanet:100014 Lissencephaly with cerebellar hypoplasia type D 01-disease-subtype +Orphanet:100015 Lissencephaly with cerebellar hypoplasia type E 01-disease-subtype +Orphanet:100016 Lissencephaly with cerebellar hypoplasia type F 01-disease-subtype +Orphanet:100031 Hypoplastic amelogenesis imperfecta 01-disease-subtype +Orphanet:100032 Hypocalcified amelogenesis imperfecta 01-disease-subtype +Orphanet:100033 Hypomaturation amelogenesis imperfecta 01-disease-subtype +Orphanet:100034 Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism 01-disease-subtype +Orphanet:100043 Autosomal dominant intermediate Charcot-Marie-Tooth disease type A 01-disease-subtype +Orphanet:100044 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B 01-disease-subtype +Orphanet:100045 Autosomal dominant intermediate Charcot-Marie-Tooth disease type C 01-disease-subtype +Orphanet:100046 Autosomal dominant intermediate Charcot-Marie-Tooth disease type D 01-disease-subtype +Orphanet:100047 Esophageal duplication cyst 01-disease-subtype +Orphanet:100048 Tubular duplication of the esophagus 01-disease-subtype +Orphanet:100049 Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies 01-disease-subtype +Orphanet:100050 Hereditary angioedema type 1 01-disease-subtype +Orphanet:100051 Hereditary angioedema type 2 01-disease-subtype +Orphanet:100054 Hereditary angioedema type 3 01-disease-subtype +Orphanet:100069 Semantic dementia 01-disease-subtype +Orphanet:100070 Progressive non-fluent aphasia 01-disease-subtype +Orphanet:100071 Mosaic trisomy 3 01-disease-subtype +Orphanet:1003 Scalp defects - postaxial polydactyly 02-disease-root +Orphanet:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome 02-disease-root +Orphanet:1006 Alopecia antibody deficiency 02-disease-root +Orphanet:1008 Alopecia - epilepsy - pyorrhea - intellectual disability 02-disease-root +Orphanet:100924 Porphyria due to ALA dehydratase deficiency 01-disease-subtype +Orphanet:100932 Nuclear oculomotor paralysis 02-disease-root +Orphanet:100976 Bathing suit ichthyosis 01-disease-subtype +Orphanet:100978 Cloverleaf skull - asphyxiating thoracic dysplasia 02-disease-root +Orphanet:100979 Autosomal dominant complex spastic paraplegia 02-disease-root +Orphanet:100980 Autosomal dominant pure spastic paraplegia 01-disease-subtype +Orphanet:100981 Autosomal recessive complex spastic paraplegia 02-disease-root +Orphanet:100982 Autosomal recessive pure spastic paraplegia 01-disease-subtype +Orphanet:100984 Autosomal dominant spastic paraplegia type 3 01-disease-subtype +Orphanet:100985 Autosomal dominant spastic paraplegia type 4 01-disease-subtype +Orphanet:100986 Autosomal recessive spastic paraplegia type 5A 01-disease-subtype +Orphanet:100988 Autosomal dominant spastic paraplegia type 6 01-disease-subtype +Orphanet:100989 Autosomal dominant spastic paraplegia type 8 01-disease-subtype +Orphanet:100990 Autosomal dominant spastic paraplegia type 9 01-disease-subtype +Orphanet:100991 Autosomal dominant spastic paraplegia type 10 01-disease-subtype +Orphanet:100993 Autosomal dominant spastic paraplegia type 12 01-disease-subtype +Orphanet:100994 Autosomal dominant spastic paraplegia type 13 01-disease-subtype +Orphanet:100995 Autosomal recessive spastic paraplegia type 14 01-disease-subtype +Orphanet:100996 Autosomal recessive spastic paraplegia type 15 01-disease-subtype +Orphanet:100997 X-linked spastic paraplegia type 16 01-disease-subtype +Orphanet:100998 Autosomal dominant spastic paraplegia type 17 01-disease-subtype +Orphanet:100999 Autosomal dominant spastic paraplegia type 19 01-disease-subtype +Orphanet:101 Dentatorubral pallidoluysian atrophy 01-disease-subtype +Orphanet:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia 01-disease-subtype +Orphanet:101003 Autosomal recessive spastic paraplegia type 23 01-disease-subtype +Orphanet:101004 Autosomal recessive spastic paraplegia type 24 01-disease-subtype +Orphanet:101005 Autosomal recessive spastic paraplegia type 25 01-disease-subtype +Orphanet:101006 Autosomal recessive spastic paraplegia type 26 01-disease-subtype +Orphanet:101007 Autosomal recessive spastic paraplegia type 27 01-disease-subtype +Orphanet:101008 Autosomal recessive spastic paraplegia type 28 01-disease-subtype +Orphanet:101009 Autosomal dominant spastic paraplegia type 29 01-disease-subtype +Orphanet:101010 Autosomal recessive spastic paraplegia type 30 01-disease-subtype +Orphanet:101011 Autosomal dominant spastic paraplegia type 31 01-disease-subtype +Orphanet:101016 Romano-Ward syndrome 01-disease-subtype +Orphanet:101028 Transaldolase deficiency 01-disease-subtype +Orphanet:101029 Sub-cortical nodular heterotopia 01-disease-subtype +Orphanet:101030 Subependymal nodular heterotopia 01-disease-subtype +Orphanet:101033 Peters anomaly - cataract 01-disease-subtype +Orphanet:101041 Familial hypofibrinogenemia 01-disease-subtype +Orphanet:101042 Taussig-Bing syndrome 01-disease-subtype +Orphanet:101049 Familial hypocalciuric hypercalcemia type 2 01-disease-subtype +Orphanet:101050 Familial hypocalciuric hypercalcemia type 3 01-disease-subtype +Orphanet:101052 Microlissencephaly type B 01-disease-subtype +Orphanet:101063 Situs inversus totalis 01-disease-subtype +Orphanet:101068 Congenital stromal corneal dystrophy 01-disease-subtype +Orphanet:101070 Bilateral frontoparietal polymicrogyria 01-disease-subtype +Orphanet:101071 Unilateral hemispheric polymicrogyria 01-disease-subtype +Orphanet:101075 X-linked Charcot-Marie-Tooth disease type 1 01-disease-subtype +Orphanet:101076 X-linked Charcot-Marie-Tooth disease type 2 01-disease-subtype +Orphanet:101077 X-linked Charcot-Marie-Tooth disease type 3 01-disease-subtype +Orphanet:101078 X-linked Charcot-Marie-Tooth disease type 4 01-disease-subtype +Orphanet:101088 X-linked hyper-IgM syndrome 01-disease-subtype +Orphanet:101089 Hyper-IgM syndrome type 2 01-disease-subtype +Orphanet:101090 Hyper-IgM syndrome type 3 01-disease-subtype +Orphanet:101091 Hyper-IgM syndrome type 4 01-disease-subtype +Orphanet:101092 Hyper-IgM syndrome type 5 01-disease-subtype +Orphanet:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness 01-disease-subtype +Orphanet:101102 Charcot-Marie-Tooth disease type 2H 01-disease-subtype +Orphanet:101108 Spinocerebellar ataxia type 23 01-disease-subtype +Orphanet:101109 Spinocerebellar ataxia type 28 01-disease-subtype +Orphanet:101110 Spinocerebellar ataxia type 20 01-disease-subtype +Orphanet:101111 Spinocerebellar ataxia type 25 01-disease-subtype +Orphanet:101112 Spinocerebellar ataxia type 26 01-disease-subtype +Orphanet:101150 Autosomal recessive dopa-responsive dystonia 01-disease-subtype +Orphanet:101330 Porphyria cutanea tarda 01-disease-subtype +Orphanet:101351 Familial isolated congenital asplenia 01-disease-subtype +Orphanet:1014 Alopecia - intellectual disability - hypergonadotropic hypogonadism 02-disease-root +Orphanet:101435 Rare genetic eye disease 03-disease-area +Orphanet:101685 Rare intellectual disability without developmental anomaly 02-disease-root +Orphanet:1018 X-linked diffuse leiomyomatosis - Alport syndrome 01-disease-subtype +Orphanet:101934 Genetic cardiac rhythm disease 03-disease-area +Orphanet:101940 Rare metabolic liver disease 03-disease-area +Orphanet:101953 Rare dyslipidemia 03-disease-area +Orphanet:101957 Pituitary deficiency 03-disease-area +Orphanet:101960 Genetic chronic primary adrenal insufficiency 03-disease-area +Orphanet:101972 Combined T and B cell immunodeficiency 03-disease-area +Orphanet:101977 Immunodeficiency predominantly affecting antibody production 03-disease-area +Orphanet:101987 Constitutional neutropenia 02-disease-root +Orphanet:101988 Primary immunodeficiency due to a defect in innate immunity 03-disease-area +Orphanet:101992 Immunodeficiency due to a complement cascade protein anomaly 02-disease-root +Orphanet:1020 Early-onset autosomal dominant Alzheimer disease 01-disease-subtype +Orphanet:102009 Classic lissencephaly 01-disease-subtype +Orphanet:102010 Other syndrome with lissencephaly as a major feature 01-disease-subtype +Orphanet:102011 Lissencephaly type 3 01-disease-subtype +Orphanet:102012 Pure hereditary spastic paraplegia 01-disease-subtype +Orphanet:102013 Complex hereditary spastic paraplegia 03-disease-area +Orphanet:102014 Autosomal dominant limb-girdle muscular dystrophy 01-disease-subtype +Orphanet:102015 Autosomal recessive limb-girdle muscular dystrophy 01-disease-subtype +Orphanet:102020 Autosomal monosomy 03-disease-area +Orphanet:1021 Amaurosis - hypertrichosis 02-disease-root +Orphanet:102283 Multiple congenital anomalies/dysmorphic syndrome-intellectual disability 03-disease-area +Orphanet:1023 Congenital generalized hypertrichosis, Ambras type 01-disease-subtype +Orphanet:102373 Primary glomerular disease 03-disease-area +Orphanet:1027 Autosomal recessive amelia 02-disease-root +Orphanet:1028 Amelo-onycho-hypohidrotic syndrome 02-disease-root +Orphanet:1032 Hyperdibasic aminoaciduria type 1 01-disease-subtype +Orphanet:1034 Amniotic bands 02-disease-root +Orphanet:1035 Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria 02-disease-root +Orphanet:1037 Arthrogryposis multiplex congenita 02-disease-root +Orphanet:103907 Chronic diarrhea due to glucoamylase deficiency 01-disease-subtype +Orphanet:103908 Congenital sodium diarrhea 01-disease-subtype +Orphanet:103909 Diarrhea-vomiting due to trehalase deficiency 01-disease-subtype +Orphanet:103910 Congenital enterocyte heparan sulfate deficiency 01-disease-subtype +Orphanet:103912 Epithelio-exfoliative colitis - deafness 01-disease-subtype +Orphanet:1040 Metaphyseal anadysplasia 01-disease-subtype +Orphanet:104003 Congenital intestinal transport defect 02-disease-root +Orphanet:104004 Intestinal disease due to vitamin absorption anomaly 02-disease-root +Orphanet:104006 Congenital intestinal disease due to an enzymatic defect 02-disease-root +Orphanet:104007 Congenital enteropathy involving intestinal mucosa development 02-disease-root +Orphanet:104009 Congenital intestinal motility disorder 02-disease-root +Orphanet:104013 Metabolic disease with intestinal involvement 02-disease-root +Orphanet:104077 Myopathic intestinal pseudoobstruction 01-disease-subtype +Orphanet:104078 Unclassified intestinal pseudoobstruction 01-disease-subtype +Orphanet:1044 Anemia due to adenosine triphosphatase deficiency 01-disease-subtype +Orphanet:1046 Lethal hemolytic anemia - genital anomalies 02-disease-root +Orphanet:1048 Isolated anencephaly/exencephaly 02-disease-root +Orphanet:105 Atresia of urethra 02-disease-root +Orphanet:1052 Mosaic variegated aneuploidy syndrome 01-disease-subtype +Orphanet:1059 Blue rubber bleb nevus 02-disease-root +Orphanet:1062 Hereditary neurocutaneous angioma 01-disease-subtype +Orphanet:1063 Tufted angioma 02-disease-root +Orphanet:1064 Aniridia - renal agenesis - psychomotor retardation 01-disease-subtype +Orphanet:1065 Aniridia - cerebellar ataxia - intellectual disability 01-disease-subtype +Orphanet:1067 Aniridia - ptosis - intellectual disability - familial obesity 01-disease-subtype +Orphanet:1068 Aniridia-intellectual disability syndrome 01-disease-subtype +Orphanet:1069 Aniridia - absent patella 01-disease-subtype +Orphanet:107 BOR syndrome 01-disease-subtype +Orphanet:1071 Ankyloblepharon - ectodermal defects - cleft lip/palate 01-disease-subtype +Orphanet:1072 Ankyloblepharon filiforme adnatum - cleft palate 01-disease-subtype +Orphanet:1074 Ankyloblepharon filiforme - imperforate anus 01-disease-subtype +Orphanet:1077 Dental ankylosis 01-disease-subtype +Orphanet:1078 Thumb stiffness - brachydactyly - intellectual disability 02-disease-root +Orphanet:1083 Microlissencephaly 01-disease-subtype +Orphanet:1084 Isolated lissencephaly type 1 without known genetic defects 01-disease-subtype +Orphanet:1088 Short stature-heart defect-craniofacial anomalies syndrome 02-disease-root +Orphanet:108959 Non-syndromic esophageal malformation 02-disease-root +Orphanet:108963 Non-syndromic gastroduodenal malformation 01-disease-subtype +Orphanet:108965 Syndromic gastroduodenal malformation 01-disease-subtype +Orphanet:108967 Non-syndromic intestinal malformation 01-disease-subtype +Orphanet:108969 Syndromic intestinal malformation 01-disease-subtype +Orphanet:108971 Non-syndromic visceral malformation 02-disease-root +Orphanet:108973 Syndromic visceral malformation 02-disease-root +Orphanet:108985 Non-syndromic developmental defect of the eye 02-disease-root +Orphanet:108987 Syndromic developmental defect of the eye 03-disease-area +Orphanet:108993 Non-syndromic respiratory or mediastinal malformation 03-disease-area +Orphanet:109007 Arthrogryposis syndrome 03-disease-area +Orphanet:109011 Non-syndromic limb malformation 03-disease-area +Orphanet:1092 Renal-genital-middle ear anomalies 02-disease-root +Orphanet:1094 Anonychia - microcephaly 02-disease-root +Orphanet:11 Pentasomy X 01-disease-subtype +Orphanet:1101 Anophthalmia - megalocornea - cardiopathy - skeletal anomalies 02-disease-root +Orphanet:1104 Anophthalmia plus syndrome 02-disease-root +Orphanet:1106 Microphthalmia with limb anomalies 02-disease-root +Orphanet:1110 Aortic arch anomaly - peculiar facies - intellectual disability 02-disease-root +Orphanet:1112 Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis 02-disease-root +Orphanet:1113 Aphalangy - syndactyly - microcephaly 02-disease-root +Orphanet:1114 Circumscribed cutaneous aplasia of the vertex 02-disease-root +Orphanet:1115 Recessive aplasia cutis congenita of limbs 02-disease-root +Orphanet:1116 Aplasia cutis congenita - intestinal lymphangiectasia 01-disease-subtype +Orphanet:1117 Aplasia cutis - myopia 02-disease-root +Orphanet:1118 Fibular aplasia - ectrodactyly 01-disease-subtype +Orphanet:1120 Lung agenesis - heart defect - thumb anomalies 02-disease-root +Orphanet:1121 Radial deficiency - tibial hypoplasia 01-disease-subtype +Orphanet:1122 Ulnar hypoplasia - split foot 01-disease-subtype +Orphanet:1123 Caudal appendage - deafness 02-disease-root +Orphanet:1125 Ocular motor apraxia, Cogan type 01-disease-subtype +Orphanet:1126 Aprosencephaly cerebellar dysgenesis 01-disease-subtype +Orphanet:1129 Arachnodactyly - abnormal ossification - intellectual disability 02-disease-root +Orphanet:113 Bazex-Dupré-Christol syndrome 01-disease-subtype +Orphanet:1130 Arachnodactyly - intellectual disability - dysmorphism 02-disease-root +Orphanet:1135 Arrhinia - choanal atresia - microphthalmia 02-disease-root +Orphanet:1136 Arnold-Chiari malformation type II 01-disease-subtype +Orphanet:114 Auriculoosteodysplasia 01-disease-subtype +Orphanet:1143 Neurogenic arthrogryposis multiplex congenita 01-disease-subtype +Orphanet:1144 Arthrogryposis-like hand anomaly - sensorineural deafness 01-disease-subtype +Orphanet:1145 X-linked distal arthrogryposis multiplex congenita 01-disease-subtype +Orphanet:1146 Digitotalar dysmorphism 01-disease-subtype +Orphanet:1147 Sheldon-Hall syndrome 01-disease-subtype +Orphanet:1149 Arthrogryposis-like syndrome 01-disease-subtype +Orphanet:115 Congenital contractural arachnodactyly 01-disease-subtype +Orphanet:1150 Arthrogryposis multiplex congenita - whistling face 01-disease-subtype +Orphanet:1154 Arthrogryposis with oculomotor limitation and electroretinal anomalies 01-disease-subtype +Orphanet:1155 Arthrogryposis due to muscular dystrophy 01-disease-subtype +Orphanet:1159 Progressive pseudorheumatoid arthropathy of childhood 02-disease-root +Orphanet:1166 Congenital unilateral hypoplasia of depressor anguli oris 02-disease-root +Orphanet:1168 Ataxia - oculomotor apraxia type 1 01-disease-subtype +Orphanet:1170 Autosomal recessive cerebelloparenchymal disorder type 3 01-disease-subtype +Orphanet:1171 Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss 01-disease-subtype +Orphanet:1172 Autosomal recessive cerebellar ataxia 01-disease-subtype +Orphanet:1173 Cerebellar ataxia - hypogonadism 01-disease-subtype +Orphanet:1174 Cerebellar ataxia - ectodermal dysplasia 02-disease-root +Orphanet:117573 Syndromic anorectal malformation 03-disease-area +Orphanet:1177 Early-onset cerebellar ataxia with retained tendon reflexes 01-disease-subtype +Orphanet:1178 Ataxia - tapetoretinal degeneration 02-disease-root +Orphanet:1179 Benign paroxysmal tonic upgaze of childhood with ataxia 02-disease-root +Orphanet:118 Beta-mannosidosis 01-disease-subtype +Orphanet:1180 Ataxia - hypogonadism - choroidal dystrophy 01-disease-subtype +Orphanet:1182 Spastic ataxia with congenital miosis 01-disease-subtype +Orphanet:1185 Spinocerebellar ataxia - dysmorphism 02-disease-root +Orphanet:1186 Infantile onset spinocerebellar ataxia 01-disease-subtype +Orphanet:1187 Lethal ataxia with deafness and optic atrophy 01-disease-subtype +Orphanet:1188 Ataxia-deafness-intellectual disability syndrome 01-disease-subtype +Orphanet:119 Autosomal recessive limb-girdle muscular dystrophy type 2E 01-disease-subtype +Orphanet:1190 Atelosteogenesis type I 01-disease-subtype +Orphanet:1192 Atherosclerosis - deafness - diabetes - epilepsy - nephropathy 01-disease-subtype +Orphanet:1194 Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency 01-disease-subtype +Orphanet:1195 Congenital atransferrinemia 01-disease-subtype +Orphanet:1198 Colonic atresia 01-disease-subtype +Orphanet:1200 Choanal atresia-deafness-cardiac defects-dysmorphism syndrome 02-disease-root +Orphanet:1201 Atresia of small intestine 01-disease-subtype +Orphanet:1202 Larynx atresia 02-disease-root +Orphanet:1203 Duodenal atresia 01-disease-subtype +Orphanet:1215 Autosomal dominant optic atrophy plus syndrome 01-disease-subtype +Orphanet:1216 Autosomal dominant congenital benign spinal muscular atrophy 01-disease-subtype +Orphanet:1217 Spinal atrophy - ophthalmoplegia - pyramidal syndrome 01-disease-subtype +Orphanet:122 Birt-Hogg-Dubé syndrome 01-disease-subtype +Orphanet:1229 Congenital intrauterine infection-like syndrome 02-disease-root +Orphanet:123 Björnstad syndrome 01-disease-subtype +Orphanet:124 Blackfan-Diamond anemia 01-disease-subtype +Orphanet:1240 Metaphyseal acroscyphodysplasia 01-disease-subtype +Orphanet:1243 Best vitelliform macular dystrophy 01-disease-subtype +Orphanet:1246 Brachydactyly - nystagmus - cerebellar ataxia 02-disease-root +Orphanet:1248 Maxillonasal dysplasia 02-disease-root +Orphanet:1252 Blepharonasofacial malformation syndrome 02-disease-root +Orphanet:1256 Blepharophimosis - radioulnar synostosis 01-disease-subtype +Orphanet:1258 Blepharoptosis - cleft palate - ectrodactyly - dental anomalies 02-disease-root +Orphanet:1259 Blepharoptosis - myopia - ectopia lentis 01-disease-subtype +Orphanet:126 Blepharophimosis - epicanthus inversus - ptosis 01-disease-subtype +Orphanet:1260 Sino-auricular heart block 02-disease-root +Orphanet:1264 Tricho-retino-dento-digital syndrome 02-disease-root +Orphanet:1266 Dermato-cardio-skeletal syndrome, Borrone type 02-disease-root +Orphanet:1272 Fine-Lubinsky syndrome 02-disease-root +Orphanet:1275 Brachydactyly - elbow wrist dysplasia 02-disease-root +Orphanet:1276 Brachydactyly - arterial hypertension 01-disease-subtype +Orphanet:1277 Brachydactyly - mesomelia - intellectual disability - heart defects 02-disease-root +Orphanet:1278 Brachydactyly - preaxial hallux varus 02-disease-root +Orphanet:1292 Brachymorphism - onychodysplasia - dysphalangism 02-disease-root +Orphanet:1293 Brachyolmia 01-disease-subtype +Orphanet:1295 Brachytelephalangy - dysmorphism - Kallmann syndrome 02-disease-root +Orphanet:1297 Branchio-oculo-facial syndrome 02-disease-root +Orphanet:1299 Branchio-skeleto-genital syndrome 02-disease-root +Orphanet:13 6-pyruvoyl-tetrahydropterin synthase deficiency 01-disease-subtype +Orphanet:1300 Autosomal dominant popliteal pterygium syndrome 01-disease-subtype +Orphanet:1309 Medullary sponge kidney 02-disease-root +Orphanet:1318 Campomelia, Cumming type 01-disease-subtype +Orphanet:1319 Camptobrachydactyly 02-disease-root +Orphanet:132 Butyrylcholinesterase deficiency 01-disease-subtype +Orphanet:1325 Camptodactyly - taurinuria 02-disease-root +Orphanet:1326 Camptodactyly syndrome, Guadalajara type 2 02-disease-root +Orphanet:1327 Camptodactyly syndrome, Guadalajara type 1 02-disease-root +Orphanet:1331 Familial prostate cancer 01-disease-subtype +Orphanet:1333 Familial pancreatic carcinoma 02-disease-root +Orphanet:1334 Chronic mucocutaneous candidosis 02-disease-root +Orphanet:1335 Cantrell pentalogy 02-disease-root +Orphanet:1336 Hyperkeratosis-hyperpigmentation syndrome 01-disease-subtype +Orphanet:1338 Heart defect-tongue hamartoma-polysyndactyly syndrome 02-disease-root +Orphanet:1340 Cardiofaciocutaneous syndrome 01-disease-subtype +Orphanet:1342 Heart-hand syndrome type 3 01-disease-subtype +Orphanet:1344 Atrial stand still 01-disease-subtype +Orphanet:1345 Cardiomyopathy - cataract - hip spine disease 01-disease-subtype +Orphanet:1349 Maternally-inherited cardiomyopathy and hearing loss 01-disease-subtype +Orphanet:135 CACH syndrome 02-disease-root +Orphanet:1350 Heart-hand syndrome type 2 01-disease-subtype +Orphanet:1354 Heart defects - limb shortening 02-disease-root +Orphanet:1355 Heart defect - round face - congenital developmental delay 02-disease-root +Orphanet:1358 Carey-Fineman-Ziter syndrome 02-disease-root +Orphanet:136 CADASIL 02-disease-root +Orphanet:1361 Carnosinemia 01-disease-subtype +Orphanet:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia 01-disease-subtype +Orphanet:1368 Cataract - ataxia - deafness 02-disease-root +Orphanet:1369 Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy 01-disease-subtype +Orphanet:137 Congenital disorder of glycosylation 03-disease-area +Orphanet:1373 Cataract - aberrant oral frenula - growth delay 02-disease-root +Orphanet:1375 Cataract - hypertrichosis - intellectual disability 01-disease-subtype +Orphanet:1376 Congenital cataract - ichthyosis 01-disease-subtype +Orphanet:137608 Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus 01-disease-subtype +Orphanet:137622 Intractable diarrhea - choanal atresia - eye anomalies 02-disease-root +Orphanet:137625 Glycogen storage disease due to muscle and heart glycogen synthase deficiency 01-disease-subtype +Orphanet:137628 Cardiac anomalies - heterotaxy 01-disease-subtype +Orphanet:137631 Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis 01-disease-subtype +Orphanet:137634 Overgrowth - macrocephaly - facial dysmorphism 02-disease-root +Orphanet:137639 Leukoencephalopathy - ataxia - hypodontia - hypomyelination 01-disease-subtype +Orphanet:137653 Microcephaly - digital anomalies - intellectual disability 01-disease-subtype +Orphanet:137658 Microcephaly - intellectual disability - phalangeal and neurological anomalies 01-disease-subtype +Orphanet:137667 Capillary malformation - arteriovenous malformation 02-disease-root +Orphanet:137675 Histiocytoid cardiomyopathy 01-disease-subtype +Orphanet:137681 Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 01-disease-subtype +Orphanet:1377 Cataract-microcornea syndrome 01-disease-subtype +Orphanet:137754 Neurological conditions associated with aminoacylase 1 deficiency 01-disease-subtype +Orphanet:137776 Lethal congenital contracture syndrome type 2 01-disease-subtype +Orphanet:137783 Lethal congenital contracture syndrome type 3 01-disease-subtype +Orphanet:137831 X-linked intellectual disability - cerebellar hypoplasia 01-disease-subtype +Orphanet:137871 Laminopathy type Decaudain-Vigouroux 01-disease-subtype +Orphanet:137888 Auriculocondylar syndrome 01-disease-subtype +Orphanet:137893 Male infertility due to large-headed multiflagellar polyploid spermatozoa 01-disease-subtype +Orphanet:137898 Leukoencephalopathy with brain stem and spinal cord involvement - high lactate 01-disease-subtype +Orphanet:137902 Isolated optic nerve hypoplasia 01-disease-subtype +Orphanet:137905 Syndromic optic nerve hypoplasia 01-disease-subtype +Orphanet:137908 Hypotonia with lactic acidemia and hyperammonemia 01-disease-subtype +Orphanet:137911 Autism - facial port-wine stain 02-disease-root +Orphanet:1380 Cataract - nephropathy - encephalopathy 02-disease-root +Orphanet:138041 Pierre Robin syndrome associated with collagen disease 02-disease-root +Orphanet:138047 Pierre Robin syndrome associated with a chromosomal anomaly 02-disease-root +Orphanet:138050 Pierre Robin syndrome associated with branchial archs anomalies 02-disease-root +Orphanet:138055 Pierre Robin syndrome associated with bone disease 02-disease-root +Orphanet:138063 Syndrome associated with Pierre Robin syndrome 02-disease-root +Orphanet:138066 Pierre Robin syndrome associated with miscellaneous anomalies 02-disease-root +Orphanet:1381 Cataract - intellectual disability - anal atresia - urinary defects 02-disease-root +Orphanet:1383 Cataract - deafness - hypogonadism 02-disease-root +Orphanet:1387 Cataract - intellectual disability - hypogonadism 01-disease-subtype +Orphanet:1389 Cortical blindness - intellectual disability - polydactyly 02-disease-root +Orphanet:1390 Night blindness - skeletal anomalies - dysmorphism 02-disease-root +Orphanet:139009 Developmental anomaly of metabolic origin 03-disease-area +Orphanet:139027 Malformation syndrome with skin/mucosae involvement 03-disease-area +Orphanet:139030 Malformation syndrome with connective tissue involvement 03-disease-area +Orphanet:139039 Orofacial clefting syndrome 03-disease-area +Orphanet:1393 Cerebro-costo-mandibular syndrome 01-disease-subtype +Orphanet:139373 Recessive hereditary methemoglobinemia type 1 01-disease-subtype +Orphanet:139380 Recessive hereditary methemoglobinemia type 2 01-disease-subtype +Orphanet:139390 Isolated craniosynostosis 02-disease-root +Orphanet:139393 Syndromic craniosynostosis 03-disease-area +Orphanet:139399 Adrenomyeloneuropathy 01-disease-subtype +Orphanet:1394 Cerebro-facio-thoracic dysplasia 01-disease-subtype +Orphanet:139406 Encephalopathy due to prosaposin deficiency 02-disease-root +Orphanet:139441 Hypomyelination with atrophy of basal ganglia and cerebellum 02-disease-root +Orphanet:139444 Leukoencephalopathy with bilateral anterior temporal lobe cysts 02-disease-root +Orphanet:139447 Progressive cavitating leukoencephalopathy 02-disease-root +Orphanet:139450 Microtia - eye coloboma - imperforation of the nasolacrimal duct 02-disease-root +Orphanet:139455 Autosomal recessive bestrophinopathy 02-disease-root +Orphanet:139471 Microphthalmia with brain and digit anomalies 01-disease-subtype +Orphanet:139480 Autosomal recessive spastic paraplegia type 39 01-disease-subtype +Orphanet:139485 Autosomal recessive ataxia due to ubiquinone deficiency 01-disease-subtype +Orphanet:139491 Hemochromatosis type 4 01-disease-subtype +Orphanet:139512 Neuropathy with hearing impairment 01-disease-subtype +Orphanet:139518 Distal hereditary motor neuropathy type 1 01-disease-subtype +Orphanet:139525 Distal hereditary motor neuropathy type 2 01-disease-subtype +Orphanet:139536 Distal hereditary motor neuropathy type 5 01-disease-subtype +Orphanet:139547 Distal spinal muscular atrophy type 3 01-disease-subtype +Orphanet:139564 Hereditary sensory and autonomic neuropathy type 1B 01-disease-subtype +Orphanet:139573 Hereditary sensory and autonomic neuropathy with deafness and global delay 01-disease-subtype +Orphanet:139578 Hereditary sensory and autonomic neuropathy with spastic paraplegia 01-disease-subtype +Orphanet:139583 X-linked hereditary sensory and autonomic neuropathy with deafness 02-disease-root +Orphanet:139589 Distal hereditary motor neuropathy type 7 01-disease-subtype +Orphanet:1396 Cerebro-reno-digital syndrome 02-disease-root +Orphanet:1397 Cerebellum agenesis - hydrocephaly 02-disease-root +Orphanet:14 Abetalipoproteinemia 01-disease-subtype +Orphanet:140 Campomelic dysplasia 01-disease-subtype +Orphanet:140162 Inherited cancer-predisposing syndrome 03-disease-area +Orphanet:140436 Primary intraosseous vascular malformation 01-disease-subtype +Orphanet:140450 Hereditary motor and sensory neuropathy 03-disease-area +Orphanet:140453 Autosomal dominant hereditary demyelinating motor and sensory neuropathy 02-disease-root +Orphanet:140456 Autosomal dominant hereditary axonal motor and sensory neuropathy 02-disease-root +Orphanet:140459 Autosomal recessive hereditary demyelinating motor and sensory neuropathy 02-disease-root +Orphanet:140462 X-linked recessive hereditary axonal motor and sensory neuropathy 02-disease-root +Orphanet:140465 Autosomal dominant distal hereditary motor neuropathy 02-disease-root +Orphanet:140468 Autosomal recessive distal hereditary motor neuropathy 02-disease-root +Orphanet:140471 Hereditary sensory and autonomic neuropathy 03-disease-area +Orphanet:140474 Autosomal dominant hereditary sensory and autonomic neuropathy 02-disease-root +Orphanet:140477 Autosomal recessive hereditary sensory and autonomic neuropathy 02-disease-root +Orphanet:140481 Autosomal dominant slowed nerve conduction velocity 01-disease-subtype +Orphanet:1408 Hair defect - photosensitivity - intellectual disability 01-disease-subtype +Orphanet:1409 Woolly hair - hypotrichosis - everted lower lip - outstanding ears 01-disease-subtype +Orphanet:140905 Hyperlipidemia due to hepatic triglyceride lipase deficiency 01-disease-subtype +Orphanet:140908 Brachydactyly type B2 02-disease-root +Orphanet:140917 Stapes ankylosis with broad thumbs and toes 02-disease-root +Orphanet:140922 Autosomal recessive limb-girdle muscular dystrophy type 2J 01-disease-subtype +Orphanet:140927 Benign familial neonatal-infantile seizures 01-disease-subtype +Orphanet:140933 Linear atrophoderma of Moulin 02-disease-root +Orphanet:140941 Short stature due to primary acid-labile subunit deficiency 02-disease-root +Orphanet:140944 CLOVE syndrome 01-disease-subtype +Orphanet:140952 Syndactyly - telecanthus - anogenital and renal malformations 02-disease-root +Orphanet:140957 Autosomal dominant macrothrombocytopenia 01-disease-subtype +Orphanet:140963 Bilateral microtia - deafness - cleft palate 02-disease-root +Orphanet:140966 Palmoplantar keratoderma, Nagashima type 01-disease-subtype +Orphanet:140989 Primary central nervous system vasculitis 02-disease-root +Orphanet:140997 Orofaciodigital syndrome 02-disease-root +Orphanet:1410 Uncombable hair syndrome 01-disease-subtype +Orphanet:141000 Orofaciodigital syndrome type 11 01-disease-subtype +Orphanet:141007 Orofaciodigital syndrome type 9 01-disease-subtype +Orphanet:141118 Nasal encephalocele 01-disease-subtype +Orphanet:141127 Congenital tracheal stenosis 01-disease-subtype +Orphanet:141132 Oculo-auriculo-vertebral spectrum 01-disease-subtype +Orphanet:141136 Hemifacial microsomia 01-disease-subtype +Orphanet:141145 Hemifacial hypertrophy 01-disease-subtype +Orphanet:141152 Isolated congenital hypoglossia/aglossia 02-disease-root +Orphanet:141163 Glossopalatine ankylosis 01-disease-subtype +Orphanet:1412 Tarsal-carpal coalition syndrome 01-disease-subtype +Orphanet:141253 Oblique facial cleft 02-disease-root +Orphanet:141269 Lateral facial cleft 02-disease-root +Orphanet:141276 Commissural facial cleft 01-disease-subtype +Orphanet:141327 Orofaciodigital syndrome type 12 01-disease-subtype +Orphanet:141330 Orofaciodigital syndrome type 13 01-disease-subtype +Orphanet:1414 Cholestasis-lymphedema syndrome 01-disease-subtype +Orphanet:1420 Lethal chondrodysplasia, Moerman type 01-disease-subtype +Orphanet:1421 Lethal chondrodysplasia, Seller type 01-disease-subtype +Orphanet:1422 Chondrodysplasia - disorder of sex development 01-disease-subtype +Orphanet:1423 Lethal recessive chondrodysplasia 01-disease-subtype +Orphanet:1425 Desbuquois syndrome 01-disease-subtype +Orphanet:1427 Otospondylomegaepiphyseal dysplasia 01-disease-subtype +Orphanet:1428 Familial chondromalacia patellae 01-disease-subtype +Orphanet:1429 Benign familial chorea 02-disease-root +Orphanet:1431 Paroxysmal dyskinesia 02-disease-root +Orphanet:1433 Choroidal atrophy - alopecia 02-disease-root +Orphanet:1434 Choroideremia - hypopituitarism 01-disease-subtype +Orphanet:1435 Choroideremia - deafness - obesity 01-disease-subtype +Orphanet:1436 Skeletal dysplasia - intellectual disability 01-disease-subtype +Orphanet:1437 Ring chromosome 1 01-disease-subtype +Orphanet:1438 Ring chromosome 10 01-disease-subtype +Orphanet:1439 Ring chromosome 12 01-disease-subtype +Orphanet:1440 Ring chromosome 14 01-disease-subtype +Orphanet:1441 Ring chromosome 17 01-disease-subtype +Orphanet:1442 Ring chromosome 18 01-disease-subtype +Orphanet:1443 Ring chromosome 19 01-disease-subtype +Orphanet:1444 Ring chromosome 20 01-disease-subtype +Orphanet:1445 Ring chromosome 21 01-disease-subtype +Orphanet:1446 Ring chromosome 22 01-disease-subtype +Orphanet:1447 Ring chromosome 4 01-disease-subtype +Orphanet:1448 Ring chromosome 6 01-disease-subtype +Orphanet:1449 Ring chromosome 7 01-disease-subtype +Orphanet:145 Hereditary breast and ovarian cancer syndrome 02-disease-root +Orphanet:1452 Cleidocranial dysplasia 01-disease-subtype +Orphanet:1453 Cleidorhizomelic syndrome 01-disease-subtype +Orphanet:1454 Joubert syndrome with hepatic defect 01-disease-subtype +Orphanet:1460 Isolated CoQ-cytochrome C reductase deficiency 01-disease-subtype +Orphanet:1471 Coloboma of macula - brachydactyly type B 02-disease-root +Orphanet:1473 Uveal coloboma - cleft lip and palate - intellectual disability 02-disease-root +Orphanet:1475 Renal coloboma syndrome 02-disease-root +Orphanet:1479 Atrial septal defect - atrioventricular conduction defects 01-disease-subtype +Orphanet:148 Multiple carboxylase deficiency 01-disease-subtype +Orphanet:1480 Ventricular septal defect 01-disease-subtype +Orphanet:1484 Contractures - ectodermal dysplasia - cleft lip/palate 02-disease-root +Orphanet:1485 Arthrogryposis - hyperkeratosis, lethal form 01-disease-subtype +Orphanet:1486 Lethal congenital contracture syndrome type 1 01-disease-subtype +Orphanet:1490 Corneal dystrophy - perceptive deafness 01-disease-subtype +Orphanet:1495 Intellectual disability - hypoplastic corpus callosum - preauricular tag 01-disease-subtype +Orphanet:1496 Corpus callosum agenesis - neuronopathy 01-disease-subtype +Orphanet:15 Achondroplasia 01-disease-subtype +Orphanet:1505 Short rib-polydactyly syndrome 01-disease-subtype +Orphanet:1506 Thin ribs - tubular bones - dysmorphism 01-disease-subtype +Orphanet:1507 Autosomal recessive Robinow syndrome 01-disease-subtype +Orphanet:1508 Coxoauricular syndrome 01-disease-subtype +Orphanet:1509 Coxopodopatellar syndrome 01-disease-subtype +Orphanet:1513 Craniodiaphyseal dysplasia 01-disease-subtype +Orphanet:1514 Craniodigital syndrome - intellectual disability 02-disease-root +Orphanet:1515 Cranioectodermal dysplasia 01-disease-subtype +Orphanet:1516 Craniofacial dyssynostosis 02-disease-root +Orphanet:1517 Hypertrichotic osteochondrodysplasia, Cantu type 01-disease-subtype +Orphanet:1519 Hypertelorism, Teebi type 01-disease-subtype +Orphanet:1520 Craniofrontonasal dysplasia 01-disease-subtype +Orphanet:1521 Craniofrontonasal dysplasia - Poland anomaly 01-disease-subtype +Orphanet:1522 Craniometaphyseal dysplasia 01-disease-subtype +Orphanet:1524 Craniomicromelic syndrome 02-disease-root +Orphanet:1525 Cranio-osteoarthropathy 01-disease-subtype +Orphanet:1527 Craniosynostosis, Philadelphia type 02-disease-root +Orphanet:1528 Craniotelencephalic dysplasia 01-disease-subtype +Orphanet:1529 Craniofacial-deafness-hand syndrome 02-disease-root +Orphanet:1530 Craniosynostosis - cataract 02-disease-root +Orphanet:1531 Craniosynostosis 03-disease-area +Orphanet:1532 Gómez-López-Hernández syndrome 02-disease-root +Orphanet:1533 Craniosynostosis - fibular aplasia 02-disease-root +Orphanet:1538 Craniosynostosis - Dandy-Walker malformation - hydrocephalus 01-disease-subtype +Orphanet:154 Familial isolated dilated cardiomyopathy 01-disease-subtype +Orphanet:1541 Craniosynostosis, Boston type 02-disease-root +Orphanet:1545 Crisponi syndrome 01-disease-subtype +Orphanet:1547 Cryptomicrotia - brachydactyly - excess fingertip arch 02-disease-root +Orphanet:1548 Cryptorchidism - arachnodactyly - intellectual disability 02-disease-root +Orphanet:1551 Familial benign copper deficiency 01-disease-subtype +Orphanet:1555 Cutis gyrata - acanthosis nigricans - craniosynostosis 02-disease-root +Orphanet:155884 Coloboma of superior eyelid 01-disease-subtype +Orphanet:155889 Coloboma of inferior eyelid 01-disease-subtype +Orphanet:155896 Otomandibular dysplasia 02-disease-root +Orphanet:155899 Mandibulofacial dysostosis 01-disease-subtype +Orphanet:156 Carnitine palmitoyl transferase 1A deficiency 01-disease-subtype +Orphanet:156005 Primary glaucoma 02-disease-root +Orphanet:156071 Keratoconus 02-disease-root +Orphanet:156156 Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy 01-disease-subtype +Orphanet:156159 Isolated dystonia 02-disease-root +Orphanet:1562 Dacryocystitis - osteopoikilosis 01-disease-subtype +Orphanet:156202 Otomandibular dysplasia associated with monogenic syndromes 01-disease-subtype +Orphanet:156207 Macroglossia 02-disease-root +Orphanet:156212 Hypoglossia/aglossia 03-disease-area +Orphanet:156215 Oromandibular-limb anomalies syndrome 03-disease-area +Orphanet:156224 Paralytic facial malformation 02-disease-root +Orphanet:156237 Syndrome or malformation associated with head and neck malformations 03-disease-area +Orphanet:156249 Larynx anomaly 03-disease-area +Orphanet:156252 Tracheal anomaly 02-disease-root +Orphanet:156532 Rare syndrome with cardiac malformations 02-disease-root +Orphanet:1566 Dandy-Walker malformation - postaxial polydactyly 02-disease-root +Orphanet:156601 Rare genetic hepatic disease 03-disease-area +Orphanet:156604 Genetic parenchymatous liver disease 02-disease-root +Orphanet:156607 Genetic biliary tract disease 02-disease-root +Orphanet:156610 Rare genetic respiratory disease 03-disease-area +Orphanet:156619 Rare genetic urogenital disease 03-disease-area +Orphanet:156622 Genetic urogenital tract malformation 03-disease-area +Orphanet:156629 Genetic hypertension 02-disease-root +Orphanet:156638 Rare genetic endocrine disease 03-disease-area +Orphanet:156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type 02-disease-root +Orphanet:156731 Dyssegmental dysplasia, Rolland-Desbuquois type 02-disease-root +Orphanet:1568 X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures 01-disease-subtype +Orphanet:157 Carnitine palmitoyltransferase II deficiency 01-disease-subtype +Orphanet:1570 Symbrachydactyly of hands and feet 01-disease-subtype +Orphanet:1572 Common variable immunodeficiency 02-disease-root +Orphanet:157215 Hereditary hypophosphatemic rickets with hypercalciuria 01-disease-subtype +Orphanet:1573 Hypotrichosis with juvenile macular degeneration 02-disease-root +Orphanet:1574 Retinal degeneration - nanophthalmos - glaucoma 01-disease-subtype +Orphanet:1576 Infantile bilateral striatal necrosis 02-disease-root +Orphanet:157713 Congenital or early infantile CACH syndrome 01-disease-subtype +Orphanet:157716 Late infantile CACH syndrome 01-disease-subtype +Orphanet:157719 Juvenile or adult CACH syndrome 01-disease-subtype +Orphanet:157769 Situs ambiguus 01-disease-subtype +Orphanet:157794 Hereditary mixed polyposis syndrome 01-disease-subtype +Orphanet:157798 Hyperplastic polyposis syndrome 01-disease-subtype +Orphanet:1578 Dehydratase deficiency 01-disease-subtype +Orphanet:157801 Mesoaxial synostotic syndactyly with phalangeal reduction 02-disease-root +Orphanet:157808 Congenital pseudoarthrosis of the limbs 02-disease-root +Orphanet:157820 Cold-induced sweating syndrome 01-disease-subtype +Orphanet:157846 Neuroferritinopathy 01-disease-subtype +Orphanet:157850 Pantothenate kinase-associated neurodegeneration 01-disease-subtype +Orphanet:157949 Combined immunodeficiency with skin granulomas 02-disease-root +Orphanet:157962 Oculoauricular syndrome, Schorderet type 01-disease-subtype +Orphanet:157973 Congenital muscular dystrophy due to LMNA mutation 01-disease-subtype +Orphanet:158 Systemic primary carnitine deficiency 01-disease-subtype +Orphanet:1580 Distal monosomy 10p 01-disease-subtype +Orphanet:158029 Sea-blue histiocytosis 02-disease-root +Orphanet:158038 Primary hemophagocytic lymphohistiocytosis 02-disease-root +Orphanet:1581 Non-distal monosomy 10q 01-disease-subtype +Orphanet:158124 Genetic dementia 03-disease-area +Orphanet:158300 Rare genetic hematologic disease 03-disease-area +Orphanet:158661 Suprabasal epidermolysis bullosa simplex 01-disease-subtype +Orphanet:158665 Basal epidermolysis bullosa simplex 01-disease-subtype +Orphanet:158668 Epidermolysis bullosa simplex due to plakophilin deficiency 01-disease-subtype +Orphanet:158673 Acral dystrophic epidermolysis bullosa 01-disease-subtype +Orphanet:158676 Dystrophic epidermolysis bullosa, nails only 01-disease-subtype +Orphanet:158681 Epidermolysis bullosa simplex with circinate migratory erythema 01-disease-subtype +Orphanet:158684 Epidermolysis bullosa simplex with pyloric atresia 01-disease-subtype +Orphanet:158687 Lethal acantholytic epidermolysis bullosa 01-disease-subtype +Orphanet:159 Carnitine-acylcarnitine translocase deficiency 01-disease-subtype +Orphanet:1590 Distal monosomy 13q 01-disease-subtype +Orphanet:1597 Distal monosomy 17q 01-disease-subtype +Orphanet:1598 Monosomy 18p 01-disease-subtype +Orphanet:16 Blue cone monochromatism 01-disease-subtype +Orphanet:1606 1p36 deletion syndrome 01-disease-subtype +Orphanet:163 Hereditary hyperferritinemia with congenital cataracts 01-disease-subtype +Orphanet:163209 Non-syndromic cerebral malformation due to abnormal neuronal migration 03-disease-area +Orphanet:1636 Distal monosomy 7q36 01-disease-subtype +Orphanet:163631 Bile acid synthesis defect with cholestasis and malabsorption 02-disease-root +Orphanet:163649 Spondyloepiphyseal dysplasia, Nishimura type 02-disease-root +Orphanet:163654 Spondyloepiphyseal dysplasia, Cantu type 02-disease-root +Orphanet:163662 Spondyloepiphyseal dysplasia, Reardon type 02-disease-root +Orphanet:163665 Spondyloepiphyseal dysplasia tarda, Kohn type 02-disease-root +Orphanet:163668 Spondyloepiphyseal dysplasia, MacDermot type 02-disease-root +Orphanet:163681 Cortical dysplasia - focal epilepsy syndrome 01-disease-subtype +Orphanet:163684 Leukoencephalopathy - dystonia - motor neuropathy 02-disease-root +Orphanet:163690 Hypotonia - cystinuria syndrome 01-disease-subtype +Orphanet:163696 Action myoclonus - renal failure syndrome 01-disease-subtype +Orphanet:163708 Cryptogenic late-onset epileptic spasms 02-disease-root +Orphanet:163717 Benign familial mesial temporal lobe epilepsy 01-disease-subtype +Orphanet:163721 Rolandic epilepsy - speech dyspraxia 02-disease-root +Orphanet:163727 Rolandic epilepsy - paroxysmal exercise-induced dystonia - writer's cramp 02-disease-root +Orphanet:163746 Neurologic Waardenburg-Shah syndrome 01-disease-subtype +Orphanet:163927 Pustulosis palmaris et plantaris 02-disease-root +Orphanet:163937 X-linked intellectual disability, Najm type 01-disease-subtype +Orphanet:163956 X-linked intellectual disability, Nascimento type 02-disease-root +Orphanet:163976 X-linked intellectual disability, Van Esch type 02-disease-root +Orphanet:163979 X-linked intellectual disability - craniofacioskeletal syndrome 02-disease-root +Orphanet:163982 X-linked intellectual disability - spastic quadriparesis 02-disease-root +Orphanet:163985 Hyperekplexia - epilepsy 01-disease-subtype +Orphanet:163988 Developmental delay - deafness, Hildebrand type 02-disease-root +Orphanet:164001 Rare odontal or periodontal disorder 02-disease-root +Orphanet:1642 Distal monosomy 9p 01-disease-subtype +Orphanet:1646 Partial chromosome Y deletion 01-disease-subtype +Orphanet:1647 Oculocerebrocutaneous syndrome 01-disease-subtype +Orphanet:164736 Familial advanced sleep-phase syndrome 02-disease-root +Orphanet:165 Neutral lipid storage disease 01-disease-subtype +Orphanet:1653 Dentin dysplasia 02-disease-root +Orphanet:1654 Natal teeth - intestinal pseudoobstruction - patent ductus 02-disease-root +Orphanet:1655 Müllerian derivatives - lymphangiectasia - polydactyly 01-disease-subtype +Orphanet:165652 Rare genetic gastroenterological disease 03-disease-area +Orphanet:165655 Genetic intestinal disease 03-disease-area +Orphanet:165658 Genetic gastro-esophageal disease 03-disease-area +Orphanet:165661 Genetic pancreatic disease 03-disease-area +Orphanet:1657 Dermatoosteolysis, Kirghizian type 02-disease-root +Orphanet:165707 Syndromic urogenital tract malformation 03-disease-area +Orphanet:1658 Absence of fingerprints - congenital milia 02-disease-root +Orphanet:165805 Familial mesial temporal lobe epilepsy with febrile seizures 01-disease-subtype +Orphanet:165985 Diazoxide-sensitive diffuse hyperinsulinism 02-disease-root +Orphanet:165988 Diazoxide-resistant diffuse hyperinsulinism 01-disease-subtype +Orphanet:165991 Exercise-induced hyperinsulinism 01-disease-subtype +Orphanet:165994 Selective pituitary resistance to thyroid hormone 02-disease-root +Orphanet:1660 Dermo-odonto dysplasia 02-disease-root +Orphanet:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly 01-disease-subtype +Orphanet:166011 Multiple epiphyseal dysplasia, Beighton type 01-disease-subtype +Orphanet:166016 Multiple epiphyseal dysplasia, Lowry type 01-disease-subtype +Orphanet:166024 Multiple epiphyseal dysplasia, Al-Gazali type 01-disease-subtype +Orphanet:166029 Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia 01-disease-subtype +Orphanet:166032 Multiple epiphyseal dysplasia, with miniepiphyses 01-disease-subtype +Orphanet:166035 Metaphyseal chondrodysplasia - retinitis pigmentosa 01-disease-subtype +Orphanet:166038 Metaphyseal chondrodysplasia, Kaitila type 01-disease-subtype +Orphanet:166063 Pontocerebellar hypoplasia type 4 01-disease-subtype +Orphanet:166068 Pontocerebellar hypoplasia type 5 01-disease-subtype +Orphanet:166073 Pontocerebellar hypoplasia type 6 01-disease-subtype +Orphanet:166078 Von Willebrand disease type 1 01-disease-subtype +Orphanet:166081 Von Willebrand disease type 2 01-disease-subtype +Orphanet:166084 Von Willebrand disease type 2A 01-disease-subtype +Orphanet:166087 Von Willebrand disease type 2B 01-disease-subtype +Orphanet:166090 Von Willebrand disease type 2M 01-disease-subtype +Orphanet:166093 Von Willebrand disease type 2N 01-disease-subtype +Orphanet:166096 Von Willebrand disease type 3 01-disease-subtype +Orphanet:166100 Stickler syndrome type 3 01-disease-subtype +Orphanet:166113 Bazex syndrome 01-disease-subtype +Orphanet:166119 Isolated osteopoikilosis 01-disease-subtype +Orphanet:1662 Lethal restrictive dermopathy 02-disease-root +Orphanet:166260 Dentinogenesis imperfecta type 2 01-disease-subtype +Orphanet:166265 Dentinogenesis imperfecta type 3 01-disease-subtype +Orphanet:166277 Suarez-Stickler syndrome 01-disease-subtype +Orphanet:166282 Familial sick sinus syndrome 02-disease-root +Orphanet:166286 Porokeratotic eccrine ostial and dermal duct nevus 02-disease-root +Orphanet:166295 Benign non-familial infantile seizures 02-disease-root +Orphanet:166299 Benign partial epilepsy of infancy with complex partial seizures 01-disease-subtype +Orphanet:166302 Benign partial epilepsy with secondarily generalized seizures in infancy 01-disease-subtype +Orphanet:166305 Benign infantile seizures associated to mild gastroenteritis 02-disease-root +Orphanet:166308 Benign infantile focal epilepsy with midline spikes and wave during sleep 02-disease-root +Orphanet:166311 Benign partial infantile seizures 03-disease-area +Orphanet:166463 Epilepsy syndrome 02-disease-root +Orphanet:166466 Neurocutaneous syndrome with epilepsy 02-disease-root +Orphanet:166472 Monogenic disease with epilepsy 03-disease-area +Orphanet:166475 Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes 02-disease-root +Orphanet:166478 Cerebral malformation with epilepsy 03-disease-area +Orphanet:166487 Cerebral diseases of vascular origin with epilepsy 02-disease-root +Orphanet:167 Chédiak-Higashi syndrome 01-disease-subtype +Orphanet:1670 Chronic diarrhea with villous atrophy 01-disease-subtype +Orphanet:1671 Diastematomyelia 02-disease-root +Orphanet:1675 Dihydropyrimidine dehydrogenase deficiency 01-disease-subtype +Orphanet:1677 Familial idiopathic dilatation of the right atrium 02-disease-root +Orphanet:167759 Hereditary dentin defect 03-disease-area +Orphanet:167762 Rare disease with dentinogenesis imperfecta 02-disease-root +Orphanet:168 Loose anagen syndrome 02-disease-root +Orphanet:168443 Spondyloepimetaphyseal dysplasia - hypotrichosis 02-disease-root +Orphanet:168448 Spondyloepimetaphyseal dysplasia, Bieganski type 02-disease-root +Orphanet:168451 Spondyloepimetaphyseal dysplasia - abnormal dentition 02-disease-root +Orphanet:168486 Congenital neuronal ceroid lipofuscinosis 01-disease-subtype +Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis 01-disease-subtype +Orphanet:168544 Spondylometaphyseal dysplasia, Golden type 01-disease-subtype +Orphanet:168549 Axial spondylometaphyseal dysplasia 01-disease-subtype +Orphanet:168552 Spondylometaphyseal dysplasia - bowed forearms - facial dysmorphism 01-disease-subtype +Orphanet:168555 Spondylometaphyseal dysplasia, A4 type 01-disease-subtype +Orphanet:168558 46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency 01-disease-subtype +Orphanet:168563 46,XY gonadal dysgenesis - motor and sensory neuropathy 01-disease-subtype +Orphanet:168566 Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 01-disease-subtype +Orphanet:168572 Native American myopathy 01-disease-subtype +Orphanet:168577 Hereditary cryohydrocytosis with reduced stomatin 02-disease-root +Orphanet:168583 Hereditary North American Indian childhood cirrhosis 01-disease-subtype +Orphanet:168588 Hyperandrogenism due to cortisone reductase deficiency 02-disease-root +Orphanet:168593 Sudden infant death - dysgenesis of the testes 01-disease-subtype +Orphanet:168598 Brain demyelination due to methionine adenosyltransferase deficiency 01-disease-subtype +Orphanet:168601 Congenital enteropathy due to enteropeptidase deficiency 01-disease-subtype +Orphanet:168606 Seborrhea-like dermatitis with psoriasiform elements 02-disease-root +Orphanet:168609 Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure 01-disease-subtype +Orphanet:168612 Congenital deficiency in alpha-fetoprotein 02-disease-root +Orphanet:168615 Hereditary persistence of alpha-fetoprotein 02-disease-root +Orphanet:168621 Dysplasia of head of femur, Meyer type 01-disease-subtype +Orphanet:168624 Familial scaphocephaly syndrome, McGillivray type 02-disease-root +Orphanet:168629 Autosomal thrombocytopenia with normal platelets 01-disease-subtype +Orphanet:168632 Generalized basaloid follicular hamartoma syndrome 01-disease-subtype +Orphanet:168778 Rare pervasive developmental disorder 03-disease-area +Orphanet:168782 Childhood disintegrative disorder 02-disease-root +Orphanet:168796 Heart-hand syndrome, Slovenian type 01-disease-subtype +Orphanet:169 Ringed hair disease 01-disease-subtype +Orphanet:169082 Combined immunodeficiency due to CD3gamma deficiency 02-disease-root +Orphanet:169085 Susceptibility to respiratory infections associated with CD8alpha chain mutation 02-disease-root +Orphanet:169090 Combined immunodeficiency due to CRAC channel dysfunction 02-disease-root +Orphanet:169095 Alymphoid cystic thymic dysgenesis 02-disease-root +Orphanet:169100 Immunodeficiency due to CD25 deficiency 02-disease-root +Orphanet:169110 Immunoglobulin heavy chain deficiency 02-disease-root +Orphanet:169139 Transient hypogammaglobulinemia of infancy 02-disease-root +Orphanet:169142 Recurrent infection due to specific granule deficiency 02-disease-root +Orphanet:169150 Immunodeficiency due to a late component of complements deficiency 01-disease-subtype +Orphanet:169163 Familial scaphocephaly syndrome 02-disease-root +Orphanet:169186 Autosomal recessive centronuclear myopathy 01-disease-subtype +Orphanet:169189 Autosomal dominant centronuclear myopathy 01-disease-subtype +Orphanet:1692 Mosaic trisomy 1 01-disease-subtype +Orphanet:169346 DNA repair defect other than combined T-cell and B-cell immunodeficiencies 03-disease-area +Orphanet:169349 Immuno-osseous dysplasia 03-disease-area +Orphanet:169355 Immunodeficiency syndrome with autoimmunity 03-disease-area +Orphanet:169361 Immune dysregulation disease with immunodeficiency 03-disease-area +Orphanet:169443 Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells 03-disease-area +Orphanet:169446 Autosomal recessive hyper-IgE syndrome 01-disease-subtype +Orphanet:169464 Primary CD59 deficiency 01-disease-subtype +Orphanet:169467 Recurrent Neisseria infections due to factor D deficiency 01-disease-subtype +Orphanet:1695 Non-distal trisomy 10q 01-disease-subtype +Orphanet:169793 Severe hemophilia B 01-disease-subtype +Orphanet:169796 Moderately severe hemophilia B 01-disease-subtype +Orphanet:169799 Mild hemophilia B 01-disease-subtype +Orphanet:1698 Mosaic trisomy 12 01-disease-subtype +Orphanet:169802 Severe hemophilia A 01-disease-subtype +Orphanet:169805 Moderately severe hemophilia A 01-disease-subtype +Orphanet:169808 Mild hemophilia A 01-disease-subtype +Orphanet:169826 Congenital vitamin K-dependent coagulation factors deficiency 01-disease-subtype +Orphanet:1699 Trisomy 12p 01-disease-subtype +Orphanet:17 Fatal infantile lactic acidosis with methylmalonic aciduria 01-disease-subtype +Orphanet:170 Woolly hair 01-disease-subtype +Orphanet:1702 Non-distal trisomy 13q 01-disease-subtype +Orphanet:1703 Mosaic trisomy 14 01-disease-subtype +Orphanet:1705 Distal trisomy 14q 01-disease-subtype +Orphanet:1706 Mosaic trisomy 15 01-disease-subtype +Orphanet:1707 Distal trisomy 15q 01-disease-subtype +Orphanet:1708 Mosaic trisomy 16 01-disease-subtype +Orphanet:1711 Mosaic trisomy 17 01-disease-subtype +Orphanet:171201 High anorectal malformation 01-disease-subtype +Orphanet:171208 Intermediate anorectal malformation 01-disease-subtype +Orphanet:171215 Low anorectal malformation 01-disease-subtype +Orphanet:171220 Rectal duplication 02-disease-root +Orphanet:171430 Severe congenital nemaline myopathy 01-disease-subtype +Orphanet:171433 Intermediate nemaline myopathy 01-disease-subtype +Orphanet:171436 Typical nemaline myopathy 01-disease-subtype +Orphanet:171439 Childhood-onset nemaline myopathy 01-disease-subtype +Orphanet:171442 Adult-onset nemaline myopathy 01-disease-subtype +Orphanet:171445 Muscle filaminopathy 01-disease-subtype +Orphanet:1715 Trisomy 18p 01-disease-subtype +Orphanet:1716 Distal trisomy 18q 01-disease-subtype +Orphanet:171607 X-linked spastic paraplegia type 34 01-disease-subtype +Orphanet:171612 Autosomal dominant spastic paraplegia type 37 01-disease-subtype +Orphanet:171617 Autosomal dominant spastic paraplegia type 38 01-disease-subtype +Orphanet:171622 Autosomal recessive spastic paraplegia type 32 01-disease-subtype +Orphanet:171629 Autosomal recessive spastic paraplegia type 35 01-disease-subtype +Orphanet:171680 Lissencephaly due to TUBA1A mutation 01-disease-subtype +Orphanet:171690 Metabolic myopathy due to lactate transporter defect 02-disease-root +Orphanet:171695 Parkinsonian-pyramidal syndrome 01-disease-subtype +Orphanet:1717 Distal trisomy 19q 01-disease-subtype +Orphanet:171703 Microcephaly - polymicrogyria - corpus callosum agenesis 01-disease-subtype +Orphanet:171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency 01-disease-subtype +Orphanet:171709 Male infertility due to globozoospermia 01-disease-subtype +Orphanet:171719 Cutis laxa-Marfanoid syndrome 02-disease-root +Orphanet:171723 White sponge nevus 01-disease-subtype +Orphanet:171836 Amelogenesis imperfecta and gingival hyperplasia syndrome 01-disease-subtype +Orphanet:171839 Craniosynostosis - hydrocephalus - Arnold-Chiari malformation type I - radioulnar synostosis 02-disease-root +Orphanet:171844 Blindness-scoliosis-arachnodactyly syndrome 02-disease-root +Orphanet:171848 Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract 01-disease-subtype +Orphanet:171860 Intellectual disability - cataracts - kyphosis 02-disease-root +Orphanet:171863 Autosomal dominant spastic paraplegia type 42 01-disease-subtype +Orphanet:171866 Spondyloepimetaphyseal dysplasia, aggrecan type 01-disease-subtype +Orphanet:171871 Renal pseudohypoaldosteronism type 1 01-disease-subtype +Orphanet:171876 Generalized pseudohypoaldosteronism type 1 01-disease-subtype +Orphanet:171881 Cap myopathy 01-disease-subtype +Orphanet:171886 Cylindrical spirals myopathy 01-disease-subtype +Orphanet:171889 Myopathy with hexagonally cross-linked tubular arrays 01-disease-subtype +Orphanet:171929 Trisomy 10p 01-disease-subtype +Orphanet:172 Progressive familial intrahepatic cholestasis 01-disease-subtype +Orphanet:1723 Mosaic trisomy 2 01-disease-subtype +Orphanet:1724 Mosaic trisomy 20 01-disease-subtype +Orphanet:1727 22q11.2 microduplication syndrome 01-disease-subtype +Orphanet:172976 Congenital myopathy with cores 01-disease-subtype +Orphanet:1738 Trisomy 4p 01-disease-subtype +Orphanet:174 Metaphyseal chondrodysplasia, Schmid type 01-disease-subtype +Orphanet:1742 Trisomy 5p 01-disease-subtype +Orphanet:1745 Distal trisomy 6p 01-disease-subtype +Orphanet:174590 Congenital hypogonadotropic hypogonadism 03-disease-area +Orphanet:1747 Mosaic trisomy 7 01-disease-subtype +Orphanet:175 Cartilage-hair hypoplasia 01-disease-subtype +Orphanet:1752 Trisomy 8q 01-disease-subtype +Orphanet:1756 Caudal duplication 02-disease-root +Orphanet:1757 Fibular dimelia - diplopodia 02-disease-root +Orphanet:1759 Thoraco-abdominal enteric duplication 01-disease-subtype +Orphanet:176 Non-rhizomelic chondrodysplasia punctata 01-disease-subtype +Orphanet:1764 Familial dysautonomia 01-disease-subtype +Orphanet:1765 Dyschondrosteosis - nephritis 01-disease-subtype +Orphanet:1766 Dysequilibrium syndrome 01-disease-subtype +Orphanet:1768 Familial caudal dysgenesis 02-disease-root +Orphanet:177 Rhizomelic chondrodysplasia punctata 01-disease-subtype +Orphanet:1770 Gonadal dysgenesis, XY type - associated anomalies 01-disease-subtype +Orphanet:177107 Syndromic hypothyroidism 01-disease-subtype +Orphanet:1775 Dyskeratosis congenita 01-disease-subtype +Orphanet:1777 Temtamy syndrome 01-disease-subtype +Orphanet:1778 Facial dysmorphism - shawl scrotum - joint laxity 02-disease-root +Orphanet:1779 Dysmorphism - cleft palate - loose skin 02-disease-root +Orphanet:177926 Symptomatic form of hemophilia A in female carriers 01-disease-subtype +Orphanet:177929 Symptomatic form of hemophilia B in female carriers 01-disease-subtype +Orphanet:178 Chordoma 02-disease-root +Orphanet:178025 Non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations 01-disease-subtype +Orphanet:178040 Peripheral precocious puberty 02-disease-root +Orphanet:178145 Moderate multiminicore disease with hand involvement 01-disease-subtype +Orphanet:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita 01-disease-subtype +Orphanet:1782 Dysosteosclerosis 01-disease-subtype +Orphanet:178307 Reticulate acropigmentation of Kitamura 01-disease-subtype +Orphanet:178333 Åland Islands eye disease 02-disease-root +Orphanet:178345 Aromatase excess syndrome 02-disease-root +Orphanet:178364 Syndromic microphthalmia type 5 01-disease-subtype +Orphanet:178377 Osteosclerosis-developmental delay-craniosynostosis syndrome 02-disease-root +Orphanet:178382 Congenital vertical talus 02-disease-root +Orphanet:178389 Osteopetrosis - hypogammaglobulinemia 01-disease-subtype +Orphanet:178396 Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation 01-disease-subtype +Orphanet:1784 Acro-fronto-facio-nasal dysostosis 01-disease-subtype +Orphanet:178400 Distal myopathy with anterior tibial onset 01-disease-subtype +Orphanet:178464 Hereditary proximal myopathy with early respiratory failure 01-disease-subtype +Orphanet:178469 Autosomal dominant non-syndromic intellectual disability 01-disease-subtype +Orphanet:1786 Acrofacial dysostosis, Catania type 01-disease-subtype +Orphanet:1787 Acrofacial dysostosis, Palagonia type 01-disease-subtype +Orphanet:1788 Acrofacial dysostosis, Rodríguez type 01-disease-subtype +Orphanet:179 Birdshot chorioretinopathy 02-disease-root +Orphanet:1790 Hypomandibular faciocranial dysostosis 02-disease-root +Orphanet:179006 Primary immunodeficiency due to a defect in adaptive immunity 03-disease-area +Orphanet:1791 Frontofacionasal dysplasia 01-disease-subtype +Orphanet:1794 Oculomaxillofacial dysostosis 01-disease-subtype +Orphanet:179490 Obesity due to congenital leptin resistance 01-disease-subtype +Orphanet:179494 Obesity due to leptin receptor gene deficiency 01-disease-subtype +Orphanet:1795 Peripheral dysostosis 01-disease-subtype +Orphanet:1797 Autosomal dominant spondylocostal dysostosis 01-disease-subtype +Orphanet:1798 Dysostosis, Stanescu type 01-disease-subtype +Orphanet:18 Distal renal tubular acidosis 02-disease-root +Orphanet:180 Choroideremia 01-disease-subtype +Orphanet:180068 Partial bilateral aplasia of the Müllerian ducts 01-disease-subtype +Orphanet:180071 Unilateral aplasia of the Müllerian ducts 01-disease-subtype +Orphanet:180074 True unicornuate uterus 01-disease-subtype +Orphanet:180079 Pseudounicornuate uterus 01-disease-subtype +Orphanet:1801 Kyphomelic dysplasia 01-disease-subtype +Orphanet:1802 Ghosal hematodiaphyseal dysplasia 01-disease-subtype +Orphanet:1803 Thoracomelic dysplasia 01-disease-subtype +Orphanet:1804 Dyssegmental dysplasia - glaucoma 01-disease-subtype +Orphanet:1806 Ectodermal dysplasia - blindness 01-disease-subtype +Orphanet:1807 Focal facial dermal dysplasia type III 01-disease-subtype +Orphanet:180766 Malformative syndrome with dentinogenesis imperfecta 02-disease-root +Orphanet:180772 Rare disease with autism 03-disease-area +Orphanet:1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type 02-disease-root +Orphanet:1809 Hidrotic ectodermal dysplasia, Halal type 02-disease-root +Orphanet:1810 Autosomal dominant hypohidrotic ectodermal dysplasia 01-disease-subtype +Orphanet:1811 Odontomicronychial dysplasia 01-disease-subtype +Orphanet:1812 Ectodermal dysplasia - intellectual disability - central nervous system malformation 02-disease-root +Orphanet:181368 Rare insulin-resistance syndrome 02-disease-root +Orphanet:181387 Rare disorder with hypogonadotropic hypogonadism 02-disease-root +Orphanet:181390 Hypogonadotropic hypogonadism associated with other endocrinopathies 01-disease-subtype +Orphanet:181393 Growth hormone insensitivity syndrome 03-disease-area +Orphanet:181396 Rare hypothyroidism 03-disease-area +Orphanet:181399 Rare hyperthyroidism 03-disease-area +Orphanet:181402 Syndrome with hypoparathyroidism 02-disease-root +Orphanet:181412 Adrenogenital syndrome 03-disease-area +Orphanet:181422 Rare hyperlipidemia 02-disease-root +Orphanet:181425 Major hypertriglyceridemia 01-disease-subtype +Orphanet:181428 Hyperalphalipoproteinemia 01-disease-subtype +Orphanet:181431 Rare hypolipidemia 02-disease-root +Orphanet:181437 Rare syndromic dyslipidemia 02-disease-root +Orphanet:181441 Rare disorder with hypergonadotropic hypogonadism 03-disease-area +Orphanet:1818 Ectodermal dysplasia, trichoodontoonychial type 02-disease-root +Orphanet:182043 Rare constitutional hemolytic anemia 03-disease-area +Orphanet:182050 MYH9-related disease 01-disease-subtype +Orphanet:182073 Syndromic neurometabolic disease with non-X-linked intellectual disability 03-disease-area +Orphanet:182076 Syndromic neurometabolic disease with X-linked intellectual disability 03-disease-area +Orphanet:182083 Channelopathy with epilepsy 02-disease-root +Orphanet:1822 Dysplasia epiphysealis hemimelica 01-disease-subtype +Orphanet:1825 Epiphyseal dysplasia - hearing loss - dysmorphism 02-disease-root +Orphanet:1826 Frontometaphyseal dysplasia 01-disease-subtype +Orphanet:1827 Acromelic frontonasal dysplasia 01-disease-subtype +Orphanet:1832 Lethal osteosclerotic bone dysplasia 01-disease-subtype +Orphanet:1834 Axial mesodermal dysplasia spectrum 02-disease-root +Orphanet:183422 Polymalformative genetic syndrome with increased risk of developing cancer 02-disease-root +Orphanet:183426 Genetic epidermal disorder 03-disease-area +Orphanet:183435 Inherited ichthyosis 03-disease-area +Orphanet:183438 Genetic erythrokeratoderma 03-disease-area +Orphanet:183441 Genetic acrokeratoderma 02-disease-root +Orphanet:183444 Genetic porokeratosis 03-disease-area +Orphanet:183447 Genetic epidermal appendage anomaly 03-disease-area +Orphanet:183450 Genetic hair anomaly 03-disease-area +Orphanet:183454 Genetic nail anomaly 02-disease-root +Orphanet:183460 Genetic sebaceous gland anomaly 02-disease-root +Orphanet:183463 Genetic pigmentation anomaly of the skin 03-disease-area +Orphanet:183466 Genetic hyperpigmentation of the skin 02-disease-root +Orphanet:183469 Genetic hypopigmentation of the skin 02-disease-root +Orphanet:183478 Genetic skin vascular disorder 03-disease-area +Orphanet:183481 Genetic mixed dermis disorder 03-disease-area +Orphanet:183484 Genetic subcutaneous tissue disorder 03-disease-area +Orphanet:183487 Genetic skin tumor 02-disease-root +Orphanet:183490 Genetic photodermatosis 03-disease-area +Orphanet:183494 Genetic immune deficiency with skin involvement 03-disease-area +Orphanet:183497 Genetic neuromuscular disease 03-disease-area +Orphanet:183500 Genetic neurodegenerative disease 03-disease-area +Orphanet:183503 Genetic central nervous system and retinal vascular disease 03-disease-area +Orphanet:183506 Genetic central nervous system malformation 03-disease-area +Orphanet:183509 Rare genetic headache 02-disease-root +Orphanet:183512 Rare genetic epilepsy 03-disease-area +Orphanet:183515 Rare genetic medullar disease 02-disease-root +Orphanet:183518 Rare hereditary ataxia 03-disease-area +Orphanet:183521 Rare genetic movement disorder 03-disease-area +Orphanet:183524 Rare genetic bone disease 03-disease-area +Orphanet:183527 Genetic bone tumor 03-disease-area +Orphanet:183530 Rare genetic developmental defect during embryogenesis 03-disease-area +Orphanet:183533 Genetic multiple congenital anomalies/dysmorphic syndrome 03-disease-area +Orphanet:183536 Genetic congenital limb malformation 03-disease-area +Orphanet:183539 Genetic renal or urinary tract malformation 03-disease-area +Orphanet:183542 Genetic cranial malformation 03-disease-area +Orphanet:183545 Genetic digestive tract malformation 03-disease-area +Orphanet:183548 Genetic visceral malformation of the liver, biliary tract, pancreas or spleen 03-disease-area +Orphanet:183554 Genetic respiratory or mediastinal malformation 03-disease-area +Orphanet:183557 Genetic developmental defect of the eye 03-disease-area +Orphanet:183570 Genetic malformation syndrome with short stature 02-disease-root +Orphanet:183573 Genetic overgrowth/obesity syndrome 03-disease-area +Orphanet:183576 Genetic branchial arch or oral-acral syndrome 03-disease-area +Orphanet:183580 Genetic malformation syndrome with odontal and/or periodontal component 03-disease-area +Orphanet:183583 Genetic head and neck malformation 03-disease-area +Orphanet:183586 Genetic glomerular disease 03-disease-area +Orphanet:183589 Genetic thrombotic microangiopathy 02-disease-root +Orphanet:183592 Genetic renal tubular disease 03-disease-area +Orphanet:183595 Genetic renal tumor 03-disease-area +Orphanet:183598 Rare genetic palpebral, lacrimal system and conjunctival disease 03-disease-area +Orphanet:1836 Mesomelic dysplasia, Kantaputra type 01-disease-subtype +Orphanet:183601 Rare genetic refraction anomaly 03-disease-area +Orphanet:183607 Genetic lens and zonula anomaly 03-disease-area +Orphanet:183616 Genetic neuro-ophthalmological disease 03-disease-area +Orphanet:183619 Genetic eye tumor 02-disease-root +Orphanet:183622 Genetic respiratory malformation 03-disease-area +Orphanet:183625 Rare genetic diabetes mellitus 03-disease-area +Orphanet:183628 Rare genetic hypothalamic or pituitary disease 03-disease-area +Orphanet:183631 Rare genetic thyroid disease 03-disease-area +Orphanet:183634 Rare genetic parathyroid disease and phosphocalcic metabolism disorder 03-disease-area +Orphanet:183637 Rare genetic adrenal disease 03-disease-area +Orphanet:183643 Genetic polyendocrinopathy 03-disease-area +Orphanet:183651 Rare constitutional anemia 03-disease-area +Orphanet:183654 Rare genetic coagulation disorder 03-disease-area +Orphanet:183660 Severe combined immunodeficiency 02-disease-root +Orphanet:183663 Hyper-IgM syndrome with susceptibility to opportunistic infections 02-disease-root +Orphanet:183666 Hyper-IgM syndrome without susceptibility to opportunistic infections 02-disease-root +Orphanet:183669 Agammaglobulinemia 02-disease-root +Orphanet:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency 02-disease-root +Orphanet:183678 Hermansky-Pudlak syndrome with neutropenia 01-disease-subtype +Orphanet:183681 Functional neutrophil defect 03-disease-area +Orphanet:1837 Ulna metaphyseal dysplasia syndrome 01-disease-subtype +Orphanet:183707 Neutrophil immunodeficiency syndrome 02-disease-root +Orphanet:183710 Genetic susceptibility to infections due to particular pathogens 03-disease-area +Orphanet:183713 Pyogenic bacterial infections due to MyD88 deficiency 02-disease-root +Orphanet:183734 Genetic gynecological tumor 03-disease-area +Orphanet:183757 Rare genetic intellectual disability 03-disease-area +Orphanet:183763 Rare genetic intellectual disability with developmental anomaly 03-disease-area +Orphanet:183770 Rare genetic immune disease 03-disease-area +Orphanet:1839 Hereditary mucoepithelial dysplasia 02-disease-root +Orphanet:184 Cherubism 01-disease-subtype +Orphanet:1842 Bone dysplasia, lethal Holmgren type 01-disease-subtype +Orphanet:1844 Bone dysplasia, Azouz type 01-disease-subtype +Orphanet:1848 Bilateral renal agenesis 02-disease-root +Orphanet:1849 Infundibulopelvic stenosis - multicystic kidney 02-disease-root +Orphanet:1850 Renal dysplasia - megalocystis - sirenomelia 02-disease-root +Orphanet:1851 Multicystic dysplastic kidney 02-disease-root +Orphanet:1856 Spondyloperipheral dysplasia - short ulna 01-disease-subtype +Orphanet:1858 Skeletal dysplasia - epilepsy - short stature 02-disease-root +Orphanet:1860 Thanatophoric dysplasia type 1 01-disease-subtype +Orphanet:1865 Dyssegmental dysplasia, Silverman-Handmaker type 01-disease-subtype +Orphanet:1866 Focal, segmental or multifocal dystonia 01-disease-subtype +Orphanet:1867 Bullous dystrophy, macular type 02-disease-root +Orphanet:187 Citrullinemia 01-disease-subtype +Orphanet:1871 Progressive cone dystrophy 01-disease-subtype +Orphanet:1872 Cone rod dystrophy 02-disease-root +Orphanet:1875 Congenital muscular dystrophy - infantile cataract - hypogonadism 01-disease-subtype +Orphanet:1876 Oculogastrointestinal muscular dystrophy 01-disease-subtype +Orphanet:1877 Muscular dystrophy - white matter spongiosis 02-disease-root +Orphanet:1878 Autosomal recessive limb-girdle muscular dystrophy type 2H 01-disease-subtype +Orphanet:1879 Melorheostosis with osteopoikilosis 01-disease-subtype +Orphanet:1882 Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia 01-disease-subtype +Orphanet:1883 Ectodermal dysplasia - sensorineural deafness 02-disease-root +Orphanet:1884 Ectopia lentis - chorioretinal dystrophy - myopia 01-disease-subtype +Orphanet:1885 Isolated ectopia lentis 01-disease-subtype +Orphanet:1891 Intellectual disability - spasticity - ectrodactyly 02-disease-root +Orphanet:1892 Ectrodactyly - polydactyly 02-disease-root +Orphanet:189439 Primary pigmented nodular adrenocortical disease 02-disease-root +Orphanet:189466 Familial isolated hypoparathyroidism due to impaired PTH secretion 01-disease-subtype +Orphanet:1899 Ehlers-Danlos syndrome, arthrochalasic type 01-disease-subtype +Orphanet:1900 Ehlers-Danlos syndrome, kyphoscoliotic type 01-disease-subtype +Orphanet:1928 Congenital lobar emphysema 02-disease-root +Orphanet:1930 Herpetic encephalitis 02-disease-root +Orphanet:1931 Frontal encephalocele 01-disease-subtype +Orphanet:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 01-disease-subtype +Orphanet:1935 Early myoclonic encephalopathy 01-disease-subtype +Orphanet:1940 Shoulder and thorax deformity - congenital heart disease 02-disease-root +Orphanet:1941 Juvenile absence epilepsy 01-disease-subtype +Orphanet:1942 Myoclonic-astastic epilepsy 02-disease-root +Orphanet:1945 Rolandic epilepsy 01-disease-subtype +Orphanet:1946 Amelo-cerebro-hypohidrotic syndrome 02-disease-root +Orphanet:1947 Progressive epilepsy - intellectual disability, Finnish type 01-disease-subtype +Orphanet:1948 Epilepsy - microcephaly - skeletal dysplasia 02-disease-root +Orphanet:1949 Benign familial neonatal seizures 01-disease-subtype +Orphanet:195 Cat-eye syndrome 01-disease-subtype +Orphanet:1951 Epilepsy telangiectasia 01-disease-subtype +Orphanet:1952 Pacman dysplasia 01-disease-subtype +Orphanet:1954 Congenital lethal erythroderma 02-disease-root +Orphanet:1955 Spinocerebellar ataxia type 34 01-disease-subtype +Orphanet:1956 Erythromelalgia 01-disease-subtype +Orphanet:1962 Exostoses - anetodermia - brachydactyly type E 01-disease-subtype +Orphanet:1970 Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation 01-disease-subtype +Orphanet:1972 Lethal faciocardiomelic dysplasia 02-disease-root +Orphanet:1973 Faciocardiorenal syndrome 02-disease-root +Orphanet:1974 Autosomal recessive facio-digito-genital syndrome 01-disease-subtype +Orphanet:1979 Lipodystrophy due to peptidic growth factors deficiency 01-disease-subtype +Orphanet:198 Occipital horn syndrome 01-disease-subtype +Orphanet:1980 Bilateral striopallidodentate calcinosis 01-disease-subtype +Orphanet:1987 Femoral agenesis/hypoplasia 02-disease-root +Orphanet:1988 Femoral-facial syndrome 02-disease-root +Orphanet:199241 Pulmonary capillary hemangiomatosis 01-disease-subtype +Orphanet:199247 Corticosteroid-binding globulin deficiency 02-disease-root +Orphanet:199276 Familial multiple lipomatosis 02-disease-root +Orphanet:199279 Familial angiolipomatosis 02-disease-root +Orphanet:199282 Harlequin syndrome 02-disease-root +Orphanet:199285 Hereditary hypercarotenemia and vitamin A deficiency 01-disease-subtype +Orphanet:199310 Tetragametic chimerism 01-disease-subtype +Orphanet:199315 Familial clubfoot with or without associated lower limb anomalies 02-disease-root +Orphanet:199318 15q13.3 microdeletion syndrome 01-disease-subtype +Orphanet:199326 Isolated autosomal dominant hypomagnesemia, Glaudemans type 01-disease-subtype +Orphanet:199329 Congenital myopathy, Paradas type 01-disease-subtype +Orphanet:199332 Endocrine-cerebro-osteodysplasia syndrome 01-disease-subtype +Orphanet:199337 Pancreatic insufficiency - anemia - hyperostosis 01-disease-subtype +Orphanet:199348 Thiamine-responsive encephalopathy 01-disease-subtype +Orphanet:199351 Adult-onset dystonia-parkinsonism 01-disease-subtype +Orphanet:199354 CARASIL 02-disease-root +Orphanet:1995 Cleft lip - retinopathy 01-disease-subtype +Orphanet:199627 Atypical autism 02-disease-root +Orphanet:199642 Isolated congenital microcephaly 02-disease-root +Orphanet:199647 Isolated encephalocele 01-disease-subtype +Orphanet:1997 Blepharo-cheilo-odontic syndrome 01-disease-subtype +Orphanet:200037 Paroxysmal dystonia 03-disease-area +Orphanet:2001 Cleft lip/palate - intestinal malrotation - cardiopathy 02-disease-root +Orphanet:2003 Cleft lip/palate - deafness - sacral lipoma 02-disease-root +Orphanet:200421 Immunodeficiency with factor H anomaly 01-disease-subtype +Orphanet:2007 Alar cartilages hypoplasia - coloboma - telecanthus 02-disease-root +Orphanet:2008 Acro-cardio-facial syndrome 02-disease-root +Orphanet:2010 Cleft palate - stapes fixation - oligodontia 02-disease-root +Orphanet:2013 Cleft palate - large ears - small head 02-disease-root +Orphanet:2015 Cleft palate - short stature - vertebral anomalies 02-disease-root +Orphanet:2016 Cleft palate-lateral synechia syndrome 02-disease-root +Orphanet:2019 Femur-fibula-ulna complex 01-disease-subtype +Orphanet:2020 Congenital fiber-type disproportion myopathy 01-disease-subtype +Orphanet:2021 Fibrochondrogenesis 01-disease-subtype +Orphanet:2024 Hereditary gingival fibromatosis 01-disease-subtype +Orphanet:2025 Gingival fibromatosis - facial dysmorphism 02-disease-root +Orphanet:2026 Gingival fibromatosis-hypertrichosis syndrome 01-disease-subtype +Orphanet:2027 Gingival fibromatosis - progressive deafness 02-disease-root +Orphanet:2028 Juvenile hyaline fibromatosis 01-disease-subtype +Orphanet:2029 Multiple non-ossifying fibromatosis 01-disease-subtype +Orphanet:202940 Anomaly of puberty or/and menstrual cycle of genetic origin 03-disease-area +Orphanet:202948 Syndromic microphthalmia 02-disease-root +Orphanet:2031 Hepatic fibrosis - renal cysts - intellectual disability 01-disease-subtype +Orphanet:2036 Scalp-ear-nipple syndrome 02-disease-root +Orphanet:2042 Tracheo-esophageal fistula - hypospadias 01-disease-subtype +Orphanet:2044 Floating-Harbor syndrome 01-disease-subtype +Orphanet:2053 Freeman-Sheldon syndrome 01-disease-subtype +Orphanet:2056 Essential fructosuria 01-disease-subtype +Orphanet:2057 Blepharophimosis - ptosis - esotropia - syndactyly - short stature 02-disease-root +Orphanet:2062 Progressive non-infectious anterior vertebral fusion 01-disease-subtype +Orphanet:2063 Splenogonadal fusion - limb defects - micrognathia 01-disease-subtype +Orphanet:2064 Posterior fusion of lumbosacral vertebrae - blepharoptosis 02-disease-root +Orphanet:206428 Hypoxanthine-guanine phosphoribosyltransferase deficiency 01-disease-subtype +Orphanet:206436 Infantile Krabbe disease 01-disease-subtype +Orphanet:206443 Late-infantile/juvenile Krabbe disease 01-disease-subtype +Orphanet:206448 Adult Krabbe disease 01-disease-subtype +Orphanet:206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers 01-disease-subtype +Orphanet:206549 Autosomal recessive limb-girdle muscular dystrophy type 2L 01-disease-subtype +Orphanet:206554 Autosomal recessive limb-girdle muscular dystrophy type 2M 01-disease-subtype +Orphanet:206559 Autosomal recessive limb-girdle muscular dystrophy type 2N 01-disease-subtype +Orphanet:206564 Autosomal recessive limb-girdle muscular dystrophy type 2O 01-disease-subtype +Orphanet:206580 Autosomal recessive lower motor neuron disease with childhood onset 01-disease-subtype +Orphanet:206583 Adult polyglucosan body disease 01-disease-subtype +Orphanet:206599 Isolated asymptomatic elevation of creatine phosphokinase 01-disease-subtype +Orphanet:2066 Gamma-aminobutyric acid transaminase deficiency 01-disease-subtype +Orphanet:206634 Genetic skeletal muscle disease 03-disease-area +Orphanet:206644 Progressive muscular dystrophy 03-disease-area +Orphanet:206647 Myotonic dystrophy 02-disease-root +Orphanet:206650 Autosomal dominant distal myopathy 02-disease-root +Orphanet:206653 Autosomal recessive distal myopathy 02-disease-root +Orphanet:206656 Non-dystrophic myopathy 03-disease-area +Orphanet:206659 Non-dystrophic myopathy with collagen 6 anomaly 01-disease-subtype +Orphanet:206662 Inclusion myopathy 02-disease-root +Orphanet:2067 GAPO syndrome 02-disease-root +Orphanet:206701 Bulbospinal muscular atrophy 03-disease-area +Orphanet:206704 Bulbospinal muscular atrophy of children 02-disease-root +Orphanet:206707 Bulbospinal muscular atrophy of adult 02-disease-root +Orphanet:206710 Generalized bulbospinal muscular atrophy 02-disease-root +Orphanet:2069 Gastrocutaneous syndrome 01-disease-subtype +Orphanet:206953 Muscular lipidosis 03-disease-area +Orphanet:206959 Muscular glycogenosis 03-disease-area +Orphanet:206966 Mitochondrial myopathy 02-disease-root +Orphanet:206970 Myotonic syndrome 03-disease-area +Orphanet:206973 Congenital myotonia 02-disease-root +Orphanet:207 Crouzon disease 01-disease-subtype +Orphanet:207012 Spinal muscular atrophy associated with central nervous system anomaly 02-disease-root +Orphanet:207015 Rare hereditary disease with peripheral neuropathy 03-disease-area +Orphanet:207018 Rare hereditary metabolic disease with peripheral neuropathy 03-disease-area +Orphanet:207021 Rare hereditary systemic disease with peripheral neuropathy 02-disease-root +Orphanet:207025 Rare hereditary neurologic disease with peripheral neuropathy 02-disease-root +Orphanet:207028 Cerebellar ataxia with peripheral neuropathy 01-disease-subtype +Orphanet:207031 Rare disease with corpus callosum agenesis associated with peripheral neuropathy 01-disease-subtype +Orphanet:207049 Qualitative or quantitative protein defects in neuromuscular diseases 03-disease-area +Orphanet:207052 Qualitative or quantitative defects of sarcoglycan 02-disease-root +Orphanet:207060 Qualitative or quantitative defects of alpha-sarcoglycan 01-disease-subtype +Orphanet:207063 Qualitative or quantitative defects of beta-sarcoglycan 01-disease-subtype +Orphanet:207067 Qualitative or quantitative defects of gamma-sarcoglycan 01-disease-subtype +Orphanet:207070 Qualitative or quantitative defects of delta-sarcoglycan 01-disease-subtype +Orphanet:207073 Qualitative or quantitative defects of dysferlin 02-disease-root +Orphanet:207078 Qualitative or quantitative defects of caveolin-3 02-disease-root +Orphanet:207085 Qualitative or quantitative defects of dystrophin 02-disease-root +Orphanet:207090 Qualitative or quantitative defects of collagen 6 02-disease-root +Orphanet:207094 Qualitative or quantitative defects of merosin 02-disease-root +Orphanet:207098 Qualitative or quantitative defects of integrin alpha-7 02-disease-root +Orphanet:207101 Qualitative or quantitative defects of perlecan 02-disease-root +Orphanet:207104 Qualitative or quantitative defects of calpain 02-disease-root +Orphanet:207107 Qualitative or quantitative defects of TRIM32 02-disease-root +Orphanet:207110 Qualitative or quantitative defects of myotubularin 02-disease-root +Orphanet:207113 Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan 01-disease-subtype +Orphanet:207119 Qualitative or quantitative defects of FKRP 01-disease-subtype +Orphanet:207122 Qualitative or quantitative defects of fukutin 01-disease-subtype +Orphanet:2072 Gaucher disease - ophthalmoplegia - cardiovascular calcification 01-disease-subtype +Orphanet:2075 Genito-palato-cardiac syndrome 02-disease-root +Orphanet:2076 X-linked intellectual disability - epilepsy 02-disease-root +Orphanet:2078 Geroderma osteodysplastica 01-disease-subtype +Orphanet:2083 Prominent glabella - microcephaly - hypogenitalism 02-disease-root +Orphanet:2084 Glaucoma - ectopia - microspherophakia - stiff joints - short stature 01-disease-subtype +Orphanet:208441 Bilateral parasagittal parieto-occipital polymicrogyria 01-disease-subtype +Orphanet:208444 Bilateral frontal polymicrogyria 01-disease-subtype +Orphanet:208447 Bilateral generalized polymicrogyria 01-disease-subtype +Orphanet:2085 Glaucoma - sleep apnea 02-disease-root +Orphanet:208508 Autosomal dominant cerebellar ataxia type 2 01-disease-subtype +Orphanet:208513 Spinocerebellar ataxia type 29 01-disease-subtype +Orphanet:208593 Genetic hypoparathyroidism 03-disease-area +Orphanet:208596 Genetic hyperparathyroidism 03-disease-area +Orphanet:208650 Cryopyrin-associated periodic syndrome 01-disease-subtype +Orphanet:2087 Glomerulonephritis - sparse hair - telangiectasis 02-disease-root +Orphanet:2088 Glycogen storage disease due to GLUT2 deficiency 02-disease-root +Orphanet:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency 01-disease-subtype +Orphanet:209 Cutis laxa 03-disease-area +Orphanet:209024 Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase 01-disease-subtype +Orphanet:209027 Qualitative or quantitative defects of protein glycosyltransferase-like 01-disease-subtype +Orphanet:209030 Qualitative or quantitative defects of protein O-mannosyltransferase 1 01-disease-subtype +Orphanet:209033 Qualitative or quantitative defects of protein O-mannosyltransferase 2 01-disease-subtype +Orphanet:209038 Qualitative or quantitative defects of myofibrillar proteins 02-disease-root +Orphanet:209041 Qualitative or quantitative defects of desmin 01-disease-subtype +Orphanet:209044 Qualitative or quantitative defects of alphaB-cristallin 01-disease-subtype +Orphanet:209047 Qualitative or quantitative defects of filamin C 01-disease-subtype +Orphanet:209050 Qualitative or quantitative defects of protein ZASP 01-disease-subtype +Orphanet:209053 Qualitative or quantitative defects of titin 02-disease-root +Orphanet:209056 Qualitative or quantitative defects of telethonin 02-disease-root +Orphanet:209059 Qualitative or quantitative defects of alpha-actin 02-disease-root +Orphanet:2091 Multinodular goiter - cystic kidney - polydactyly 02-disease-root +Orphanet:209182 Qualitative or quantitative defects of nebulin 02-disease-root +Orphanet:209185 Qualitative or quantitative defects of beta-myosin heavy chain (MYH7) 02-disease-root +Orphanet:209188 Qualitative or quantitative defects of emerin 02-disease-root +Orphanet:209193 Qualitative or quantitative defects of selenoprotein N1 02-disease-root +Orphanet:209196 Qualitative or quantitative defects of plectin 02-disease-root +Orphanet:209199 Qualitative or quantitative defects of protein SERCA1 02-disease-root +Orphanet:2092 Focal dermal hypoplasia 01-disease-subtype +Orphanet:209203 Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase - 02-disease-root +Orphanet:209224 Qualitative or quantitative defects of myotilin 02-disease-root +Orphanet:209335 Adult-onset proximal spinal muscular atrophy, autosomal dominant 01-disease-subtype +Orphanet:209341 Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures 01-disease-subtype +Orphanet:209370 Severe neonatal-onset encephalopathy with microcephaly 01-disease-subtype +Orphanet:2098 Acromesomelic dysplasia, Grebe type 01-disease-subtype +Orphanet:209867 Autosomal dominant rhegmatogenous retinal detachment 02-disease-root +Orphanet:209886 Familial juvenile hyperuricemic nephropathy type 1 01-disease-subtype +Orphanet:209893 Congenital isolated thyroxine-binding globulin deficiency 02-disease-root +Orphanet:209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency 01-disease-subtype +Orphanet:209905 Brain-lung-thyroid syndrome 01-disease-subtype +Orphanet:209908 Childhood apraxia of speech 02-disease-root +Orphanet:209932 Cone dystrophy with supernormal rod response 02-disease-root +Orphanet:209951 Autosomal recessive spastic paraplegia type 18 01-disease-subtype +Orphanet:209967 Episodic ataxia type 6 02-disease-root +Orphanet:209970 Episodic ataxia type 7 02-disease-root +Orphanet:209973 Benign familial nocturnal alternating hemiplegia of childhood 01-disease-subtype +Orphanet:209978 Alternating hemiplegia 01-disease-subtype +Orphanet:210110 Intermediate osteopetrosis 01-disease-subtype +Orphanet:210115 Sterile multifocal osteomyelitis with periostitis and pustulosis 02-disease-root +Orphanet:210122 Congenital alveolar capillary dysplasia 01-disease-subtype +Orphanet:210128 Urocanic aciduria 01-disease-subtype +Orphanet:210133 Leukonychia totalis - acanthosis-nigricans-like lesions - abnormal hair 01-disease-subtype +Orphanet:210141 Inherited congenital spastic tetraplegia 02-disease-root +Orphanet:210144 Lethal polymalformative syndrome, Boissel type 02-disease-root +Orphanet:210163 Congenital lethal myopathy, Compton-North type 01-disease-subtype +Orphanet:210548 Macrocephaly-autism syndrome 02-disease-root +Orphanet:210571 Dystonia 16 01-disease-subtype +Orphanet:211 Familial cylindromatosis 01-disease-subtype +Orphanet:2110 Hallux varus - preaxial polysyndactyly 02-disease-root +Orphanet:211017 Spinocerebellar ataxia type 30 01-disease-subtype +Orphanet:211037 Autosomal dominant proximal spinal muscular atrophy 02-disease-root +Orphanet:211062 Hereditary episodic ataxia 03-disease-area +Orphanet:211067 Episodic ataxia type 5 02-disease-root +Orphanet:211240 Genetic vascular anomaly 03-disease-area +Orphanet:2114 Hip dysplasia, Beukes type 01-disease-subtype +Orphanet:2118 Hawkinsinuria 01-disease-subtype +Orphanet:212 Cystathioninuria 01-disease-subtype +Orphanet:2124 Cavernous hemangiomas of face - supraumbilical midline raphe 02-disease-root +Orphanet:2128 Hemihypertrophy 01-disease-subtype +Orphanet:213 Cystinosis 02-disease-root +Orphanet:2130 Hemimelia 02-disease-root +Orphanet:2131 Alternating hemiplegia of childhood 01-disease-subtype +Orphanet:2132 Hemoglobin C disease 02-disease-root +Orphanet:2133 Hemoglobin E disease 02-disease-root +Orphanet:2134 Atypical hemolytic-uremic syndrome 01-disease-subtype +Orphanet:213517 Familial ovarian cancer 02-disease-root +Orphanet:213524 Hereditary site-specific ovarian cancer syndrome 01-disease-subtype +Orphanet:214 Cystinuria 01-disease-subtype +Orphanet:2141 Diaphragmatic defect - limb deficiency - skull defect 02-disease-root +Orphanet:2145 Craniosynostosis, Herrmann-Opitz type 02-disease-root +Orphanet:2148 Lissencephaly type 1 due to doublecortin gene mutation 01-disease-subtype +Orphanet:2149 Nodular neuronal heterotopia 02-disease-root +Orphanet:215 Congenital stationary night blindness 01-disease-subtype +Orphanet:2150 Hirschsprung disease - type D brachydactyly 01-disease-subtype +Orphanet:2151 Hirschsprung disease - ganglioneuroblastoma 01-disease-subtype +Orphanet:2153 Hirschsprung disease - nail hypoplasia - dysmorphism 01-disease-subtype +Orphanet:2155 Hirschsprung disease - deafness - polydactyly 01-disease-subtype +Orphanet:2156 Hirsutism-skeletal dysplasia-intellectual disability syndrome 02-disease-root +Orphanet:2157 Histidinemia 01-disease-subtype +Orphanet:216 Neuronal ceroid lipofuscinosis 02-disease-root +Orphanet:2162 Holoprosencephaly 01-disease-subtype +Orphanet:2163 Holoprosencephaly - craniosynostosis 02-disease-root +Orphanet:216445 Prelingual non-syndromic genetic deafness 01-disease-subtype +Orphanet:216452 Postlingual non-syndromic genetic deafness 01-disease-subtype +Orphanet:2166 Holoprosencephaly - postaxial polydactyly 02-disease-root +Orphanet:216718 Isolated congenitally uncorrected transposition of the great arteries 01-disease-subtype +Orphanet:216729 Congenitally uncorrected transposition of the great arteries with cardiac malformation 01-disease-subtype +Orphanet:216796 Osteogenesis imperfecta type 1 01-disease-subtype +Orphanet:2168 Homocarnosinosis 01-disease-subtype +Orphanet:216804 Osteogenesis imperfecta type 2 01-disease-subtype +Orphanet:216812 Osteogenesis imperfecta type 3 01-disease-subtype +Orphanet:216820 Osteogenesis imperfecta type 4 01-disease-subtype +Orphanet:216828 Osteogenesis imperfecta type 5 01-disease-subtype +Orphanet:216866 Classic pantothenate kinase-associated neurodegeneration 01-disease-subtype +Orphanet:216873 Atypical pantothenate kinase-associated neurodegeneration 01-disease-subtype +Orphanet:2169 Methylcobalamin deficiency type cblE 01-disease-subtype +Orphanet:2170 Methylcobalamin deficiency type cblG 01-disease-subtype +Orphanet:217012 Spinocerebellar ataxia type 31 01-disease-subtype +Orphanet:217023 Atypical hemolytic-uremic syndrome with thrombomodulin anomaly 01-disease-subtype +Orphanet:217026 Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type 01-disease-subtype +Orphanet:217031 Obesity due to MC3R deficiency 01-disease-subtype +Orphanet:217049 Rare non-syndromic cataract 02-disease-root +Orphanet:217052 Early-onset non-syndromic cataract 01-disease-subtype +Orphanet:217055 Autosomal recessive intermediate Charcot-Marie-Tooth disease type A 01-disease-subtype +Orphanet:217059 Isolated congenital digital clubbing 01-disease-subtype +Orphanet:217085 Mucopolysaccharidosis type 2, severe form 01-disease-subtype +Orphanet:217093 Mucopolysaccharidosis type 2, attenuated form 01-disease-subtype +Orphanet:2172 Microcephaly - glomerulonephritis - marfanoid habitus 02-disease-root +Orphanet:217330 Hyperuricemia - anemia - renal failure 02-disease-root +Orphanet:217335 MACS syndrome 02-disease-root +Orphanet:217340 17q21.31 microduplication syndrome 01-disease-subtype +Orphanet:217346 19q13.11 microdeletion syndrome 01-disease-subtype +Orphanet:217371 Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 01-disease-subtype +Orphanet:217377 Microduplication Xp11.22-p11.23 syndrome 01-disease-subtype +Orphanet:217382 Neurodegenerative syndrome due to cerebral folate transport deficiency 01-disease-subtype +Orphanet:217385 17p13.3 microduplication syndrome 01-disease-subtype +Orphanet:217390 Combined immunodeficiency due to DOCK8 deficiency 01-disease-subtype +Orphanet:217396 Progressive demyelinating neuropathy with bilateral striatal necrosis 02-disease-root +Orphanet:217399 Congenital insensitivity to pain with hyperhidrosis 02-disease-root +Orphanet:217407 Hereditary hypotrichosis with recurrent skin vesicles 02-disease-root +Orphanet:217454 Rare hereditary thrombophilia 01-disease-subtype +Orphanet:217467 Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency 01-disease-subtype +Orphanet:217563 Neonatal acute respiratory distress with surfactant metabolism deficiency 01-disease-subtype +Orphanet:217566 Chronic respiratory distress with surfactant metabolism deficiency 01-disease-subtype +Orphanet:217572 Glycogen storage disease with hypertrophic cardiomyopathy 02-disease-root +Orphanet:217581 Lysosomal disease with hypertrophic cardiomyopathy 02-disease-root +Orphanet:217587 Mitochondrial disease with hypertrophic cardiomyopathy 02-disease-root +Orphanet:217591 Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy 02-disease-root +Orphanet:217595 Syndrome associated with hypertrophic cardiomyopathy 02-disease-root +Orphanet:2176 Infantile systemic hyalinosis 01-disease-subtype +Orphanet:217607 Familial dilated cardiomyopathy 01-disease-subtype +Orphanet:217610 Neuromuscular disease with dilated cardiomyopathy 01-disease-subtype +Orphanet:217613 Mitochondrial disease with dilated cardiomyopathy 01-disease-subtype +Orphanet:217616 Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy 01-disease-subtype +Orphanet:217619 Syndrome associated with dilated cardiomyopathy 01-disease-subtype +Orphanet:217622 Sensorineural deafness with dilated cardiomyopathy 01-disease-subtype +Orphanet:217635 Familial restrictive cardiomyopathy 01-disease-subtype +Orphanet:217638 Lysosomal disease with restrictive cardiomyopathy 01-disease-subtype +Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia 01-disease-subtype +Orphanet:2177 Hydranencephaly 01-disease-subtype +Orphanet:2180 Hydrocephalus - costovertebral dysplasia - Sprengel anomaly 02-disease-root +Orphanet:2181 Hydrocephaly - tall stature - joint laxity 02-disease-root +Orphanet:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius 01-disease-subtype +Orphanet:2183 Hydrocephalus - obesity - hypogonadism 01-disease-subtype +Orphanet:2185 Congenital hydrocephalus 02-disease-root +Orphanet:2186 Hydrocephalus - blue sclerae - nephropathy 02-disease-root +Orphanet:2189 Hydrolethalus 02-disease-root +Orphanet:219 Autosomal recessive limb-girdle muscular dystrophy type 2F 01-disease-subtype +Orphanet:2190 Congenital hydronephrosis 01-disease-subtype +Orphanet:2195 Dicarboxylic aminoaciduria 01-disease-subtype +Orphanet:2197 Idiopathic hypercalciuria 02-disease-root +Orphanet:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome 01-disease-subtype +Orphanet:2199 Epidermolytic palmoplantar keratoderma 01-disease-subtype +Orphanet:2200 Focal palmoplantar and gingival keratoderma 01-disease-subtype +Orphanet:2201 Palmoplantar keratoderma-spastic paralysis syndrome 01-disease-subtype +Orphanet:2202 Palmoplantar keratoderma-deafness syndrome 01-disease-subtype +Orphanet:220295 Xeroderma pigmentosum-Cockayne syndrome complex 01-disease-subtype +Orphanet:2203 Hyperlysinemia 01-disease-subtype +Orphanet:220386 Semilobar holoprosencephaly 01-disease-subtype +Orphanet:2204 Dysplastic cortical hyperostosis 01-disease-subtype +Orphanet:220443 Bleeding diathesis due to thromboxane synthesis deficiency 01-disease-subtype +Orphanet:220448 Macrothrombocytopenia with mitral valve insufficiency 01-disease-subtype +Orphanet:220452 Inherited giant platelet disorder 01-disease-subtype +Orphanet:220460 Attenuated familial adenomatous polyposis 02-disease-root +Orphanet:220489 Rare hereditary hemochromatosis 01-disease-subtype +Orphanet:2207 Familial primary hyperparathyroidism 02-disease-root +Orphanet:2209 Maternal hyperphenylalaninemia 01-disease-subtype +Orphanet:221039 Hereditary sclerosing poikiloderma, Weary type 01-disease-subtype +Orphanet:221043 Hereditary sclerosing poikiloderma with tendon and pulmonary involvement 01-disease-subtype +Orphanet:221046 Poikiloderma with neutropenia 01-disease-subtype +Orphanet:221054 Acrocephalopolydactyly 02-disease-root +Orphanet:2211 Hypertelorism - hypospadias - polysyndactyly syndrome 02-disease-root +Orphanet:221120 Pseudoaminopterin syndrome 02-disease-root +Orphanet:221139 Combined immunodeficiency with facio-oculo-skeletal anomalies 02-disease-root +Orphanet:221145 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies 02-disease-root +Orphanet:2213 Hypertelorism-microtia-facial clefting syndrome 02-disease-root +Orphanet:2218 Cervical hypertrichosis - peripheral neuropathy 01-disease-subtype +Orphanet:2220 Hypertrichosis cubiti - short stature 01-disease-subtype +Orphanet:2222 Hypertrichosis lanuginosa congenita 01-disease-subtype +Orphanet:2224 Hypertryptophanemia 01-disease-subtype +Orphanet:222628 Hereditary poikiloderma 02-disease-root +Orphanet:2228 Hypodontia - dysplasia of nails 02-disease-root +Orphanet:2229 Dilated cardiomyopathy - hypergonadotropic hypogonadism 01-disease-subtype +Orphanet:223 Nephrogenic diabetes insipidus 02-disease-root +Orphanet:2230 Hypogonadotropic hypogonadism - frontoparietal alopecia 01-disease-subtype +Orphanet:2232 Primary hypergonadotropic hypogonadism - partial alopecia 02-disease-root +Orphanet:2233 Hypogonadism - mitral valve prolapse - intellectual disability 02-disease-root +Orphanet:2234 Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies 02-disease-root +Orphanet:2235 Hypogonadotropic hypogonadism - retinitis pigmentosa 01-disease-subtype +Orphanet:2237 Hypoparathyroidism - deafness - renal disease 01-disease-subtype +Orphanet:223713 Mitochondrial oxidative phosphorylation disorder 03-disease-area +Orphanet:2238 Familial isolated hypoparathyroidism 01-disease-subtype +Orphanet:2239 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland 01-disease-subtype +Orphanet:224 Neonatal diabetes mellitus 02-disease-root +Orphanet:2249 Ulna hypoplasia - intellectual disability 02-disease-root +Orphanet:225 Maternally-inherited diabetes and deafness 01-disease-subtype +Orphanet:2250 Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism 01-disease-subtype +Orphanet:2251 Thumb deformity - alopecia - pigmentation anomaly 02-disease-root +Orphanet:225123 Hemochromatosis type 3 01-disease-subtype +Orphanet:225147 Sporadic infantile bilateral striatal necrosis 01-disease-subtype +Orphanet:225154 Familial infantile bilateral striatal necrosis 01-disease-subtype +Orphanet:2252 Radial hypoplasia - triphalangeal thumbs - hypospadias - maxillary diastema 02-disease-root +Orphanet:2253 Foveal hypoplasia - presenile cataract 02-disease-root +Orphanet:2254 Pontocerebellar hypoplasia type 1 01-disease-subtype +Orphanet:2255 Pancreatic hypoplasia - diabetes - congenital heart disease 02-disease-root +Orphanet:2256 Fibulo-ulnar hypoplasia - renal anomalies 02-disease-root +Orphanet:2257 Familial primary pulmonary hypoplasia 02-disease-root +Orphanet:225703 Mitochondrial disease with peripheral neuropathy 03-disease-area +Orphanet:226 Dihydropteridine reductase deficiency 01-disease-subtype +Orphanet:2261 Hypospadias - intellectual disability, Goldblatt type 02-disease-root +Orphanet:226292 Permanent congenital hypothyroidism 02-disease-root +Orphanet:226295 Primary congenital hypothyroidism 01-disease-subtype +Orphanet:226298 Central congenital hypothyroidism 01-disease-subtype +Orphanet:226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function 01-disease-subtype +Orphanet:226310 Peripheral hypothyroidism 01-disease-subtype +Orphanet:226316 Genetic transient congenital hypothyroidism 02-disease-root +Orphanet:2266 Hypotrichosis-intellectual disability, Lopes type 02-disease-root +Orphanet:2267 Ichthyosis-cheek-eyebrow syndrome 01-disease-subtype +Orphanet:2268 ICF syndrome 01-disease-subtype +Orphanet:2269 Ichthyosis - alopecia - eclabion - ectropion - intellectual disability 01-disease-subtype +Orphanet:2271 Congenital ichthyosis - microcephalus - tetraplegia 01-disease-subtype +Orphanet:2272 Ichthyosis - oral and digital anomalies 01-disease-subtype +Orphanet:2274 Ichthyosis - hepatosplenomegaly - cerebellar degeneration 01-disease-subtype +Orphanet:227535 Hereditary breast cancer 01-disease-subtype +Orphanet:227786 Familial flecked retinopathy 03-disease-area +Orphanet:227796 Fundus albipunctatus 02-disease-root +Orphanet:2278 Ichthyosis - intellectual disability - dwarfism - renal impairment 01-disease-subtype +Orphanet:227976 Autosomal recessive optic atrophy, OPA7 type 01-disease-subtype +Orphanet:228000 Idiopathic CD4 lymphocytopenia 02-disease-root +Orphanet:228003 Severe combined immunodeficiency due to CORO1A deficiency 01-disease-subtype +Orphanet:228012 Progressive sensorineural hearing loss - hypertrophic cardiomyopathy 01-disease-subtype +Orphanet:228140 Idiopathic ventricular fibrillation, not Brugada type 02-disease-root +Orphanet:228169 Autosomal dominant striatal neurodegeneration 01-disease-subtype +Orphanet:228174 Autosomal dominant Charcot-Marie-Tooth disease type 2N 01-disease-subtype +Orphanet:228179 Autosomal dominant Charcot-Marie-Tooth disease type 2M 01-disease-subtype +Orphanet:228184 Heart-hand syndrome 02-disease-root +Orphanet:228190 Patent ductus arteriosus - bicuspid aortic valve - hand anomalies 01-disease-subtype +Orphanet:2282 Dysmorphism - short stature - deafness - disorder of sex development 01-disease-subtype +Orphanet:228215 Genetic dermis elastic tissue disorder 03-disease-area +Orphanet:228277 Familial anetoderma 02-disease-root +Orphanet:228302 Carnitine palmitoyl transferase II deficiency, myopathic form 01-disease-subtype +Orphanet:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form 01-disease-subtype +Orphanet:228308 Carnitine palmitoyl transferase II deficiency, neonatal form 01-disease-subtype +Orphanet:228329 CLN1 disease 01-disease-subtype +Orphanet:228337 CLN10 disease 01-disease-subtype +Orphanet:228340 CLN4A disease 01-disease-subtype +Orphanet:228343 CLN4B disease 01-disease-subtype +Orphanet:228346 CLN3 disease 01-disease-subtype +Orphanet:228349 CLN2 disease 01-disease-subtype +Orphanet:228354 CLN8 disease 01-disease-subtype +Orphanet:228357 CLN9 disease 01-disease-subtype +Orphanet:228360 CLN5 disease 01-disease-subtype +Orphanet:228363 CLN6 disease 01-disease-subtype +Orphanet:228366 CLN7 disease 01-disease-subtype +Orphanet:228374 Severe early-onset axonal neuropathy due to NEFL deficiency 01-disease-subtype +Orphanet:228387 Spondylo-megaepiphyseal-metaphyseal dysplasia 02-disease-root +Orphanet:228390 Frontonasal dysplasia with alopecia and genital anomaly 01-disease-subtype +Orphanet:228396 Ptosis - upper ocular movement limitation - absence of lacrimal punctum 01-disease-subtype +Orphanet:228410 Polyvalvular heart disease syndrome 01-disease-subtype +Orphanet:228418 Microcephaly - seizures - developmental delay 01-disease-subtype +Orphanet:228423 Monocytopenia with susceptibility to infections 02-disease-root +Orphanet:228426 Syndromic multisystem autoimmune disease due to Itch deficiency 02-disease-root +Orphanet:228429 Generalized congenital lipodystrophy with myopathy 01-disease-subtype +Orphanet:2285 Primary basilar impression 01-disease-subtype +Orphanet:2286 Solitary median maxillary central incisor syndrome 01-disease-subtype +Orphanet:2287 Fused mandibular incisors 01-disease-subtype +Orphanet:2289 Neuronal intranuclear inclusion disease 02-disease-root +Orphanet:2290 Microvillus inclusion disease 01-disease-subtype +Orphanet:2292 Congenital bowing of long bones 01-disease-subtype +Orphanet:2297 Insulin-resistance syndrome type A 01-disease-subtype +Orphanet:229717 Isolated agammaglobulinemia 01-disease-subtype +Orphanet:229720 Syndromic agammaglobulinemia 01-disease-subtype +Orphanet:2298 Insulin-resistance syndrome type B 01-disease-subtype +Orphanet:23 Argininosuccinic aciduria 01-disease-subtype +Orphanet:230 Dopamine beta-hydroxylase deficiency 01-disease-subtype +Orphanet:2300 Multiple intestinal atresia 01-disease-subtype +Orphanet:2301 Congenital short bowel syndrome 01-disease-subtype +Orphanet:2306 Isotretinoin-like syndrome 02-disease-root +Orphanet:2309 Pachyonychia congenita 01-disease-subtype +Orphanet:2310 Absence deformity of leg - cataract 02-disease-root +Orphanet:231013 Congenital trigeminal anesthesia 02-disease-root +Orphanet:231031 Erythema palmaris hereditarium 02-disease-root +Orphanet:231040 Familial generalized lentiginosis 01-disease-subtype +Orphanet:2311 Autosomal recessive spondylocostal dysostosis 01-disease-subtype +Orphanet:231108 Familial rhabdoid tumor 02-disease-root +Orphanet:231137 Silver-Russell syndrome due to 7p11.2p13 microduplication 01-disease-subtype +Orphanet:231140 Silver-Russell syndrome due to imprinting defect of 11p15 01-disease-subtype +Orphanet:231144 Silver-Russell syndrome due to 11p15 microduplication 01-disease-subtype +Orphanet:231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 01-disease-subtype +Orphanet:231154 Combined immunodeficiency T+ B+ due to partial RAG1 deficiency 02-disease-root +Orphanet:231160 Familial cerebral saccular aneurysm 02-disease-root +Orphanet:2312 Transient familial neonatal hyperbilirubinemia 02-disease-root +Orphanet:231214 Beta-thalassemia major 01-disease-subtype +Orphanet:231222 Beta-thalassemia intermedia 01-disease-subtype +Orphanet:231226 Dominant beta-thalassemia 01-disease-subtype +Orphanet:231230 Beta-thalassemia associated with another hemoglobin anomaly 01-disease-subtype +Orphanet:231237 Delta-beta-thalassemia 01-disease-subtype +Orphanet:231242 Hemoglobin C - beta-thalassemia 01-disease-subtype +Orphanet:231249 Hemoglobin E - beta-thalassemia 01-disease-subtype +Orphanet:231386 Beta-thalassemia with other manifestations 01-disease-subtype +Orphanet:231393 Beta-thalassemia - X-linked thrombocytopenia 01-disease-subtype +Orphanet:2314 Autosomal dominant hyper-IgE syndrome 01-disease-subtype +Orphanet:231401 Alpha-thalassemia - myelodysplastic syndrome 01-disease-subtype +Orphanet:231531 Hermansky-Pudlak syndrome type 7 01-disease-subtype +Orphanet:231537 Hermansky-Pudlak syndrome type 8 01-disease-subtype +Orphanet:231556 Late-onset localized junctional epidermolysis bullosa - intellectual disability 01-disease-subtype +Orphanet:231568 Generalized dominant dystrophic epidermolysis bullosa 01-disease-subtype +Orphanet:231662 Isolated growth hormone deficiency type IA 01-disease-subtype +Orphanet:231671 Isolated growth hormone deficiency type IB 01-disease-subtype +Orphanet:231679 Isolated growth hormone deficiency type II 01-disease-subtype +Orphanet:231692 Isolated growth hormone deficiency type III 01-disease-subtype +Orphanet:231720 Non-acquired combined pituitary hormone deficiency with spine abnormalities 01-disease-subtype +Orphanet:231742 Epibulbar lipodermoid - preauricular appendage - polythelia 02-disease-root +Orphanet:232 Sickle cell anemia 02-disease-root +Orphanet:232288 Alpha-thalassemia-related diseases 01-disease-subtype +Orphanet:2323 Sanjad-Sakati syndrome 01-disease-subtype +Orphanet:2324 Kaler-Garrity-Stern syndrome 01-disease-subtype +Orphanet:2325 Epidermolysis bullosa simplex with anodontia/hypodontia 01-disease-subtype +Orphanet:2326 Kallmann syndrome - heart disease 01-disease-subtype +Orphanet:2328 Kapur-Toriello syndrome 02-disease-root +Orphanet:2334 Autosomal dominant keratitis 02-disease-root +Orphanet:233655 Rare genetic vascular disease 03-disease-area +Orphanet:2337 Non-epidermolytic palmoplantar keratoderma 01-disease-subtype +Orphanet:2338 Isolated punctate palmoplantar keratoderma 01-disease-subtype +Orphanet:2339 Keratosis follicularis - dwarfism - cerebral atrophy 02-disease-root +Orphanet:2340 Keratosis follicularis spinulosa decalvans 01-disease-subtype +Orphanet:2343 Isolated cloverleaf skull syndrome 01-disease-subtype +Orphanet:2345 Isolated Klippel-Feil syndrome 01-disease-subtype +Orphanet:2346 Angioosteohypertrophic syndrome 01-disease-subtype +Orphanet:2347 Lethal Kniest-like dysplasia 01-disease-subtype +Orphanet:2348 Familial partial lipodystrophy, Dunnigan type 01-disease-subtype +Orphanet:2349 Muscular pseudohypertrophy - hypothyroidism 01-disease-subtype +Orphanet:2356 Arachnoid cyst 02-disease-root +Orphanet:235832 Congenital vascular bone syndrome 02-disease-root +Orphanet:236 Trisomy 9p 01-disease-subtype +Orphanet:2363 Lacrimoauriculodentodigital syndrome 01-disease-subtype +Orphanet:2364 Glycogen storage disease due to lactate dehydrogenase deficiency 02-disease-root +Orphanet:237 Duplication of urethra 02-disease-root +Orphanet:2370 Larsen-like osseous dysplasia - short stature 01-disease-subtype +Orphanet:2371 Lethal Larsen-like syndrome 01-disease-subtype +Orphanet:2373 Congenital laryngomalacia 02-disease-root +Orphanet:2374 Congenital laryngeal web 02-disease-root +Orphanet:2375 Laryngeal abductor paralysis - intellectual disability 02-disease-root +Orphanet:2378 Laurin-Sandrow syndrome 02-disease-root +Orphanet:2379 Early-onset parkinsonism - intellectual disability 01-disease-subtype +Orphanet:238 Digestive duplication 01-disease-subtype +Orphanet:2380 Legg-Calvé-Perthes disease 01-disease-subtype +Orphanet:238329 Severe X-linked mitochondrial encephalomyopathy 01-disease-subtype +Orphanet:238455 Infantile dystonia-parkinsonism 01-disease-subtype +Orphanet:238505 Autosomal recessive lymphoproliferative disease 01-disease-subtype +Orphanet:238510 Lymphoproliferative syndrome 03-disease-area +Orphanet:238517 Hypotonia - cystinuria type 1 01-disease-subtype +Orphanet:238523 Atypical hypotonia - cystinuria syndrome 01-disease-subtype +Orphanet:238536 Congenital secondary polycythemia 01-disease-subtype +Orphanet:238557 Chuvash erythrocytosis 01-disease-subtype +Orphanet:238569 Autosomal recessive early-onset inflammatory bowel disease 01-disease-subtype +Orphanet:238578 Familial clubfoot due to 17q23.1q23.2 microduplication 01-disease-subtype +Orphanet:238583 Hyperphenylalaninemia 01-disease-subtype +Orphanet:2386 Leukoencephalopathy-palmoplantar keratoderma syndrome 01-disease-subtype +Orphanet:238642 Primary megaureter, adult-onset form 01-disease-subtype +Orphanet:238646 Congenital primary megaureter, obstructed form 01-disease-subtype +Orphanet:238650 Congenital primary megaureter, refluxing form 01-disease-subtype +Orphanet:238654 Congenital primary megaureter, nonrefluxing and unobstructed form 01-disease-subtype +Orphanet:238666 Isolated congenital hypogonadotropic hypogonadism 01-disease-subtype +Orphanet:238670 Isolated thyrotropin-releasing hormone deficiency 01-disease-subtype +Orphanet:2387 Leukonychia totalis 01-disease-subtype +Orphanet:238722 Familial congenital mirror movements 02-disease-root +Orphanet:238744 Mammary-digital-nail syndrome 02-disease-root +Orphanet:238750 4q21 microdeletion syndrome 01-disease-subtype +Orphanet:238755 Autosomal dominant limb-girdle muscular dystrophy type 1H 01-disease-subtype +Orphanet:238763 Glaucoma secondary to spherophakia/ectopia lentis and megalocornea 02-disease-root +Orphanet:238766 Ptosis - syndactyly - learning difficulties 02-disease-root +Orphanet:2388 Choreoacanthocytosis 01-disease-subtype +Orphanet:2390 Lichstenstein syndrome 01-disease-subtype +Orphanet:2394 Pyruvate dehydrogenase E3 deficiency 01-disease-subtype +Orphanet:2396 Encephalocraniocutaneous lipomatosis 01-disease-subtype +Orphanet:24 Fumaric aciduria 01-disease-subtype +Orphanet:240 Léri-Weill dyschondrosteosis 01-disease-subtype +Orphanet:240071 Classical progressive supranuclear palsy 01-disease-subtype +Orphanet:240085 Progressive supranuclear palsy - parkinsonism 01-disease-subtype +Orphanet:240094 Progressive supranuclear palsy - pure akinesia with gait freezing 01-disease-subtype +Orphanet:240103 Progressive supranuclear palsy - corticobasal syndrome 01-disease-subtype +Orphanet:240112 Progressive supranuclear palsy - progressive non fluent aphasia 01-disease-subtype +Orphanet:240371 Syndromic obesity 02-disease-root +Orphanet:2405 Thickened earlobes - conductive deafness 02-disease-root +Orphanet:2407 LOC syndrome 01-disease-subtype +Orphanet:241 Dyschromatosis universalis 01-disease-subtype +Orphanet:2410 Hypergonadotropic hypogonadism - cataract syndrome 02-disease-root +Orphanet:2412 Dislocation of the hip - dysmorphism 02-disease-root +Orphanet:2414 Congenital pulmonary lymphangiectasia 01-disease-subtype +Orphanet:2427 Macrocephaly - short stature - paraplegia 02-disease-root +Orphanet:2429 Macrocephaly - spastic paraplegia - dysmorphism 01-disease-subtype +Orphanet:243 46,XX gonadal dysgenesis 01-disease-subtype +Orphanet:2430 Congenital macroglossia 01-disease-subtype +Orphanet:2431 Central bilateral macrogyria 01-disease-subtype +Orphanet:2432 Macrosomia - microphthalmia - cleft palate 02-disease-root +Orphanet:243343 Dimethylglycine dehydrogenase deficiency 01-disease-subtype +Orphanet:2435 Hypo- and hypermelanotic cutaneous macules - retarded growth - intellectual disability 02-disease-root +Orphanet:2437 Split hand - urinary anomalies - spina bifida 02-disease-root +Orphanet:2438 Hand-foot-genital syndrome 02-disease-root +Orphanet:244 Primary ciliary dyskinesia 02-disease-root +Orphanet:2440 Split hand-split foot malformation 01-disease-subtype +Orphanet:2442 X-linked lymphoproliferative disease 01-disease-subtype +Orphanet:2443 Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies 03-disease-area +Orphanet:244305 Dominant hypophosphatemia with nephrolithiasis or osteoporosis 01-disease-subtype +Orphanet:2445 Conotruncal heart malformations 02-disease-root +Orphanet:245 Nager syndrome 01-disease-subtype +Orphanet:2451 Mucocutaneous venous malformations 02-disease-root +Orphanet:2454 Familial intestinal malrotation - facial anomalies 01-disease-subtype +Orphanet:2457 Mandibuloacral dysplasia 01-disease-subtype +Orphanet:246 Postaxial acrofacial dysostosis 01-disease-subtype +Orphanet:2460 Van den Ende-Gupta syndrome 01-disease-subtype +Orphanet:2463 Marfanoid habitus - intellectual disability, autosomal recessive 02-disease-root +Orphanet:2464 Marfanoid syndrome, De Silva type 01-disease-subtype +Orphanet:247 Arrhythmogenic right ventricular dysplasia 02-disease-root +Orphanet:247198 Progressive cerebello-cerebral atrophy 02-disease-root +Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome 01-disease-subtype +Orphanet:247378 Autosomal recessive secondary polycythemia not associated with VHL gene 01-disease-subtype +Orphanet:2475 White forelock with malformations 02-disease-root +Orphanet:247511 Autosomal dominant secondary polycythemia 01-disease-subtype +Orphanet:247522 Primary ciliary dyskinesia - retinitis pigmentosa 01-disease-subtype +Orphanet:247525 Citrullinemia type I 01-disease-subtype +Orphanet:247546 Acute neonatal citrullinemia type I 01-disease-subtype +Orphanet:247573 Adult-onset citrullinemia type I 01-disease-subtype +Orphanet:247582 Citrin deficiency 01-disease-subtype +Orphanet:247585 Citrullinemia type II 01-disease-subtype +Orphanet:247598 Neonatal intrahepatic cholestasis due to citrin deficiency 01-disease-subtype +Orphanet:2476 Medeira-Dennis-Donnai syndrome 02-disease-root +Orphanet:247604 Juvenile primary lateral sclerosis 02-disease-root +Orphanet:247623 Perinatal lethal hypophosphatasia 01-disease-subtype +Orphanet:247685 Odontohypophosphatasia 01-disease-subtype +Orphanet:247691 Retinal vasculopathy and cerebral leukodystrophy 02-disease-root +Orphanet:247698 Multiple endocrine neoplasia type 2A 01-disease-subtype +Orphanet:247709 Multiple endocrine neoplasia type 2B 01-disease-subtype +Orphanet:247790 FTH1-related iron overload 01-disease-subtype +Orphanet:247794 Juvenile cataract - microcornea - renal glucosuria 01-disease-subtype +Orphanet:2478 Megalencephalic leukoencephalopathy with subcortical cysts 02-disease-root +Orphanet:247815 Autosomal recessive ataxia due to PEX10 deficiency 01-disease-subtype +Orphanet:247820 Ectodermal dysplasia - syndactyly syndrome 02-disease-root +Orphanet:247827 Ectodermal dysplasia - cutaneous syndactyly syndrome 02-disease-root +Orphanet:247834 Occult macular dystrophy 01-disease-subtype +Orphanet:247868 NLRP12-associated hereditary periodic fever syndrome 01-disease-subtype +Orphanet:2479 Megalocornea-intellectual disability syndrome 02-disease-root +Orphanet:248 Autosomal recessive hypohidrotic ectodermal dysplasia 01-disease-subtype +Orphanet:248095 Primary hypertrophic osteoarthropathy 01-disease-subtype +Orphanet:248111 Juvenile Huntington disease 01-disease-subtype +Orphanet:248296 Constitutional deficiency anemia 03-disease-area +Orphanet:248305 Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency 01-disease-subtype +Orphanet:248340 Isolated delta-storage pool disease 01-disease-subtype +Orphanet:248361 Rare thrombotic disorder due to a constitutional coagulation factors defect 02-disease-root +Orphanet:2484 Osteodysplasty, Melnick-Needles type 01-disease-subtype +Orphanet:248401 Rare thrombotic disorder due to a constitutional platelet anomaly 02-disease-root +Orphanet:248408 Familial hypodysfibrinogenemia 01-disease-subtype +Orphanet:2485 Melorheostosis 01-disease-subtype +Orphanet:2487 Lower limb deficiency - hypospadias 02-disease-root +Orphanet:2489 Upper limb defect - eye and ear abnormalities 02-disease-root +Orphanet:2491 Müllerian duct anomalies - limb anomalies 02-disease-root +Orphanet:2495 Meningioma 02-disease-root +Orphanet:2496 Mesomelia-synostoses syndrome 01-disease-subtype +Orphanet:2497 Upper limb mesomelic dysplasia 01-disease-subtype +Orphanet:2498 Syndactyly type 8 02-disease-root +Orphanet:2499 Metachondromatosis 01-disease-subtype +Orphanet:25 Glutaryl-CoA dehydrogenase deficiency 01-disease-subtype +Orphanet:250 Frontonasal dysplasia 01-disease-subtype +Orphanet:2500 Acrogeria 02-disease-root +Orphanet:2501 Metaphyseal chondrodysplasia, Spahr type 01-disease-subtype +Orphanet:250165 Genetic polycythemia 01-disease-subtype +Orphanet:2502 Metaphyseal dysostosis - intellectual disability - conductive deafness 01-disease-subtype +Orphanet:2504 Metaphyseal dysplasia - maxillary hypoplasia - brachydacty 01-disease-subtype +Orphanet:2505 Multiple benign circumferential skin creases on limbs 02-disease-root +Orphanet:250923 Isolated aniridia 01-disease-subtype +Orphanet:250932 Autosomal dominant optic atrophy and peripheral neuropathy 01-disease-subtype +Orphanet:250972 Polymicrogyria with optic nerve hypoplasia 01-disease-subtype +Orphanet:250984 Autosomal recessive Stickler syndrome 01-disease-subtype +Orphanet:250989 1q21.1 microdeletion syndrome 01-disease-subtype +Orphanet:250994 1q21.1 microduplication syndrome 01-disease-subtype +Orphanet:251 Multiple epiphyseal dysplasia 01-disease-subtype +Orphanet:2510 Micro syndrome 01-disease-subtype +Orphanet:251004 Paternal uniparental disomy of chromosome 1 01-disease-subtype +Orphanet:251009 Maternal uniparental disomy of chromosome 1 01-disease-subtype +Orphanet:251038 3q29 microduplication 01-disease-subtype +Orphanet:251043 Ring chromosome 5 01-disease-subtype +Orphanet:251076 8p23.1 microduplication syndrome 01-disease-subtype +Orphanet:2511 Microbrachycephaly - ptosis - cleft lip 02-disease-root +Orphanet:2512 Autosomal recessive primary microcephaly 01-disease-subtype +Orphanet:251262 Familial osteochondritis dissecans 01-disease-subtype +Orphanet:251274 Familial hyperaldosteronism type III 01-disease-subtype +Orphanet:251279 Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen 01-disease-subtype +Orphanet:251287 Benign concentric annular macular dystrophy 01-disease-subtype +Orphanet:251290 Parietal foramina with cleidocranial dysplasia 01-disease-subtype +Orphanet:251295 Pigmented paravenous retinochoroidal atrophy 02-disease-root +Orphanet:2513 Microcephaly - albinism - digital anomalies 02-disease-root +Orphanet:251347 Ataxia-telangiectasia-like disorder 01-disease-subtype +Orphanet:251355 Sickle cell disease associated with an other hemoglobin anomaly 01-disease-subtype +Orphanet:251359 Sickle cell - beta-thalassemia disease 01-disease-subtype +Orphanet:251365 Sickle cell - hemoglobin C disease 01-disease-subtype +Orphanet:251370 Sickle cell - hemoglobin D disease 01-disease-subtype +Orphanet:251375 Sickle cell - hemoglobin E disease 01-disease-subtype +Orphanet:251393 Localized junctional epidermolysis bullosa, non-Herlitz type 01-disease-subtype +Orphanet:2514 Autosomal dominant microcephaly 01-disease-subtype +Orphanet:2515 Microcephaly - cardiomyopathy 01-disease-subtype +Orphanet:251515 Distal arthrogryposis type 10 01-disease-subtype +Orphanet:251523 Recurrent infections - inflammatory syndrome due to zinc metabolism disorder 01-disease-subtype +Orphanet:2516 Microcephaly - cardiac defect - lung malsegmentation 01-disease-subtype +Orphanet:2519 Microcephaly - seizures - intellectual disability - heart disease 02-disease-root +Orphanet:2521 Microcephaly - cleft palate 02-disease-root +Orphanet:2522 Microcephaly - cervical spine fusion anomalies 01-disease-subtype +Orphanet:252202 Constitutional mismatch repair deficiency syndrome 02-disease-root +Orphanet:2523 Microcephaly - brain defect - spasticity - hypernatremia 01-disease-subtype +Orphanet:2524 Pontocerebellar hypoplasia type 2 01-disease-subtype +Orphanet:2528 Microcephaly-microcornea syndrome, Seemanova type 01-disease-subtype +Orphanet:253 Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia 03-disease-area +Orphanet:2533 Microcephaly - deafness - intellectual disability 02-disease-root +Orphanet:2535 Microcornea - corectopia - macular hypoplasia 02-disease-root +Orphanet:2536 Microcornea - glaucoma - absent frontal sinuses 02-disease-root +Orphanet:254 Spondylometaphyseal dysplasia 02-disease-root +Orphanet:2542 Isolated anophthalmia - microphthalmia 01-disease-subtype +Orphanet:2543 Microphthalmia - cataract 01-disease-subtype +Orphanet:254334 Autosomal recessive intermediate Charcot-Marie-Tooth disease type B 01-disease-subtype +Orphanet:254343 Autosomal recessive spastic ataxia - optic atrophy - dysarthria 01-disease-subtype +Orphanet:254351 Distal 7q11.23 microdeletion syndrome 01-disease-subtype +Orphanet:254361 Autosomal recessive limb-girdle muscular dystrophy type 2Q 01-disease-subtype +Orphanet:254516 Motor developmental delay due to 14q32.2 paternally expressed gene defect 01-disease-subtype +Orphanet:254519 Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect 02-disease-root +Orphanet:254525 Paternal 14q32.2 microdeletion syndrome 01-disease-subtype +Orphanet:254528 Maternal 14q32.2 microdeletion syndrome 01-disease-subtype +Orphanet:254531 Paternal 14q32.2 hypomethylation syndrome 01-disease-subtype +Orphanet:254534 Maternal 14q32.2 hypermethylation syndrome 01-disease-subtype +Orphanet:254704 Genetic hyperferritinemia without iron overload 02-disease-root +Orphanet:254746 Pyruvate metabolism disorder 03-disease-area +Orphanet:254749 Tricarboxylic acid cycle disorder 02-disease-root +Orphanet:254758 Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies 02-disease-root +Orphanet:254767 Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA 01-disease-subtype +Orphanet:254776 Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA 01-disease-subtype +Orphanet:254788 Maternally-inherited mitochondrial myopathy 01-disease-subtype +Orphanet:254793 Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA 01-disease-subtype +Orphanet:254803 Mitochondrial DNA depletion syndrome, encephalomyopathic form 01-disease-subtype +Orphanet:254807 Multiple mitochondrial DNA deletion syndrome 02-disease-root +Orphanet:254818 Ataxia neuropathy spectrum 01-disease-subtype +Orphanet:254822 Mitochondrial oxidative phosphorylation disorder with no known mechanism 02-disease-root +Orphanet:254827 Mitochondrial membrane transport disorder 02-disease-root +Orphanet:254830 Mitochondrial substrate carrier disorder 01-disease-subtype +Orphanet:254834 Mitochondrial protein import disorder 01-disease-subtype +Orphanet:254837 Unspecified mitochondrial disorder 02-disease-root +Orphanet:254843 Exercise intolerance with lactic acidosis 01-disease-subtype +Orphanet:254846 Isolated oxidative phosphorylation complex disorder 02-disease-root +Orphanet:254851 Maternally-inherited mitochondrial dystonia 01-disease-subtype +Orphanet:254854 Pure mitochondrial myopathy 01-disease-subtype +Orphanet:254857 Lethal infantile mitochondrial myopathy 01-disease-subtype +Orphanet:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency 01-disease-subtype +Orphanet:254871 Mitochondrial DNA depletion syndrome, hepatocerebral form 01-disease-subtype +Orphanet:254875 Mitochondrial DNA depletion syndrome, myopathic form 01-disease-subtype +Orphanet:254881 Spinocerebellar ataxia with epilepsy 01-disease-subtype +Orphanet:254886 Autosomal recessive progressive external ophthalmoplegia 01-disease-subtype +Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia 01-disease-subtype +Orphanet:254898 Deafness - encephaloneuropathy - obesity - valvulopathy 01-disease-subtype +Orphanet:2549 Oculoauriculovertebral spectrum with radial defects 01-disease-subtype +Orphanet:254902 Renal tubulopathy - encephalopathy - liver failure 01-disease-subtype +Orphanet:254905 Isolated cytochrome C oxidase deficiency 01-disease-subtype +Orphanet:254913 Isolated ATP synthase deficiency 01-disease-subtype +Orphanet:254920 Combined oxidative phosphorylation defect type 2 01-disease-subtype +Orphanet:254925 Combined oxidative phosphorylation defect type 4 01-disease-subtype +Orphanet:254930 Combined oxidative phosphorylation defect type 7 01-disease-subtype +Orphanet:255 Dopa-responsive dystonia 01-disease-subtype +Orphanet:2551 Microspherophakia - metaphyseal dysplasia 01-disease-subtype +Orphanet:255117 Autosomal dominant optic atrophy and late-onset deafness 01-disease-subtype +Orphanet:255132 Adult-onset autosomal recessive sideroblastic anemia 01-disease-subtype +Orphanet:255138 Pyruvate dehydrogenase E1-beta deficiency 01-disease-subtype +Orphanet:255182 Pyruvate dehydrogenase E3-binding protein deficiency 01-disease-subtype +Orphanet:255210 Maternally-inherited Leigh syndrome 01-disease-subtype +Orphanet:255235 Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy 01-disease-subtype +Orphanet:2554 Ear-patella-short stature syndrome 01-disease-subtype +Orphanet:2556 Microphthalmia with linear skin defects syndrome 01-disease-subtype +Orphanet:256 Early-onset generalized limb-onset dystonia 01-disease-subtype +Orphanet:2560 Möbius syndrome - axonal neuropathy - hypogonadotropic hypogonadism 01-disease-subtype +Orphanet:2564 Tetramelic monodactyly 02-disease-root +Orphanet:257 Epidermolysis bullosa simplex with muscular dystrophy 01-disease-subtype +Orphanet:2572 Spastic ataxia - corneal dystrophy 01-disease-subtype +Orphanet:2575 Cystic fibrosis - gastritis - megaloblastic anemia 02-disease-root +Orphanet:2576 MULIBREY nanism 01-disease-subtype +Orphanet:2578 MURCS association 01-disease-subtype +Orphanet:2579 Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus 01-disease-subtype +Orphanet:258 Congenital muscular dystrophy type 1A 01-disease-subtype +Orphanet:2580 Shoulder and girdle defects - familial intellectual disability 02-disease-root +Orphanet:2585 Ataxia - pancytopenia 01-disease-subtype +Orphanet:2587 Myeloperoxidase deficiency 02-disease-root +Orphanet:2589 Myoclonus - cerebellar ataxia - deafness 02-disease-root +Orphanet:2590 Hereditary myoclonus - progressive distal muscular atrophy 01-disease-subtype +Orphanet:2591 Infantile myofibromatosis 02-disease-root +Orphanet:2593 Tubular aggregate myopathy 01-disease-subtype +Orphanet:2596 Myopathy and diabetes mellitus 01-disease-subtype +Orphanet:25968 Benign occipital epilepsy 02-disease-root +Orphanet:2597 Mitochondrial myopathy - lactic acidosis - deafness 01-disease-subtype +Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia 01-disease-subtype +Orphanet:26 Methylmalonic acidemia with homocystinuria 01-disease-subtype +Orphanet:2601 Myopathy - growth delay - intellectual disability - hypospadias 02-disease-root +Orphanet:260305 Autosomal recessive sideroblastic anemia 01-disease-subtype +Orphanet:2604 Familial visceral myopathy 01-disease-subtype +Orphanet:26106 Familial gastric cancer 01-disease-subtype +Orphanet:261102 Distal 7q11.23 microduplication syndrome 01-disease-subtype +Orphanet:261112 Monosomy 9p 01-disease-subtype +Orphanet:261183 15q11.2 microdeletion syndrome 01-disease-subtype +Orphanet:261197 Proximal 16p11.2 microdeletion syndrome 01-disease-subtype +Orphanet:2612 Linear nevus sebaceus syndrome 01-disease-subtype +Orphanet:261222 Distal 16p11.2 microdeletion syndrome 01-disease-subtype +Orphanet:261257 Distal 17p13.3 microdeletion syndrome 01-disease-subtype +Orphanet:261265 17q12 microdeletion syndrome 01-disease-subtype +Orphanet:261272 17q12 microduplication syndrome 01-disease-subtype +Orphanet:261290 Trisomy 17p 01-disease-subtype +Orphanet:2613 Nail-patella-like renal disease 02-disease-root +Orphanet:261304 Paternal 20q13.2q13.3 microdeletion syndrome 01-disease-subtype +Orphanet:261318 Trisomy 20p 01-disease-subtype +Orphanet:261330 Distal 22q11.2 microdeletion syndrome 01-disease-subtype +Orphanet:261337 Distal 22q11.2 microduplication syndrome 01-disease-subtype +Orphanet:261344 Trisomy 1q 01-disease-subtype +Orphanet:2614 Nail-patella syndrome 01-disease-subtype +Orphanet:261476 Monosomy Xp21 01-disease-subtype +Orphanet:261501 Atypical Norrie disease due to monosomy Xp11.3 01-disease-subtype +Orphanet:261519 Maternal uniparental disomy of chromosome X 01-disease-subtype +Orphanet:261524 Paternal uniparental disomy of chromosome X 01-disease-subtype +Orphanet:261529 Ring chromosome Y 01-disease-subtype +Orphanet:261572 Blepharophimosis - epicanthus inversus - ptosis due to a point mutation 01-disease-subtype +Orphanet:261584 Familial adenomatous polyposis due to 5q22.2 microdeletion 01-disease-subtype +Orphanet:2616 3M syndrome 01-disease-subtype +Orphanet:2617 Bird headed-dwarfism, Montreal type 02-disease-root +Orphanet:261766 Partial deletion of chromosome 1 01-disease-subtype +Orphanet:261771 Partial deletion of chromosome 2 01-disease-subtype +Orphanet:261776 Partial deletion of chromosome 3 01-disease-subtype +Orphanet:261781 Partial deletion of chromosome 4 01-disease-subtype +Orphanet:261786 Partial deletion of chromosome 5 01-disease-subtype +Orphanet:261791 Partial deletion of chromosome 6 01-disease-subtype +Orphanet:261796 Partial deletion of chromosome 7 01-disease-subtype +Orphanet:261801 Partial deletion of chromosome 8 01-disease-subtype +Orphanet:261806 Partial deletion of chromosome 9 01-disease-subtype +Orphanet:261811 Partial deletion of chromosome 10 01-disease-subtype +Orphanet:261816 Partial deletion of chromosome 11 01-disease-subtype +Orphanet:261821 Partial deletion of the long arm of chromosome 12 01-disease-subtype +Orphanet:261826 Partial deletion of chromosome 16 01-disease-subtype +Orphanet:261831 Partial deletion of chromosome 17 01-disease-subtype +Orphanet:261836 Partial deletion of chromosome 18 01-disease-subtype +Orphanet:261841 Partial deletion of chromosome 19 01-disease-subtype +Orphanet:261846 Partial deletion of chromosome 20 01-disease-subtype +Orphanet:261857 Partial deletion of the short arm of chromosome 1 01-disease-subtype +Orphanet:261866 Partial deletion of the short arm of chromosome 2 01-disease-subtype +Orphanet:261875 Partial deletion of the short arm of chromosome 3 01-disease-subtype +Orphanet:261884 Partial deletion of the short arm of chromosome 4 01-disease-subtype +Orphanet:261893 Partial deletion of the short arm of chromosome 5 01-disease-subtype +Orphanet:2619 Brachydactylous dwarfism, Mseleni type 02-disease-root +Orphanet:261902 Partial deletion of the short arm of chromosome 6 01-disease-subtype +Orphanet:261911 Partial deletion of the short arm of chromosome 7 01-disease-subtype +Orphanet:261920 Partial deletion of the short arm of chromosome 8 01-disease-subtype +Orphanet:261929 Partial deletion of the short arm of chromosome 9 01-disease-subtype +Orphanet:261938 Partial deletion of the short arm of chromosome 10 01-disease-subtype +Orphanet:261947 Partial deletion of the short arm of chromosome 11 01-disease-subtype +Orphanet:261956 Partial deletion of the short arm of chromosome 16 01-disease-subtype +Orphanet:261965 Partial monosomy of the short arm of chromosome 17 01-disease-subtype +Orphanet:261974 Partial deletion of the short arm of chromosome 18 01-disease-subtype +Orphanet:261983 Partial deletion of the short arm of chromosome 19 01-disease-subtype +Orphanet:261992 Partial monosomy of the short arm of chromosome 20 01-disease-subtype +Orphanet:262001 Partial deletion of the long arm of chromosome 1 01-disease-subtype +Orphanet:262010 Partial deletion of the long arm of chromosome 2 01-disease-subtype +Orphanet:262019 Partial deletion of the long arm of chromosome 3 01-disease-subtype +Orphanet:262029 Partial deletion of the long arm of chromosome 4 01-disease-subtype +Orphanet:262038 Partial deletion of the long arm of chromosome 5 01-disease-subtype +Orphanet:262047 Partial deletion of the long arm of chromosome 6 01-disease-subtype +Orphanet:262056 Partial deletion of the long arm of chromosome 7 01-disease-subtype +Orphanet:262065 Partial deletion of the long arm of chromosome 8 01-disease-subtype +Orphanet:262074 Partial monosomy of the long arm of chromosome 9 01-disease-subtype +Orphanet:262083 Partial monosomy of the long arm of chromosome 10 01-disease-subtype +Orphanet:262092 Partial deletion of the long arm of chromosome 11 01-disease-subtype +Orphanet:2621 Low birth weight - dwarfism - dysgammaglobulinemia 02-disease-root +Orphanet:262101 Partial deletion of the long arm of chromosome 13 01-disease-subtype +Orphanet:262110 Partial deletion of the long arm of chromosome 14 01-disease-subtype +Orphanet:262119 Partial deletion of the long arm of chromosome 15 01-disease-subtype +Orphanet:262128 Partial deletion of the long arm of chromosome 16 01-disease-subtype +Orphanet:262137 Partial deletion of the long arm of chromosome 17 01-disease-subtype +Orphanet:262146 Partial deletion of the long arm of chromosome 18 01-disease-subtype +Orphanet:262155 Partial deletion of the long arm of chromosome 19 01-disease-subtype +Orphanet:262164 Partial deletion of the long arm of chromosome 20 01-disease-subtype +Orphanet:262173 Partial deletion of the long arm of chromosome 21 01-disease-subtype +Orphanet:262182 Partial deletion of the long arm of chromosome 22 01-disease-subtype +Orphanet:262191 Partial duplication of chromosome 1 02-disease-root +Orphanet:262196 Partial duplication of chromosome 2 02-disease-root +Orphanet:262201 Partial duplication of chromosome 3 02-disease-root +Orphanet:262206 Partial duplication of chromosome 4 02-disease-root +Orphanet:262211 Partial trisomy/tetrasomy of chromosome 5 02-disease-root +Orphanet:2623 Geleophysic dysplasia 01-disease-subtype +Orphanet:262628 Partial duplication of chromosome 6 02-disease-root +Orphanet:262633 Partial duplication of chromosome 7 02-disease-root +Orphanet:262638 Partial duplication of chromosome 8 02-disease-root +Orphanet:262643 Partial trisomy/tetrasomy of chromosome 9 02-disease-root +Orphanet:262648 Partial duplication of chromosome 10 02-disease-root +Orphanet:262653 Partial duplication of chromosome 11 02-disease-root +Orphanet:262658 Partial trisomy/tetrasomy of the short arm of chromosome 12 02-disease-root +Orphanet:262672 Partial duplication of chromosome 16 02-disease-root +Orphanet:262677 Partial duplication of chromosome 17 02-disease-root +Orphanet:262682 Partial trisomy/tetrasomy of chromosome 18 02-disease-root +Orphanet:262687 Partial duplication of chromosome 19 02-disease-root +Orphanet:262692 Partial trisomy of chromosome 20 02-disease-root +Orphanet:262698 Partial duplication of the short arm of chromosome 2 01-disease-subtype +Orphanet:262707 Partial duplication of the short arm of chromosome 3 01-disease-subtype +Orphanet:262716 Partial duplication of the short arm of chromosome 4 01-disease-subtype +Orphanet:262725 Partial trisomy/tetrasomy of the short arm of chromosome 5 01-disease-subtype +Orphanet:262740 Partial duplication of the short arm of chromosome 6 01-disease-subtype +Orphanet:262749 Partial duplication of the short arm of chromosome 7 01-disease-subtype +Orphanet:262758 Partial duplication of the short arm of chromosome 8 01-disease-subtype +Orphanet:262767 Partial trisomy of the short arm of chromosome 9 01-disease-subtype +Orphanet:262776 Partial duplication of the short arm of chromosome 10 01-disease-subtype +Orphanet:262785 Partial duplication of the short arm of chromosome 11 01-disease-subtype +Orphanet:262794 Partial duplication of the short arm of chromosome 16 01-disease-subtype +Orphanet:262803 Partial duplication of the short arm of chromosome 17 01-disease-subtype +Orphanet:262812 Partial trisomy/tetrasomy of the short arm of chromosome 18 01-disease-subtype +Orphanet:262833 Partial duplication of the long arm of chromosome 1 01-disease-subtype +Orphanet:262842 Partial duplication of the long arm of chromosome 2 01-disease-subtype +Orphanet:262851 Partial duplication of the long arm of chromosome 3 01-disease-subtype +Orphanet:262860 Partial duplication of the long arm of chromosome 4 01-disease-subtype +Orphanet:262869 Partial trisomy of the long arm of chromosome 5 01-disease-subtype +Orphanet:262878 Partial duplication of the long arm of chromosome 6 01-disease-subtype +Orphanet:262887 Partial duplication of the long arm of chromosome 7 01-disease-subtype +Orphanet:262896 Partial duplication of the long arm of chromosome 8 01-disease-subtype +Orphanet:262905 Partial trisomy of the long arm of chromosome 9 01-disease-subtype +Orphanet:262914 Partial duplication of the long arm of chromosome 10 01-disease-subtype +Orphanet:262923 Partial duplication of the long arm of chromosome 11 01-disease-subtype +Orphanet:262932 Partial duplication of the long arm of chromosome 13 02-disease-root +Orphanet:262941 Partial duplication of the long arm of chromosome 14 02-disease-root +Orphanet:262950 Partial duplication of the long arm of chromosome 15 02-disease-root +Orphanet:262959 Partial trisomy of the long arm of chromosome 16 01-disease-subtype +Orphanet:262968 Partial duplication of the long arm of chromosome 17 01-disease-subtype +Orphanet:262977 Partial trisomy of the long arm of chromosome 18 01-disease-subtype +Orphanet:262986 Partial duplication of the long arm of chromosome 19 01-disease-subtype +Orphanet:262995 Partial trisomy of the long arm of chromosome 20 01-disease-subtype +Orphanet:263 Limb-girdle muscular dystrophy 02-disease-root +Orphanet:263004 Partial duplication of the long arm of chromosome 22 02-disease-root +Orphanet:2631 Mesomelic dwarfism - cleft palate - camptodactyly 01-disease-subtype +Orphanet:263297 Glycogen storage disease due to glycogenin deficiency 02-disease-root +Orphanet:2633 Mesomelic dwarfism, Nievergelt type 01-disease-subtype +Orphanet:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type 01-disease-subtype +Orphanet:263410 Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease 01-disease-subtype +Orphanet:263440 Neuroacanthocytosis 02-disease-root +Orphanet:263455 Hyperinsulinism due to HNF4A deficiency 01-disease-subtype +Orphanet:263458 Hyperinsulinism due to INSR deficiency 02-disease-root +Orphanet:263463 CHST3-related skeletal dysplasia 01-disease-subtype +Orphanet:263482 Spondyloepiphyseal dysplasia, Maroteaux type 02-disease-root +Orphanet:2635 Metatropic dysplasia 02-disease-root +Orphanet:263516 Progressive myoclonic epilepsy type 3 01-disease-subtype +Orphanet:263534 Acral peeling skin syndrome 01-disease-subtype +Orphanet:263543 Generalized peeling skin syndrome 01-disease-subtype +Orphanet:263548 Peeling skin syndrome type A 01-disease-subtype +Orphanet:263558 Generalized peeling skin syndrome type C 01-disease-subtype +Orphanet:2636 Microcephalic osteodysplastic primordial dwarfism types I and III 01-disease-subtype +Orphanet:263676 Hereditary epidermolysis bullosa associated with ocular features 02-disease-root +Orphanet:2637 Microcephalic osteodysplastic primordial dwarfism type II 01-disease-subtype +Orphanet:263708 Complex chromosomal rearrangement 02-disease-root +Orphanet:263717 X chromosome number anomaly with female phenotype 03-disease-area +Orphanet:263720 X chromosome number anomaly with male phenotype 02-disease-root +Orphanet:263723 Polysomy of X chromosome 02-disease-root +Orphanet:263726 Partial deletion of chromosome X 01-disease-subtype +Orphanet:263731 Partial monosomy of the short arm of chromosome X 01-disease-subtype +Orphanet:263756 Partial deletion of the long arm of chromosome X 01-disease-subtype +Orphanet:263768 Partial duplication of chromosome X 01-disease-subtype +Orphanet:263775 Partial duplication of the short arm of chromosome X 01-disease-subtype +Orphanet:263783 Partial duplication of the long arm of chromosome X 01-disease-subtype +Orphanet:263793 Uniparental disomy of chromosome X 01-disease-subtype +Orphanet:264 Autosomal dominant limb-girdle muscular dystrophy type 1B 01-disease-subtype +Orphanet:2641 Micromelic dwarfism, Fryns type 01-disease-subtype +Orphanet:264200 14q22q23 microdeletion syndrome 01-disease-subtype +Orphanet:2643 Microcephalic primordial dwarfism, Toriello type 01-disease-subtype +Orphanet:264431 Partial duplication of the short arm of chromosome 1 01-disease-subtype +Orphanet:264450 Trisomy 8p 01-disease-subtype +Orphanet:2645 Osteoglophonic dwarfism 01-disease-subtype +Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency 01-disease-subtype +Orphanet:2646 Parastremmatic dwarfism 01-disease-subtype +Orphanet:264675 Congenital pulmonary alveolar proteinosis 01-disease-subtype +Orphanet:2649 Short stature - intellectual disability - eye anomalies - cleft lip/palate 02-disease-root +Orphanet:264992 Genetic interstitial lung disease 02-disease-root +Orphanet:265 Autosomal dominant limb-girdle muscular dystrophy type 1C 01-disease-subtype +Orphanet:2650 Dwarfism - intellectual disability - eye abnormality 02-disease-root +Orphanet:2653 Osteochondrodysplatic nanism - deafness - retinitis pigmentosa 01-disease-subtype +Orphanet:2655 Thanatophoric dysplasia 01-disease-subtype +Orphanet:2666 Adult familial nephronophthisis - spastic quadriparesia 02-disease-root +Orphanet:2668 Nephropathy-deafness-hyperparathyroidism syndrome 02-disease-root +Orphanet:2669 Nephrosis - deafness - urinary tract - digital malformations 02-disease-root +Orphanet:267 Autosomal recessive limb-girdle muscular dystrophy type 2A 01-disease-subtype +Orphanet:2673 Neurofaciodigitorenal syndrome 02-disease-root +Orphanet:2676 Neuroectodermal-endocrine syndrome 02-disease-root +Orphanet:2678 Neurofibromatosis type 6 01-disease-subtype +Orphanet:2679 Infantile axonal neuropathy 02-disease-root +Orphanet:26791 Multiple acyl-CoA dehydrogenase deficiency 01-disease-subtype +Orphanet:26792 Short chain acyl-CoA dehydrogenase deficiency 01-disease-subtype +Orphanet:26793 Very long chain acyl-CoA dehydrogenase deficiency 01-disease-subtype +Orphanet:268 Autosomal recessive limb-girdle muscular dystrophy type 2B 01-disease-subtype +Orphanet:2680 Hypomyelination neuropathy - arthrogryposis 01-disease-subtype +Orphanet:268114 RAS-associated autoimmune leukoproliferative disease 02-disease-root +Orphanet:268129 Spheroid body myopathy 01-disease-subtype +Orphanet:268145 Classic maple syrup urine disease 01-disease-subtype +Orphanet:268162 Intermediate maple syrup urine disease 01-disease-subtype +Orphanet:268173 Intermittent maple syrup urine disease 01-disease-subtype +Orphanet:268184 Thiamine-responsive maple syrup urine disease 01-disease-subtype +Orphanet:268261 21q22.13q22.2 microdeletion syndrome 01-disease-subtype +Orphanet:268322 Hereditary thrombocytopenia with normal platelets 01-disease-subtype +Orphanet:268337 Autosomal recessive intermediate Charcot-Marie-Tooth disease 01-disease-subtype +Orphanet:268357 Neural tube closure defect 03-disease-area +Orphanet:268363 Open iniencephaly 01-disease-subtype +Orphanet:268366 Closed iniencephaly 01-disease-subtype +Orphanet:268369 Spina bifida aperta 01-disease-subtype +Orphanet:268377 Total spina bifida aperta 01-disease-subtype +Orphanet:268384 Thoracolumbosacral spina bifida aperta 01-disease-subtype +Orphanet:268388 Lumbosacral spina bifida aperta 01-disease-subtype +Orphanet:268392 Cervical spina bifida aperta 01-disease-subtype +Orphanet:268397 Cervicothoracic spina bifida aperta 01-disease-subtype +Orphanet:2686 Cyclic neutropenia 01-disease-subtype +Orphanet:268740 Upper thoracic spina bifida aperta 01-disease-subtype +Orphanet:268744 Spina bifida cystica 01-disease-subtype +Orphanet:268748 Total spina bifida cystica 01-disease-subtype +Orphanet:268752 Thoracolumbosacral spina bifida cystica 01-disease-subtype +Orphanet:268758 Lumbosacral spina bifida cystica 01-disease-subtype +Orphanet:268762 Cervical spina bifida cystica 01-disease-subtype +Orphanet:268766 Cervicothoracic spina bifida cystica 01-disease-subtype +Orphanet:268770 Upper thoracic spina bifida cystica 01-disease-subtype +Orphanet:268810 Posterior meningocele 01-disease-subtype +Orphanet:268813 Myelocystocele 01-disease-subtype +Orphanet:268817 Cephalocele 02-disease-root +Orphanet:268820 Cranial meningocele 01-disease-subtype +Orphanet:268823 Occipital encephalocele 01-disease-subtype +Orphanet:268826 Parietal encephalocele 01-disease-subtype +Orphanet:268829 Basal encephalocele 01-disease-subtype +Orphanet:268832 Lipoma associated with neurospinal dysraphism 02-disease-root +Orphanet:268835 Lipomyelomeningocele 01-disease-subtype +Orphanet:268838 Leptomyelolipoma 01-disease-subtype +Orphanet:268843 Malformation of the neurenteric canal, spinal cord and column 03-disease-area +Orphanet:268861 Primary tethered chord syndrome 02-disease-root +Orphanet:268865 Neurenteric cyst 02-disease-root +Orphanet:268868 Isolated amyelia 02-disease-root +Orphanet:268882 Arnold-Chiari malformation type I 02-disease-root +Orphanet:268926 Midline cerebral malformation 02-disease-root +Orphanet:268940 Bilateral polymicrogyria 01-disease-subtype +Orphanet:268943 Unilateral polymicrogyria 01-disease-subtype +Orphanet:268947 Unilateral focal polymicrogyria 01-disease-subtype +Orphanet:268950 Cerebral cortical dysplasia 02-disease-root +Orphanet:268961 Isolated focal cortical dysplasia type I 01-disease-subtype +Orphanet:268973 Isolated focal cortical dysplasia type Ia 01-disease-subtype +Orphanet:268980 Isolated focal cortical dysplasia type Ib 01-disease-subtype +Orphanet:268987 Isolated focal cortical dysplasia type Ic 01-disease-subtype +Orphanet:268994 Isolated focal cortical dysplasia type II 01-disease-subtype +Orphanet:269 Facioscapulohumeral dystrophy 02-disease-root +Orphanet:2690 Neutropenia - monocytopenia - deafness 01-disease-subtype +Orphanet:269001 Isolated focal cortical dysplasia type IIa 01-disease-subtype +Orphanet:269008 Isolated focal cortical dysplasia type IIb 01-disease-subtype +Orphanet:269190 Encephaloclastic disorder 02-disease-root +Orphanet:269212 Isolated Dandy-Walker malformation with hydrocephalus 01-disease-subtype +Orphanet:269215 Isolated Dandy-Walker malformation without hydrocephalus 01-disease-subtype +Orphanet:269505 Congenital communicating hydrocephalus 01-disease-subtype +Orphanet:269510 Congenital non-communicating hydrocephalus 01-disease-subtype +Orphanet:269528 Syndrome with microcephaly as major feature 02-disease-root +Orphanet:269550 Genetic non-syndromic central nervous system malformation 03-disease-area +Orphanet:269553 Genetic cerebral malformation 03-disease-area +Orphanet:269557 Genetic posterior fossa malformation 02-disease-root +Orphanet:269560 Genetic cerebellar malformation 01-disease-subtype +Orphanet:269564 Genetic syndrome with a central nervous system malformation as major feature 03-disease-area +Orphanet:269567 Genetic syndrome with a cerebellar malformation as major feature 02-disease-root +Orphanet:269570 Genetic syndrome with a Dandy-Walker malformation as major feature 01-disease-subtype +Orphanet:269573 Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature 02-disease-root +Orphanet:2697 Arthrogryposis - renal dysfunction - cholestasis 01-disease-subtype +Orphanet:2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome 01-disease-subtype +Orphanet:2699 Median nodule of the upper lip 02-disease-root +Orphanet:270 Oculopharyngeal muscular dystrophy 02-disease-root +Orphanet:2707 Oculocerebrofacial syndrome, Kaufman type 02-disease-root +Orphanet:2709 Oculodental syndrome, Rutherfurd type 01-disease-subtype +Orphanet:2710 Oculodentodigital dysplasia 01-disease-subtype +Orphanet:2713 Oculoosteocutaneous syndrome 02-disease-root +Orphanet:2714 Oculo-palato-cerebral syndrome 02-disease-root +Orphanet:2716 Oculo-skeletal-renal syndrome 02-disease-root +Orphanet:2717 Oculotrichoanal syndrome 02-disease-root +Orphanet:2718 Oculotrichodysplasia 01-disease-subtype +Orphanet:271832 Genetic soft tissue tumor 02-disease-root +Orphanet:271835 Genetic digestive tract tumor 03-disease-area +Orphanet:271841 Genetic cardiac tumor 01-disease-subtype +Orphanet:271844 Genetic urogenital tumor 02-disease-root +Orphanet:271847 Genetic endocrine tumor 03-disease-area +Orphanet:271853 Genetic cardiac anomaly 02-disease-root +Orphanet:271861 Familial transthyretin-related amyloidosis 02-disease-root +Orphanet:271870 Rare genetic systemic or rheumatologic disease 03-disease-area +Orphanet:2719 Oculocerebral hypopigmentation syndrome, Cross type 02-disease-root +Orphanet:272 Congenital muscular dystrophy, Fukuyama type 01-disease-subtype +Orphanet:2721 Odonto-onycho-dermal dysplasia 01-disease-subtype +Orphanet:2722 Odonto-onycho dysplasia - alopecia 02-disease-root +Orphanet:2723 Odontotrichomelic syndrome 02-disease-root +Orphanet:2724 Odontomatosis - aortae esophagus stenosis 02-disease-root +Orphanet:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type 01-disease-subtype +Orphanet:273 Steinert myotonic dystrophy 01-disease-subtype +Orphanet:2730 Postaxial tetramelic oligodactyly 02-disease-root +Orphanet:2731 Taurodontia - absent teeth - sparse hair 02-disease-root +Orphanet:2732 Olivopontocerebellar atrophy - deafness 02-disease-root +Orphanet:2733 Omodysplasia 01-disease-subtype +Orphanet:2736 Lethal omphalocele-cleft palate syndrome 02-disease-root +Orphanet:2741 Ophthalmomandibulomelic dysplasia 01-disease-subtype +Orphanet:2743 Ophthalmoplegia - intellectual disability - lingua scrotalis 02-disease-root +Orphanet:2744 Horizontal gaze palsy with progressive scoliosis 01-disease-subtype +Orphanet:2746 Opsismodysplasia 01-disease-subtype +Orphanet:2749 Oromandibular-limb hypogenesis syndrome 01-disease-subtype +Orphanet:275 Severe combined immunodeficiency due to DCLRE1C deficiency 01-disease-subtype +Orphanet:2750 Orofaciodigital syndrome type 1 01-disease-subtype +Orphanet:2751 Orofaciodigital syndrome type 2 01-disease-subtype +Orphanet:2752 Orofaciodigital syndrome type 3 01-disease-subtype +Orphanet:2753 Orofaciodigital syndrome type 4 01-disease-subtype +Orphanet:2754 Joubert syndrome with orofaciodigital defect 01-disease-subtype +Orphanet:2755 Orofaciodigital syndrome type 8 01-disease-subtype +Orphanet:275517 Autoimmune lymphoproliferative syndrome with recurrent viral infections 02-disease-root +Orphanet:275534 Myostatin-related muscle hypertrophy 02-disease-root +Orphanet:2756 Orofaciodigital syndrome type 10 01-disease-subtype +Orphanet:275729 Rare hemorrhagic disorder due to a constitutional thrombocytopenia 01-disease-subtype +Orphanet:275736 Rare hemorrhagic disorder due to a platelet receptor defect 01-disease-subtype +Orphanet:275742 Genetic infertility 03-disease-area +Orphanet:275745 Alpha-thalassemia and related diseases 02-disease-root +Orphanet:275749 Beta-thalassemia and related diseases 02-disease-root +Orphanet:275752 Sickle cell disease and related diseases 02-disease-root +Orphanet:275761 Lysosomal acid lipase deficiency 01-disease-subtype +Orphanet:275766 Idiopathic pulmonary arterial hypertension 01-disease-subtype +Orphanet:275777 Heritable pulmonary arterial hypertension 01-disease-subtype +Orphanet:275864 Behavioral variant of frontotemporal dementia 01-disease-subtype +Orphanet:275872 Frontotemporal dementia with motor neuron disease 02-disease-root +Orphanet:2759 Imperforate oropharynx - costo vetebral anomalies 01-disease-subtype +Orphanet:276058 Genetic neurodegenerative disease with dementia 03-disease-area +Orphanet:276061 Genetic frontotemporal degeneration with dementia 03-disease-area +Orphanet:276066 Bile acid CoA ligase deficiency and defective amidation 01-disease-subtype +Orphanet:276152 Multiple endocrine neoplasia type 4 01-disease-subtype +Orphanet:276161 Multiple endocrine neoplasia 02-disease-root +Orphanet:276183 Spinocerebellar ataxia type 32 01-disease-subtype +Orphanet:276193 Spinocerebellar ataxia type 35 01-disease-subtype +Orphanet:276198 Spinocerebellar ataxia type 36 01-disease-subtype +Orphanet:2762 Progressive osseous heteroplasia 01-disease-subtype +Orphanet:276212 Mucopolysaccharidosis type 6, rapidly progressing 01-disease-subtype +Orphanet:276223 Mucopolysaccharidosis type 6, slowly progressing 01-disease-subtype +Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder 01-disease-subtype +Orphanet:276249 Xeroderma pigmentosum complementation group A 01-disease-subtype +Orphanet:276252 Xeroderma pigmentosum complementation group B 01-disease-subtype +Orphanet:276255 Xeroderma pigmentosum complementation group C 01-disease-subtype +Orphanet:276258 Xeroderma pigmentosum complementation group D 01-disease-subtype +Orphanet:276261 Xeroderma pigmentosum complementation group E 01-disease-subtype +Orphanet:276264 Xeroderma pigmentosum complementation group F 01-disease-subtype +Orphanet:276267 Xeroderma pigmentosum complementation group G 01-disease-subtype +Orphanet:2763 Osteocraniostenosis 01-disease-subtype +Orphanet:276399 Familial multinodular goiter 02-disease-root +Orphanet:276405 Hyperbiliverdinemia 02-disease-root +Orphanet:276432 Premature aging appearance-developmental delay-cardiac arrhythmia syndrome 02-disease-root +Orphanet:276435 Lower motor neuron syndrome with late-adult onset 01-disease-subtype +Orphanet:276525 Familial hyperinsulinism 03-disease-area +Orphanet:276556 Hyperinsulinism due to UCP2 deficiency 01-disease-subtype +Orphanet:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency 01-disease-subtype +Orphanet:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency 01-disease-subtype +Orphanet:276585 Diazoxide-resistant hyperinsulinism 02-disease-root +Orphanet:276598 Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency 01-disease-subtype +Orphanet:276603 Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency 01-disease-subtype +Orphanet:276608 Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia 02-disease-root +Orphanet:276630 Symptomatic form of Coffin-Lowry syndrome in female carriers 02-disease-root +Orphanet:2767 Carpotarsal osteochondromatosis 01-disease-subtype +Orphanet:2769 Familial osteodysplasia, Anderson type 01-disease-subtype +Orphanet:277 Severe combined immunodeficiency due to adenosine deaminase deficiency 01-disease-subtype +Orphanet:2770 Nasu-Hakola disease 01-disease-subtype +Orphanet:2772 Congenital osteogenesis imperfecta - microcephaly - cataracts 01-disease-subtype +Orphanet:2773 Osteogenesis imperfecta - retinopathy - seizures - intellectual disability 01-disease-subtype +Orphanet:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy 01-disease-subtype +Orphanet:2776 Autosomal recessive distal osteolysis syndrome 01-disease-subtype +Orphanet:2777 Osteomesopyknosis 01-disease-subtype +Orphanet:2779 Osteopathia striata - pigmentary dermopathy - white forelock 01-disease-subtype +Orphanet:278 Corticobasal degeneration 02-disease-root +Orphanet:2780 Osteopathia striata - cranial sclerosis 01-disease-subtype +Orphanet:2781 Osteopetrosis 01-disease-subtype +Orphanet:2783 Autosomal dominant osteopetrosis type 1 01-disease-subtype +Orphanet:2785 Osteopetrosis with renal tubular acidosis 01-disease-subtype +Orphanet:2786 Osteoporosis - oculocutaneous hypopigmentation syndrome 01-disease-subtype +Orphanet:2787 Osteoporosis - macrocephaly - blindness - joint hyperlaxity 01-disease-subtype +Orphanet:2788 Osteoporosis - pseudoglioma 01-disease-subtype +Orphanet:2789 Lateral meningocele syndrome 01-disease-subtype +Orphanet:2790 Autosomal dominant osteosclerosis, Worth type 01-disease-subtype +Orphanet:2791 Otodental syndrome 01-disease-subtype +Orphanet:2792 Otofaciocervical syndrome 02-disease-root +Orphanet:2796 Pachydermoperiostosis 01-disease-subtype +Orphanet:2798 Pachygyria - intellectual disability - epilepsy 02-disease-root +Orphanet:279934 Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency 01-disease-subtype +Orphanet:279943 Hereditary neutrophilia 02-disease-root +Orphanet:28 Vitamin B12-responsive methylmalonic acidemia 01-disease-subtype +Orphanet:2801 Juvenile Paget disease 01-disease-subtype +Orphanet:280133 Complement component 3 deficiency 01-disease-subtype +Orphanet:280142 Severe combined immunodeficiency due to LCK deficiency 01-disease-subtype +Orphanet:280183 Methylmalonic aciduria due to transcobalamin receptor defect 01-disease-subtype +Orphanet:280195 Septopreoptic holoprosencephaly 01-disease-subtype +Orphanet:280200 Microform holoprosencephaly 01-disease-subtype +Orphanet:280234 Null syndrome 01-disease-subtype +Orphanet:280282 Pelizaeus-Merzbacher-like disease due to GJC2 mutation 02-disease-root +Orphanet:280288 Pelizaeus-Merzbacher-like disease due to HSPD1 mutation 02-disease-root +Orphanet:280293 Pelizaeus-Merzbacher-like disease due to AIMP1 mutation 02-disease-root +Orphanet:280325 Distal monosomy 12p 01-disease-subtype +Orphanet:280333 Autosomal recessive limb-girdle muscular dystrophy type 2P 01-disease-subtype +Orphanet:280365 Autosomal codominant severe lipodystrophic laminopathy 01-disease-subtype +Orphanet:280379 Erythropoietic uroporphyria associated with myeloid malignancy 01-disease-subtype +Orphanet:280384 Recessive intellectual disability - motor dysfunction - multiple joint contractures 02-disease-root +Orphanet:2804 W syndrome 01-disease-subtype +Orphanet:280403 Familial omphalocele syndrome with facial dysmorphism 02-disease-root +Orphanet:280406 Familial steroid-resistant nephrotic syndrome with sensorineural deafness 02-disease-root +Orphanet:2805 Partial pancreatic agenesis 01-disease-subtype +Orphanet:280553 Fatal infantile hypertonic myofibrillar myopathy 01-disease-subtype +Orphanet:280569 Rapidly progressive glomerulonephritis 02-disease-root +Orphanet:280586 Chondrodysplasia with joint dislocations, gPAPP type 01-disease-subtype +Orphanet:280598 Hereditary sensorimotor neuropathy with hyperelastic skin 02-disease-root +Orphanet:280615 Hemoglobinopathy Toms River 02-disease-root +Orphanet:280620 Progressive myoclonic epilepsy type 6 02-disease-root +Orphanet:280628 Familial progressive hyper- and hypopigmentation 02-disease-root +Orphanet:280633 Multiple congenital anomalies - hypotonia - seizures syndrome 01-disease-subtype +Orphanet:280640 Occipital pachygyria and polymicrogyria 02-disease-root +Orphanet:280651 Acrodysostosis with multiple hormone resistance 01-disease-subtype +Orphanet:280663 Hermansky-Pudlak syndrome type 9 01-disease-subtype +Orphanet:280671 Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect 01-disease-subtype +Orphanet:280679 Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism 02-disease-root +Orphanet:280763 Severe intellectual disability and progressive spastic paraplegia 01-disease-subtype +Orphanet:2809 Familial recurrent peripheral facial palsy 02-disease-root +Orphanet:281 Monosomy 5p 01-disease-subtype +Orphanet:281082 Inherited non-syndromic ichthyosis 02-disease-root +Orphanet:281085 Inherited ichthyosis syndromic form 02-disease-root +Orphanet:281097 Autosomal recessive congenital ichthyosis 01-disease-subtype +Orphanet:281103 Keratinopathic ichthyosis 03-disease-area +Orphanet:281122 Self-healing collodion baby 01-disease-subtype +Orphanet:281127 Acral self-healing collodion baby 01-disease-subtype +Orphanet:281139 Annular epidermolytic ichthyosis 02-disease-root +Orphanet:281190 Congenital reticular ichthyosiform erythroderma 01-disease-subtype +Orphanet:281201 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome 01-disease-subtype +Orphanet:281217 Autosomal ichthyosis syndrome 03-disease-area +Orphanet:281222 Autosomal ichthyosis syndrome with prominent hair abnormalities 02-disease-root +Orphanet:281238 Autosomal ichthyosis syndrome with prominent neurologics signs 02-disease-root +Orphanet:281241 Autosomal ichthyosis syndrome with fatal disease course 02-disease-root +Orphanet:281244 Autosomal ichthyosis syndrome with other associated signs 02-disease-root +Orphanet:2815 Spastic paraparesis - deafness 02-disease-root +Orphanet:2816 Spastic paraplegia - epilepsy - intellectual disability 01-disease-subtype +Orphanet:2818 Spastic paraplegia - glaucoma - intellectual disability 01-disease-subtype +Orphanet:2819 Spastic paraplegia - facial-cutaneous lesions 01-disease-subtype +Orphanet:282 Frontotemporal dementia 02-disease-root +Orphanet:2820 Spastic paraplegia - nephritis - deafness 01-disease-subtype +Orphanet:2821 Spastic paraplegia - neuropathy - poikiloderma 01-disease-subtype +Orphanet:282124 Partial deletion of chromosome 12 01-disease-subtype +Orphanet:282166 Inherited Creutzfeldt-Jakob disease 02-disease-root +Orphanet:2822 Autosomal recessive spastic paraplegia type 11 01-disease-subtype +Orphanet:2823 Paraplegia - brachydactyly - cone-shaped epiphysis 02-disease-root +Orphanet:2824 Paraplegia - intellectual disability - hyperkeratosis 02-disease-root +Orphanet:2826 Spastic paraplegia - precocious puberty 01-disease-subtype +Orphanet:2828 Young adult-onset Parkinsonism 01-disease-subtype +Orphanet:2831 Rhizomelic dysplasia, Patterson-Lowry type 01-disease-subtype +Orphanet:2832 Short tarsus - absence of lower eyelashes 02-disease-root +Orphanet:2833 Stiff skin syndrome 02-disease-root +Orphanet:2834 Wrinkly skin syndrome 01-disease-subtype +Orphanet:28378 Tyrosinemia type 2 01-disease-subtype +Orphanet:2839 Pelvis-shoulder dysplasia 02-disease-root +Orphanet:2840 Pelvic dysplasia - arthrogryposis of lower limbs 01-disease-subtype +Orphanet:2841 Familial benign chronic pemphigus 02-disease-root +Orphanet:284149 Craniosynostosis and dental anomalies 02-disease-root +Orphanet:284160 8q21.11 microdeletion syndrome 01-disease-subtype +Orphanet:284169 10p11.21p12.31 microdeletion syndrome 01-disease-subtype +Orphanet:284232 Autosomal dominant Charcot-Marie-Tooth disease type 2O 01-disease-subtype +Orphanet:284247 Familial retinal arterial macroaneurysm 01-disease-subtype +Orphanet:284271 Autosomal recessive cerebellar ataxia - psychomotor retardation 01-disease-subtype +Orphanet:284289 Adult-onset autosomal recessive cerebellar ataxia 01-disease-subtype +Orphanet:2843 Pentosuria 01-disease-subtype +Orphanet:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia 01-disease-subtype +Orphanet:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia 01-disease-subtype +Orphanet:284339 Pontocerebellar hypoplasia type 7 01-disease-subtype +Orphanet:284385 Familial intrahepatic cholestasis 03-disease-area +Orphanet:284408 Glycerol kinase deficiency, infantile form 01-disease-subtype +Orphanet:284411 Glycerol kinase deficiency, juvenile form 01-disease-subtype +Orphanet:284414 Glycerol kinase deficiency, adult form 01-disease-subtype +Orphanet:284417 Phosphoserine aminotransferase deficiency 01-disease-subtype +Orphanet:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 01-disease-subtype +Orphanet:284435 Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency 01-disease-subtype +Orphanet:28455 Pancreatic beta cell agenesis with neonatal diabetes mellitus 02-disease-root +Orphanet:2847 Pericardial and diaphragmatic defect 02-disease-root +Orphanet:284786 Qualitative or quantitative defects of troponin 02-disease-root +Orphanet:284790 Qualitative or quantitative defects of tropomyosin 02-disease-root +Orphanet:284804 Ocular albinism 01-disease-subtype +Orphanet:284811 Syndromic oculocutaneous albinism 03-disease-area +Orphanet:284814 Disorder of phenylalanine metabolism 01-disease-subtype +Orphanet:284818 Disorder of tyrosine metabolism 01-disease-subtype +Orphanet:284973 Marfan syndrome type 2 01-disease-subtype +Orphanet:284979 Neonatal Marfan syndrome 01-disease-subtype +Orphanet:284984 Aneurysm - osteoarthritis syndrome 01-disease-subtype +Orphanet:2850 Alopecia-intellectual disability syndrome 02-disease-root +Orphanet:285014 Rare disease with thoracic aortic aneurysm and aortic dissection 02-disease-root +Orphanet:2856 Persistent Müllerian duct syndrome 01-disease-subtype +Orphanet:285657 Disorder of folate metabolism and transport 01-disease-subtype +Orphanet:2863 Short stature - wormian bones - dextrocardia 02-disease-root +Orphanet:2865 Short stature - webbed neck - heart disease 02-disease-root +Orphanet:2866 Short stature - deafness - neutrophil dysfunction - dysmorphism 02-disease-root +Orphanet:2867 Short stature, Brussels type 01-disease-subtype +Orphanet:2868 Short stature - valvular heart disease - characteristic facies 02-disease-root +Orphanet:2872 Cardiocranial syndrome, Pfeiffer type 02-disease-root +Orphanet:2874 Phakomatosis pigmentokeratotica 01-disease-subtype +Orphanet:2875 Phakomatosis pigmentovascularis 01-disease-subtype +Orphanet:2878 Phocomelia - ectrodactyly - deafness - sinus arrhythmia 02-disease-root +Orphanet:2879 Phocomelia, Schinzel type 02-disease-root +Orphanet:288 Hereditary elliptocytosis 01-disease-subtype +Orphanet:2880 Phosphoenolpyruvate carboxykinase deficiency 01-disease-subtype +Orphanet:2882 Sitosterolemia 01-disease-subtype +Orphanet:2884 Piebaldism 01-disease-subtype +Orphanet:2885 Piebald trait - neurologic defects 01-disease-subtype +Orphanet:2888 Pierre Robin syndrome - faciodigital anomaly 02-disease-root +Orphanet:2889 Pili torti 01-disease-subtype +Orphanet:289 Ellis Van Creveld syndrome 01-disease-subtype +Orphanet:2890 Pili torti - onychodysplasia 02-disease-root +Orphanet:289098 Disorders of vitamin D metabolism 01-disease-subtype +Orphanet:2891 Pili torti - developmental delay - neurological abnormalities 01-disease-subtype +Orphanet:289103 Hypocalcemic rickets 01-disease-subtype +Orphanet:289157 Hypocalcemic vitamin D-dependent rickets 01-disease-subtype +Orphanet:289176 Autosomal recessive hypophosphatemic rickets 01-disease-subtype +Orphanet:2892 Pilodental dysplasia - refractive errors 02-disease-root +Orphanet:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation 02-disease-root +Orphanet:289307 Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency 01-disease-subtype +Orphanet:289365 Familial vesicoureteral reflux 02-disease-root +Orphanet:289377 Early-onset myopathy with fatal cardiomyopathy 01-disease-subtype +Orphanet:289380 Myosclerosis 01-disease-subtype +Orphanet:289465 Isolated adermatoglyphia 02-disease-root +Orphanet:289483 Intellectual disability - alacrima - achalasia 01-disease-subtype +Orphanet:289494 Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism 02-disease-root +Orphanet:289499 Congenital cataract microcornea with corneal opacity 02-disease-root +Orphanet:289504 Combined malonic and methylmalonic acidemia 01-disease-subtype +Orphanet:289522 Microtriplication 11q24.1 01-disease-subtype +Orphanet:289527 Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency 01-disease-subtype +Orphanet:289553 Dysmorphism - conductive hearing loss - heart defect 02-disease-root +Orphanet:289573 Fatal multiple mitochondrial dysfunction syndrome 01-disease-subtype +Orphanet:289586 Exfoliative ichthyosis 01-disease-subtype +Orphanet:289601 Hereditary arterial and articular multiple calcification syndrome 02-disease-root +Orphanet:2897 Pityriasis rubra pilaris 02-disease-root +Orphanet:2898 X-linked intellectual disability - plagiocephaly 02-disease-root +Orphanet:289825 Late-onset primary lymphedema 01-disease-subtype +Orphanet:289829 Disorder of tryptophan metabolism 02-disease-root +Orphanet:289832 Disorder of lysine and hydroxylysine metabolism 02-disease-root +Orphanet:289841 Disorder of glutamine metabolism 02-disease-root +Orphanet:289846 Glutathione synthetase deficiency with 5-oxoprolinuria 01-disease-subtype +Orphanet:289849 Glutathione synthetase deficiency without 5-oxoprolinuria 01-disease-subtype +Orphanet:289857 Neonatal glycine encephalopathy 01-disease-subtype +Orphanet:289860 Infantile glycine encephalopathy 01-disease-subtype +Orphanet:289863 Atypical glycine encephalopathy 01-disease-subtype +Orphanet:289866 Disorder of proline metabolism 01-disease-subtype +Orphanet:289869 Disorder of ornithine metabolism 01-disease-subtype +Orphanet:289899 Organic aciduria 03-disease-area +Orphanet:2899 Brachyolmia-amelogenesis imperfecta syndrome 01-disease-subtype +Orphanet:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 01-disease-subtype +Orphanet:29 Mevalonic aciduria 01-disease-subtype +Orphanet:2903 Familial spontaneous pneumothorax 02-disease-root +Orphanet:2907 Hereditary acrokeratotic poikiloderma, Weary type 02-disease-root +Orphanet:29072 Hereditary pheochromocytoma-paraganglioma 01-disease-subtype +Orphanet:290839 Autoinflammatory syndrome with immune deficiency 03-disease-area +Orphanet:2913 Polydactyly 03-disease-area +Orphanet:2916 Postaxial polydactyly - dental and vertebral anomalies 02-disease-root +Orphanet:2917 Polydactyly-myopia syndrome 02-disease-root +Orphanet:2919 Orofaciodigital syndrome type 5 01-disease-subtype +Orphanet:2921 Preaxial polydactyly - colobomata - intellectual disability 02-disease-root +Orphanet:2924 Isolated polycystic liver disease 01-disease-subtype +Orphanet:2925 Polymicrogyria - turricephaly - hypogenitalism 02-disease-root +Orphanet:2926 Polyneuropathy - hand defect 02-disease-root +Orphanet:2928 Polyneuropathy - intellectual disability - acromicria - premature menopause 02-disease-root +Orphanet:2929 Juvenile polyposis syndrome 01-disease-subtype +Orphanet:293144 Familial clubfoot due to 5q31 microdeletion 01-disease-subtype +Orphanet:293150 Familial clubfoot due to PITX1 point mutation 01-disease-subtype +Orphanet:293165 Skin fragility-woolly hair-palmoplantar keratoderma syndrome 01-disease-subtype +Orphanet:293168 Infantile-onset ascending hereditary spastic paralysis 02-disease-root +Orphanet:293181 Malignant migrating partial seizures of infancy 01-disease-subtype +Orphanet:293284 Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria 01-disease-subtype +Orphanet:293355 Methylmalonic acidemia without homocystinuria 03-disease-area +Orphanet:293381 Epithelial recurrent erosion dystrophy 01-disease-subtype +Orphanet:2934 Polysyndactyly - cardiac malformation 02-disease-root +Orphanet:293462 Pre-Descemet corneal dystrophy 01-disease-subtype +Orphanet:2935 Crossed polysyndactyly 02-disease-root +Orphanet:293633 PYCR1-related De Barsy syndrome 01-disease-subtype +Orphanet:293642 Blepharophimosis-intellectual disability syndrome 02-disease-root +Orphanet:293707 Blepharophimosis-intellectual disability syndrome, MKB type 01-disease-subtype +Orphanet:293725 Blepharophimosis-intellectual disability syndrome, Verloes type 01-disease-subtype +Orphanet:293822 MITF-related melanoma and renal cell carcinoma predisposition syndrome 02-disease-root +Orphanet:293825 Congenital dyserythropoietic anemia type IV 01-disease-subtype +Orphanet:293830 Constitutional dyserythropoietic anemia 02-disease-root +Orphanet:293848 Right temporal lobar atrophy 01-disease-subtype +Orphanet:293864 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome 01-disease-subtype +Orphanet:293888 Familial isolated arrhythmogenic ventricular dysplasia, left dominant form 01-disease-subtype +Orphanet:293899 Familial isolated arrhythmogenic ventricular dysplasia, biventricular form 01-disease-subtype +Orphanet:293910 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form 01-disease-subtype +Orphanet:293925 Lethal occipital encephalocele-skeletal dysplasia syndrome 02-disease-root +Orphanet:293939 Distal Xq28 microduplication syndrome 01-disease-subtype +Orphanet:293955 Childhood encephalopathy due to thiamine pyrophosphokinase deficiency 01-disease-subtype +Orphanet:293958 Hypertelorism-preauricular sinus-punctual pits-deafness syndrome 02-disease-root +Orphanet:293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy 02-disease-root +Orphanet:293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome 01-disease-subtype +Orphanet:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome 01-disease-subtype +Orphanet:293987 Rapid-onset childhood obesity - hypothalamic dysfunction - hypoventilation - autonomic dysregulation syndrome 01-disease-subtype +Orphanet:2940 Porencephaly 01-disease-subtype +Orphanet:294016 Microcephaly-capillary malformation syndrome 01-disease-subtype +Orphanet:294023 Neonatal inflammatory skin and bowel disease 02-disease-root +Orphanet:294049 Reunion Island's Larsen syndrome 01-disease-subtype +Orphanet:294060 Multiple pterygium syndrome 02-disease-root +Orphanet:294415 Renal-hepatic-pancreatic dysplasia 01-disease-subtype +Orphanet:2946 Brachydactyly - long thumb 01-disease-subtype +Orphanet:2947 Triphalangeal thumbs - brachyectrodactyly 02-disease-root +Orphanet:294925 Amelia 02-disease-root +Orphanet:294927 Intercalary limb defects 02-disease-root +Orphanet:294929 Terminal limb defects 03-disease-area +Orphanet:294931 Adactyly of hand 02-disease-root +Orphanet:294935 Split hand or/and split foot malformation 02-disease-root +Orphanet:294937 Brachydactyly 02-disease-root +Orphanet:294939 Preaxial polydactyly of fingers 02-disease-root +Orphanet:294942 Postaxial polydactyly of fingers 02-disease-root +Orphanet:294944 Congenital deformities of limbs 03-disease-area +Orphanet:294947 Congenital deformities of fingers 02-disease-root +Orphanet:294949 Joint formation defects 03-disease-area +Orphanet:294951 Congenital joint dislocations 03-disease-area +Orphanet:294953 Limb overgrowth 03-disease-area +Orphanet:294957 Dysostosis with combined reduction defects of upper and lower limbs 02-disease-root +Orphanet:294959 Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy 03-disease-area +Orphanet:294963 Popliteal pterygium syndrome 02-disease-root +Orphanet:294965 Lethal congenital contracture syndrome 02-disease-root +Orphanet:294967 Amelia of upper limb 01-disease-subtype +Orphanet:294969 Amelia of lower limb 01-disease-subtype +Orphanet:294971 Tetra-amelia 01-disease-subtype +Orphanet:294973 Humeral agenesis/hypoplasia 02-disease-root +Orphanet:294975 Congenital absence of upper arm and forearm with hand present 01-disease-subtype +Orphanet:294977 Congenital absence of thigh and lower leg with foot present 01-disease-subtype +Orphanet:294979 Congenital absence of both forearm and hand 02-disease-root +Orphanet:294981 Congenital absence of both lower leg and foot 02-disease-root +Orphanet:294983 Acheiria 02-disease-root +Orphanet:294986 Apodia 02-disease-root +Orphanet:294988 Congenital absence/hypoplasia of thumb 01-disease-subtype +Orphanet:294990 Congenital absence/hypoplasia of fingers excluding thumb 01-disease-subtype +Orphanet:294992 Split hand 01-disease-subtype +Orphanet:294994 Split foot 01-disease-subtype +Orphanet:294996 Brachydactyly of fingers 01-disease-subtype +Orphanet:294998 Brachydactyly of toes 01-disease-subtype +Orphanet:2950 Triphalangeal thumb - polysyndactyly syndrome 02-disease-root +Orphanet:295000 Constriction rings syndrome 01-disease-subtype +Orphanet:295002 Hyperphalangy 02-disease-root +Orphanet:295004 Central polydactyly of fingers 02-disease-root +Orphanet:295008 Postaxial polydactyly of toes 02-disease-root +Orphanet:295010 Central polydactyly of toes 02-disease-root +Orphanet:295012 Syndactyly type 6 02-disease-root +Orphanet:295014 Familial isolated clinodactyly of fingers 01-disease-subtype +Orphanet:295016 Camptodactyly of fingers 01-disease-subtype +Orphanet:295018 Congenital pseudoarthrosis of the tibia 01-disease-subtype +Orphanet:295020 Congenital pseudoarthrosis of the femur 01-disease-subtype +Orphanet:295022 Congenital pseudoarthrosis of the fibula 01-disease-subtype +Orphanet:295024 Congenital pseudoarthrosis of the radius 01-disease-subtype +Orphanet:295026 Congenital pseudoarthrosis of the ulna 01-disease-subtype +Orphanet:295028 Tibio-fibular synostosis 02-disease-root +Orphanet:295030 Congenital shoulder dislocation 02-disease-root +Orphanet:295032 Congenital elbow dislocation 02-disease-root +Orphanet:295034 Congenital knee dislocation 02-disease-root +Orphanet:295036 Congenital patella dislocation 02-disease-root +Orphanet:295038 Patella aplasia/hypoplasia, unilateral 01-disease-subtype +Orphanet:295041 Patella aplasia/hypoplasia, bilateral 01-disease-subtype +Orphanet:295044 Macrodactyly of fingers 02-disease-root +Orphanet:295047 Macrodactyly of toes 02-disease-root +Orphanet:295049 Upper limb hypertrophy 02-disease-root +Orphanet:295051 Lower limb hypertrophy 02-disease-root +Orphanet:295053 Amelia of upper limb, unilateral 01-disease-subtype +Orphanet:295055 Amelia of upper limb, bilateral 01-disease-subtype +Orphanet:295057 Amelia of lower limb, unilateral 01-disease-subtype +Orphanet:295059 Amelia of lower limb, bilateral 01-disease-subtype +Orphanet:295061 Humeral agenesis/hypoplasia, unilateral 01-disease-subtype +Orphanet:295063 Humeral agenesis/hypoplasia, bilateral 01-disease-subtype +Orphanet:295065 Femoral agenesis/hypoplasia, unilateral 01-disease-subtype +Orphanet:295067 Femoral agenesis/hypoplasia, bilateral 01-disease-subtype +Orphanet:295069 Radial hemimelia, unilateral 01-disease-subtype +Orphanet:295071 Radial hemimelia, bilateral 01-disease-subtype +Orphanet:295073 Ulnar hemimelia, bilateral 01-disease-subtype +Orphanet:295075 Ulnar hemimelia, unilateral 01-disease-subtype +Orphanet:295077 Tibial hemimelia, unilateral 01-disease-subtype +Orphanet:295079 Tibial hemimelia, bilateral 01-disease-subtype +Orphanet:295081 Fibular hemimelia, unilateral 01-disease-subtype +Orphanet:295083 Fibular hemimelia, bilateral 01-disease-subtype +Orphanet:295085 Congenital absence of upper arm and forearm with hand present, unilateral 01-disease-subtype +Orphanet:295087 Congenital absence of upper arm and forearm with hand present, bilateral 01-disease-subtype +Orphanet:295089 Congenital absence of thigh and lower leg with foot present, unilateral 01-disease-subtype +Orphanet:295091 Congenital absence of thigh and lower leg with foot present, bilateral 01-disease-subtype +Orphanet:295093 Congenital absence of both forearm and hand, unilateral 01-disease-subtype +Orphanet:295095 Congenital absence of both forearm and hand, bilateral 01-disease-subtype +Orphanet:295097 Congenital absence of both lower leg and foot, unilateral 01-disease-subtype +Orphanet:295099 Congenital absence of both lower leg and foot, bilateral 01-disease-subtype +Orphanet:2951 Absent thumb - short stature - immunodeficiency 02-disease-root +Orphanet:295101 Acheiria, unilateral 01-disease-subtype +Orphanet:295103 Acheiria, bilateral 01-disease-subtype +Orphanet:295105 Apodia, unilateral 01-disease-subtype +Orphanet:295107 Apodia, bilateral 01-disease-subtype +Orphanet:295110 Congenital absence/hypoplasia of thumb, unilateral 01-disease-subtype +Orphanet:295112 Congenital absence/hypoplasia of thumb, bilateral 01-disease-subtype +Orphanet:295114 Congenital absence/hypoplasia of fingers excluding thumb, bilateral 01-disease-subtype +Orphanet:295116 Adactyly of foot, unilateral 01-disease-subtype +Orphanet:295118 Adactyly of foot, bilateral 01-disease-subtype +Orphanet:295120 Split hand, unilateral 01-disease-subtype +Orphanet:295122 Split hand, bilateral 01-disease-subtype +Orphanet:295124 Split foot, unilateral 01-disease-subtype +Orphanet:295126 Split foot, bilateral 01-disease-subtype +Orphanet:295128 Brachydactyly of fingers, unilateral 01-disease-subtype +Orphanet:295130 Brachydactyly of fingers, bilateral 01-disease-subtype +Orphanet:295132 Brachydactyly of toes, unilateral 01-disease-subtype +Orphanet:295134 Brachydactyly of toes, bilateral 01-disease-subtype +Orphanet:295136 Symbrachydactyly of hand and foot, unilateral 01-disease-subtype +Orphanet:295138 Symbrachydactyly of hand and foot, bilateral 01-disease-subtype +Orphanet:295140 Hyperphalangy, unilateral 01-disease-subtype +Orphanet:295142 Hyperphalangy, bilateral 01-disease-subtype +Orphanet:295144 Polydactyly of a biphalangeal thumb, unilateral 01-disease-subtype +Orphanet:295146 Polydactyly of a biphalangeal thumb, bilateral 01-disease-subtype +Orphanet:295148 Polydactyly of a triphalangeal thumb, unilateral 01-disease-subtype +Orphanet:295150 Polydactyly of a triphalangeal thumb, bilateral 01-disease-subtype +Orphanet:295152 Polydactyly of an index finger, unilateral 01-disease-subtype +Orphanet:295154 Polydactyly of an index finger, bilateral 01-disease-subtype +Orphanet:295159 Polysyndactyly, unilateral 01-disease-subtype +Orphanet:295161 Polysyndactyly, bilateral 01-disease-subtype +Orphanet:295163 Postaxial polydactyly type A, unilateral 01-disease-subtype +Orphanet:295165 Postaxial polydactyly type A, bilateral 01-disease-subtype +Orphanet:295167 Postaxial polydactyly type B, unilateral 01-disease-subtype +Orphanet:295169 Postaxial polydactyly type B, bilateral 01-disease-subtype +Orphanet:295171 Central polydactyly of fingers, unilateral 01-disease-subtype +Orphanet:295173 Central polydactyly of fingers, bilateral 01-disease-subtype +Orphanet:295179 Postaxial polydactyly of toes, unilateral 01-disease-subtype +Orphanet:295181 Postaxial polydactyly of toes, bilateral 01-disease-subtype +Orphanet:295183 Central polydactyly of toes, unilateral 01-disease-subtype +Orphanet:295185 Central polydactyly of toes, bilateral 01-disease-subtype +Orphanet:295187 Zygodactyly type 1 01-disease-subtype +Orphanet:295189 Zygodactyly type 2 01-disease-subtype +Orphanet:295191 Zygodactyly type 3 01-disease-subtype +Orphanet:295193 Zygodactyly type 4 01-disease-subtype +Orphanet:295195 Synpolydactyly type 1 01-disease-subtype +Orphanet:295197 Synpolydactyly type 2 01-disease-subtype +Orphanet:295199 Synpolydactyly type 3 01-disease-subtype +Orphanet:2952 Adducted thumbs - arthrogryposis, Christian type 01-disease-subtype +Orphanet:295201 Congenital vertical talus, unilateral 01-disease-subtype +Orphanet:295203 Congenital vertical talus, bilateral 01-disease-subtype +Orphanet:295205 Humero-radio-ulnar synostosis, unilateral 01-disease-subtype +Orphanet:295207 Humero-radio-ulnar synostosis, bilateral 01-disease-subtype +Orphanet:295209 Humero-radial synostosis, unilateral 01-disease-subtype +Orphanet:295211 Humero-radial synostosis, bilateral 01-disease-subtype +Orphanet:295213 Humero-ulnar synostosis, unilateral 01-disease-subtype +Orphanet:295215 Humero-ulnar synostosis, bilateral 01-disease-subtype +Orphanet:295217 Radio-ulnar synostosis, unilateral 01-disease-subtype +Orphanet:295219 Radio-ulnar synostosis, bilateral 01-disease-subtype +Orphanet:295225 Congenital elbow dislocation, unilateral 01-disease-subtype +Orphanet:295227 Congenital elbow dislocation, bilateral 01-disease-subtype +Orphanet:295229 Congenital genu recurvatum 01-disease-subtype +Orphanet:295232 Congenital genu flexum 01-disease-subtype +Orphanet:295234 Congenital patella dislocation, unilateral 01-disease-subtype +Orphanet:295237 Congenital patella dislocation, bilateral 01-disease-subtype +Orphanet:295239 Macrodactyly of fingers, unilateral 01-disease-subtype +Orphanet:295241 Macrodactyly of fingers, bilateral 01-disease-subtype +Orphanet:295243 Macrodactyly of toes, unilateral 01-disease-subtype +Orphanet:295245 Macrodactyly of toes, bilateral 01-disease-subtype +Orphanet:2958 X-linked intellectual disability - dysmorphism - cerebral atrophy 02-disease-root +Orphanet:2959 Progéria - short stature - pigmented nevi 02-disease-root +Orphanet:296 Enchondromatosis 02-disease-root +Orphanet:2962 De Barsy syndrome 02-disease-root +Orphanet:2963 Progeroid syndrome, Petty type 02-disease-root +Orphanet:2964 Autosomal dominant prognathism 02-disease-root +Orphanet:2966 Properdin deficiency 01-disease-subtype +Orphanet:2968 Leukocyte adhesion deficiency 02-disease-root +Orphanet:2970 Prune belly syndrome 02-disease-root +Orphanet:2971 Peroxisomal acyl-CoA oxidase deficiency 02-disease-root +Orphanet:2972 Non-eruption of teeth - maxillary hypoplasia - genu valgum 02-disease-root +Orphanet:2973 46,XX disorder of sex development - anorectal anomalies 01-disease-subtype +Orphanet:2975 46,XX disorder of sex development - skeletal anomalies 01-disease-subtype +Orphanet:2976 Pseudoleprechaunism syndrome, Patterson type 02-disease-root +Orphanet:2978 Chronic intestinal pseudoobstruction 01-disease-subtype +Orphanet:298 Mitochondrial neurogastrointestinal encephalomyopathy 01-disease-subtype +Orphanet:2980 Acro-oto-ocular syndrome 02-disease-root +Orphanet:2983 Disorder of sex development - intellectual disability 01-disease-subtype +Orphanet:2985 Pseudoprogeria syndrome 02-disease-root +Orphanet:298644 Disorder of thiamine metabolism and transport 01-disease-subtype +Orphanet:2987 Antecubital pterygium syndrome 02-disease-root +Orphanet:2988 Pterygium colli - intellectual disability - digital anomalies 02-disease-root +Orphanet:2989 Pterygium of the conjunctiva, familial form 02-disease-root +Orphanet:2990 Autosomal recessive multiple pterygium syndrome 01-disease-subtype +Orphanet:2994 Short stature - craniofacial anomalies - genital hypoplasia 02-disease-root +Orphanet:2995 Baraitser-Winter syndrome 01-disease-subtype +Orphanet:2997 Ptosis - vocal cord paralysis 02-disease-root +Orphanet:2999 Ptosis - strabismus - ectopic pupils 02-disease-root +Orphanet:30 Hereditary orotic aciduria 01-disease-subtype +Orphanet:300284 Connective tissue disorder due to lysyl hydroxylase-3 deficiency 02-disease-root +Orphanet:300293 Transient infantile hypertriglyceridemia and hepatosteatosis 01-disease-subtype +Orphanet:300298 Severe congenital hypochromic anemia with ringed sideroblasts 01-disease-subtype +Orphanet:3003 Pyknoachondrogenesis 01-disease-subtype +Orphanet:300313 Congenital cataract-hearing loss-severe developmental delay syndrome 02-disease-root +Orphanet:300333 Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome 02-disease-root +Orphanet:300345 Autosomal recessive systemic lupus erythematosus 02-disease-root +Orphanet:300359 PLCG2-associated antibody deficiency and immune dysregulation 01-disease-subtype +Orphanet:300373 Familial infantile gigantism 02-disease-root +Orphanet:300382 Progeroid and marfanoid aspect-lipodystrophy syndrome 02-disease-root +Orphanet:3004 Mirror polydactyly - vertebral segmentation - limbs defects 02-disease-root +Orphanet:300496 Multiple congenital anomalies-hypotonia-seizures syndrome type 2 01-disease-subtype +Orphanet:300525 Pseudohypoaldosteronism type 2D 01-disease-subtype +Orphanet:300530 Pseudohypoaldosteronism type 2E 01-disease-subtype +Orphanet:300547 Autosomal recessive infantile hypercalcemia 02-disease-root +Orphanet:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation 02-disease-root +Orphanet:300573 Polymicrogyria due to TUBB2B mutation 01-disease-subtype +Orphanet:300576 Oligodontia - cancer predisposition syndrome 01-disease-subtype +Orphanet:3006 Pyridoxine-dependent epilepsy 01-disease-subtype +Orphanet:300605 Juvenile amyotrophic lateral sclerosis 01-disease-subtype +Orphanet:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation 01-disease-subtype +Orphanet:3010 Qazi-Markouizos syndrome 02-disease-root +Orphanet:3011 Spastic tetraplegia - retinitis pigmentosa - intellectual disability 01-disease-subtype +Orphanet:3015 Radio-renal syndrome 02-disease-root +Orphanet:3016 Radius absent - anogenital anomalies 02-disease-root +Orphanet:302 Epidermodysplasia verruciformis 02-disease-root +Orphanet:3020 Ramsay-Hunt syndrome 02-disease-root +Orphanet:3021 RAPADILINO syndrome 02-disease-root +Orphanet:3027 Caudal regression sequence 02-disease-root +Orphanet:303 Dystrophic epidermolysis bullosa 02-disease-root +Orphanet:3034 Delayed membranous cranial ossification 01-disease-subtype +Orphanet:3035 Growth delay - hydrocephaly - lung hypoplasia 02-disease-root +Orphanet:3038 Delayed speech - facial asymmetry - strabismus - ear lobe creases 02-disease-root +Orphanet:30391 Biliary atresia 02-disease-root +Orphanet:304 Epidermolysis bullosa simplex 02-disease-root +Orphanet:3041 Intellectual disability - balding - patella luxation - acromicria 01-disease-subtype +Orphanet:3042 Intellectual disability - cataracts - calcified pinnae - myopathy 02-disease-root +Orphanet:3044 Intellectual disability - dysmorphism - hypogonadism - diabetes mellitus 02-disease-root +Orphanet:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type 01-disease-subtype +Orphanet:305 Junctional epidermolysis bullosa 02-disease-root +Orphanet:3050 Intellectual disability - hypotonia - skin hyperpigmentation 02-disease-root +Orphanet:3051 intellectual disability - sparse hair - brachydactyly 02-disease-root +Orphanet:3052 X-linked intellectual disability - seizures - psoriasis 02-disease-root +Orphanet:3057 Monoamine oxidase A deficiency 01-disease-subtype +Orphanet:3059 X-linked intellectual disability, Gu type 02-disease-root +Orphanet:306 Benign familial infantile epilepsy 01-disease-subtype +Orphanet:3061 X-linked intellectual disability, Raynaud type 02-disease-root +Orphanet:3063 X-linked intellectual disability, Snyder type 02-disease-root +Orphanet:3064 X-linked intellectual disability, Wittner type 02-disease-root +Orphanet:306436 Congenital sucrase-isomaltase deficiency with starch intolerance 01-disease-subtype +Orphanet:306446 Congenital sucrase-isomaltase deficiency with minimal starch tolerance 01-disease-subtype +Orphanet:306462 Congenital sucrase-isomaltase deficiency without starch intolerance 01-disease-subtype +Orphanet:306474 Congenital sucrase-isomaltase deficiency with starch and lactose intolerance 01-disease-subtype +Orphanet:306486 Congenital sucrase-isomaltase deficiency without sucrose intolerance 01-disease-subtype +Orphanet:306504 Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome 01-disease-subtype +Orphanet:306511 Autosomal recessive spastic paraplegia type 48 01-disease-subtype +Orphanet:306516 Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 01-disease-subtype +Orphanet:306519 Familial primary hypomagnesemia with hypocalcuria 01-disease-subtype +Orphanet:306522 Familial primary hypomagnesemia with normocalcuria 01-disease-subtype +Orphanet:306527 Isolated hereditary congenital facial paralysis 01-disease-subtype +Orphanet:306530 Congenital hereditary facial paralysis with variable hearing loss 01-disease-subtype +Orphanet:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome 01-disease-subtype +Orphanet:306547 Porencephaly-microcephaly-bilateral congenital cataract syndrome 02-disease-root +Orphanet:306561 Autosomal dominant childhood-onset cortical cataract 01-disease-subtype +Orphanet:306577 Sodium channelopathy-related small fiber neuropathy 02-disease-root +Orphanet:306588 Autosomal dominant Opitz G/BBB syndrome 01-disease-subtype +Orphanet:306661 familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome 01-disease-subtype +Orphanet:306669 Hemiparkinsonism-hemiatrophy syndrome 01-disease-subtype +Orphanet:3067 Intellectual disability - microcephaly - phalangeal - facial abnormalities 02-disease-root +Orphanet:306708 Frontotemporal neurodegeneration with movement disorder 03-disease-area +Orphanet:306719 Neurodegenerative disease with chorea 03-disease-area +Orphanet:306734 Primary dystonia, DYT21 type 01-disease-subtype +Orphanet:306756 Epilepsy and/or ataxia with myoclonus as major feature 02-disease-root +Orphanet:306759 Non progressive epilepsy and/or ataxia with myoclonus as a major feature 01-disease-subtype +Orphanet:306765 Motor stereotypies 02-disease-root +Orphanet:306768 Rare paroxysmal movement disorder 03-disease-area +Orphanet:3068 Intellectual disability - myopathy - short stature - endocrine defect 01-disease-subtype +Orphanet:307 Juvenile myoclonic epilepsy 01-disease-subtype +Orphanet:307052 Rare genetic parkinsonian disorder 03-disease-area +Orphanet:307055 Rare parkinsonian syndrome due to genetic neurodegenerative disease 02-disease-root +Orphanet:307058 Miscellaneous movement disorder due to genetic neurodegenerative disease 03-disease-area +Orphanet:307061 Rare genetic tremor disorder 02-disease-root +Orphanet:307067 Rare genetic disease with myoclonus as a major feature 03-disease-area +Orphanet:307141 Diffuse palmoplantar keratoderma 02-disease-root +Orphanet:307148 Isolated diffuse palmoplantar keratoderma 01-disease-subtype +Orphanet:3074 Intellectual disability - short stature - hypertelorism 02-disease-root +Orphanet:3077 X-linked intellectual disability - psychosis - macroorchidism 02-disease-root +Orphanet:307711 Disease with diffuse palmoplantar keratoderma as a major feature 01-disease-subtype +Orphanet:307766 Curly hair-acral keratoderma-caries syndrome 01-disease-subtype +Orphanet:307773 Autosomal dominant diffuse mutilating palmoplantar keratoderma 01-disease-subtype +Orphanet:3078 Severe X-linked intellectual disability, Gustavson type 02-disease-root +Orphanet:307804 Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature 01-disease-subtype +Orphanet:307837 Focal palmoplantar keratoderma 02-disease-root +Orphanet:307846 Isolated focal palmoplantar keratoderma 01-disease-subtype +Orphanet:307871 Disease with focal palmoplantar keratoderma as a major feature 01-disease-subtype +Orphanet:3079 Intellectual disability, Buenos-Aires type 02-disease-root +Orphanet:307936 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome 01-disease-subtype +Orphanet:307967 Punctate palmoplantar keratoderma 02-disease-root +Orphanet:307995 Marginal papular palmoplantar keratoderma 01-disease-subtype +Orphanet:308 Unverricht-Lundborg disease 01-disease-subtype +Orphanet:3080 Intellectual disability, Wolff type 02-disease-root +Orphanet:308013 Focal acral hyperkeratosis 01-disease-subtype +Orphanet:308023 Disease with punctate palmoplantar keratoderma as a major feature 01-disease-subtype +Orphanet:308031 Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature 01-disease-subtype +Orphanet:308041 Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature 01-disease-subtype +Orphanet:308166 Erythrokeratoderma variabilis progressiva 02-disease-root +Orphanet:3082 Intellectual disability - polydactyly - uncombable hair 02-disease-root +Orphanet:308380 Methylcobalamin deficiency type cblDv1 01-disease-subtype +Orphanet:308386 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 01-disease-subtype +Orphanet:308393 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B 01-disease-subtype +Orphanet:308400 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C 01-disease-subtype +Orphanet:308407 Disorder of beta and omega amino acid metabolism 02-disease-root +Orphanet:308425 Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency 02-disease-root +Orphanet:308442 Vitamin B12-responsive methylmalonic acidemia, type cblDv2 01-disease-subtype +Orphanet:308448 Aminoacylase deficiency 01-disease-subtype +Orphanet:308451 Disorder of neutral amino acid transport 01-disease-subtype +Orphanet:308459 Disorder of glycolysis 02-disease-root +Orphanet:308463 Disorder of fructose metabolism 02-disease-root +Orphanet:308467 Disorder of galactose metabolism 02-disease-root +Orphanet:308473 Erythrocyte galactose epimerase deficiency 01-disease-subtype +Orphanet:308487 Generalized galactose epimerase deficiency 01-disease-subtype +Orphanet:3085 Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism 01-disease-subtype +Orphanet:308520 Glycogen storage disease due to glycogen synthase deficiency 02-disease-root +Orphanet:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset 01-disease-subtype +Orphanet:308573 Glycogen storage disease due to acid maltase deficiency, juvenile onset 01-disease-subtype +Orphanet:3086 Autosomal dominant vitreoretinochoroidopathy 02-disease-root +Orphanet:308604 Glycogen storage disease due to acid maltase deficiency, adult onset 01-disease-subtype +Orphanet:308621 Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form 01-disease-subtype +Orphanet:308638 Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form 01-disease-subtype +Orphanet:308655 Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form 01-disease-subtype +Orphanet:308670 Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form 01-disease-subtype +Orphanet:308684 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form 01-disease-subtype +Orphanet:308698 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form 01-disease-subtype +Orphanet:3087 Retinohepatoendocrinologic syndrome 02-disease-root +Orphanet:308712 Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form 01-disease-subtype +Orphanet:308993 Glycerol kinase deficiency 01-disease-subtype +Orphanet:308998 Disorder of glyoxylate metabolism 02-disease-root +Orphanet:309 Familial partial epilepsy 01-disease-subtype +Orphanet:309001 Disorder of carbohydrate absorption and transport 02-disease-root +Orphanet:309005 Disorder of lipid metabolism 03-disease-area +Orphanet:309015 Familial lipoprotein lipase deficiency 01-disease-subtype +Orphanet:309020 Familial apolipoprotein C-II deficiency 01-disease-subtype +Orphanet:309025 Mevalonate kinase deficiency 01-disease-subtype +Orphanet:309028 Disorder of lipid absorption and transport 02-disease-root +Orphanet:309031 Pancreatic triacylglycerol lipase deficiency 01-disease-subtype +Orphanet:309108 Pancreatic colipase deficiency 01-disease-subtype +Orphanet:309111 Combined pancreatic lipase-colipase deficiency 01-disease-subtype +Orphanet:309120 Acyl-CoA dehydrogenase deficiency 01-disease-subtype +Orphanet:309130 Disorder of carnitine cycle and carnitine transport 02-disease-root +Orphanet:309133 Metabolic disease due to other fatty acid oxidation disorder 02-disease-root +Orphanet:309136 Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes 02-disease-root +Orphanet:309144 Gangliosidosis 02-disease-root +Orphanet:309147 Hyper-beta-alaninemia 01-disease-subtype +Orphanet:309178 Tay-Sachs disease, B variant, infantile form 01-disease-subtype +Orphanet:309185 Tay-Sachs disease, B variant, juvenile form 01-disease-subtype +Orphanet:309192 Tay-Sachs disease, B variant, adult form 01-disease-subtype +Orphanet:30924 Primary hypomagnesemia with secondary hypocalcemia 01-disease-subtype +Orphanet:309246 GM2-gangliosidosis, AB variant 02-disease-root +Orphanet:30925 Hereditary central diabetes insipidus 02-disease-root +Orphanet:309252 Atypical Gaucher disease due to saposin C deficiency 01-disease-subtype +Orphanet:309256 Metachromatic leukodystrophy, late infantile form 01-disease-subtype +Orphanet:309263 Metachromatic leukodystrophy, juvenile form 01-disease-subtype +Orphanet:309271 Metachromatic leukodystrophy, adult form 01-disease-subtype +Orphanet:309279 Glycoproteinosis 03-disease-area +Orphanet:309282 Alpha-mannosidosis, infantile form 01-disease-subtype +Orphanet:309288 Alpha-mannosidosis, adult form 01-disease-subtype +Orphanet:309297 Mucopolysaccharidosis type 4A 01-disease-subtype +Orphanet:309310 Mucopolysaccharidosis type 4B 01-disease-subtype +Orphanet:309319 Disorder of sialic acid metabolism 02-disease-root +Orphanet:309324 Free sialic acid storage disease, infantile form 01-disease-subtype +Orphanet:309331 Intermediate severe Salla disease 01-disease-subtype +Orphanet:309337 Lysosomal glycogen storage disease 02-disease-root +Orphanet:309340 Disorder of lysosomal-related organelles 02-disease-root +Orphanet:309347 Disorder of protein N-glycosylation 02-disease-root +Orphanet:309447 Disorder of protein O-glycosylation 03-disease-area +Orphanet:309450 Disorder of O-xylosylglycan synthesis 02-disease-root +Orphanet:309458 Disorder of O-N-acetylgalactosaminylglycan synthesis 02-disease-root +Orphanet:309463 Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis 02-disease-root +Orphanet:309469 Disorder of O-mannosylglycan synthesis 02-disease-root +Orphanet:3095 Atypical Rett syndrome 01-disease-subtype +Orphanet:309505 Disorder of fucoglycosan synthesis 02-disease-root +Orphanet:309515 Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation 02-disease-root +Orphanet:309526 Disorder of multiple glycosylation 02-disease-root +Orphanet:309568 Defect in conserved oligomeric Golgi complex 01-disease-subtype +Orphanet:309778 Defect in V-ATPase 01-disease-subtype +Orphanet:309789 Rhizomelic chondrodysplasia punctata type 1 01-disease-subtype +Orphanet:309796 Rhizomelic chondrodysplasia punctata type 2 01-disease-subtype +Orphanet:3098 Rhizomelic syndrome, Urbach type 01-disease-subtype +Orphanet:309803 Rhizomelic chondrodysplasia punctata type 3 01-disease-subtype +Orphanet:309813 Disorder of porphyrin and haem metabolism 02-disease-root +Orphanet:309816 Disorder of bilirubin metabolism and excretion 01-disease-subtype +Orphanet:309819 Disorder of pterin metabolism 01-disease-subtype +Orphanet:309824 Disorder of metabolite absorption and transport 03-disease-area +Orphanet:309827 Disorder of vitamin and non-protein cofactor absorption and transport  02-disease-root +Orphanet:309830 Disorder of catecholamine synthesis 01-disease-subtype +Orphanet:309833 Disorder of other vitamins and cofactors metabolism and transport 01-disease-subtype +Orphanet:309836 Disorder of mineral absorption and transport 02-disease-root +Orphanet:309839 Disorder of copper metabolism 01-disease-subtype +Orphanet:309842 Disorder of iron metabolism and transport 01-disease-subtype +Orphanet:309845 Disorder of zinc metabolism 01-disease-subtype +Orphanet:309848 Disorder of magnesium transport 01-disease-subtype +Orphanet:309851 Disorder of manganese transport 01-disease-subtype +Orphanet:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome 01-disease-subtype +Orphanet:31 Oxoglutaricaciduria 01-disease-subtype +Orphanet:3104 Robin sequence - oligodactyly 02-disease-root +Orphanet:3107 Autosomal dominant Robinow syndrome 01-disease-subtype +Orphanet:3109 Mayer-Rokitansky-Küster-Hauser syndrome 01-disease-subtype +Orphanet:31112 Dermatofibrosarcoma protuberans 01-disease-subtype +Orphanet:3115 Roussy-Lévy syndrome 01-disease-subtype +Orphanet:31153 Hypoalphalipoproteinemia 01-disease-subtype +Orphanet:31154 Hypobetalipoproteinemia 01-disease-subtype +Orphanet:312 Epidermolytic ichthyosis 02-disease-root +Orphanet:3124 Saccharopinuria 01-disease-subtype +Orphanet:3129 Sarcosinemia 01-disease-subtype +Orphanet:313 Lamellar ichthyosis 01-disease-subtype +Orphanet:3133 Say-Field-Coldwell syndrome 02-disease-root +Orphanet:3135 Familial Scheuermann disease 01-disease-subtype +Orphanet:3137 Alpha-N-acetylgalactosaminidase deficiency 01-disease-subtype +Orphanet:313772 Early-onset spastic ataxia-neuropathy syndrome 01-disease-subtype +Orphanet:3138 Ulnar-mammary syndrome 01-disease-subtype +Orphanet:313800 Optic nerve edema-splenomegaly syndrome 01-disease-subtype +Orphanet:313808 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia 02-disease-root +Orphanet:313846 Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome 02-disease-root +Orphanet:313850 Infantile cerebellar-retinal degeneration 01-disease-subtype +Orphanet:313892 Developmental and speech delay due to SOX5 deficiency 02-disease-root +Orphanet:314 Erythroderma desquamativum 02-disease-root +Orphanet:314002 Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome 02-disease-root +Orphanet:314029 High bone mass osteogenesis imperfecta 01-disease-subtype +Orphanet:314041 Marfanoid habitus - inguinal hernia - advanced bone age 02-disease-root +Orphanet:314051 Leukoencephalopathy - thalamus and brainstem anomalies - high lactate 01-disease-subtype +Orphanet:314373 Chronic diarrhea due to guanylate cyclase 2C overactivity 01-disease-subtype +Orphanet:314376 Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency 01-disease-subtype +Orphanet:314381 Hereditary sensory and autonomic neuropathy type 6 01-disease-subtype +Orphanet:314394 Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome 01-disease-subtype +Orphanet:314399 Autosomal dominant aplasia and myelodysplasia 02-disease-root +Orphanet:3144 Schneckenbecken dysplasia 01-disease-subtype +Orphanet:314404 Autosomal dominant cerebellar ataxia, deafness and narcolepsy 01-disease-subtype +Orphanet:314485 Young adult-onset distal hereditary motor neuropathy 01-disease-subtype +Orphanet:3145 Nephrogenic diabetes insipidus - intracranial calcification 02-disease-root +Orphanet:314555 Craniofacial dysplasia-osteopenia syndrome 02-disease-root +Orphanet:314572 Autosomal recessive leukoencephalopathy with ischemic stroke-retinitis pigmentosa syndrome 01-disease-subtype +Orphanet:314575 Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome 02-disease-root +Orphanet:314588 Distal tetrasomy 15q 01-disease-subtype +Orphanet:314603 Autosomal recessive spastic ataxia with leukoencephalopathy 01-disease-subtype +Orphanet:314621 Duplication of the pituitary gland 01-disease-subtype +Orphanet:314629 CLN11 disease 01-disease-subtype +Orphanet:314632 Parkinsonism due to ATP13A2 deficiency 01-disease-subtype +Orphanet:314637 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 01-disease-subtype +Orphanet:314647 Non-progressive cerebellar ataxia with intellectual disability 01-disease-subtype +Orphanet:314652 Autosomal dominant beta2-microglobulinic amyloidosis 02-disease-root +Orphanet:314662 Segmental progressive overgrowth syndrome with fibroadipose hyperplasia 02-disease-root +Orphanet:314679 Cerebro-facio-articular syndrome 02-disease-root +Orphanet:314689 Combined immunodeficiency due to STK4 deficiency 02-disease-root +Orphanet:314697 Acquired porencephaly 01-disease-subtype +Orphanet:314701 Primary systemic amyloidosis 01-disease-subtype +Orphanet:314709 Primary localized amyloidosis 01-disease-subtype +Orphanet:314718 Lethal arteriopathy syndrome due to fibulin-4 deficiency 01-disease-subtype +Orphanet:314721 Atypical dentin dysplasia due to SMOC2 deficiency 01-disease-subtype +Orphanet:314802 Short stature due to partial GHR deficiency 02-disease-root +Orphanet:314811 Short stature due to GHSR deficiency 02-disease-root +Orphanet:314822 Primary renal tubular acidosis 03-disease-area +Orphanet:314889 Autosomal dominant proximal renal tubular acidosis 01-disease-subtype +Orphanet:314911 Severe Canavan disease 01-disease-subtype +Orphanet:314918 Mild Canavan disease 01-disease-subtype +Orphanet:314993 Cataract-congenital heart disease-neural tube defect syndrome 02-disease-root +Orphanet:315 "Erythrokeratoderma \en cocardes""""""""" 02-disease-root +Orphanet:3151 Multiple sclerosis - ichthyosis - factor VIII deficiency 01-disease-subtype +Orphanet:3152 Sclerosteosis 01-disease-subtype +Orphanet:315306 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form 01-disease-subtype +Orphanet:315311 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form 01-disease-subtype +Orphanet:3157 Septo-optic dysplasia 01-disease-subtype +Orphanet:316226 Spastic ataxia 02-disease-root +Orphanet:316235 Autosomal dominant spastic ataxia 01-disease-subtype +Orphanet:316240 Autosomal recessive spastic ataxia 01-disease-subtype +Orphanet:316244 Partial deletion of the short arm of chromosome 12 01-disease-subtype +Orphanet:3164 Omphalocele syndrome, Shprintzen-Goldberg type 02-disease-root +Orphanet:3166 Sialuria 01-disease-subtype +Orphanet:3169 Sirenomelia 02-disease-root +Orphanet:317 Erythrokeratodermia variabilis 01-disease-subtype +Orphanet:31709 Infantile convulsions and choreoathetosis 01-disease-subtype +Orphanet:3172 Eyebrow duplication - syndactyly 02-disease-root +Orphanet:3173 Infantile spasms - broad thumbs 01-disease-subtype +Orphanet:317425 Severe combined immunodeficiency due to DNA-PKcs deficiency 01-disease-subtype +Orphanet:317428 Combined immunodeficiency due to ORAI1 deficiency 01-disease-subtype +Orphanet:317430 Combined immunodeficiency due to STIM1 deficiency 01-disease-subtype +Orphanet:317473 Pancytopenia due to IKZF1 mutations 02-disease-root +Orphanet:3175 Spasticity - intellectual disability - X-linked epilepsy 02-disease-root +Orphanet:3176 Spina bifida - hypospadias 02-disease-root +Orphanet:3177 Corneal-cerebellar syndrome 01-disease-subtype +Orphanet:3180 Spondylocamptodactyly syndrome 01-disease-subtype +Orphanet:31837 Pulmonary venoocclusive disease 01-disease-subtype +Orphanet:3184 Steatocystoma multiplex - natal teeth 01-disease-subtype +Orphanet:3186 Holoprosencephaly - radial heart renal anomalies 02-disease-root +Orphanet:3191 Subaortic stenosis - short stature 01-disease-subtype +Orphanet:319160 Congenital myopathy with internal nuclei and atypical cores 01-disease-subtype +Orphanet:319171 Distal 17p13.1 microdeletion syndrome 01-disease-subtype +Orphanet:319189 Familial cortical myoclonus 01-disease-subtype +Orphanet:319192 Diencephalic-mesencephalic junction dysplasia 02-disease-root +Orphanet:319195 Chondroectodermal dysplasia with night blindness 01-disease-subtype +Orphanet:319199 Autosomal recessive spastic paraplegia type 53 01-disease-subtype +Orphanet:3193 Supravalvular aortic stenosis 01-disease-subtype +Orphanet:319328 Inherited renal cancer-predisposing syndrome 02-disease-root +Orphanet:319332 Autosomal recessive myogenic arthrogryposis multiplex congenita 01-disease-subtype +Orphanet:319340 Carney complex-trismus-pseudocamptodactyly syndrome 01-disease-subtype +Orphanet:319465 Inherited acute myeloid leukemia 01-disease-subtype +Orphanet:319480 Acute myeloid leukemia with CEBPA somatic mutations 01-disease-subtype +Orphanet:319487 Familial papillary or follicular thyroid carcinoma 01-disease-subtype +Orphanet:319494 Familial nonmedullary thyroid carcinoma 02-disease-root +Orphanet:319504 Combined oxidative phosphorylation defect type 8 01-disease-subtype +Orphanet:319509 Combined oxidative phosphorylation defect type 9 01-disease-subtype +Orphanet:319514 Combined oxidative phosphorylation defect type 13 01-disease-subtype +Orphanet:319519 Combined oxidative phosphorylation defect type 14 01-disease-subtype +Orphanet:319524 Combined oxidative phosphorylation defect type 15 01-disease-subtype +Orphanet:319535 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency 03-disease-area +Orphanet:319539 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency 03-disease-area +Orphanet:319543 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency 03-disease-area +Orphanet:319547 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency 02-disease-root +Orphanet:319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency 02-disease-root +Orphanet:319558 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency 02-disease-root +Orphanet:319563 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency 02-disease-root +Orphanet:319569 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency 02-disease-root +Orphanet:319574 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency 02-disease-root +Orphanet:319581 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency 02-disease-root +Orphanet:319589 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency 02-disease-root +Orphanet:319595 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency 02-disease-root +Orphanet:3196 Steroid dehydrogenase deficiency - dental anomalies 02-disease-root +Orphanet:319600 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency 02-disease-root +Orphanet:319640 Retinal macular dystrophy type 2 01-disease-subtype +Orphanet:319651 Constitutional megaloblastic anemia with severe neurologic disease 01-disease-subtype +Orphanet:319671 Microcephalic primordial dwarfism, Alazami type 01-disease-subtype +Orphanet:319675 Microcephalic primordial dwarfism, Dauber type 01-disease-subtype +Orphanet:319678 Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease 01-disease-subtype +Orphanet:3197 Hereditary hyperekplexia 01-disease-subtype +Orphanet:32 Glutathione synthetase deficiency 01-disease-subtype +Orphanet:320 Apparent mineralocorticoid excess 01-disease-subtype +Orphanet:3201 Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence 02-disease-root +Orphanet:3202 Dehydrated hereditary stomatocytosis 02-disease-root +Orphanet:3203 Overhydrated hereditary stomatocytosis 02-disease-root +Orphanet:320335 Pure or complex hereditary spastic paraplegia 01-disease-subtype +Orphanet:320342 Pure or complex autosomal dominant spastic paraplegia 01-disease-subtype +Orphanet:320346 Pure or complex autosomal recessive spastic paraplegia 01-disease-subtype +Orphanet:320350 Pure or complex X-linked spastic paraplegia 01-disease-subtype +Orphanet:320355 Autosomal dominant spastic paraplegia type 41 01-disease-subtype +Orphanet:320360 Maternally-inherited spastic paraplegia 02-disease-root +Orphanet:320365 Autosomal dominant spastic paraplegia type 36 01-disease-subtype +Orphanet:320370 Autosomal recessive spastic paraplegia type 43 01-disease-subtype +Orphanet:320375 Autosomal recessive spastic paraplegia type 55 01-disease-subtype +Orphanet:320380 Autosomal recessive spastic paraplegia type 54 01-disease-subtype +Orphanet:320385 Autosomal recessive spastic paraplegia type 49 01-disease-subtype +Orphanet:320391 Autosomal recessive spastic paraplegia type 46 01-disease-subtype +Orphanet:320396 Autosomal recessive spastic paraplegia type 45 01-disease-subtype +Orphanet:3204 Stormorken-Sjaastad-Langslet syndrome 01-disease-subtype +Orphanet:320401 Autosomal recessive spastic paraplegia type 44 01-disease-subtype +Orphanet:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome 01-disease-subtype +Orphanet:320411 Autosomal recessive spastic paraplegia type 56 01-disease-subtype +Orphanet:3207 White matter hypoplasia - corpus callosum agenesis - intellectual disability 02-disease-root +Orphanet:321 Multiple osteochondromas 02-disease-root +Orphanet:3214 Deaf blind hypopigmentation syndrome, Yemenite type 01-disease-subtype +Orphanet:3217 Deafness - small bowel diverticulosis - neuropathy 02-disease-root +Orphanet:3218 Deafness - epiphyseal dysplasia - short stature 02-disease-root +Orphanet:3219 Fountain syndrome 02-disease-root +Orphanet:322 Exstrophy-epispadias complex 02-disease-root +Orphanet:3221 Generalized resistance to thyroid hormone 02-disease-root +Orphanet:322126 Genetic tumor of hematopoietic and lymphoid tissues 03-disease-area +Orphanet:3222 Phosphoribosylpyrophosphate synthetase superactivity 01-disease-subtype +Orphanet:3224 Deafness - genital anomalies - metacarpal and metatarsal synostosis 02-disease-root +Orphanet:3225 Hearing loss - familial salivary gland insensitivity to aldosterone 02-disease-root +Orphanet:3226 Deafness - lymphedema - leukemia 01-disease-subtype +Orphanet:3230 Deafness - oligodontia 02-disease-root +Orphanet:3231 Deafness-onychodystrophy syndrome 01-disease-subtype +Orphanet:3232 Deafness - ear malformation - facial palsy 02-disease-root +Orphanet:3233 Cochleosaccular degeneration - cataract 02-disease-root +Orphanet:3235 Progressive deafness with stapes fixation 02-disease-root +Orphanet:3236 Conductive deafness - ptosis - skeletal anomalies 02-disease-root +Orphanet:3237 Multiple synostoses syndrome 01-disease-subtype +Orphanet:3238 Cardiospondylocarpofacial syndrome 02-disease-root +Orphanet:3239 Deafness - vitiligo - achalasia 02-disease-root +Orphanet:3240 Central nervous system calcification - deafness - tubular acidosis - anemia 02-disease-root +Orphanet:3241 Deafness-craniofacial syndrome 02-disease-root +Orphanet:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency 01-disease-subtype +Orphanet:324290 Early-onset Lafora body disease 02-disease-root +Orphanet:324307 Severe lateral tibial bowing with short stature 01-disease-subtype +Orphanet:324321 Sinoatrial node dysfunction and deafness 02-disease-root +Orphanet:324353 Congenital achiasma 01-disease-subtype +Orphanet:324364 Mixed sclerosing bone dystrophy with extra-skeletal manifestations 01-disease-subtype +Orphanet:324381 Hereditary inclusion body myopathy type 4 01-disease-subtype +Orphanet:324410 X-linked intellectual disability - cardiomegaly - congestive heart failure 02-disease-root +Orphanet:324416 Muscular hypertrophy - hepatomegaly - polyhydramnios 02-disease-root +Orphanet:324422 ALG13-CDG 01-disease-subtype +Orphanet:324442 Autosomal recessive axonal neuropathy with neuromyotonia 01-disease-subtype +Orphanet:324525 Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation 01-disease-subtype +Orphanet:324535 Combined oxidative phosphorylation defect type 11 01-disease-subtype +Orphanet:324540 Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability 02-disease-root +Orphanet:324561 Hypopigmentation-punctate palmoplantar keratoderma syndrome 01-disease-subtype +Orphanet:324569 Pontocerebellar hypoplasia type 8 01-disease-subtype +Orphanet:324575 Hyperinsulinism due to HNF1A deficiency 01-disease-subtype +Orphanet:324581 Benign Samaritan congenital myopathy 01-disease-subtype +Orphanet:324585 Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain 01-disease-subtype +Orphanet:324588 Familial dyskinesia and facial myokymia 02-disease-root +Orphanet:3246 Symphalangism with multiple anomalies of hands and feet 01-disease-subtype +Orphanet:324604 Classic multiminicore myopathy 01-disease-subtype +Orphanet:324611 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation 01-disease-subtype +Orphanet:324703 Hereditary cerebral hemorrhage with amyloidosis, Piedmont type 01-disease-subtype +Orphanet:324708 Hereditary cerebral hemorrhage with amyloidosis, Iowa type 01-disease-subtype +Orphanet:324713 Hereditary cerebral hemorrhage with amyloidosis, Italian type 01-disease-subtype +Orphanet:324718 Hereditary cerebral hemorrhage with amyloidosis, Flemish type 01-disease-subtype +Orphanet:324723 Hereditary cerebral hemorrhage with amyloidosis, Arctic type 01-disease-subtype +Orphanet:324761 Microcephalic primordial dwarfism 01-disease-subtype +Orphanet:324764 Trichorhinophalangeal syndrome 01-disease-subtype +Orphanet:3248 Distal symphalangism 02-disease-root +Orphanet:324924 Hereditary periodic fever syndrome 02-disease-root +Orphanet:324977 Proteasome disability syndrome 02-disease-root +Orphanet:325 Congenital factor II deficiency 01-disease-subtype +Orphanet:3250 Proximal symphalangism 01-disease-subtype +Orphanet:325109 Syndrome with 46,XX disorder of sex development 01-disease-subtype +Orphanet:325124 Testicular agenesis 01-disease-subtype +Orphanet:3253 Zlotogora-Ogur syndrome 01-disease-subtype +Orphanet:325357 46,XY disorder of sex development due to impaired androgen production 01-disease-subtype +Orphanet:325448 Leydig cell hypoplasia due to LHB deficiency 01-disease-subtype +Orphanet:325511 46,XY disorder of sex development due to cholesterol synthesis defect 01-disease-subtype +Orphanet:325524 Classic congenital lipoid adrenal hyperplasia due to STAR deficency 01-disease-subtype +Orphanet:325529 Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency 01-disease-subtype +Orphanet:325546 Sex chromosome disorder of sex development 02-disease-root +Orphanet:325632 46,XY disorder of sex development of gynecological interest 02-disease-root +Orphanet:325638 Syndrome with disorder of sex development of gynecological interest 02-disease-root +Orphanet:325665 Genetic disorder of sex development of gynecological interest 03-disease-area +Orphanet:325690 Genetic disorder of sex development 03-disease-area +Orphanet:325697 Genetic 46,XX disorder of sex development 02-disease-root +Orphanet:325706 Genetic 46,XY disorder of sex development 03-disease-area +Orphanet:325713 Genetic 46,XY disorder of sex development of endocrine origin 02-disease-root +Orphanet:3258 Cenani-Lenz syndrome 02-disease-root +Orphanet:3259 Syndactyly-polydactyly-ear lobe syndrome 02-disease-root +Orphanet:326 Congenital factor V deficiency 01-disease-subtype +Orphanet:3261 Autoimmune lymphoproliferative syndrome 02-disease-root +Orphanet:3262 Syngnathia multiple anomalies 01-disease-subtype +Orphanet:3263 Syngnathia - cleft palate 02-disease-root +Orphanet:3265 Humero-radial synostosis 02-disease-root +Orphanet:3266 Humero-radio-ulnar synostosis 02-disease-root +Orphanet:3267 Familial lambdoid synostosis 01-disease-subtype +Orphanet:3268 Synostosis - microcephaly - scoliosis 01-disease-subtype +Orphanet:327 Congenital factor VII deficiency 01-disease-subtype +Orphanet:3270 Radio-ulnar synostosis - intellectual disability - hypotonia 01-disease-subtype +Orphanet:3275 Spondylocarpotarsal synostosis 01-disease-subtype +Orphanet:328 Congenital factor X deficiency 01-disease-subtype +Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia 02-disease-root +Orphanet:3289 Taurodontism 01-disease-subtype +Orphanet:329 Congenital factor XI deficiency 01-disease-subtype +Orphanet:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy 01-disease-subtype +Orphanet:329191 Tall stature - scoliosis - macrodactyly of the great toes 01-disease-subtype +Orphanet:329195 Developmental delay with autism spectrum disorder and gait instability 02-disease-root +Orphanet:329224 Intellectual disability - craniofacial dysmorphism - cryptorchidism 02-disease-root +Orphanet:329228 Microcephalic primordial dwarfism due to ZNF335 deficiency 01-disease-subtype +Orphanet:329242 Congenital chronic diarrhea with protein-losing enteropathy 02-disease-root +Orphanet:329249 Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency 01-disease-subtype +Orphanet:329252 Spondylocostal dysostosis - hypospadias - intellectual disability 01-disease-subtype +Orphanet:329255 Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency 01-disease-subtype +Orphanet:329258 Autosomal dominant Charcot-Marie-Tooth disease type 2Q 01-disease-subtype +Orphanet:3293 Telecanthus - hypertelorism - strabismus - pes cavus 02-disease-root +Orphanet:329308 Fatty acid hydroxylase-associated neurodegeneration 01-disease-subtype +Orphanet:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency 01-disease-subtype +Orphanet:329319 Hereditary thrombocytosis with transverse limb defect 01-disease-subtype +Orphanet:329324 Inverse Klippel-Trénaunay syndrome 01-disease-subtype +Orphanet:329329 Autosomal recessive frontotemporal pachygyria 02-disease-root +Orphanet:329332 Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome 01-disease-subtype +Orphanet:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy 01-disease-subtype +Orphanet:3294 Extensor tendons of finger anomalies 02-disease-root +Orphanet:329457 Distal arthrogryposis type 5D 01-disease-subtype +Orphanet:329466 Autosomal dominant focal dystonia, DYT25 01-disease-subtype +Orphanet:329475 Spastic paraplegia - Paget disease of bone 01-disease-subtype +Orphanet:329478 Adult-onset distal myopathy due to VCP mutation 01-disease-subtype +Orphanet:329481 Lipoprotein glomerulopathy 01-disease-subtype +Orphanet:32960 Tumor necrosis factor receptor 1 associated periodic syndrome 01-disease-subtype +Orphanet:329802 5p13 microduplication syndrome 01-disease-subtype +Orphanet:329813 Mosaic genome-wide paternal uniparental disomy 02-disease-root +Orphanet:329903 Immunoglobulin-mediated membranoproliferative glomerulonephritis 01-disease-subtype +Orphanet:329918 Non-immunoglobulin-mediated membranoproliferative glomerulonephritis 01-disease-subtype +Orphanet:329942 Transient neonatal multiple acyl-CoA dehydrogenase deficiency 01-disease-subtype +Orphanet:329967 Intermittent hydrarthrosis 02-disease-root +Orphanet:329971 Generalized juvenile polyposis/juvenile polyposis coli 01-disease-subtype +Orphanet:33 Isovaleric acidemia 01-disease-subtype +Orphanet:330 Congenital factor XII deficiency 01-disease-subtype +Orphanet:33001 Lymphedema - distichiasis 01-disease-subtype +Orphanet:330029 Hypotrichosis-deafness syndrome 01-disease-subtype +Orphanet:330032 Hemoglobin Lepore - beta-thalassemia 01-disease-subtype +Orphanet:330041 Autosomal dominant methemoglobinemia 01-disease-subtype +Orphanet:330050 Lethal encephalopathy due to mitochondrial and peroxisomal fission defect 01-disease-subtype +Orphanet:330054 Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay 01-disease-subtype +Orphanet:3301 Tetraamelia - multiple malformations 02-disease-root +Orphanet:330197 Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability 03-disease-area +Orphanet:330206 Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability 03-disease-area +Orphanet:3304 Fallot complex - intellectual disability - growth delay 02-disease-root +Orphanet:3305 Tetraploidy 01-disease-subtype +Orphanet:3306 Duplication/inversion 15q11 01-disease-subtype +Orphanet:33067 Metaphyseal chondrodysplasia, Jansen type 01-disease-subtype +Orphanet:33069 Dravet syndrome 01-disease-subtype +Orphanet:3307 Tetrasomy 18p 01-disease-subtype +Orphanet:3309 Tetrasomy 5p 01-disease-subtype +Orphanet:331 Congenital factor XIII deficiency 01-disease-subtype +Orphanet:3310 Tetrasomy 9p 01-disease-subtype +Orphanet:33108 Lethal multiple pterygium syndrome 01-disease-subtype +Orphanet:33110 Autosomal agammaglobulinemia 01-disease-subtype +Orphanet:331176 Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency 01-disease-subtype +Orphanet:331184 Constitutional neutropenia with extra-haematopoietic manifestations 01-disease-subtype +Orphanet:331187 Immunodeficiency due to MASP-2 deficiency 01-disease-subtype +Orphanet:331190 Immunodeficiency due to ficolin3 deficiency 01-disease-subtype +Orphanet:331193 Other immunodeficiency syndromes due to defects in innate immunity 03-disease-area +Orphanet:331220 Immunodeficiency due to absence of thymus 03-disease-area +Orphanet:331223 Hyper-IgE syndrome 02-disease-root +Orphanet:331226 Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency 01-disease-subtype +Orphanet:331232 Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells 03-disease-area +Orphanet:331235 Selective IgM deficiency 02-disease-root +Orphanet:331240 Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells 03-disease-area +Orphanet:331244 Other immunodeficiency syndrome with predominantly antibody defects 03-disease-area +Orphanet:331249 Immunodeficiency syndrome with hypopigmentation 01-disease-subtype +Orphanet:3315 Thiopurine S-methyltransferase deficiency 01-disease-subtype +Orphanet:3317 Thoracolaryngopelvic dysplasia 01-disease-subtype +Orphanet:3319 Congenital amegakaryocytic thrombocytopenia 01-disease-subtype +Orphanet:332 Congenital intrinsic factor deficiency 01-disease-subtype +Orphanet:3320 Thrombocytopenia - absent radius 01-disease-subtype +Orphanet:3323 Thrombocytopenia - Robin sequence 02-disease-root +Orphanet:3324 Familial thrombomodulin anomalies 01-disease-subtype +Orphanet:3326 Thymic-renal-anal-lung dysplasia 02-disease-root +Orphanet:3327 Thyrocerebrorenal syndrome 02-disease-root +Orphanet:3328 Absent tibia - polydactyly - arachnoid cyst 02-disease-root +Orphanet:3329 Tibial aplasia - ectrodactyly 01-disease-subtype +Orphanet:3331 Bowed tibiae - radial anomalies - osteopenia - fractures 01-disease-subtype +Orphanet:3332 Hypoplastic tibiae - postaxial polydactyly 01-disease-subtype +Orphanet:33355 Reticular dysgenesis 01-disease-subtype +Orphanet:33364 Trichothiodystrophy 01-disease-subtype +Orphanet:3337 Primary Fanconi syndrome 02-disease-root +Orphanet:334 Familial atrial fibrillation 02-disease-root +Orphanet:3341 Torticollis - keloids - cryptorchidism - renal dysplasia 02-disease-root +Orphanet:3342 Arterial tortuosity syndrome 01-disease-subtype +Orphanet:33445 Neuroectodermal melanolysosomal disease 01-disease-subtype +Orphanet:335 Congenital fibrinogen deficiency 01-disease-subtype +Orphanet:3351 Trichodental syndrome 01-disease-subtype +Orphanet:3352 Tricho-dento-osseous syndrome 01-disease-subtype +Orphanet:3353 Trichodermodysplasia - dental alterations 02-disease-root +Orphanet:3354 Tricho-oculo-dermo-vertebral syndrome 02-disease-root +Orphanet:3355 Trichoodontoonychial dysplasia 02-disease-root +Orphanet:3357 Autosomal dominant trichoodontoonychodysplasia-syndactyly 02-disease-root +Orphanet:33573 Gamma-glutamyl transpeptidase deficiency 01-disease-subtype +Orphanet:33574 Gamma-glutamylcysteine synthetase deficiency 01-disease-subtype +Orphanet:3361 Trichodysplasia - xeroderma 01-disease-subtype +Orphanet:3362 Trichomegaly - cataract - hereditary spherocytosis 02-disease-root +Orphanet:3363 Trichomegaly - retina pigmentary degeneration - dwarfism 02-disease-root +Orphanet:3365 Trigonocephaly - broad thumbs 02-disease-root +Orphanet:3366 Isolated trigonocephaly 01-disease-subtype +Orphanet:3368 Trigonocephaly - bifid nose - acral anomalies 02-disease-root +Orphanet:3369 Trigonocephaly - short stature - developmental delay 02-disease-root +Orphanet:337 Fibrodysplasia ossificans progressiva 02-disease-root +Orphanet:3375 Trisomy X 01-disease-subtype +Orphanet:3376 Triploidy 01-disease-subtype +Orphanet:3377 Trismus - pseudocamptodactyly 01-disease-subtype +Orphanet:3378 Trisomy 13 01-disease-subtype +Orphanet:3379 Distal trisomy 17q 01-disease-subtype +Orphanet:338 Familial multiple fibrofolliculoma 01-disease-subtype +Orphanet:3380 Trisomy 18 01-disease-subtype +Orphanet:3383 Humerus trochlea aplasia 02-disease-root +Orphanet:3387 Isolated anterior cervical hypertrichosis 01-disease-subtype +Orphanet:3388 Neural tube defect 03-disease-area +Orphanet:3389 Tuberculosis 03-disease-area +Orphanet:3390 Proximal tubulopathy - diabetes mellitus - cerebellar ataxia 01-disease-subtype +Orphanet:3402 Transient tyrosinemia of the newborn 01-disease-subtype +Orphanet:3405 Umbilical cord ulceration - intestinal atresia 01-disease-subtype +Orphanet:3406 Ulerythema ophryogenesis 01-disease-subtype +Orphanet:3409 Urban-Rogers-Meyer syndrome 02-disease-root +Orphanet:3411 Double uterus - hemivagina - renal agenesis 02-disease-root +Orphanet:34149 Autosomal dominant medullary cystic kidney disease with or without hyperuricemia 02-disease-root +Orphanet:3416 Hyperostosis corticalis generalisata 01-disease-subtype +Orphanet:3417 Van den Bosch syndrome 01-disease-subtype +Orphanet:342 Familial Mediterranean fever 01-disease-subtype +Orphanet:3421 Cerebroretinal vasculopathy 01-disease-subtype +Orphanet:3424 Velo-facial-skeletal syndrome 02-disease-root +Orphanet:3426 Double outlet right ventricle 01-disease-subtype +Orphanet:343 Hyperimmunoglobulinemia D with periodic fever 01-disease-subtype +Orphanet:3433 Microcephaly - brachydactyly - kyphoscoliosis 02-disease-root +Orphanet:3439 Von Voss-Cherstvoy syndrome 02-disease-root +Orphanet:34514 Autosomal recessive limb-girdle muscular dystrophy type 2G 01-disease-subtype +Orphanet:34515 Autosomal recessive limb-girdle muscular dystrophy type 2I 01-disease-subtype +Orphanet:34516 Autosomal dominant limb-girdle muscular dystrophy type 1D 01-disease-subtype +Orphanet:34517 Autosomal dominant limb-girdle muscular dystrophy type 1E 01-disease-subtype +Orphanet:34520 Congenital muscular dystrophy with integrin alpha-7 deficiency 01-disease-subtype +Orphanet:34526 Familial primary hypomagnesemia 01-disease-subtype +Orphanet:34527 Familial primary hypomagnesemia with normocalciuria and normocalcemia 01-disease-subtype +Orphanet:34528 Autosomal dominant primary hypomagnesemia with hypocalciuria 01-disease-subtype +Orphanet:3453 Autoimmune polyendocrinopathy type 1 02-disease-root +Orphanet:34533 Corneal dystrophy 03-disease-area +Orphanet:3454 Intellectual disability-developmental delay-contractures syndrome 01-disease-subtype +Orphanet:34592 Immunodeficiency by defective expression of HLA class 1 02-disease-root +Orphanet:3460 Torg-Winchester syndrome 01-disease-subtype +Orphanet:3467 Hereditary xanthinuria 01-disease-subtype +Orphanet:348 Fructose-1,6-bisphosphatase deficiency 01-disease-subtype +Orphanet:349 Fucosidosis 01-disease-subtype +Orphanet:35 Propionic acidemia 01-disease-subtype +Orphanet:35093 Isolated scaphocephaly 01-disease-subtype +Orphanet:35098 Isolated plagiocephaly 01-disease-subtype +Orphanet:35099 Isolated brachycephaly 01-disease-subtype +Orphanet:351 Galactosialidosis 01-disease-subtype +Orphanet:35107 Desmosterolosis 01-disease-subtype +Orphanet:35120 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency 01-disease-subtype +Orphanet:35121 Acid phosphatase deficiency 02-disease-root +Orphanet:35122 Congenital sucrase-isomaltase deficiency 01-disease-subtype +Orphanet:35125 Epidermal nevus syndrome 02-disease-root +Orphanet:35173 X-linked dominant chondrodysplasia punctata 01-disease-subtype +Orphanet:352 Galactosemia 01-disease-subtype +Orphanet:352298 Genetic muscular channelopathy 02-disease-root +Orphanet:352301 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis 02-disease-root +Orphanet:352306 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement 01-disease-subtype +Orphanet:352309 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement 01-disease-subtype +Orphanet:352312 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement 01-disease-subtype +Orphanet:352328 MEGDEL syndrome 01-disease-subtype +Orphanet:352333 Congenital ichthyosis - intellectual disability - spastic quadriplegia 01-disease-subtype +Orphanet:352403 Spectrin-associated autosomal recessive cerebellar ataxia 01-disease-subtype +Orphanet:352447 Progressive external ophthalmoplegia - myopathy - emaciation 02-disease-root +Orphanet:352456 Mitochondrial DNA maintenance syndrome 03-disease-area +Orphanet:352470 Mitochondrial DNA deletion syndrome with progressive myopathy 01-disease-subtype +Orphanet:352479 Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency 01-disease-subtype +Orphanet:352487 Digital anomalies - intellectual disability - short stature 02-disease-root +Orphanet:352490 Autism spectrum disorder due to AUTS2 deficiency 02-disease-root +Orphanet:352530 Intellectual disability - obesity - brain malformations - facial dysmorphism 01-disease-subtype +Orphanet:352563 Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency 01-disease-subtype +Orphanet:352577 Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency 02-disease-root +Orphanet:352582 Familial infantile myoclonic epilepsy 01-disease-subtype +Orphanet:352587 Focal epilepsy - intellectual disability - cerebro-cerebellar malformation 02-disease-root +Orphanet:352596 Progressive myoclonic epilepsy with dystonia 01-disease-subtype +Orphanet:352636 Phalangeal microgeodic syndrome 01-disease-subtype +Orphanet:352641 Autosomal recessive cerebellar ataxia with late-onset spasticity 01-disease-subtype +Orphanet:352649 Brain dopamine-serotonin vesicular transport disease 01-disease-subtype +Orphanet:352654 Early-onset progressive neurodegeneration - blindness - ataxia - spasticity 02-disease-root +Orphanet:352657 Hereditary benign intraepithelial dyskeratosis 01-disease-subtype +Orphanet:352662 Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis 01-disease-subtype +Orphanet:352670 Autosomal dominant intermediate Charcot-Marie-Tooth disease type F 01-disease-subtype +Orphanet:352675 X-linked Charcot-Marie-Tooth disease type 6 01-disease-subtype +Orphanet:352682 Cobblestone lissencephaly without muscular or ocular involvement 01-disease-subtype +Orphanet:352687 Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies 01-disease-subtype +Orphanet:352709 CLN13 disease 01-disease-subtype +Orphanet:352712 Facial dysmorphism - immunodeficiency - livedo - short stature 01-disease-subtype +Orphanet:352718 Progressive retinal dystrophy due to retinol transport defect 01-disease-subtype +Orphanet:352723 Attenuated Chédiak-Higashi syndrome 02-disease-root +Orphanet:352728 Disorder of melanin metabolism 02-disease-root +Orphanet:352731 Oculocutaneous albinism type 1 01-disease-subtype +Orphanet:352734 Minimal pigment oculocutaneous albinism type 1 01-disease-subtype +Orphanet:352737 Temperature-sensitive oculocutaneous albinism type 1 01-disease-subtype +Orphanet:352740 Ocular albinism with congenital sensorineural deafness 01-disease-subtype +Orphanet:352745 Oculocutaneous albinism type 7 01-disease-subtype +Orphanet:353 Autosomal recessive limb-girdle muscular dystrophy type 2C 01-disease-subtype +Orphanet:353217 Epileptic encephalopathy with global cerebral demyelination 01-disease-subtype +Orphanet:353220 Familial primary localized cutaneous amyloidosis 02-disease-root +Orphanet:353308 Pyruvate carboxylase deficiency, infantile form 01-disease-subtype +Orphanet:353314 Pyruvate carboxylase deficiency, severe neonatal type 01-disease-subtype +Orphanet:353320 Pyruvate carboxylase deficiency, benign type 01-disease-subtype +Orphanet:353327 Congenital myasthenic syndromes with glycosylation defect 01-disease-subtype +Orphanet:35612 Nanophthalmia 01-disease-subtype +Orphanet:35656 Coenzyme Q10 deficiency 02-disease-root +Orphanet:35664 ALDH18A1-related De Barsy syndrome 01-disease-subtype +Orphanet:35689 Primary lateral sclerosis 02-disease-root +Orphanet:35696 Mitochondrial disorder due to a defect in mitochondrial protein synthesis 02-disease-root +Orphanet:35698 Mitochondrial DNA depletion syndrome 01-disease-subtype +Orphanet:356996 Intellectual disability - hypotonia - spasticity - sleep disorder 02-disease-root +Orphanet:357001 19p13.13 microdeletion syndrome 01-disease-subtype +Orphanet:357008 Atypical hemolytic-uremic syndrome with DGKE deficiency 01-disease-subtype +Orphanet:357027 Familial retinoblastoma 01-disease-subtype +Orphanet:357034 Unilateral retinoblastoma 01-disease-subtype +Orphanet:35704 Arginine:glycine amidinotransferase deficiency 02-disease-root +Orphanet:357043 Amyotrophic lateral sclerosis type 4 01-disease-subtype +Orphanet:35705 Neurometabolic disorder due to serine deficiency 01-disease-subtype +Orphanet:357058 Autosomal recessive cutis laxa type 2A 01-disease-subtype +Orphanet:35706 Glutaric acidemia type 3 01-disease-subtype +Orphanet:357064 Autosomal recessive cutis laxa type 2B 01-disease-subtype +Orphanet:357074 Autosomal recessive cutis laxa type 2, classic type 01-disease-subtype +Orphanet:35708 Aromatic L-amino acid decarboxylase deficiency 01-disease-subtype +Orphanet:35710 Glucose-galactose malabsorption 01-disease-subtype +Orphanet:357158 Mandibulofacial dysostosis - macroblepharon - macrostomia 01-disease-subtype +Orphanet:357175 Short ulna - dysmorphism - hypotonia - intellectual disability 02-disease-root +Orphanet:357225 Primary non-essential cutis verticis gyrata 02-disease-root +Orphanet:357237 Severe combined immunodeficiency due to CARD11 deficiency 01-disease-subtype +Orphanet:357329 Cryptosporidiosis - chronic cholangitis - liver disease 02-disease-root +Orphanet:357332 Syndactyly - camptodactyly and clinodactyly of fifth fingers - bifid toes 02-disease-root +Orphanet:35737 Morning glory syndrome 01-disease-subtype +Orphanet:357506 Genetic non-syndromic renal or urinary tract malformation 03-disease-area +Orphanet:35858 Gräsbeck-Imerslund disease 01-disease-subtype +Orphanet:35878 Hyperinsulinism-hyperammonemia syndrome 01-disease-subtype +Orphanet:359 Hereditary glaucoma 03-disease-area +Orphanet:35909 Combined deficiency of factor V and factor VIII 01-disease-subtype +Orphanet:35981 Polymicrogyria 02-disease-root +Orphanet:36 Acrocallosal syndrome 01-disease-subtype +Orphanet:361 Familial glucocorticoid deficiency 02-disease-root +Orphanet:363203 Ring chromosome 02-disease-root +Orphanet:363294 Genetic syndromic Pierre Robin syndrome 03-disease-area +Orphanet:363300 Genetic intractable diarrhea of infancy 03-disease-area +Orphanet:363306 Genetic intestinal disease due to fat malabsorption 02-disease-root +Orphanet:363314 Genetic intestinal polyposis 02-disease-root +Orphanet:363396 High myopia-sensorineural deafness syndrome 02-disease-root +Orphanet:363400 Severe neurodegenerative syndrome with lipodystrophy 01-disease-subtype +Orphanet:363409 Fetal akinesia-cerebral and retinal hemorrhage syndrome 01-disease-subtype +Orphanet:363412 Hypomyelination with brain stem and spinal cord involvement and leg spasticity 02-disease-root +Orphanet:363417 Temtamy preaxial brachydactyly syndrome 01-disease-subtype +Orphanet:363424 Hypotonia-cerebral atrophy-hyperglycinemia syndrome 01-disease-subtype +Orphanet:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome 01-disease-subtype +Orphanet:363432 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency 01-disease-subtype +Orphanet:363447 Autosomal dominant childhood-onset proximal spinal muscular atrophy 01-disease-subtype +Orphanet:363454 Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures 01-disease-subtype +Orphanet:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome 01-disease-subtype +Orphanet:363528 Intellectual disability-strabismus syndrome 01-disease-subtype +Orphanet:363534 Mitochondrial DNA depletion syndrome, hepatocerebrorenal form 01-disease-subtype +Orphanet:363540 Leukoencephalopathy with mild cerebellar ataxia and white matter edema 02-disease-root +Orphanet:363543 Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency 01-disease-subtype +Orphanet:36355 P2Y12 defect 01-disease-subtype +Orphanet:363611 Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome 02-disease-root +Orphanet:363623 Autosomal recessive limb-girdle muscular dystrophy type 2T 01-disease-subtype +Orphanet:363649 Mandibular hypoplasia-deafness-progeroid syndrome 02-disease-root +Orphanet:363665 Acroosteolysis-keloid-like lesions-premature aging syndrome 02-disease-root +Orphanet:36367 Distal monosomy 1q 01-disease-subtype +Orphanet:363677 Childhood-onset autosomal recessive myopathy with external ophthalmoplegia 01-disease-subtype +Orphanet:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 02-disease-root +Orphanet:363694 Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome 01-disease-subtype +Orphanet:363700 Neurofibromatosis type 1 due to NF1mutation or intragenic deletion 01-disease-subtype +Orphanet:363705 Craniofaciofrontodigital syndrome 01-disease-subtype +Orphanet:363710 Spinocerebellar ataxia type 37 01-disease-subtype +Orphanet:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome 01-disease-subtype +Orphanet:36382 Familial cervical artery dissections 02-disease-root +Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 01-disease-subtype +Orphanet:36387 Generalized epilepsy with febrile seizures-plus 01-disease-subtype +Orphanet:363958 17q21.31 microdeletion syndrome 01-disease-subtype +Orphanet:363965 Koolen-De Vries syndrome due to a point mutation 01-disease-subtype +Orphanet:363969 Autosomal recessive cerebral atrophy 02-disease-root +Orphanet:363972 Noonan syndrome-like disorder with juvenile myelomonocytic leukemia 01-disease-subtype +Orphanet:363989 Familial benign flecked retina 02-disease-root +Orphanet:363992 Ichthyosis-short stature-brachydactyly-microspherophakia syndrome 01-disease-subtype +Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency 02-disease-root +Orphanet:364055 Severe early-childhood-onset retinal dystrophy 02-disease-root +Orphanet:364063 Infantile epileptic-dyskinetic encephalopathy 01-disease-subtype +Orphanet:364198 Bipartite talus 02-disease-root +Orphanet:364526 Primary bone dysplasia 03-disease-area +Orphanet:364531 Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments 02-disease-root +Orphanet:364536 Primary bone dysplasia with micromelia 02-disease-root +Orphanet:364571 Dysostosis with limb and face anomalies as a major feature 02-disease-root +Orphanet:364574 Acrofacial dysostosis 01-disease-subtype +Orphanet:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome 01-disease-subtype +Orphanet:364803 Rare bone disease related to a common gene or pathway defect 03-disease-area +Orphanet:364817 Aggrecan-related bone disorder 02-disease-root +Orphanet:365 Glycogen storage disease due to acid maltase deficiency 02-disease-root +Orphanet:365563 Primary short bowel syndrome 02-disease-root +Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency 01-disease-subtype +Orphanet:36899 Myoclonus-dystonia syndrome 01-disease-subtype +Orphanet:369837 Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome 01-disease-subtype +Orphanet:369840 Autosomal recessive limb-girdle muscular dystrophy type 2S 01-disease-subtype +Orphanet:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome 02-disease-root +Orphanet:369852 Recurrent infections-myelofibrosis-nephromegaly syndrome 01-disease-subtype +Orphanet:369861 Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome 01-disease-subtype +Orphanet:369867 Autosomal recessive intermediate Charcot-Marie-Tooth disease type C 01-disease-subtype +Orphanet:369873 Obesity due to SIM1 deficiency 01-disease-subtype +Orphanet:369886 Homozygous 2p21 microdeletion syndrome 01-disease-subtype +Orphanet:369891 Cardiac anomalies-developmental delay-facial dysmorphism syndrome 01-disease-subtype +Orphanet:369894 Early infantile epileptic encephalopathy without suppression burst 01-disease-subtype +Orphanet:369897 Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies 01-disease-subtype +Orphanet:369902 Orofaciodigital syndrome type 14 01-disease-subtype +Orphanet:369913 Combined oxidative phosphorylation defect type 17 01-disease-subtype +Orphanet:369920 Pontocerebellar hypoplasia type 9 01-disease-subtype +Orphanet:369929 Aldosterone-producing adenoma with seizures and neurological abnormalities 01-disease-subtype +Orphanet:369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome 01-disease-subtype +Orphanet:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome 01-disease-subtype +Orphanet:369955 Methylmalonic acidemia with homocystinuria, type cblJ 01-disease-subtype +Orphanet:369962 Methylmalonic acidemia with homocystinuria, type cblX 01-disease-subtype +Orphanet:369970 Microcornea-myopic chorioretinal atrophy-telecanthus syndrome 02-disease-root +Orphanet:369979 Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome 02-disease-root +Orphanet:369992 Severe dermatitis-multiple allergies-metabolic wasting syndrome 02-disease-root +Orphanet:369999 Diffuse palmoplantar keratoderma with painful fissures 01-disease-subtype +Orphanet:37 Acrodermatitis enteropathica 01-disease-subtype +Orphanet:370 Glycogen storage disease due to phosphorylase kinase deficiency 02-disease-root +Orphanet:370002 Focal palmoplantar keratoderma with joint keratoses 01-disease-subtype +Orphanet:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome 02-disease-root +Orphanet:370015 Spondyloepimetaphyseal dysplasia, Isidor type 02-disease-root +Orphanet:370019 Spondylometaphyseal dysplasia, Czarny-Ratajczak type 01-disease-subtype +Orphanet:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome 01-disease-subtype +Orphanet:370034 Familial syringomyelia 01-disease-subtype +Orphanet:370079 Proximal 16p11.2 microduplication syndrome 01-disease-subtype +Orphanet:370088 Acute infantile liver failure-multisystemic involvement syndrome 01-disease-subtype +Orphanet:370091 Oculocutaneous albinism type 5 01-disease-subtype +Orphanet:370097 Oculocutaneous albinism type 6 01-disease-subtype +Orphanet:370106 Rare disorder with dystonia and other neurologic or systemic manifestation 02-disease-root +Orphanet:370109 Ataxia-telangiectasia variant 01-disease-subtype +Orphanet:370114 Combined cervical dystonia 01-disease-subtype +Orphanet:370131 White platelet syndrome 01-disease-subtype +Orphanet:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome 02-disease-root +Orphanet:370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome 01-disease-subtype +Orphanet:370953 Congenital muscular dystrophy due to dystroglycanopathy 01-disease-subtype +Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement 01-disease-subtype +Orphanet:370968 Congenital muscular dystrophy with intellectual disability 01-disease-subtype +Orphanet:370980 Congenital muscular dystrophy without intellectual disability 01-disease-subtype +Orphanet:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy 01-disease-subtype +Orphanet:371007 Congenital muscular dystrophy with hyperlaxity 01-disease-subtype +Orphanet:371024 Qualitative or quantitative defects of alpha-dystroglycan 02-disease-root +Orphanet:371040 Primary qualitative or quantitative defects of alpha-dystroglycan 01-disease-subtype +Orphanet:371047 Congenital disorder of glycosylation with neurological involvement 03-disease-area +Orphanet:371054 X-linked congenital disorder of glycosylation with intellectual disability as a major feature 02-disease-root +Orphanet:371064 Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature 02-disease-root +Orphanet:371071 Congenital disorder of glycosylation with epilepsy as a major feature 02-disease-root +Orphanet:371157 Congenital disorder of glycosylation with hepatic involvement 02-disease-root +Orphanet:371176 Congenital disorder of glycosylation with dilated cardiomyopathy 01-disease-subtype +Orphanet:371183 Congenital disorder of glycosylation with cardiac malformation as a major feature 01-disease-subtype +Orphanet:371188 Congenital disorder of glycosylation with intestinal involvement 01-disease-subtype +Orphanet:371195 Congenital disorder of glycosylation-related bone disorder 02-disease-root +Orphanet:371200 Congenital disorder of glycosylation with skin involvement 02-disease-root +Orphanet:371207 Congenital disorder of glycosylation with nephropathy as a major feature 02-disease-root +Orphanet:371212 Congenital disorder of glycosylation with deafness as a major feature 02-disease-root +Orphanet:371235 Congenital disorder of glycosylation with developmental anomaly 03-disease-area +Orphanet:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum 01-disease-subtype +Orphanet:371433 Genetic periodic paralysis 02-disease-root +Orphanet:371436 Genetic neurovascular malformation 03-disease-area +Orphanet:371439 Genetic cerebrovascular dementia 03-disease-area +Orphanet:371445 Genetic syndromic esophageal malformation 02-disease-root +Orphanet:37553 Cardiodysrhythmic potassium-sensitive periodic paralysis 01-disease-subtype +Orphanet:37612 Episodic ataxia type 1 02-disease-root +Orphanet:376724 Generalized isolated dystonia 01-disease-subtype +Orphanet:379 Chronic granulomatous disease 02-disease-root +Orphanet:381 Griscelli disease 02-disease-root +Orphanet:382 Guanidinoacetate methyltransferase deficiency 02-disease-root +Orphanet:383 X-linked mixed deafness with perilymphatic gusher 01-disease-subtype +Orphanet:384 Palmoplantar keratoderma-sclerodactyly syndrome 01-disease-subtype +Orphanet:385 Neurodegeneration with brain iron accumulation 03-disease-area +Orphanet:38874 Dihydropyrimidinuria 01-disease-subtype +Orphanet:391307 Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome 02-disease-root +Orphanet:391311 Susceptibility to viral and mycobacterial infections 02-disease-root +Orphanet:391316 Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression 01-disease-subtype +Orphanet:391343 Fatal post-viral neurodegenerative disorder 02-disease-root +Orphanet:391348 Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome 01-disease-subtype +Orphanet:391351 SURF1-related Charcot-Marie-Tooth disease type 4 01-disease-subtype +Orphanet:391366 Growth retardation-mild developmental delay-chronic hepatitis syndrome 01-disease-subtype +Orphanet:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome 02-disease-root +Orphanet:391376 Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome 01-disease-subtype +Orphanet:391381 Disorder of asparagine metabolism 02-disease-root +Orphanet:391384 Familial episodic pain syndrome 02-disease-root +Orphanet:391389 Familial episodic pain syndrome with predominantly upper body involvement 01-disease-subtype +Orphanet:391392 Familial episodic pain syndrome with predominantly lower limb involvement 01-disease-subtype +Orphanet:391397 Hereditary sensory and autonomic neuropathy type 7 01-disease-subtype +Orphanet:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome 01-disease-subtype +Orphanet:391411 Atypical juvenile parkinsonism 01-disease-subtype +Orphanet:391417 HSD10 disease 01-disease-subtype +Orphanet:391474 Frontorhiny 01-disease-subtype +Orphanet:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome 02-disease-root +Orphanet:391665 Homozygous familial hypercholesterolemia 01-disease-subtype +Orphanet:391677 Short stature-optic atrophy-Pelger-Huët anomaly syndrome 01-disease-subtype +Orphanet:391711 Persistent combined dystonia 01-disease-subtype +Orphanet:391799 Rare genetic dystonia 03-disease-area +Orphanet:394 Classical homocystinuria 01-disease-subtype +Orphanet:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency 01-disease-subtype +Orphanet:397590 Silver-Russell syndrome due to a point mutation 01-disease-subtype +Orphanet:397593 Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency 01-disease-subtype +Orphanet:397596 Activated PIK3-delta syndrome 02-disease-root +Orphanet:397606 Chronic diarrhea with hereditary sensory and autonomic neuropathy 01-disease-subtype +Orphanet:397612 Macrocephaly-developmental delay syndrome 02-disease-root +Orphanet:397615 Obesity due to CEP19 deficiency 01-disease-subtype +Orphanet:397618 Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome 01-disease-subtype +Orphanet:397623 Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome 01-disease-subtype +Orphanet:397685 Familial hyperprolactinemia 02-disease-root +Orphanet:397692 Hereditary isolated aplastic anemia 02-disease-root +Orphanet:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome 01-disease-subtype +Orphanet:397725 COASY protein-associated neurodegeneration 02-disease-root +Orphanet:397735 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation 01-disease-subtype +Orphanet:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome 01-disease-subtype +Orphanet:397750 Periodic paralysis with later-onset distal motor neuropathy 01-disease-subtype +Orphanet:397755 Periodic paralysis with transient compartment-like syndrome 01-disease-subtype +Orphanet:397758 Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies 02-disease-root +Orphanet:397787 Severe combined immunodeficiency due to IKK2 deficiency 01-disease-subtype +Orphanet:397922 Ferro-cerebro-cutaneous syndrome 01-disease-subtype +Orphanet:397927 Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome 02-disease-root +Orphanet:397933 Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome 02-disease-root +Orphanet:397937 Polyglucosan body myopathy 01-disease-subtype +Orphanet:397951 Microcephaly-thin corpus callosum-intellectual disability syndrome 02-disease-root +Orphanet:397964 Combined immunodeficiency due to MALT1 deficiency 02-disease-root +Orphanet:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome 01-disease-subtype +Orphanet:398069 Prader-Willi syndrome due to point mutation 01-disease-subtype +Orphanet:398079 Prader-Willi-like syndrome due to point mutation 01-disease-subtype +Orphanet:398088 Hereditary cryohydrocytosis with normal stomatin 02-disease-root +Orphanet:398156 Oculoauriculofrontonasal syndrome 01-disease-subtype +Orphanet:398166 Focal facial dermal dysplasia 02-disease-root +Orphanet:398173 Focal facial dermal dysplasia type II 01-disease-subtype +Orphanet:398189 Focal facial dermal dysplasia type IV 01-disease-subtype +Orphanet:398934 Malignant epithelial tumor of ovary 03-disease-area +Orphanet:399058 Alpha-B crystallin-related late-onset distal myopathy 01-disease-subtype +Orphanet:399081 KLHL9-related childhood-onset distal myopathy 01-disease-subtype +Orphanet:399096 Distal anoctaminopathy 01-disease-subtype +Orphanet:399103 Nebulin-related early-onset distal myopathy 01-disease-subtype +Orphanet:399185 Rare hereditary disease with avascular necrosis 01-disease-subtype +Orphanet:399380 Osteonecrosis of genetic origin 03-disease-area +Orphanet:399388 Avascular necrosis of genetic origin 02-disease-root +Orphanet:399391 Osteochondrosis of genetic origin 02-disease-root +Orphanet:399685 Rare male infertility due to testicular endocrine disorder 02-disease-root +Orphanet:399764 Male infertility due to gonadal dysgenesis or sperm disorder 02-disease-root +Orphanet:399771 Male infertility due to sperm disorder 01-disease-subtype +Orphanet:399775 Male infertility with spermatogenesis disorder 01-disease-subtype +Orphanet:399786 Male infertility with spermatogenesis disorder due to single gene mutation 01-disease-subtype +Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation 01-disease-subtype +Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation 01-disease-subtype +Orphanet:399813 Male infertility due to sperm motility disorder 01-disease-subtype +Orphanet:399839 Rare female infertility due to a congenital hypogonadotropic hypogonadism 02-disease-root +Orphanet:399846 Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism 01-disease-subtype +Orphanet:399877 Female infertility due to gonadal dysgenesis 02-disease-root +Orphanet:399980 Rare genetic male infertility 03-disease-area +Orphanet:399983 Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin 03-disease-area +Orphanet:399994 Rare male infertility due to adrenal disorder of genetic origin 02-disease-root +Orphanet:399998 Male infertility due to obstructive azoospermia of genetic origin 02-disease-root +Orphanet:40 Acromesomelic dysplasia, Maroteaux type 01-disease-subtype +Orphanet:400003 Rare genetic disorder with obstructive azoospermia 01-disease-subtype +Orphanet:400008 Rare genetic female infertility 03-disease-area +Orphanet:400011 Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin 03-disease-area +Orphanet:400018 Rare female infertility due to adrenal disorder of genetic origin 02-disease-root +Orphanet:400022 Rare female infertility due to an anomaly of ovarian function of genetic origin 02-disease-root +Orphanet:400025 Female infertility due to an implantation defect of genetic origin 02-disease-root +Orphanet:401764 Pancytopenia-developmental delay syndrome 02-disease-root +Orphanet:401768 Proximal myopathy with extrapyramidal signs 02-disease-root +Orphanet:401777 Optic atrophy-intellectual disability syndrome 01-disease-subtype +Orphanet:401780 Autosomal recessive spastic paraplegia type 61 01-disease-subtype +Orphanet:401785 Autosomal recessive spastic paraplegia type 62 01-disease-subtype +Orphanet:401795 Autosomal recessive spastic paraplegia type 59 01-disease-subtype +Orphanet:401800 Autosomal recessive spastic paraplegia type 60 01-disease-subtype +Orphanet:401805 Autosomal recessive spastic paraplegia type 63 01-disease-subtype +Orphanet:401810 Autosomal recessive spastic paraplegia type 64 01-disease-subtype +Orphanet:401815 Autosomal recessive spastic paraplegia type 66 01-disease-subtype +Orphanet:401820 Autosomal recessive spastic paraplegia type 67 01-disease-subtype +Orphanet:401825 Autosomal recessive spastic paraplegia type 68 01-disease-subtype +Orphanet:401830 Autosomal recessive spastic paraplegia type 69 01-disease-subtype +Orphanet:401835 Autosomal recessive spastic paraplegia type 70 01-disease-subtype +Orphanet:401840 Autosomal recessive spastic paraplegia type 71 01-disease-subtype +Orphanet:401849 Autosomal recessive spastic paraplegia type 72 01-disease-subtype +Orphanet:401854 Lipoic acid biosynthesis defect 03-disease-area +Orphanet:401859 Lipoic acid synthetase deficiency 02-disease-root +Orphanet:401862 Lipoyl transferase 1 deficiency 02-disease-root +Orphanet:401866 Spasticity-ataxia-gait anomalies syndrome 01-disease-subtype +Orphanet:401869 Fatal multiple mitochondrial dysfunction syndrome type 1 01-disease-subtype +Orphanet:401874 Fatal multiple mitochondrial dysfunction syndrome type 2 01-disease-subtype +Orphanet:401942 Familial median cleft of the upper and lower lips 02-disease-root +Orphanet:401948 Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency 01-disease-subtype +Orphanet:401953 Episodic ataxia with slurred speech 02-disease-root +Orphanet:401959 Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome 01-disease-subtype +Orphanet:401979 Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type 01-disease-subtype +Orphanet:401993 Cold-induced sweating syndrome-hyperthermia spectrum 02-disease-root +Orphanet:401996 Karyomegalic interstitial nephritis 02-disease-root +Orphanet:402003 Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering 01-disease-subtype +Orphanet:402041 Autosomal recessive distal renal tubular acidosis 01-disease-subtype +Orphanet:402075 Familial bicuspid aortic valve 01-disease-subtype +Orphanet:402364 Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly 01-disease-subtype +Orphanet:404 Familial hyperaldosteronism type II 02-disease-root +Orphanet:404437 Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome 01-disease-subtype +Orphanet:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 02-disease-root +Orphanet:404443 Tall stature-intellectual disability-facial dysmorphism syndrome 02-disease-root +Orphanet:404448 ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder 02-disease-root +Orphanet:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome 02-disease-root +Orphanet:404463 Multisystemic smooth muscle dysfunction syndrome 01-disease-subtype +Orphanet:404466 Female infertility due to zona pellucida defect 01-disease-subtype +Orphanet:404469 Female infertility due to fertilization defect 02-disease-root +Orphanet:404473 Severe intellectual disability-progressive spastic diplegia syndrome 02-disease-root +Orphanet:404476 Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome 02-disease-root +Orphanet:404481 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome 01-disease-subtype +Orphanet:404493 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency 01-disease-subtype +Orphanet:404521 Spinal muscular atrophy with respiratory distress type 2 01-disease-subtype +Orphanet:404560 Familial atypical multiple mole melanoma syndrome 01-disease-subtype +Orphanet:404568 Dysostosis of genetic origin 03-disease-area +Orphanet:404571 Dysostosis of genetic origin with limb anomaly as a major feature 03-disease-area +Orphanet:404574 Genetic syndrome with limb reduction defects 03-disease-area +Orphanet:404577 Genetic syndrome with limb malformations as a major feature 03-disease-area +Orphanet:404584 Rare genetic bone development disorder 03-disease-area +Orphanet:405 Familial hypocalciuric hypercalcemia 01-disease-subtype +Orphanet:407 Glycine encephalopathy 01-disease-subtype +Orphanet:408 Isolated glycerol kinase deficiency 01-disease-subtype +Orphanet:409 Hyperkeratosis lenticularis perstans 02-disease-root +Orphanet:41 Dyschromatosis symmetrica hereditaria 01-disease-subtype +Orphanet:411 Hyperlipoproteinemia type 1 01-disease-subtype +Orphanet:411602 Hereditary late-onset Parkinson disease 01-disease-subtype +Orphanet:412 Hyperlipoproteinemia type 3 01-disease-subtype +Orphanet:412206 Primary failure of tooth eruption 01-disease-subtype +Orphanet:413 Hyperlipoproteinemia type 4 01-disease-subtype +Orphanet:414 Gyrate atrophy of choroid and retina 01-disease-subtype +Orphanet:415 Hyperornithinemia-hyperammonemia-homocitrullinuria 01-disease-subtype +Orphanet:416 Primary hyperoxaluria 01-disease-subtype +Orphanet:417 Neonatal severe primary hyperparathyroidism 01-disease-subtype +Orphanet:41751 Bietti crystalline dystrophy 02-disease-root +Orphanet:418 Congenital adrenal hyperplasia 02-disease-root +Orphanet:419 Hyperprolinemia type 1 01-disease-subtype +Orphanet:42 Medium chain acyl-CoA dehydrogenase deficiency 01-disease-subtype +Orphanet:42062 Iminoglycinuria 01-disease-subtype +Orphanet:422 Idiopathic and/or familial pulmonary arterial hypertension 01-disease-subtype +Orphanet:423 Malignant hyperthermia 01-disease-subtype +Orphanet:424 Familial hyperthyroidism due to mutations in TSH receptor 01-disease-subtype +Orphanet:425 Apolipoprotein A-I deficiency 01-disease-subtype +Orphanet:427 Familial hypoaldosteronism 02-disease-root +Orphanet:42738 Severe congenital neutropenia 01-disease-subtype +Orphanet:428 Autosomal dominant hypocalcemia 01-disease-subtype +Orphanet:429 Hypochondroplasia 01-disease-subtype +Orphanet:43 X-linked adrenoleukodystrophy 01-disease-subtype +Orphanet:43115 Hereditary myopathy with lactic acidosis due to ISCU deficiency 01-disease-subtype +Orphanet:436 Hypophosphatasia 01-disease-subtype +Orphanet:437 Hypophosphatemic rickets 01-disease-subtype +Orphanet:442 Congenital hypothyroidism 03-disease-area +Orphanet:446 Neonatal hemochromatosis 01-disease-subtype +Orphanet:448 Hemophilia 01-disease-subtype +Orphanet:44890 Gastrointestinal stromal tumor 02-disease-root +Orphanet:45 Adenosine monophosphate deaminase deficiency 01-disease-subtype +Orphanet:45358 Congenital fibrosis of extraocular muscles 01-disease-subtype +Orphanet:455 Superficial epidermolytic ichthyosis 02-disease-root +Orphanet:457 Harlequin ichthyosis 01-disease-subtype +Orphanet:46 Adenylosuccinate lyase deficiency 01-disease-subtype +Orphanet:46059 Lathosterolosis 01-disease-subtype +Orphanet:461 Recessive X-linked ichthyosis 01-disease-subtype +Orphanet:46348 Paroxysmal extreme pain disorder 02-disease-root +Orphanet:464 Incontinentia pigmenti 01-disease-subtype +Orphanet:465 Congenital plasminogen activator inhibitor type 1 deficiency 01-disease-subtype +Orphanet:46532 Hereditary persistence of fetal hemoglobin - beta-thalassemia 01-disease-subtype +Orphanet:466 Fatal familial insomnia 02-disease-root +Orphanet:467 Non-acquired combined pituitary hormone deficiency 02-disease-root +Orphanet:46724 Cerebral arteriovenous malformation 02-disease-root +Orphanet:469 Hereditary fructose intolerance 01-disease-subtype +Orphanet:47 X-linked agammaglobulinemia 01-disease-subtype +Orphanet:470 Lysinuric protein intolerance 01-disease-subtype +Orphanet:47045 Familial cold urticaria 01-disease-subtype +Orphanet:47159 Proximal renal tubular acidosis 02-disease-root +Orphanet:48 Congenital bilateral absence of vas deferens 01-disease-subtype +Orphanet:483 Congenital high-molecular-weight kininogen deficiency 01-disease-subtype +Orphanet:48431 Congenital cataracts - facial dysmorphism - neuropathy 01-disease-subtype +Orphanet:48471 Lissencephaly 02-disease-root +Orphanet:486 Autosomal dominant severe congenital neutropenia 01-disease-subtype +Orphanet:48652 Monosomy 22q13 01-disease-subtype +Orphanet:488 Urachal cyst 02-disease-root +Orphanet:48818 Aceruloplasminemia 01-disease-subtype +Orphanet:49042 Dentinogenesis imperfecta 02-disease-root +Orphanet:493 Familial keratoacanthoma 01-disease-subtype +Orphanet:49382 Achromatopsia 01-disease-subtype +Orphanet:494 Keratoderma hereditarium mutilans 01-disease-subtype +Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma 01-disease-subtype +Orphanet:498 Keratosis pilaris atrophicans 02-disease-root +Orphanet:49827 Thiamine-responsive megaloblastic anemia syndrome 01-disease-subtype +Orphanet:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 01-disease-subtype +Orphanet:502 Langer-Giedion syndrome 01-disease-subtype +Orphanet:503 Autosomal dominant Larsen syndrome 01-disease-subtype +Orphanet:508 Leprechaunism 01-disease-subtype +Orphanet:50809 Talo-patello-scaphoid osteolysis 01-disease-subtype +Orphanet:50810 Microlissencephaly - micromelia 02-disease-root +Orphanet:50811 Lipodystrophy - intellectual disability - deafness 01-disease-subtype +Orphanet:50814 Craniolenticulosutural dysplasia 02-disease-root +Orphanet:50815 Branchiogenic deafness syndrome 02-disease-root +Orphanet:50943 Keratolytic winter erythema 02-disease-root +Orphanet:50944 Schöpf-Schulz-Passarge syndrome 01-disease-subtype +Orphanet:50945 Blomstrand lethal chondrodysplasia 01-disease-subtype +Orphanet:51 Aicardi-Goutières syndrome 02-disease-root +Orphanet:51083 Familial short QT syndrome 02-disease-root +Orphanet:51084 Torsade-de-pointes syndrome with short coupling interval 02-disease-root +Orphanet:511 Maple syrup urine disease 01-disease-subtype +Orphanet:51188 Ethylmalonic encephalopathy 01-disease-subtype +Orphanet:512 Metachromatic leukodystrophy 02-disease-root +Orphanet:51208 Formiminoglutamic aciduria 01-disease-subtype +Orphanet:51577 Cobblestone lissencephaly 01-disease-subtype +Orphanet:51608 Generalized arterial calcification of infancy 02-disease-root +Orphanet:51636 WHIM syndrome 01-disease-subtype +Orphanet:52054 Craniosynostosis - intracranial calcifications 02-disease-root +Orphanet:52055 Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia 01-disease-subtype +Orphanet:52056 Ulnar/fibula ray defect - brachydactyly 02-disease-root +Orphanet:523 Hereditary leiomyomatosis and renal cell cancer 01-disease-subtype +Orphanet:52368 Mohr-Tranebjaerg syndrome 01-disease-subtype +Orphanet:52427 Retinitis punctata albescens 02-disease-root +Orphanet:52429 Branchio-otic syndrome 02-disease-root +Orphanet:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia 01-disease-subtype +Orphanet:52503 X-linked creatine transporter deficiency 02-disease-root +Orphanet:52901 Isolated follicle stimulating hormone deficiency 02-disease-root +Orphanet:53 Albers-Schönberg osteopetrosis 01-disease-subtype +Orphanet:530 Lipoid proteinosis 02-disease-root +Orphanet:531 Miller-Dieker syndrome 01-disease-subtype +Orphanet:53296 Familial cutaneous collagenoma 02-disease-root +Orphanet:53372 Hereditary geniospasm 01-disease-subtype +Orphanet:534 Oculocerebrorenal syndrome 01-disease-subtype +Orphanet:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity 02-disease-root +Orphanet:53689 Congenital chloride diarrhea 01-disease-subtype +Orphanet:53690 Congenital lactase deficiency 01-disease-subtype +Orphanet:53691 Congenital cornea plana 01-disease-subtype +Orphanet:53696 Lethal arthrogryposis - anterior horn cell disease 01-disease-subtype +Orphanet:53697 Gnathodiaphyseal dysplasia 01-disease-subtype +Orphanet:53698 Hyaline body myopathy 01-disease-subtype +Orphanet:53739 Distal hereditary motor neuropathy 03-disease-area +Orphanet:538 Lymphangioleiomyomatosis 02-disease-root +Orphanet:540 Familial hemophagocytic lymphohistiocytosis 01-disease-subtype +Orphanet:54247 Posterior cortical atrophy 02-disease-root +Orphanet:54260 Left ventricular noncompaction 02-disease-root +Orphanet:54370 Primary membranoproliferative glomerulonephritis 02-disease-root +Orphanet:55 Oculocutaneous albinism 01-disease-subtype +Orphanet:550 MELAS 01-disease-subtype +Orphanet:551 MERRF 01-disease-subtype +Orphanet:552 MODY 02-disease-root +Orphanet:55595 Autosomal dominant limb-girdle muscular dystrophy type 1F 01-disease-subtype +Orphanet:55596 Autosomal dominant limb-girdle muscular dystrophy type 1G 01-disease-subtype +Orphanet:55654 Hypotrichosis simplex 02-disease-root +Orphanet:557 Isolated anorectal malformation 02-disease-root +Orphanet:55881 Adamantinoma 02-disease-root +Orphanet:559 Marinesco-Sjögren syndrome 01-disease-subtype +Orphanet:56 Alkaptonuria 01-disease-subtype +Orphanet:56304 Atelosteogenesis type II 01-disease-subtype +Orphanet:56305 Atelosteogenesis type III 01-disease-subtype +Orphanet:566 Congenital microcoria 01-disease-subtype +Orphanet:568 Microphthalmia, Lenz type 01-disease-subtype +Orphanet:569 Familial or sporadic hemiplegic migraine 01-disease-subtype +Orphanet:57 Glycogen storage disease due to aldolase A deficiency 01-disease-subtype +Orphanet:570 Moebius syndrome 01-disease-subtype +Orphanet:572 Immunodeficiency by defective expression of HLA class 2 02-disease-root +Orphanet:573 Monilethrix 01-disease-subtype +Orphanet:574 Monosomy 21 01-disease-subtype +Orphanet:577 Mucolipidosis type III 01-disease-subtype +Orphanet:578 Mucolipidosis type IV 01-disease-subtype +Orphanet:579 Mucopolysaccharidosis type 1 01-disease-subtype +Orphanet:580 Mucopolysaccharidosis type 2 01-disease-subtype +Orphanet:581 Mucopolysaccharidosis type 3 01-disease-subtype +Orphanet:582 Mucopolysaccharidosis type 4 01-disease-subtype +Orphanet:583 Mucopolysaccharidosis type 6 01-disease-subtype +Orphanet:584 Mucopolysaccharidosis type 7 01-disease-subtype +Orphanet:585 Multiple sulfatase deficiency 01-disease-subtype +Orphanet:586 Cystic fibrosis 02-disease-root +Orphanet:588 Muscle-eye-brain disease 01-disease-subtype +Orphanet:590 Congenital myasthenic syndromes 01-disease-subtype +Orphanet:59135 Laing early-onset distal myopathy 01-disease-subtype +Orphanet:59181 Sorsby's fundus dystrophy 02-disease-root +Orphanet:593 Myofibrillar myopathy 02-disease-root +Orphanet:59305 Gestational trophoblastic neoplasm 03-disease-area +Orphanet:595 Centronuclear myopathy 01-disease-subtype +Orphanet:597 Central core disease 01-disease-subtype +Orphanet:598 Multiminicore myopathy 01-disease-subtype +Orphanet:599 Distal myopathy 03-disease-area +Orphanet:6 Isolated 3-methylcrotonyl-CoA carboxylase deficiency 01-disease-subtype +Orphanet:60 Alpha-1-antitrypsin deficiency 02-disease-root +Orphanet:600 Distal myopathy with vocal cord weakness 01-disease-subtype +Orphanet:60015 Parietal foramina 01-disease-subtype +Orphanet:60025 Pulmonary alveolar microlithiasis 02-disease-root +Orphanet:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome 01-disease-subtype +Orphanet:60041 Congenital heart block 02-disease-root +Orphanet:602 Distal myopathy, Nonaka type 01-disease-subtype +Orphanet:603 Distal myopathy, Welander type 01-disease-subtype +Orphanet:606 Proximal myotonic myopathy 01-disease-subtype +Orphanet:607 Nemaline myopathy 01-disease-subtype +Orphanet:609 Tibial muscular dystrophy 01-disease-subtype +Orphanet:61 Alpha-mannosidosis 02-disease-root +Orphanet:612 Potassium-aggravated myotonia 01-disease-subtype +Orphanet:615 Familial atrial myxoma 01-disease-subtype +Orphanet:617 Congenital primary megaureter 02-disease-root +Orphanet:618 Familial melanoma 01-disease-subtype +Orphanet:62 Autosomal recessive limb-girdle muscular dystrophy type 2D 01-disease-subtype +Orphanet:620 Common mesentery 01-disease-subtype +Orphanet:621 Hereditary methemoglobinemia 02-disease-root +Orphanet:622 Homocystinuria without methylmalonic aciduria 01-disease-subtype +Orphanet:624 Familial multiple nevi flammei 02-disease-root +Orphanet:626 Large congenital melanocytic nevus 01-disease-subtype +Orphanet:628 Diastrophic dwarfism 01-disease-subtype +Orphanet:629 Short stature due to growth hormone qualitative anomaly 01-disease-subtype +Orphanet:631 Non-acquired isolated growth hormone deficiency 02-disease-root +Orphanet:632 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 01-disease-subtype +Orphanet:63259 Iniencephaly 02-disease-root +Orphanet:63260 Craniorachischisis 02-disease-root +Orphanet:63261 HERNS syndrome 01-disease-subtype +Orphanet:63273 Distal myopathy with posterior leg and anterior hand involvement 01-disease-subtype +Orphanet:63440 Isolated oxycephaly 01-disease-subtype +Orphanet:63442 Angel-shaped phalango-epiphyseal dysplasia 01-disease-subtype +Orphanet:63446 Acrocapitofemoral dysplasia 01-disease-subtype +Orphanet:63454 Patterned dystrophy of the retinal pigment epithelium 01-disease-subtype +Orphanet:636 Neurofibromatosis type 1 01-disease-subtype +Orphanet:637 Neurofibromatosis type 2 02-disease-root +Orphanet:638 Neurofibromatosis-Noonan syndrome 01-disease-subtype +Orphanet:640 Hereditary neuropathy with liability to pressure palsies 01-disease-subtype +Orphanet:642 Hereditary sensory and autonomic neuropathy type 4 01-disease-subtype +Orphanet:64280 Childhood absence epilepsy 01-disease-subtype +Orphanet:643 Giant axonal neuropathy 02-disease-root +Orphanet:64542 Acrofacial dysostosis, Kennedy-Teebi type 01-disease-subtype +Orphanet:64734 Iridocorneal endothelial syndrome 01-disease-subtype +Orphanet:64739 Ovarian hyperstimulation syndrome 02-disease-root +Orphanet:64747 X-linked Charcot-Marie-Tooth disease 01-disease-subtype +Orphanet:64748 Dejerine-Sottas syndrome 02-disease-root +Orphanet:64752 Hereditary sensory and autonomic neuropathy type 5 01-disease-subtype +Orphanet:64753 Spinocerebellar ataxia with axonal neuropathy type 2 01-disease-subtype +Orphanet:64754 Nevus comedonicus syndrome 01-disease-subtype +Orphanet:652 Multiple endocrine neoplasia type 1 01-disease-subtype +Orphanet:65284 Biotin-responsive basal ganglia disease 01-disease-subtype +Orphanet:65286 3q29 microdeletion syndrome 01-disease-subtype +Orphanet:65287 Beta-ureidopropionase deficiency 01-disease-subtype +Orphanet:65288 Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis 01-disease-subtype +Orphanet:653 Multiple endocrine neoplasia type 2 01-disease-subtype +Orphanet:654 Nephroblastoma 02-disease-root +Orphanet:655 Nephronophthisis 02-disease-root +Orphanet:656 Familial idiopathic steroid-resistant nephrotic syndrome 02-disease-root +Orphanet:65682 Benign recurrent intrahepatic cholestasis 01-disease-subtype +Orphanet:65683 Isolated focal cortical dysplasia 01-disease-subtype +Orphanet:657 Congenital isolated hyperinsulinism 03-disease-area +Orphanet:65720 Arthrogryposis - severe scoliosis 01-disease-subtype +Orphanet:65743 Autosomal dominant multiple pterygium syndrome 01-disease-subtype +Orphanet:661 Ondine syndrome 02-disease-root +Orphanet:663 Maternally-inherited progressive external ophthalmoplegia 01-disease-subtype +Orphanet:665 Albright hereditary osteodystrophy 01-disease-subtype +Orphanet:66518 Short fifth metacarpals - insulin resistance 01-disease-subtype +Orphanet:666 Osteogenesis imperfecta 01-disease-subtype +Orphanet:66625 Cerebro-oculo-nasal syndrome 02-disease-root +Orphanet:66628 Obesity due to congenital leptin deficiency 01-disease-subtype +Orphanet:66630 Congenital pseudoarthrosis of clavicle 02-disease-root +Orphanet:66633 Sensorineural hearing loss - early graying - essential tremor 01-disease-subtype +Orphanet:66634 Dilated cardiomyopathy with ataxia 01-disease-subtype +Orphanet:66637 Diaphanospondylodysostosis 01-disease-subtype +Orphanet:667 Autosomal recessive malignant osteopetrosis 01-disease-subtype +Orphanet:67036 Autosomal dominant optic atrophy and cataract 01-disease-subtype +Orphanet:67041 Hyaluronidase deficiency 01-disease-subtype +Orphanet:67042 Late-onset retinal degeneration 02-disease-root +Orphanet:67044 Thrombocytopenia with congenital dyserythropoietic anemia 01-disease-subtype +Orphanet:674 Accessory pancreas 01-disease-subtype +Orphanet:675 Annular pancreas 01-disease-subtype +Orphanet:676 Hereditary chronic pancreatitis 02-disease-root +Orphanet:678 Papillon-Lefèvre syndrome 01-disease-subtype +Orphanet:679 Malignant atrophic papulosis 02-disease-root +Orphanet:681 Hypokalemic periodic paralysis 01-disease-subtype +Orphanet:682 Hyperkalemic periodic paralysis 01-disease-subtype +Orphanet:683 Progressive supranuclear palsy 01-disease-subtype +Orphanet:68334 Rare hemorrhagic disorder due to a constitutional coagulation factors defect 02-disease-root +Orphanet:68335 Chromosomal anomaly 03-disease-area +Orphanet:68336 Rare genetic tumor 03-disease-area +Orphanet:68346 Rare genetic skin disease 03-disease-area +Orphanet:68356 Leukodystrophy 03-disease-area +Orphanet:68364 Hemoglobinopathy 03-disease-area +Orphanet:68366 Lysosomal disease 03-disease-area +Orphanet:68367 Inborn errors of metabolism 03-disease-area +Orphanet:68373 Peroxisomal disease 02-disease-root +Orphanet:68380 Mitochondrial disease 03-disease-area +Orphanet:68383 Rare constitutional medullar aplasia 03-disease-area +Orphanet:68385 Neurometabolic disease 03-disease-area +Orphanet:684 Paramyotonia congenita of Von Eulenburg 01-disease-subtype +Orphanet:685 Hereditary spastic paraplegia 02-disease-root +Orphanet:69028 Syndrome with brachydactyly 03-disease-area +Orphanet:69076 Renal glucosuria 02-disease-root +Orphanet:69082 Odonto-tricho-ungual-digito-palmar syndrome 02-disease-root +Orphanet:69083 Ectodermal dysplasia with natal teeth, Turnpenny type 02-disease-root +Orphanet:69084 Pure hair and nail ectodermal dysplasia 02-disease-root +Orphanet:69085 Limb-mammary syndrome 01-disease-subtype +Orphanet:69088 Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema 01-disease-subtype +Orphanet:69125 Anonychia with flexural pigmentation 01-disease-subtype +Orphanet:69126 Pyogenic arthritis - pyoderma gangrenosum - acne 02-disease-root +Orphanet:69663 Low phospholipid associated cholelithiasis 01-disease-subtype +Orphanet:69723 Tyrosinemia type 3 01-disease-subtype +Orphanet:69735 Hypotrichosis - lymphedema - telangiectasia 01-disease-subtype +Orphanet:69739 Athabaskan brainstem dysgenesis syndrome 02-disease-root +Orphanet:7 3C syndrome 01-disease-subtype +Orphanet:70 Proximal spinal muscular atrophy 02-disease-root +Orphanet:700 Alopecia totalis 02-disease-root +Orphanet:701 Alopecia universalis 02-disease-root +Orphanet:70470 Hyperlipoproteinemia type 5 01-disease-subtype +Orphanet:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 01-disease-subtype +Orphanet:70589 Bronchopulmonary dysplasia 02-disease-root +Orphanet:70592 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency 02-disease-root +Orphanet:70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency 02-disease-root +Orphanet:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency 01-disease-subtype +Orphanet:70595 Sensory ataxic neuropathy - dysarthria - ophthalmoparesis 01-disease-subtype +Orphanet:71 Chylomicron retention disease 01-disease-subtype +Orphanet:711 Glycogen storage disease due to phosphoglucomutase deficiency 02-disease-root +Orphanet:712 Hemolytic anemia due to glucophosphate isomerase deficiency 01-disease-subtype +Orphanet:71202 Rare hemorrhagic disorder due to a constitutional platelet anomaly 02-disease-root +Orphanet:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency 01-disease-subtype +Orphanet:71267 Dentinogenesis imperfecta - short stature - hearing loss - intellectual disability 01-disease-subtype +Orphanet:71270 Auriculoocular anomalies - cleft lip 02-disease-root +Orphanet:71271 Split hand - split foot - deafness 02-disease-root +Orphanet:71277 Encephalopathy due to GLUT1 deficiency 02-disease-root +Orphanet:71278 Congenital brain dysgenesis due to glutamine synthetase deficiency 01-disease-subtype +Orphanet:71289 Radio-ulnar synostosis - amegakaryocytic thrombocytopenia 01-disease-subtype +Orphanet:71291 Hereditary vascular retinopathy 01-disease-subtype +Orphanet:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency 01-disease-subtype +Orphanet:714 Hemolytic anemia due to diphosphoglycerate mutase deficiency 01-disease-subtype +Orphanet:71493 Familial thrombocytosis 01-disease-subtype +Orphanet:71517 Rapid-onset dystonia-parkinsonism 01-disease-subtype +Orphanet:71518 Benign paroxysmal torticollis of infancy 02-disease-root +Orphanet:71526 Obesity due to pro-opiomelanocortin deficiency 01-disease-subtype +Orphanet:71528 Obesity due to prohormone convertase I deficiency 01-disease-subtype +Orphanet:71529 Obesity due to melanocortin 4 receptor deficiency 01-disease-subtype +Orphanet:716 Phenylketonuria 02-disease-root +Orphanet:71859 Rare genetic neurological disorder 03-disease-area +Orphanet:71862 Retinal dystrophy 03-disease-area +Orphanet:720 Pili bifurcati 01-disease-subtype +Orphanet:721 Gray platelet syndrome 01-disease-subtype +Orphanet:722 Hypoplasminogenemia 02-disease-root +Orphanet:725 Continuous spikes and waves during sleep 02-disease-root +Orphanet:726 Alpers syndrome 01-disease-subtype +Orphanet:731 Autosomal recessive polycystic kidney disease 01-disease-subtype +Orphanet:73217 Müllerian aplasia 02-disease-root +Orphanet:73220 X-linked intellectual disability - hypotonic face 02-disease-root +Orphanet:73223 Global developmental delay - osteopenia - ectodermal defect 02-disease-root +Orphanet:73224 Tubular renal disease - cardiomyopathy 01-disease-subtype +Orphanet:73229 Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures 02-disease-root +Orphanet:73230 Ossification anomalies - psychomotor development delay 01-disease-subtype +Orphanet:73245 Spinal muscular atrophy - Dandy-Walker malformation - cataracts 01-disease-subtype +Orphanet:73246 Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay 02-disease-root +Orphanet:73271 Bleeding diathesis due to a collagen receptor defect 01-disease-subtype +Orphanet:73272 Growth delay due to insulin-like growth factor type 1 deficiency 02-disease-root +Orphanet:73273 Growth delay due to insulin-like growth factor I resistance 02-disease-root +Orphanet:733 Familial adenomatous polyposis 02-disease-root +Orphanet:735 Porokeratosis of Mibelli 02-disease-root +Orphanet:737 Porokeratosis plantaris palmaris et disseminata 01-disease-subtype +Orphanet:738 Porphyria 01-disease-subtype +Orphanet:742 Prolidase deficiency 01-disease-subtype +Orphanet:743 Hereditary thrombophilia due to congenital protein S deficiency 01-disease-subtype +Orphanet:745 Hereditary thrombophilia due to congenital protein C deficiency 01-disease-subtype +Orphanet:746 Mitochondrial trifunctional protein deficiency 01-disease-subtype +Orphanet:748 Mendelian susceptibility to mycobacterial diseases 03-disease-area +Orphanet:749 Congenital prekallikrein deficiency 01-disease-subtype +Orphanet:750 Pseudoachondroplasia 01-disease-subtype +Orphanet:75234 Cholesteryl ester storage disease 01-disease-subtype +Orphanet:75249 Familial isolated restrictive cardiomyopathy 01-disease-subtype +Orphanet:75325 Osteosclerosis - ichthyosis - premature ovarian failure 01-disease-subtype +Orphanet:75326 Retinal arterial tortuosity 02-disease-root +Orphanet:75373 Progressive bifocal chorioretinal atrophy 02-disease-root +Orphanet:75374 Bradyopsia 02-disease-root +Orphanet:75376 Familial drusen 01-disease-subtype +Orphanet:75377 Central areolar choroidal dystrophy 02-disease-root +Orphanet:75378 Oligocone trichromacy 02-disease-root +Orphanet:75381 Cystoid macular dystrophy 02-disease-root +Orphanet:75389 Brain malformation - congenital heart disease - postaxial polydactyly 01-disease-subtype +Orphanet:75391 Immunodeficiency with natural-killer cell deficiency and adrenal insufficiency 02-disease-root +Orphanet:754 Androgen insensitivity syndrome 01-disease-subtype +Orphanet:75496 Ehlers-Danlos syndrome, progeroid type 01-disease-subtype +Orphanet:75508 Angioosteohypotrophic syndrome 01-disease-subtype +Orphanet:756 Pseudohypoaldosteronism type 1 02-disease-root +Orphanet:757 Pseudohypoaldosteronism type 2 01-disease-subtype +Orphanet:758 Pseudoxanthoma elasticum 01-disease-subtype +Orphanet:75840 Congenital muscular dystrophy, Ullrich type 01-disease-subtype +Orphanet:760 Purine nucleoside phosphorylase deficiency 01-disease-subtype +Orphanet:763 Pycnodysostosis 01-disease-subtype +Orphanet:765 Pyruvate dehydrogenase deficiency 02-disease-root +Orphanet:766 Hemolytic anemia due to red cell pyruvate kinase deficiency 01-disease-subtype +Orphanet:768 Familial long QT syndrome 02-disease-root +Orphanet:77 Aniridia 01-disease-subtype +Orphanet:77240 Primary lymphedema 02-disease-root +Orphanet:77258 Trichorhinophalangeal syndrome type 1 and 3 01-disease-subtype +Orphanet:77259 Gaucher disease type 1 01-disease-subtype +Orphanet:77260 Gaucher disease type 2 01-disease-subtype +Orphanet:77261 Gaucher disease type 3 01-disease-subtype +Orphanet:77295 Odontoleukodystrophy 01-disease-subtype +Orphanet:77298 Anophthalmia/microphthalmia - esophageal atresia 01-disease-subtype +Orphanet:77299 Microphthalmia - brain atrophy 01-disease-subtype +Orphanet:773 Refsum disease 01-disease-subtype +Orphanet:77300 Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities 02-disease-root +Orphanet:77301 Monosomy 9q22.3 01-disease-subtype +Orphanet:77302 Oculo-oto-facial dysplasia 02-disease-root +Orphanet:77304 Not NOTCH3-related small vessel disease of the brain 02-disease-root +Orphanet:774 Hereditary hemorrhagic telangiectasia 01-disease-subtype +Orphanet:775 X-linked intellectual disability, Martinez type 02-disease-root +Orphanet:777 X-linked non-syndromic intellectual disability 01-disease-subtype +Orphanet:77828 Genetic obesity 03-disease-area +Orphanet:77830 Rare genetic odontologic disease 03-disease-area +Orphanet:786 Glucocorticoid resistance 02-disease-root +Orphanet:79 Congenital alpha2 antiplasmin deficiency 01-disease-subtype +Orphanet:790 Retinoblastoma 02-disease-root +Orphanet:79062 Disorder of amino acid and other organic acid metabolism 03-disease-area +Orphanet:79076 Juvenile polyposis of infancy 01-disease-subtype +Orphanet:79084 Familial partial lipodystrophy, Köbberling type 01-disease-subtype +Orphanet:79085 Familial partial lipodystrophy due to AKT2 mutations 01-disease-subtype +Orphanet:79091 Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia 01-disease-subtype +Orphanet:79094 Grange syndrome 02-disease-root +Orphanet:79095 Congenital bile acid synthesis defect type 4 01-disease-subtype +Orphanet:79096 Pyridoxal phosphate-responsive seizures 01-disease-subtype +Orphanet:79097 Folinic acid-responsive seizures 01-disease-subtype +Orphanet:791 Retinitis pigmentosa 02-disease-root +Orphanet:79100 Atrophoderma vermiculata 01-disease-subtype +Orphanet:79101 Hyperprolinemia type 2 01-disease-subtype +Orphanet:79102 Thyrotoxic periodic paralysis 02-disease-root +Orphanet:79107 Developmental malformations - deafness - dystonia 01-disease-subtype +Orphanet:79113 Mandibulofacial dysostosis-microcephaly syndrome 01-disease-subtype +Orphanet:79124 Hepatic veno-occlusive disease - immunodeficiency 02-disease-root +Orphanet:79129 Trichodysplasia - amelogenesis imperfecta 02-disease-root +Orphanet:79132 Sparse hair - short stature - skin anomalies 02-disease-root +Orphanet:79133 Focal facial dermal dysplasia type I 01-disease-subtype +Orphanet:79135 Episodic ataxia type 3 02-disease-root +Orphanet:79136 Episodic ataxia type 4 02-disease-root +Orphanet:79137 Generalized epilepsy - paroxysmal dyskinesia 01-disease-subtype +Orphanet:79141 Hereditary painful callosities 01-disease-subtype +Orphanet:79142 Familial Dupuytren contracture 02-disease-root +Orphanet:79143 Congenital anonychia 01-disease-subtype +Orphanet:79144 Congenital onychodysplasia 01-disease-subtype +Orphanet:79146 Familial progressive hyperpigmentation 01-disease-subtype +Orphanet:79147 Familial reactive perforating collagenosis 02-disease-root +Orphanet:79149 Dermochondrocorneal dystrophy 01-disease-subtype +Orphanet:79150 Linear and whorled nevoid hypermelanosis 01-disease-subtype +Orphanet:79152 Disseminated superficial actinic porokeratosis 02-disease-root +Orphanet:79153 Autosomal dominant nail dysplasia 01-disease-subtype +Orphanet:79155 Encephalopathy due to hydroxykynureninuria 01-disease-subtype +Orphanet:79156 Seizures - intellectual disability due to hydroxylysinuria 01-disease-subtype +Orphanet:79158 Cerebral organic aciduria 02-disease-root +Orphanet:79159 Isobutyryl-CoA dehydrogenase deficiency 01-disease-subtype +Orphanet:79161 Disorder of carbohydrate metabolism 03-disease-area +Orphanet:79163 Classic organic aciduria 02-disease-root +Orphanet:79166 Disorder of amino acid absorption and transport 02-disease-root +Orphanet:79167 Disorder of urea cycle metabolism and ammonia detoxification 02-disease-root +Orphanet:79168 Disorder of bile acid synthesis 03-disease-area +Orphanet:79169 Disorder of neurotransmitter metabolism and transport 01-disease-subtype +Orphanet:79171 Disorder of cobalamin metabolism and transport 01-disease-subtype +Orphanet:79173 Disorder of methionine cycle and sulfur amino acid metabolism 02-disease-root +Orphanet:79174 Disorder of fatty acid oxidation and ketone body metabolism 03-disease-area +Orphanet:79175 Disorder of gamma-aminobutyric acid metabolism 01-disease-subtype +Orphanet:79177 Gluconeogenesis disorder 02-disease-root +Orphanet:79178 Glucose transport disorder 03-disease-area +Orphanet:79179 Disorder of glycerol metabolism 02-disease-root +Orphanet:79181 Disorder of histidine metabolism 02-disease-root +Orphanet:79183 Disorder of ketone body metabolism 02-disease-root +Orphanet:79185 Disorder of ornithine or proline metabolism 02-disease-root +Orphanet:79186 Disorder of pentose phosphate metabolism 02-disease-root +Orphanet:79187 Disorder of peptide metabolism 02-disease-root +Orphanet:79188 Peroxisomal beta-oxidation disorder 03-disease-area +Orphanet:79189 Peroxisome biogenesis disorder-Zellweger syndrome spectrum 01-disease-subtype +Orphanet:79190 Disorder of phenylalanin or tyrosine metabolism 02-disease-root +Orphanet:79191 Disorder of purine metabolism 02-disease-root +Orphanet:79192 Disorder of pyridoxine metabolism 01-disease-subtype +Orphanet:79193 Disorder of pyrimidine metabolism 02-disease-root +Orphanet:79194 Disorder of serine or glycine metabolism 02-disease-root +Orphanet:79195 Sterol biosynthesis disorder 02-disease-root +Orphanet:79196 Disorder of the gamma-glutamyl cycle 02-disease-root +Orphanet:79197 Disorder of branched-chain amino acid metabolism 02-disease-root +Orphanet:79200 Disorder of energy metabolism 03-disease-area +Orphanet:79201 Glycogen storage disease 03-disease-area +Orphanet:79204 Lipid storage disease 03-disease-area +Orphanet:79207 Disorder of lysosomal amino acid transport 03-disease-area +Orphanet:79211 Combined hyperlipidemia 01-disease-subtype +Orphanet:79212 Mucolipidosis 02-disease-root +Orphanet:79213 Mucopolysaccharidosis 02-disease-root +Orphanet:79214 Disorder of biogenic amine metabolism and transport 02-disease-root +Orphanet:79215 Oligosaccharidosis 02-disease-root +Orphanet:79219 Metabolic disease involving other neurotransmitter deficiency 01-disease-subtype +Orphanet:79224 Disorder of purine or pyrimidine metabolism 03-disease-area +Orphanet:79225 Sphingolipidosis 03-disease-area +Orphanet:79226 Sterol metabolism disorder 03-disease-area +Orphanet:79230 Hemochromatosis type 2 01-disease-subtype +Orphanet:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency 01-disease-subtype +Orphanet:79237 Galactokinase deficiency 01-disease-subtype +Orphanet:79238 Galactose epimerase deficiency 01-disease-subtype +Orphanet:79239 Classic galactosemia 01-disease-subtype +Orphanet:79241 Biotinidase deficiency 01-disease-subtype +Orphanet:79242 Holocarboxylase synthetase deficiency 01-disease-subtype +Orphanet:79243 Pyruvate dehydrogenase E1-alpha deficiency 01-disease-subtype +Orphanet:79244 Pyruvate dehydrogenase E2 deficiency 01-disease-subtype +Orphanet:79246 Pyruvate dehydrogenase phosphatase deficiency 01-disease-subtype +Orphanet:79253 Mild phenylketonuria 01-disease-subtype +Orphanet:79254 Classical phenylketonuria 01-disease-subtype +Orphanet:79258 Glycogen storage disease due to glucose-6-phosphatase deficiency type a 01-disease-subtype +Orphanet:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type b 01-disease-subtype +Orphanet:79262 Adult neuronal ceroid lipofuscinosis 01-disease-subtype +Orphanet:79263 Infantile neuronal ceroid lipofuscinosis 01-disease-subtype +Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis 01-disease-subtype +Orphanet:79273 Hereditary coproporphyria 01-disease-subtype +Orphanet:79276 Acute intermittent porphyria 01-disease-subtype +Orphanet:79277 Congenital erythropoietic porphyria 01-disease-subtype +Orphanet:79278 Erythropoietic protoporphyria 01-disease-subtype +Orphanet:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 01-disease-subtype +Orphanet:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 01-disease-subtype +Orphanet:79281 Alpha-N-acetylgalactosaminidase deficiency type 3 01-disease-subtype +Orphanet:79282 Methylmalonic acidemia with homocystinuria, type cblC 01-disease-subtype +Orphanet:79283 Methylmalonic acidemia with homocystinuria, type cblD 01-disease-subtype +Orphanet:79284 Methylmalonic acidemia with homocystinuria type cblF 01-disease-subtype +Orphanet:79292 Fish-eye disease 02-disease-root +Orphanet:79293 Familial LCAT deficiency 02-disease-root +Orphanet:79298 Diazoxide-resistant focal hyperinsulinism 01-disease-subtype +Orphanet:79299 Hyperinsulinism due to glucokinase deficiency 01-disease-subtype +Orphanet:79301 Congenital bile acid synthesis defect type 1 01-disease-subtype +Orphanet:79302 Congenital bile acid synthesis defect type 3 01-disease-subtype +Orphanet:79303 Congenital bile acid synthesis defect type 2 01-disease-subtype +Orphanet:79304 Progressive familial intrahepatic cholestasis type 2 01-disease-subtype +Orphanet:79305 Progressive familial intrahepatic cholestasis type 3 01-disease-subtype +Orphanet:79306 Progressive familial intrahepatic cholestasis type 1 01-disease-subtype +Orphanet:79310 Vitamin B12-responsive methylmalonic acidemia type cblA 01-disease-subtype +Orphanet:79311 Vitamin B12-responsive methylmalonic acidemia type cblB 01-disease-subtype +Orphanet:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- 01-disease-subtype +Orphanet:79322 DPM1-CDG 01-disease-subtype +Orphanet:79344 Autosomal dominant chondrodysplasia punctata 01-disease-subtype +Orphanet:79346 Chondrodysplasia punctata, tibial-metacarpal type 01-disease-subtype +Orphanet:79347 Chondrodysplasia punctata, Toriello type 01-disease-subtype +Orphanet:79350 3-phosphoserine phosphatase deficiency 01-disease-subtype +Orphanet:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form 01-disease-subtype +Orphanet:79357 Hereditary palmoplantar keratoderma 03-disease-area +Orphanet:79360 Other genetic epidermal disease 03-disease-area +Orphanet:79361 Inherited epidermolysis bullosa 03-disease-area +Orphanet:79364 Alopecia 03-disease-area +Orphanet:79365 Hypertrichosis 02-disease-root +Orphanet:79366 Isolated hair shaft abnormality 02-disease-root +Orphanet:79367 Syndromic hair shaft abnormality 02-disease-root +Orphanet:79369 Isolated nail anomaly 01-disease-subtype +Orphanet:79370 Syndromic nail anomaly 01-disease-subtype +Orphanet:79373 Ectodermal dysplasia syndrome 03-disease-area +Orphanet:79383 Lymphedema 03-disease-area +Orphanet:79385 Unclassified genetic skin disorder 03-disease-area +Orphanet:79387 Metabolic disease with skin involvement 03-disease-area +Orphanet:79388 Mucopolysaccharidosis with skin involvement 02-disease-root +Orphanet:79394 Congenital non-bullous ichthyosiform erythroderma 01-disease-subtype +Orphanet:79395 Keratoderma hereditarium mutilans with ichthyosis 01-disease-subtype +Orphanet:79396 Epidermolysis bullosa simplex, Dowling-Meara type 01-disease-subtype +Orphanet:79397 Epidermolysis bullosa simplex with mottled pigmentation 01-disease-subtype +Orphanet:79399 Generalized epidermolysis bullosa simplex, non-Dowling-Meara type 01-disease-subtype +Orphanet:79400 Localized epidermolysis bullosa simplex 01-disease-subtype +Orphanet:79401 Epidermolysis bullosa simplex, Ogna type 01-disease-subtype +Orphanet:79402 Generalized junctional epidermolysis bullosa, non-Herlitz type 01-disease-subtype +Orphanet:79403 Junctional epidermolysis bullosa - pyloric atresia 01-disease-subtype +Orphanet:79404 Junctional epidermolysis bullosa, Herlitz type 01-disease-subtype +Orphanet:79405 Junctional epidermolysis bullosa inversa 01-disease-subtype +Orphanet:79406 Late-onset junctional epidermolysis bullosa 01-disease-subtype +Orphanet:79409 Recessive dystrophic epidermolysis bullosa inversa 01-disease-subtype +Orphanet:79410 Pretibial dystrophic epidermolysis bullosa 01-disease-subtype +Orphanet:79411 Transient bullous dermolysis of the newborn 01-disease-subtype +Orphanet:79414 Woolly hair nevus 01-disease-subtype +Orphanet:79431 Oculocutaneous albinism type 1A 01-disease-subtype +Orphanet:79432 Oculocutaneous albinism type 2 01-disease-subtype +Orphanet:79433 Oculocutaneous albinism type 3 01-disease-subtype +Orphanet:79434 Oculocutaneous albinism type 1B 01-disease-subtype +Orphanet:79435 Oculocutaneous albinism type 4 01-disease-subtype +Orphanet:79444 Pseudohypoparathyroidism type 1C 01-disease-subtype +Orphanet:79445 Pseudopseudohypoparathyroidism 01-disease-subtype +Orphanet:79452 Milroy disease 01-disease-subtype +Orphanet:79458 Oley syndrome 01-disease-subtype +Orphanet:79459 Follicular atrophoderma-basal cell carcinoma 01-disease-subtype +Orphanet:79473 Porphyria variegata 01-disease-subtype +Orphanet:79474 Atypical Werner syndrome 02-disease-root +Orphanet:79476 Griscelli disease type 1 01-disease-subtype +Orphanet:79477 Griscelli disease type 2 01-disease-subtype +Orphanet:79478 Griscelli disease type 3 01-disease-subtype +Orphanet:79483 Phakomatosis cesioflammea 01-disease-subtype +Orphanet:79484 Phakomatosis cesiomarmorata 01-disease-subtype +Orphanet:79485 Phakomatosis spilorosea 01-disease-subtype +Orphanet:79492 Pili gemini 01-disease-subtype +Orphanet:79499 Autosomal dominant deafness-onychodystrophy syndrome 01-disease-subtype +Orphanet:79501 Punctate palmoplantar keratoderma type 1 01-disease-subtype +Orphanet:79502 Punctate palmoplantar keratoderma type 2 01-disease-subtype +Orphanet:79503 Ichthyosis hystrix of Curth-Macklin 02-disease-root +Orphanet:79504 Ichthyosis hystrix gravior 02-disease-root +Orphanet:79506 Cholesterol-ester transfer protein deficiency 01-disease-subtype +Orphanet:79507 Hypotonia - failure to thrive - microcephaly 02-disease-root +Orphanet:79643 Autosomal recessive hyperinsulinism due to SUR1 deficiency 01-disease-subtype +Orphanet:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency 01-disease-subtype +Orphanet:79651 Mild hyperphenylalaninemia 01-disease-subtype +Orphanet:797 Sarcoidosis 02-disease-root +Orphanet:799 Schizencephaly 01-disease-subtype +Orphanet:805 Tuberous sclerosis 02-disease-root +Orphanet:812 sialidosis type I 01-disease-subtype +Orphanet:816 Sjögren-Larsson syndrome 01-disease-subtype +Orphanet:817 Peeling skin syndrome 01-disease-subtype +Orphanet:82004 Ehlers-Danlos syndrome with periventricular heterotopia 01-disease-subtype +Orphanet:822 Hereditary spherocytosis 01-disease-subtype +Orphanet:823 Isolated spina bifida 02-disease-root +Orphanet:832 Succinyl-CoA:3-ketoacid CoA transferase deficiency 01-disease-subtype +Orphanet:833 Encephalopathy due to sulfite oxidase deficiency 01-disease-subtype +Orphanet:834 Free sialic acid storage disease 02-disease-root +Orphanet:83418 Proximal spinal muscular atrophy type 2 01-disease-subtype +Orphanet:83419 Proximal spinal muscular atrophy type 3 01-disease-subtype +Orphanet:83420 Proximal spinal muscular atrophy type 4 01-disease-subtype +Orphanet:83454 Glomuvenous malformation 02-disease-root +Orphanet:83461 Congenital primary aphakia 01-disease-subtype +Orphanet:83471 Thymic aplasia 02-disease-root +Orphanet:83473 Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus 02-disease-root +Orphanet:83617 Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis 01-disease-subtype +Orphanet:83619 Macrostomia - preauricular tags - external ophthalmoplegia 02-disease-root +Orphanet:83620 Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells 01-disease-subtype +Orphanet:83628 PELVIS syndrome 02-disease-root +Orphanet:83639 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency 01-disease-subtype +Orphanet:83642 Microcytic anemia with liver iron overload 01-disease-subtype +Orphanet:83648 X-linked recessive intellectual disability - macrocephaly - ciliary dysfunction 02-disease-root +Orphanet:839 Congenital nephrotic syndrome, Finnish type 01-disease-subtype +Orphanet:84064 Syndromic diarrhea 01-disease-subtype +Orphanet:84090 Fibronectin glomerulopathy 02-disease-root +Orphanet:84093 Hereditary thermosensitive neuropathy 01-disease-subtype +Orphanet:84096 Unknown leukodystrophy 02-disease-root +Orphanet:841 Sebocystomatosis 01-disease-subtype +Orphanet:84132 Desmin-related myopathy with Mallory body-like inclusions 01-disease-subtype +Orphanet:84271 Sporadic idiopathic steroid-resistant nephrotic syndrome 02-disease-root +Orphanet:844 Atrial tachyarrhythmia with short PR interval 02-disease-root +Orphanet:846 Alpha-thalassemia 01-disease-subtype +Orphanet:847 Alpha-thalassemia - X-linked intellectual disability syndrome 01-disease-subtype +Orphanet:848 Beta-thalassemia 01-disease-subtype +Orphanet:85 Congenital dyserythropoietic anemia 01-disease-subtype +Orphanet:85110 Familial encephalopathy with neuroserpin inclusion bodies 02-disease-root +Orphanet:85112 Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma 01-disease-subtype +Orphanet:85136 Cystic leukoencephalopathy without megalencephaly 02-disease-root +Orphanet:85146 Scapuloperoneal amyotrophy 01-disease-subtype +Orphanet:85162 Facial onset sensory and motor neuronopathy 02-disease-root +Orphanet:85163 Hypomyelination - congenital cataract 02-disease-root +Orphanet:85164 Camptodactyly - tall stature - scoliosis - hearing loss 01-disease-subtype +Orphanet:85165 Severe achondroplasia - developmental delay - acanthosis nigricans 01-disease-subtype +Orphanet:85166 Platyspondylic dysplasia, Torrance type 01-disease-subtype +Orphanet:85167 Spondylometaphyseal dysplasia - cone-rod dystrophy 01-disease-subtype +Orphanet:85168 Craniofacial conodysplasia 01-disease-subtype +Orphanet:85169 Familial digital arthropathy-brachydactyly 02-disease-root +Orphanet:85170 Mesomelic dysplasia, Savarirayan type 01-disease-subtype +Orphanet:85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type 01-disease-subtype +Orphanet:85174 Pseudodiastrophic dysplasia 01-disease-subtype +Orphanet:85179 Infantile osteopetrosis with neuroaxonal dysplasia 01-disease-subtype +Orphanet:85182 Diaphyseal medullary stenosis - bone malignancy 02-disease-root +Orphanet:85184 Craniometadiaphyseal dysplasia, wormian bone type 01-disease-subtype +Orphanet:85186 Endosteal sclerosis - cerebellar hypoplasia 01-disease-subtype +Orphanet:85188 Metaphyseal dysplasia, Braun-Tinschert type 01-disease-subtype +Orphanet:85192 Calvarial doughnut lesions - bone fragility 01-disease-subtype +Orphanet:85193 Idiopathic juvenile osteoporosis 01-disease-subtype +Orphanet:85194 Spondylo-ocular syndrome 01-disease-subtype +Orphanet:85195 Familial expansile osteolysis 01-disease-subtype +Orphanet:85196 Nodulosis-arthropathy-osteolysis syndrome 01-disease-subtype +Orphanet:85197 Genochondromatosis type 1 01-disease-subtype +Orphanet:85198 Dysspondyloenchondromatosis 01-disease-subtype +Orphanet:85199 Craniosynostosis - anal anomalies - porokeratosis 01-disease-subtype +Orphanet:852 X-linked thrombocytopenia with normal platelets 01-disease-subtype +Orphanet:85200 Ischio-vertebral syndrome 01-disease-subtype +Orphanet:85201 Genitopatellar syndrome 01-disease-subtype +Orphanet:85203 Acro-pectoral syndrome 02-disease-root +Orphanet:85273 X-linked intellectual disability, Abidi type 02-disease-root +Orphanet:85274 Syndromic X-linked intellectual disability 7 02-disease-root +Orphanet:85275 Microphthalmia - ankyloblepharon - intellectual disability 01-disease-subtype +Orphanet:85279 Syndromic X-linked intellectual disability due to JARID1C mutation 02-disease-root +Orphanet:85280 X-linked intellectual disability - cubitus valgus - dysmorphism 02-disease-root +Orphanet:85286 X-linked intellectual disability, Shashi type 02-disease-root +Orphanet:85287 X-linked intellectual disability, Siderius type 02-disease-root +Orphanet:85288 X-linked intellectual disability, Stocco Dos Santos type 02-disease-root +Orphanet:85289 X-linked intellectual disability, Vitale type 02-disease-root +Orphanet:85290 X-linked intellectual disability, Wilson type 02-disease-root +Orphanet:85291 X-linked intellectual disability, Wittwer type 02-disease-root +Orphanet:85294 X-linked epilepsy - learning disabilities - behavior disorders 02-disease-root +Orphanet:85295 HSD10 disease, atypical type 01-disease-subtype +Orphanet:85317 X-linked intellectual disability - hypogammaglobulinemia - progressive neurological deterioration 02-disease-root +Orphanet:85318 X-linked intellectual disability - precocious puberty - obesity 02-disease-root +Orphanet:85319 X-linked intellectual disability - epilepsy - progressive joint contractures - dysmorphism 02-disease-root +Orphanet:85320 X-linked intellectual disability - macrocephaly - macroorchidism 02-disease-root +Orphanet:85321 Deafness - intellectual disability, Martin-Probst type 02-disease-root +Orphanet:85324 X-linked intellectual disability, Shrimpton type 02-disease-root +Orphanet:85327 X-linked intellectual disability - acromegaly - hyperactivity 02-disease-root +Orphanet:85328 X-linked intellectual disability, Turner type 02-disease-root +Orphanet:85330 X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis 01-disease-subtype +Orphanet:85331 X-linked intellectual disability - hypogonadism - ichthyosis - obesity - short stature 01-disease-subtype +Orphanet:85335 Fried syndrome 02-disease-root +Orphanet:85337 X-linked intellectual disability, Zorick type 02-disease-root +Orphanet:85338 X-linked intellectual disability - ataxia - apraxia 01-disease-subtype +Orphanet:85442 Short stature - pituitary and cerebellar defects - small sella turcica 01-disease-subtype +Orphanet:85448 Familial amyloidosis, Finnish type 01-disease-subtype +Orphanet:85450 Familial renal amyloidosis 02-disease-root +Orphanet:85453 X-linked reticulate pigmentary disorder with systemic manifestations 01-disease-subtype +Orphanet:85458 Hereditary cerebral hemorrhage with amyloidosis 02-disease-root +Orphanet:859 Transcobalamin deficiency 01-disease-subtype +Orphanet:86 Familial abdominal aortic aneurysm 02-disease-root +Orphanet:860 Congenitally uncorrected transposition of the great arteries 01-disease-subtype +Orphanet:867 Familial multiple trichoepithelioma 01-disease-subtype +Orphanet:86789 Patella aplasia/hypoplasia 01-disease-subtype +Orphanet:868 Triose phosphate-isomerase deficiency 01-disease-subtype +Orphanet:86812 Autosomal recessive limb-girdle muscular dystrophy type 2K 01-disease-subtype +Orphanet:86813 Helicoid peripapillary chorioretinal degeneration 02-disease-root +Orphanet:86814 Benign adult familial myoclonic epilepsy 01-disease-subtype +Orphanet:86815 Aplasia of lacrimal and salivary glands 01-disease-subtype +Orphanet:86816 Congenital analbuminemia 02-disease-root +Orphanet:86817 Hemolytic anemia due to adenylate kinase deficiency 01-disease-subtype +Orphanet:86818 Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis 01-disease-subtype +Orphanet:86819 Atrichia with papular lesions 02-disease-root +Orphanet:86820 Familial avascular necrosis of femoral head 01-disease-subtype +Orphanet:86821 Lissencephaly type 3 - familial fetal akinesia sequence 01-disease-subtype +Orphanet:86822 Lissencephaly type 3 - metacarpal bone dysplasia 01-disease-subtype +Orphanet:86823 Lissencephaly with cerebellar hypoplasia 01-disease-subtype +Orphanet:869 Triple A syndrome 01-disease-subtype +Orphanet:86906 Hypothalamic hamartomas with gelastic seizures 02-disease-root +Orphanet:86909 Myoclonic epilepsy of infancy 01-disease-subtype +Orphanet:86913 Myoclonic epilepsy in non-progressive encephalopathies 01-disease-subtype +Orphanet:86914 Lymphedema - cerebral arteriovenous anomaly 01-disease-subtype +Orphanet:86915 Lymphedema - atrial septal defects - facial changes 01-disease-subtype +Orphanet:86917 Lymphedema - cleft palate 01-disease-subtype +Orphanet:86918 Diffuse palmoplantar keratoderma-acrocyanosis syndrome 01-disease-subtype +Orphanet:86919 Keratosis palmaris et plantaris - clinodactyly 01-disease-subtype +Orphanet:86920 Dermatopathia pigmentosa reticularis 01-disease-subtype +Orphanet:86923 Hereditary palmoplantar keratoderma, Gamborg-Nielsen type 01-disease-subtype +Orphanet:87 Apert syndrome 01-disease-subtype +Orphanet:871 Familial progressive cardiac conduction defect 02-disease-root +Orphanet:87503 Mal de Meleda 01-disease-subtype +Orphanet:87876 sialidosis type II 01-disease-subtype +Orphanet:87884 Non-syndromic genetic deafness 02-disease-root +Orphanet:882 Tyrosinemia type 1 01-disease-subtype +Orphanet:884 Tetrasomy 12p 01-disease-subtype +Orphanet:88616 Autosomal recessive non-syndromic intellectual disability 01-disease-subtype +Orphanet:88618 Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency 01-disease-subtype +Orphanet:88619 Familial acute necrotizing encephalopathy 02-disease-root +Orphanet:88621 Ichthyosis prematurity syndrome 01-disease-subtype +Orphanet:88628 Posterior column ataxia - retinitis pigmentosa 01-disease-subtype +Orphanet:88629 Tritanopia 01-disease-subtype +Orphanet:88630 Terminal osseous dysplasia - pigmentary defects 01-disease-subtype +Orphanet:88632 Familial ocular anterior segment mesenchymal dysgenesis 01-disease-subtype +Orphanet:88635 Myopathy due to calsequestrin and SERCA1 protein overload 01-disease-subtype +Orphanet:88637 Hypomyelination - hypogonadotropic hypogonadism - hypodontia 01-disease-subtype +Orphanet:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency 01-disease-subtype +Orphanet:88642 Channelopathy-associated congenital insensitivity to pain 01-disease-subtype +Orphanet:88643 Obesity - colitis - hypothyroidism - cardiac hypertrophy - developmental delay 01-disease-subtype +Orphanet:88644 Autosomal recessive ataxia, Beauce type 01-disease-subtype +Orphanet:88659 Autosomal dominant progressive nephropathy with hypertension 01-disease-subtype +Orphanet:88660 Pseudohyperaldosteronism type 2 01-disease-subtype +Orphanet:88661 Amelogenesis imperfecta 01-disease-subtype +Orphanet:887 VACTERL/VATER association 02-disease-root +Orphanet:888 Van der Woude syndrome 02-disease-root +Orphanet:88918 Autosomal dominant Alport syndrome 01-disease-subtype +Orphanet:88919 Autosomal recessive Alport syndrome 01-disease-subtype +Orphanet:88924 Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis 01-disease-subtype +Orphanet:88938 Pseudohypoaldosteronism type 2A 01-disease-subtype +Orphanet:88939 Pseudohypoaldosteronism type 2B 01-disease-subtype +Orphanet:88940 Pseudohypoaldosteronism type 2C 01-disease-subtype +Orphanet:88950 Autosomal dominant medullary cystic kidney disease with hyperuricemia 01-disease-subtype +Orphanet:88993 Esophageal malformation 03-disease-area +Orphanet:891 Familial exudative vitreoretinopathy 02-disease-root +Orphanet:892 Von Hippel-Lindau disease 02-disease-root +Orphanet:89832 Syndromic lymphedema 02-disease-root +Orphanet:89838 KRT14-related epidermolysis bullosa simplex 01-disease-subtype +Orphanet:89839 Epidermolysis bullosa simplex superficialis 01-disease-subtype +Orphanet:89840 Junctional epidermolysis bullosa, non-Herlitz type 01-disease-subtype +Orphanet:89841 Centripetalis recessive dystrophic epidermolysis bullosa 01-disease-subtype +Orphanet:89842 Recessive dystrophic epidermolysis bullosa-generalized other 01-disease-subtype +Orphanet:89843 Dystrophic epidermolysis bullosa pruriginosa 01-disease-subtype +Orphanet:89844 Lissencephaly syndrome, Norman-Roberts type 01-disease-subtype +Orphanet:89936 X-linked hypophosphatemia 01-disease-subtype +Orphanet:89937 Autosomal dominant hypophosphatemic rickets 01-disease-subtype +Orphanet:89938 Infantile Bartter syndrome with sensorineural deafness 01-disease-subtype +Orphanet:9 Tetrasomy X 01-disease-subtype +Orphanet:90 Argininemia 01-disease-subtype +Orphanet:90023 Primary immunodeficiency syndrome due to p14 deficiency 01-disease-subtype +Orphanet:90024 Deafness with labyrinthine aplasia, microtia, and microdontia 02-disease-root +Orphanet:90025 Syndactyly 03-disease-area +Orphanet:90026 Primary erythermalgia 01-disease-subtype +Orphanet:90030 Hemolytic anemia due to glutathione reductase deficiency 01-disease-subtype +Orphanet:90031 Non-spherocytic hemolytic anemia due to hexokinase deficiency 01-disease-subtype +Orphanet:90039 Hemoglobin D disease 02-disease-root +Orphanet:90044 Familial pseudohyperkalemia 02-disease-root +Orphanet:90045 Hereditary folate malabsorption 01-disease-subtype +Orphanet:90103 Charcot-Marie-Tooth disease - deafness - intellectual disability 01-disease-subtype +Orphanet:90114 Autosomal dominant intermediate Charcot-Marie-Tooth disease 01-disease-subtype +Orphanet:90117 Hereditary motor and sensory neuropathy, Okinawa type 01-disease-subtype +Orphanet:90118 Severe early-onset axonal neuropathy due to MFN2 deficiency 01-disease-subtype +Orphanet:90119 Axonal Charcot-Marie-Tooth disease with acrodystrophy 01-disease-subtype +Orphanet:90120 Hereditary motor and sensory neuropathy type 6 01-disease-subtype +Orphanet:90153 Mandibuloacral dysplasia with type A lipodystrophy 01-disease-subtype +Orphanet:90154 Mandibuloacral dysplasia with type B lipodystrophy 01-disease-subtype +Orphanet:90185 Non-hereditary late-onset primary lymphedema 01-disease-subtype +Orphanet:90186 Meige disease 01-disease-subtype +Orphanet:90280 Chilblain lupus 02-disease-root +Orphanet:903 Von Willebrand disease 01-disease-subtype +Orphanet:90301 Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement 01-disease-subtype +Orphanet:90308 Klippel-Trénaunay syndrome 01-disease-subtype +Orphanet:90309 Ehlers-Danlos syndrome type 1 01-disease-subtype +Orphanet:90318 Ehlers-Danlos syndrome type 2 01-disease-subtype +Orphanet:90342 Xeroderma pigmentosum variant 01-disease-subtype +Orphanet:90348 Autosomal dominant cutis laxa 02-disease-root +Orphanet:90349 Autosomal recessive cutis laxa type 1 01-disease-subtype +Orphanet:90350 Autosomal recessive cutis laxa type 2 01-disease-subtype +Orphanet:90354 Brittle cornea syndrome 01-disease-subtype +Orphanet:90362 Primary intestinal lymphangiectasia 02-disease-root +Orphanet:90368 Hypotrichosis simplex of the scalp 02-disease-root +Orphanet:90390 Anonychia - onychodystrophy 01-disease-subtype +Orphanet:90641 Mitochondrial non-syndromic sensorineural deafness 01-disease-subtype +Orphanet:90642 Syndromic genetic deafness 03-disease-area +Orphanet:90646 Deafness - hypogonadism 02-disease-root +Orphanet:90650 Otopalatodigital syndrome type 1 01-disease-subtype +Orphanet:90652 Otopalatodigital syndrome type 2 01-disease-subtype +Orphanet:90673 Hypothyroidism due to TSH receptor mutations 01-disease-subtype +Orphanet:90674 Isolated thyroid-stimulating hormone deficiency 01-disease-subtype +Orphanet:90695 Panhypopituitarism 01-disease-subtype +Orphanet:90783 46,XY disorder of sex development due to testosterone synthesis defect 01-disease-subtype +Orphanet:90786 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect 01-disease-subtype +Orphanet:90787 46,XY disorder of sex development due to testicular steroidogenesis defect 01-disease-subtype +Orphanet:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency 01-disease-subtype +Orphanet:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency 01-disease-subtype +Orphanet:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency 01-disease-subtype +Orphanet:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 01-disease-subtype +Orphanet:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency 01-disease-subtype +Orphanet:90796 46,XY disorder of sex development due to isolated 17,20 lyase deficiency 01-disease-subtype +Orphanet:90797 Partial androgen insensitivity syndrome 01-disease-subtype +Orphanet:908 Fragile X syndrome 01-disease-subtype +Orphanet:909 Cerebrotendinous xanthomatosis 01-disease-subtype +Orphanet:90970 Primary lipodystrophy 03-disease-area +Orphanet:91 Aromatase deficiency 01-disease-subtype +Orphanet:910 Xeroderma pigmentosum 01-disease-subtype +Orphanet:91088 Other metabolic disease 03-disease-area +Orphanet:911 Combined immunodeficiency due to ZAP70 deficiency 02-disease-root +Orphanet:91130 Cardiomyopathy - hypotonia - lactic acidosis 01-disease-subtype +Orphanet:91132 Ichthyosis-hypotrichosis syndrome 01-disease-subtype +Orphanet:91133 Osteopenia - myopia - hearing loss - intellectual disability - facial dysmorphism 02-disease-root +Orphanet:91135 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency 02-disease-root +Orphanet:912 Zellweger syndrome 01-disease-subtype +Orphanet:91357 Duplication of the esophagus 01-disease-subtype +Orphanet:91358 Congenital esophageal diverticulum 01-disease-subtype +Orphanet:91378 Hereditary angioedema 02-disease-root +Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection 01-disease-subtype +Orphanet:91396 Isolated cryptophthalmia 01-disease-subtype +Orphanet:91397 Isolated ankyloblepharon filiforme adnatum 01-disease-subtype +Orphanet:91411 Congenital ptosis 02-disease-root +Orphanet:91412 Marcus-Gunn syndrome 02-disease-root +Orphanet:91413 Congenital Horner syndrome 02-disease-root +Orphanet:91416 Isolated congenital alacrima 01-disease-subtype +Orphanet:91489 Isolated congenital megalocornea 01-disease-subtype +Orphanet:91490 Isolated congenital sclerocornea 01-disease-subtype +Orphanet:91491 Congenital ectropion uveae 01-disease-subtype +Orphanet:91494 Macular coloboma - cleft palate - hallux valgus 02-disease-root +Orphanet:91495 Persistent hyperplastic primary vitreous 01-disease-subtype +Orphanet:91496 Snowflake vitreoretinal degeneration 02-disease-root +Orphanet:91498 Familial congenital palsy of trochlear nerve 01-disease-subtype +Orphanet:920 Ablepharon macrostomia syndrome 01-disease-subtype +Orphanet:92050 Intestinal epithelial dysplasia 01-disease-subtype +Orphanet:927 Hyperammonemia due to N-acetylglutamate synthetase deficiency 01-disease-subtype +Orphanet:929 Achalasia - microcephaly 01-disease-subtype +Orphanet:93 Aspartylglucosaminuria 02-disease-root +Orphanet:931 Acheiropodia 02-disease-root +Orphanet:93100 Unilateral renal agenesis 02-disease-root +Orphanet:93101 Renal hypoplasia 02-disease-root +Orphanet:93108 Renal dysplasia 02-disease-root +Orphanet:93110 Posterior urethral valve 02-disease-root +Orphanet:93111 Renal cysts and diabetes syndrome 02-disease-root +Orphanet:93114 Autosomal dominant intermediate Charcot-Marie-Tooth disease type E 01-disease-subtype +Orphanet:93160 Hypocalcemic vitamin D-resistant rickets 01-disease-subtype +Orphanet:93172 Unilateral renal dysplasia 01-disease-subtype +Orphanet:93173 Bilateral renal dysplasia 01-disease-subtype +Orphanet:93178 Partial prune belly syndrome 01-disease-subtype +Orphanet:932 Achondrogenesis 01-disease-subtype +Orphanet:93214 Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation 01-disease-subtype +Orphanet:93216 Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes 01-disease-subtype +Orphanet:93217 Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis 01-disease-subtype +Orphanet:93218 Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis 01-disease-subtype +Orphanet:93220 Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis 01-disease-subtype +Orphanet:93221 Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes 01-disease-subtype +Orphanet:93222 Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation 01-disease-subtype +Orphanet:93256 Fragile X-associated tremor/ataxia syndrome 01-disease-subtype +Orphanet:93262 Crouzon syndrome - acanthosis nigricans 01-disease-subtype +Orphanet:93267 Cloverleaf skull - multiple congenital anomalies 02-disease-root +Orphanet:93268 Short rib-polydactyly syndrome, Beemer-Langer type 01-disease-subtype +Orphanet:93269 Short rib-polydactyly syndrome, Majewski type 01-disease-subtype +Orphanet:93271 Short rib-polydactyly syndrome, Verma-Naumoff type 01-disease-subtype +Orphanet:93274 Thanatophoric dysplasia type 2 01-disease-subtype +Orphanet:93276 Polyostotic fibrous dysplasia 01-disease-subtype +Orphanet:93277 Monostotic fibrous dysplasia 01-disease-subtype +Orphanet:93279 Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis 01-disease-subtype +Orphanet:93282 Spondyloepimetaphyseal dysplasia, Pakistani type 01-disease-subtype +Orphanet:93283 Spondyloepiphyseal dysplasia, Kimberley type 01-disease-subtype +Orphanet:93284 Spondyloepiphyseal dysplasia tarda 02-disease-root +Orphanet:93293 Okihiro syndrome 01-disease-subtype +Orphanet:93296 Achondrogenesis type 2 01-disease-subtype +Orphanet:93297 Hypochondrogenesis 01-disease-subtype +Orphanet:93298 Achondrogenesis type 1B 01-disease-subtype +Orphanet:93299 Achondrogenesis type 1A 01-disease-subtype +Orphanet:93302 Brachyolmia, Maroteaux type 01-disease-subtype +Orphanet:93304 Autosomal dominant brachyolmia 01-disease-subtype +Orphanet:93307 Multiple epiphyseal dysplasia type 4 01-disease-subtype +Orphanet:93308 Multiple epiphyseal dysplasia type 1 01-disease-subtype +Orphanet:93311 Multiple epiphyseal dysplasia type 5 01-disease-subtype +Orphanet:93314 Spondylometaphyseal dysplasia, Kozlowski type 01-disease-subtype +Orphanet:93315 Spondylometaphyseal dysplasia, 'corner fracture' type 01-disease-subtype +Orphanet:93316 Spondylometaphyseal dysplasia, Schmidt type 01-disease-subtype +Orphanet:93317 Spondylometaphyseal dysplasia, Sedaghatian type 01-disease-subtype +Orphanet:93320 Ulnar hemimelia 01-disease-subtype +Orphanet:93321 Radial hemimelia 01-disease-subtype +Orphanet:93322 Tibial hemimelia 01-disease-subtype +Orphanet:93323 Fibular hemimelia 01-disease-subtype +Orphanet:93324 Autosomal recessive Kenny-Caffey syndrome 01-disease-subtype +Orphanet:93325 Autosomal dominant Kenny-Caffey syndrome 01-disease-subtype +Orphanet:93328 Autosomal dominant omodysplasia 01-disease-subtype +Orphanet:93329 Autosomal recessive omodysplasia 01-disease-subtype +Orphanet:93333 Pelviscapular dysplasia 02-disease-root +Orphanet:93334 Postaxial polydactyly type A 01-disease-subtype +Orphanet:93335 Postaxial polydactyly type B 01-disease-subtype +Orphanet:93336 Polydactyly of a triphalangeal thumb 01-disease-subtype +Orphanet:93337 Polydactyly of an index finger 01-disease-subtype +Orphanet:93338 Polysyndactyly 01-disease-subtype +Orphanet:93339 Polydactyly of a biphalangeal thumb 01-disease-subtype +Orphanet:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type 01-disease-subtype +Orphanet:93347 Anauxetic dysplasia 02-disease-root +Orphanet:93351 Spondyloepimetaphyseal dysplasia, Irapa type 02-disease-root +Orphanet:93352 Spondyloepimetaphyseal dysplasia, Shohat type 02-disease-root +Orphanet:93356 Spondyloepimetaphyseal dysplasia, Missouri type 02-disease-root +Orphanet:93357 SPONASTRIME dysplasia 02-disease-root +Orphanet:93358 Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification 02-disease-root +Orphanet:93359 Spondyloepimetaphyseal dysplasia with joint laxity 01-disease-subtype +Orphanet:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations 02-disease-root +Orphanet:93365 CINCA syndrome with NLRP3 mutations 01-disease-subtype +Orphanet:93367 CINCA syndrome without NLRP3 mutations 01-disease-subtype +Orphanet:93372 Familial hypocalciuric hypercalcemia type 1 01-disease-subtype +Orphanet:93382 Brachydactyly type A6 01-disease-subtype +Orphanet:93383 Brachydactyly type B 02-disease-root +Orphanet:93384 Brachydactyly type C 02-disease-root +Orphanet:93387 Brachydactyly type E 02-disease-root +Orphanet:93388 Brachydactyly type A1 02-disease-root +Orphanet:93389 Brachydactyly type A5 02-disease-root +Orphanet:93394 Brachydactyly type A4 02-disease-root +Orphanet:93396 Brachydactyly type A2 02-disease-root +Orphanet:93397 Brachydactyly type A7 02-disease-root +Orphanet:93398 Genochondromatosis type 2 01-disease-subtype +Orphanet:93399 juvenile sialidosis type II 01-disease-subtype +Orphanet:93400 congenital sialidosis type II 01-disease-subtype +Orphanet:93402 Syndactyly type 1 02-disease-root +Orphanet:93403 Syndactyly type 2 02-disease-root +Orphanet:93404 Syndactyly type 3 02-disease-root +Orphanet:93405 Syndactyly type 4 02-disease-root +Orphanet:93406 Syndactyly type 5 02-disease-root +Orphanet:93421 Type 2 collagen-related bone disorder 02-disease-root +Orphanet:93422 Type 11 collagen-related bone disorder 02-disease-root +Orphanet:93423 Sulfation-related bone disorder 02-disease-root +Orphanet:93424 Perlecan-related bone disorder 02-disease-root +Orphanet:93425 Filamin-related bone disorder 02-disease-root +Orphanet:93426 Short rib dysplasia 02-disease-root +Orphanet:93429 Multiple epiphyseal dysplasia and pseudoachondroplasia 02-disease-root +Orphanet:93430 Multiple metaphyseal dysplasia 02-disease-root +Orphanet:93434 Spondylodysplastic dysplasia 02-disease-root +Orphanet:93436 Acromelic dysplasia 02-disease-root +Orphanet:93437 Acromesomelic dysplasia 02-disease-root +Orphanet:93438 Mesomelic and rhizo-mesomelic dysplasia 02-disease-root +Orphanet:93439 Bent bone dysplasia 02-disease-root +Orphanet:93440 Slender bone dysplasia 02-disease-root +Orphanet:93441 Primary bone dysplasia with multiple joint dislocations 02-disease-root +Orphanet:93442 Chondrodysplasia punctata 02-disease-root +Orphanet:93443 Neonatal osteosclerotic dysplasia 01-disease-subtype +Orphanet:93444 Primary bone dysplasia with increased bone density 02-disease-root +Orphanet:93446 Primary bone dysplasia with decreased bone density 02-disease-root +Orphanet:93447 Primary bone dysplasia with defective bone mineralization 02-disease-root +Orphanet:93448 Lysosomal storage disease with skeletal involvement 03-disease-area +Orphanet:93449 Primary osteolysis 02-disease-root +Orphanet:93450 Primary bone dysplasia with disorganized development of skeletal components 02-disease-root +Orphanet:93451 Cleidocranial dysplasia and isolated cranial ossification defect 02-disease-root +Orphanet:93453 Dysostosis with predominant craniofacial involvement 02-disease-root +Orphanet:93454 Dysostosis with predominant vertebral and costal involvement 02-disease-root +Orphanet:93455 Patellar dysostosis 02-disease-root +Orphanet:93457 Non-syndromic limb reduction defect 03-disease-area +Orphanet:93458 Non-syndromic polydactyly, syndactyly and/or hyperphalangy 03-disease-area +Orphanet:93459 Syndrome with synostosis or other joint formation defect 02-disease-root +Orphanet:93460 Overgrowth syndrome 03-disease-area +Orphanet:93465 Lethal chondrodysplasia 02-disease-root +Orphanet:935 Short-limb skeletal dysplasia with severe combined immunodeficiency 01-disease-subtype +Orphanet:93547 Syndromic renal or urinary tract malformation 03-disease-area +Orphanet:93550 Basement membrane disease 03-disease-area +Orphanet:93560 Familial renal amyloidosis due to Apolipoprotein AI variant 01-disease-subtype +Orphanet:93561 Familial renal amyloidosis due to lysozyme variant 01-disease-subtype +Orphanet:93562 Familial renal amyloidosis due to fibrinogen A alpha-chain variant 01-disease-subtype +Orphanet:93571 Dense deposit disease 01-disease-subtype +Orphanet:93575 Atypical hemolytic-uremic syndrome with C3 anomaly 01-disease-subtype +Orphanet:93576 Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly 01-disease-subtype +Orphanet:93578 Atypical hemolytic-uremic syndrome with B factor anomaly 01-disease-subtype +Orphanet:93579 Atypical hemolytic-uremic syndrome with H factor anomaly 01-disease-subtype +Orphanet:93580 Atypical hemolytic-uremic syndrome with I factor anomaly 01-disease-subtype +Orphanet:93581 Atypical hemolytic-uremic syndrome with anti-factor H antibodies 01-disease-subtype +Orphanet:93587 Familial cystic renal disease 03-disease-area +Orphanet:93589 Late-onset nephronophthisis 01-disease-subtype +Orphanet:93591 Infantile nephronophthisis 01-disease-subtype +Orphanet:93592 Juvenile nephronophthisis 01-disease-subtype +Orphanet:93593 Nephropathy secondary to a storage or other metabolic disease 03-disease-area +Orphanet:93594 Alpha-1-antichymotrypsin deficiency 02-disease-root +Orphanet:93598 Primary hyperoxaluria type 1 01-disease-subtype +Orphanet:93599 Primary hyperoxaluria type 2 01-disease-subtype +Orphanet:93600 Primary hyperoxaluria type 3 01-disease-subtype +Orphanet:93601 Xanthinuria type I 01-disease-subtype +Orphanet:93602 Xanthinuria type II 01-disease-subtype +Orphanet:93606 Nephrogenic syndrome of inappropriate antidiuresis 02-disease-root +Orphanet:93607 Autosomal recessive proximal renal tubular acidosis 01-disease-subtype +Orphanet:93608 Autosomal dominant distal renal tubular acidosis 01-disease-subtype +Orphanet:93610 Distal renal tubular acidosis with anemia 01-disease-subtype +Orphanet:93612 Cystinuria type A 01-disease-subtype +Orphanet:93613 Cystinuria type B 01-disease-subtype +Orphanet:93614 Hematological disorder with renal involvement 03-disease-area +Orphanet:93616 Hemoglobin H disease 01-disease-subtype +Orphanet:93921 Neurofibromatosis type 3 01-disease-subtype +Orphanet:93924 Lobar holoprosencephaly 01-disease-subtype +Orphanet:93925 Alobar holoprosencephaly 01-disease-subtype +Orphanet:93926 Midline interhemispheric variant of holoprosencephaly 01-disease-subtype +Orphanet:93928 Epispadias 01-disease-subtype +Orphanet:93929 Cloacal exstrophy 01-disease-subtype +Orphanet:93930 Bladder exstrophy 01-disease-subtype +Orphanet:93937 Terminal transverse defects of arm 01-disease-subtype +Orphanet:93946 Hamel cerebro-palato-cardiac syndrome 01-disease-subtype +Orphanet:93947 X-linked intellectual disability, Golabi-Ito-Hall type 01-disease-subtype +Orphanet:93951 X-linked dominant intellectual disability - epilepsy syndrome 01-disease-subtype +Orphanet:93952 X-linked intellectual disability, Hedera type 01-disease-subtype +Orphanet:93955 Benign essential blepharospasm 01-disease-subtype +Orphanet:93956 Truncal dystonia 01-disease-subtype +Orphanet:93957 Limb dystonia 01-disease-subtype +Orphanet:93958 Oromandibular dystonia 01-disease-subtype +Orphanet:93964 Blepharospasm - oromandibular dystonia 01-disease-subtype +Orphanet:93969 Myelomeningocele 01-disease-subtype +Orphanet:93976 Anotia 02-disease-root +Orphanet:94056 Humero-ulnar synostosis 02-disease-root +Orphanet:94061 Macrocephaly - immune deficiency - anemia 02-disease-root +Orphanet:94064 Deafness-infertility syndrome 01-disease-subtype +Orphanet:94065 15q24 microdeletion syndrome 01-disease-subtype +Orphanet:94066 Severe intellectual disability - epilepsy - anal anomalies - distal phalangeal hypoplasia 02-disease-root +Orphanet:94068 Spondyloepiphyseal dysplasia congenita 01-disease-subtype +Orphanet:94086 Blue diaper syndrome 01-disease-subtype +Orphanet:94088 Hereditary renal hypouricemia 02-disease-root +Orphanet:94089 Pseudohypoparathyroidism type 1B 01-disease-subtype +Orphanet:94090 Pseudohypoparathyroidism type 2 01-disease-subtype +Orphanet:94095 Spondylocostal dysostosis - anal and genitourinary malformations 01-disease-subtype +Orphanet:94122 Cerebellar ataxia, Cayman type 01-disease-subtype +Orphanet:94124 Spinocerebellar ataxia type 1 with axonal neuropathy 01-disease-subtype +Orphanet:94125 Recessive mitochondrial ataxia syndrome 01-disease-subtype +Orphanet:94145 Autosomal dominant cerebellar ataxia type 1 01-disease-subtype +Orphanet:94147 Spinocerebellar ataxia type 7 01-disease-subtype +Orphanet:94148 Autosomal dominant cerebellar ataxia type 3 01-disease-subtype +Orphanet:94149 Autosomal dominant cerebellar ataxia type 4 01-disease-subtype +Orphanet:94150 Anonychia congenita totalis 01-disease-subtype +Orphanet:943 Malonic aciduria 01-disease-subtype +Orphanet:946 Acrocephalosyndactyly 01-disease-subtype +Orphanet:949 Acrocraniofacial dysostosis 01-disease-subtype +Orphanet:950 Acrodysostosis 01-disease-subtype +Orphanet:95157 Acute hepatic porphyria 01-disease-subtype +Orphanet:95159 Hepatoerythropoietic porphyria 01-disease-subtype +Orphanet:95161 Chronic hepatic porphyria 01-disease-subtype +Orphanet:952 Acrofacial dysostosis, Weyers type 01-disease-subtype +Orphanet:95232 Lissencephaly due to LIS1 mutation 01-disease-subtype +Orphanet:95429 Angioma serpiginosum 02-disease-root +Orphanet:95430 Congenital tracheomalacia 01-disease-subtype +Orphanet:95433 Autosomal recessive cerebellar ataxia - blindness - deafness 01-disease-subtype +Orphanet:95434 Autosomal recessive cerebellar ataxia - saccadic intrusion 01-disease-subtype +Orphanet:95488 Non-acquired pituitary hormone deficiency 03-disease-area +Orphanet:95494 Combined pituitary hormone deficiencies, genetic forms 01-disease-subtype +Orphanet:95495 Disease associated with non-acquired combined pituitary hormone deficiency 01-disease-subtype +Orphanet:95496 Pituitary stalk interruption syndrome 02-disease-root +Orphanet:955 Acroosteolysis dominant type 01-disease-subtype +Orphanet:956 Acro-pectoro-renal dysplasia 02-disease-root +Orphanet:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency 01-disease-subtype +Orphanet:957 Acropectorovertebral dysplasia 02-disease-root +Orphanet:95700 Familial adrenal hypoplasia with absent pituitary luteinizing hormone 01-disease-subtype +Orphanet:95702 Cytomegalic congenital adrenal hypoplasia 01-disease-subtype +Orphanet:95710 Non-acquired premature ovarian failure 03-disease-area +Orphanet:95711 Congenital hypothyroidism due to developmental anomaly 01-disease-subtype +Orphanet:95712 Thyroid ectopia 01-disease-subtype +Orphanet:95713 Athyreosis 01-disease-subtype +Orphanet:95714 Primary congenital hypothyroidism without thyroid developmental anomaly 01-disease-subtype +Orphanet:95716 Familial thyroid dyshormonogenesis 01-disease-subtype +Orphanet:95719 Thyroid hemiagenesis 01-disease-subtype +Orphanet:95720 Thyroid hypoplasia 01-disease-subtype +Orphanet:958 Acro-renal-mandibular syndrome 02-disease-root +Orphanet:96 Ataxia with vitamin E deficiency 01-disease-subtype +Orphanet:96055 Tetrasomy 21 02-disease-root +Orphanet:96059 Mosaic trisomy 4 01-disease-subtype +Orphanet:96060 Mosaic trisomy 5 01-disease-subtype +Orphanet:96061 Mosaic trisomy 8 01-disease-subtype +Orphanet:96063 Mosaic trisomy 10 01-disease-subtype +Orphanet:96068 Mosaic trisomy 22 01-disease-subtype +Orphanet:96069 Distal trisomy 1p36 01-disease-subtype +Orphanet:96070 Distal trisomy 2p 01-disease-subtype +Orphanet:96071 Distal trisomy 3p 01-disease-subtype +Orphanet:96074 Distal trisomy 7p 01-disease-subtype +Orphanet:96078 16p13.3 microduplication syndrome 01-disease-subtype +Orphanet:96094 Distal trisomy 2q 01-disease-subtype +Orphanet:96096 Distal trisomy 4q 01-disease-subtype +Orphanet:96097 Distal trisomy 5q 01-disease-subtype +Orphanet:96098 Distal trisomy 6q 01-disease-subtype +Orphanet:96100 Distal trisomy 8q 01-disease-subtype +Orphanet:96101 Distal trisomy 9q 01-disease-subtype +Orphanet:96102 Distal trisomy 10q 01-disease-subtype +Orphanet:96103 Distal trisomy 11q 01-disease-subtype +Orphanet:96105 Distal trisomy 13q 01-disease-subtype +Orphanet:96106 Distal trisomy 16q 01-disease-subtype +Orphanet:96107 Distal trisomy 20q 01-disease-subtype +Orphanet:96109 Distal trisomy 22q 01-disease-subtype +Orphanet:96112 Non-distal trisomy 9q 01-disease-subtype +Orphanet:96123 Monosomy 22 01-disease-subtype +Orphanet:96126 Distal monosomy 7p 01-disease-subtype +Orphanet:96129 Distal monosomy 19p13.3 01-disease-subtype +Orphanet:96136 Non-distal monosomy 7p 01-disease-subtype +Orphanet:96145 Distal monosomy 4q 01-disease-subtype +Orphanet:96149 Distal monosomy 12q 01-disease-subtype +Orphanet:96150 Distal monosomy 14q 01-disease-subtype +Orphanet:96152 Distal monosomy 20q 01-disease-subtype +Orphanet:96160 Non-distal monosomy 12q 01-disease-subtype +Orphanet:96164 Non-distal monosomy 20q 01-disease-subtype +Orphanet:96167 Recombinant 8 syndrome 01-disease-subtype +Orphanet:96168 Monosomy 13q34 01-disease-subtype +Orphanet:96169 Koolen-De Vries syndrome 02-disease-root +Orphanet:96171 Ring chromosome 2 01-disease-subtype +Orphanet:96172 Ring chromosome 3 01-disease-subtype +Orphanet:96173 Ring chromosome 9 01-disease-subtype +Orphanet:96175 Ring chromosome 11 01-disease-subtype +Orphanet:96176 Ring chromosome 13 01-disease-subtype +Orphanet:96177 Ring chromosome 15 01-disease-subtype +Orphanet:96178 Ring chromosome 16 01-disease-subtype +Orphanet:96179 Maternal uniparental disomy of chromosome 2 01-disease-subtype +Orphanet:96180 Maternal uniparental disomy of chromosome 4 01-disease-subtype +Orphanet:96181 Maternal uniparental disomy of chromosome 6 01-disease-subtype +Orphanet:96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 01-disease-subtype +Orphanet:96183 Maternal uniparental disomy of chromosome 9 01-disease-subtype +Orphanet:96184 Maternal uniparental disomy of chromosome 14 01-disease-subtype +Orphanet:96185 Maternal uniparental disomy of chromosome 16 01-disease-subtype +Orphanet:96186 Maternal uniparental disomy of chromosome 20 01-disease-subtype +Orphanet:96187 Maternal uniparental disomy of chromosome 21 01-disease-subtype +Orphanet:96188 Maternal uniparental disomy of chromosome 22 01-disease-subtype +Orphanet:96190 Paternal uniparental disomy of chromosome 5 01-disease-subtype +Orphanet:96191 Paternal uniparental disomy of chromosome 6 01-disease-subtype +Orphanet:96192 Paternal uniparental disomy of chromosome 7 01-disease-subtype +Orphanet:96194 Paternal uniparental disomy of chromosome 20 01-disease-subtype +Orphanet:96195 Paternal uniparental disomy of chromosome 21 01-disease-subtype +Orphanet:96210 Rare genetic deafness 03-disease-area +Orphanet:96321 Polyploidy 02-disease-root +Orphanet:96325 Isochromosome Y 01-disease-subtype +Orphanet:96333 Rare otorhinolaryngological malformation 03-disease-area +Orphanet:96334 Paternal uniparental disomy of chromosome 14 01-disease-subtype +Orphanet:96346 Anorectal malformation 03-disease-area +Orphanet:965 Acromegaloid facial appearance syndrome 02-disease-root +Orphanet:966 Hypertrichosis-acromegaloid facial appearance syndrome 01-disease-subtype +Orphanet:968 Acromesomelic dysplasia, Hunter-Thomson type 01-disease-subtype +Orphanet:969 Acromicric dysplasia 01-disease-subtype +Orphanet:97 Familial paroxysmal ataxia 02-disease-root +Orphanet:970 Hereditary sensory and autonomic neuropathy type 2 01-disease-subtype +Orphanet:971 Acrorenal syndrome 02-disease-root +Orphanet:97120 Distal arthrogryposis 02-disease-root +Orphanet:972 Hereditary continuous muscle fiber activity 02-disease-root +Orphanet:97229 Riboflavin transporter deficiency 01-disease-subtype +Orphanet:97231 Ligneous conjunctivitis 01-disease-subtype +Orphanet:97232 Fingerprint body myopathy 01-disease-subtype +Orphanet:97234 Glycogen storage disease due to phosphoglycerate mutase deficiency 02-disease-root +Orphanet:97238 Rippling muscle disease 01-disease-subtype +Orphanet:97239 Reducing body myopathy 01-disease-subtype +Orphanet:97240 Zebra body myopathy 01-disease-subtype +Orphanet:97242 Congenital muscular dystrophy 01-disease-subtype +Orphanet:97244 Rigid spine syndrome 01-disease-subtype +Orphanet:97245 Congenital myopathy 02-disease-root +Orphanet:97249 Pontocerebellar hypoplasia type 3 01-disease-subtype +Orphanet:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia 01-disease-subtype +Orphanet:973 Congenital absence/hypoplasia of fingers excluding thumb, unilateral 01-disease-subtype +Orphanet:97361 Unilateral renal hypoplasia 01-disease-subtype +Orphanet:97362 Bilateral renal hypoplasia 01-disease-subtype +Orphanet:97363 Unilateral multicystic dysplastic kidney 01-disease-subtype +Orphanet:97364 Bilateral multicystic dysplastic kidney 01-disease-subtype +Orphanet:97369 Renal tubular dysgenesis of genetic origin 02-disease-root +Orphanet:97548 Ivemark syndrome 02-disease-root +Orphanet:97555 Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy 01-disease-subtype +Orphanet:97556 Congenital and infantile nephrotic syndrome 02-disease-root +Orphanet:97593 Pseudohypoparathyroidism 02-disease-root +Orphanet:976 Adenine phosphoribosyltransferase deficiency 01-disease-subtype +Orphanet:97678 Maternal uniparental disomy of chromosome 13 01-disease-subtype +Orphanet:97685 17q11 microdeletion syndrome 01-disease-subtype +Orphanet:977 Adrenomyodystrophy 02-disease-root +Orphanet:97927 Peripheral resistance to thyroid hormones 01-disease-subtype +Orphanet:97944 Gastroduodenal malformation 02-disease-root +Orphanet:97945 Intestinal malformation 02-disease-root +Orphanet:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay 01-disease-subtype +Orphanet:98054 Rare genetic cardiac disease 03-disease-area +Orphanet:98056 Rare genetic renal disease 03-disease-area +Orphanet:98074 Gonadal dysgenesis of gynecological interest 02-disease-root +Orphanet:98086 46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue 01-disease-subtype +Orphanet:98087 Syndrome with 46,XY disorder of sex development 02-disease-root +Orphanet:98095 Autosomal recessive congenital cerebellar ataxia 01-disease-subtype +Orphanet:98096 Autosomal recessive metabolic cerebellar ataxia 01-disease-subtype +Orphanet:98097 Autosomal recessive cerebellar ataxia due to a DNA repair defect 01-disease-subtype +Orphanet:98098 Autosomal recessive degenerative and progressive cerebellar ataxia 01-disease-subtype +Orphanet:98099 Autosomal recessive syndromic cerebellar ataxia 01-disease-subtype +Orphanet:98127 Autosomal anomaly 03-disease-area +Orphanet:98130 Autosomal trisomy 03-disease-area +Orphanet:98131 Total autosomal trisomy 02-disease-root +Orphanet:98132 Partial autosomal trisomy/tetrasomy 03-disease-area +Orphanet:98141 Total autosomal monosomy 02-disease-root +Orphanet:98142 Partial autosomal monosomy 02-disease-root +Orphanet:98152 Autosomal uniparental disomy 03-disease-area +Orphanet:98153 Uniparental disomy of maternal origin 02-disease-root +Orphanet:98154 Uniparental disomy of paternal origin 02-disease-root +Orphanet:98155 Gonosome anomaly 03-disease-area +Orphanet:98156 Gonosome number anomaly 02-disease-root +Orphanet:98157 Gonosome structural anomaly 02-disease-root +Orphanet:98158 Chromosome Y structural anomaly 01-disease-subtype +Orphanet:98159 Chromosome X structural anomaly 01-disease-subtype +Orphanet:98196 Malformation syndrome with hamartosis 03-disease-area +Orphanet:98203 Combined dystonia 02-disease-root +Orphanet:98257 Neonatal epilepsy syndrome 01-disease-subtype +Orphanet:98258 Infantile epilepsy syndrome 01-disease-subtype +Orphanet:98259 Childhood-onset epilepsy syndrome 03-disease-area +Orphanet:98260 Adolescent-onset epilepsy syndrome 03-disease-area +Orphanet:98261 Progressive myoclonic epilepsy 03-disease-area +Orphanet:98267 Genetic non-syndromic obesity 02-disease-root +Orphanet:983 Testicular regression syndrome 01-disease-subtype +Orphanet:98305 Genetic lipodystrophy 02-disease-root +Orphanet:98306 Familial partial lipodystrophy 01-disease-subtype +Orphanet:98313 Male infertility due to gonadal dysgenesis 01-disease-subtype +Orphanet:98349 Autosomal dominant isolated diffuse palmoplantar keratoderma 01-disease-subtype +Orphanet:98352 Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature 01-disease-subtype +Orphanet:98353 Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature 01-disease-subtype +Orphanet:98356 Autosomal recessive isolated diffuse palmoplantar keratoderma 01-disease-subtype +Orphanet:98357 Autosomal recessive disease with focal palmoplantar keratoderma as a major feature 01-disease-subtype +Orphanet:98360 Constitutional anemia due to iron metabolism disorder 02-disease-root +Orphanet:98362 Constitutional sideroblastic anemia 02-disease-root +Orphanet:98364 Rare constitutional hemolytic anemia due to a red cell membrane anomaly 02-disease-root +Orphanet:98365 Hereditary stomatocytosis 03-disease-area +Orphanet:98366 Constitutional hemolytic anemia due to acanthocytosis 01-disease-subtype +Orphanet:98369 Rare constitutional hemolytic anemia due to an enzyme disorder 02-disease-root +Orphanet:98370 Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies 01-disease-subtype +Orphanet:98372 Hemolytic anemia due to a disorder of glycolytic enzymes 01-disease-subtype +Orphanet:98374 Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder 01-disease-subtype +Orphanet:98396 Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder 02-disease-root +Orphanet:98408 Constitutional megaloblastic anemia due to folate metabolism disorder 02-disease-root +Orphanet:98415 Vitamin B12- and folate-independent constitutional megaloblastic anemia 02-disease-root +Orphanet:98428 Secondary polycythemia 01-disease-subtype +Orphanet:98434 Hereditary combined deficiency of vitamin K-dependent clotting factors 01-disease-subtype +Orphanet:98454 Platelet storage pool disease 01-disease-subtype +Orphanet:98455 Alpha granule disease 01-disease-subtype +Orphanet:98456 Dense granule disease 01-disease-subtype +Orphanet:98473 Muscular dystrophy 02-disease-root +Orphanet:98486 Metabolic myopathy 03-disease-area +Orphanet:98495 Genetic neuromuscular junction disease 02-disease-root +Orphanet:98497 Genetic peripheral neuropathy 03-disease-area +Orphanet:98505 Genetic motor neuron disease 03-disease-area +Orphanet:98518 Cranial nerve and nuclear aplasia 02-disease-root +Orphanet:98523 Non-syndromic pontocerebellar hypoplasia 01-disease-subtype +Orphanet:98538 Ataxia with dementia 03-disease-area +Orphanet:98539 Early-onset ataxia with dementia 03-disease-area +Orphanet:98540 Late-onset ataxia with dementia 03-disease-area +Orphanet:98543 Metabolic disease with dementia 02-disease-root +Orphanet:98554 Major induction processes eye anomaly 02-disease-root +Orphanet:98557 Syndromic aniridia 01-disease-subtype +Orphanet:98560 Rare palpebral disease 03-disease-area +Orphanet:98561 Eyelid malformation 03-disease-area +Orphanet:98562 Cryptophthalmia 02-disease-root +Orphanet:98563 Microblepharon - ablephara 02-disease-root +Orphanet:98564 Eyelid border anomaly 02-disease-root +Orphanet:98565 Syndromic ankyloblepharon 01-disease-subtype +Orphanet:98566 Syndromic palpebral coloboma 01-disease-subtype +Orphanet:98567 Eyelids malposition disorder 03-disease-area +Orphanet:98568 Congenital entropion 03-disease-area +Orphanet:98569 Secondary entropion 02-disease-root +Orphanet:98570 Congenital ectropion 02-disease-root +Orphanet:98571 Secondary ectropion 02-disease-root +Orphanet:98572 Canthal anomaly 02-disease-root +Orphanet:98573 Epicanthal fold 01-disease-subtype +Orphanet:98574 Syndromic epicanthus 01-disease-subtype +Orphanet:98575 Telecanthus 01-disease-subtype +Orphanet:98576 Malposition of external canthus 01-disease-subtype +Orphanet:98577 Kinetic eyelid anomaly 03-disease-area +Orphanet:98578 Ptosis 03-disease-area +Orphanet:98579 Congenital upper palpebral retraction 02-disease-root +Orphanet:98580 Palpebral tumor 02-disease-root +Orphanet:98583 Precancerous lesion of palpebral epidermis 01-disease-subtype +Orphanet:98584 Malignant tumor of palpebral epidermis 01-disease-subtype +Orphanet:98585 Palpebral sebaceous gland tumor 01-disease-subtype +Orphanet:98586 Pigmented palpebral tumor 01-disease-subtype +Orphanet:98587 Palpebral lentiginosis 01-disease-subtype +Orphanet:98588 Palpebral nevus 01-disease-subtype +Orphanet:98589 Palpebral malignant melanoma 01-disease-subtype +Orphanet:98590 Palpebral piliary tumor 01-disease-subtype +Orphanet:98591 Mesenchymatous palpebral tumor 01-disease-subtype +Orphanet:98592 Palpebral tumor with a vascular malformation 01-disease-subtype +Orphanet:98593 Neurogenic palpebral tumor 01-disease-subtype +Orphanet:98594 Rare eyebrow/eyelashes anomaly 03-disease-area +Orphanet:98595 Eyebrow/eyelashes hypertrichosis 02-disease-root +Orphanet:98596 Eyebrow hypertrophy 02-disease-root +Orphanet:98597 Eyelashes hypertrophy 02-disease-root +Orphanet:98598 Congenital absence of the eyebrow/eyelashes 02-disease-root +Orphanet:98599 Eyebrow/eyelashes structural anomaly 02-disease-root +Orphanet:98600 Eyebrow/eyelashes distichiasis 02-disease-root +Orphanet:98601 Eyebrow/eyelashes pigmentation anomaly 02-disease-root +Orphanet:98602 Rare lacrimal system disease 02-disease-root +Orphanet:98603 Secretory apparatus of the lacrimal system anomaly 01-disease-subtype +Orphanet:98604 Congenital alacrima 01-disease-subtype +Orphanet:98605 Excretory apparatus of the lacrimal system anomaly 01-disease-subtype +Orphanet:98606 Syndromic orbital border hypoplasia 01-disease-subtype +Orphanet:98608 Anomaly of the secretory and excretory apparatus of the lacrimal system 01-disease-subtype +Orphanet:98610 Rare conjunctival disease 02-disease-root +Orphanet:98611 Conjunctival vascular anomaly 03-disease-area +Orphanet:98612 Conjunctival hemangioma or hemolymphangioma 02-disease-root +Orphanet:98613 Conjunctival telangiectasia 02-disease-root +Orphanet:98614 Conjunctival lymphangiectasia 02-disease-root +Orphanet:98615 Pigmented conjunctival lesion 01-disease-subtype +Orphanet:98616 Conjunctival tumor 03-disease-area +Orphanet:98617 Bulbar conjunctival dermoid or conjunctival dermolipoma 02-disease-root +Orphanet:98619 Rare isolated myopia 02-disease-root +Orphanet:98620 Syndromic myopia 03-disease-area +Orphanet:98621 Rare hyperopia and astigmatism 02-disease-root +Orphanet:98622 Syndromic hyperopia 01-disease-subtype +Orphanet:98623 Syndromic keratoconus 01-disease-subtype +Orphanet:98625 Superficial corneal dystrophy 02-disease-root +Orphanet:98626 Stromal corneal dystrophy 02-disease-root +Orphanet:98627 Posterior corneal dystrophy 02-disease-root +Orphanet:98628 Syndromic corneal dystrophy 02-disease-root +Orphanet:98631 Secondary dysgenetic glaucoma 03-disease-area +Orphanet:98632 Glaucoma associated with neural crest cell migration anomaly 02-disease-root +Orphanet:98633 Goniodysgenesis 01-disease-subtype +Orphanet:98634 Iridogoniodysgenesis 01-disease-subtype +Orphanet:98635 Corneogoniodysgenesis 01-disease-subtype +Orphanet:98636 Corneoiridogoniodysgenesis 01-disease-subtype +Orphanet:98637 Secondary glaucoma due to a proliferation and differentiation anomaly 02-disease-root +Orphanet:98638 Rare disease with glaucoma as a major feature 03-disease-area +Orphanet:98640 Rare cataract 03-disease-area +Orphanet:98641 Syndromic cataract 03-disease-area +Orphanet:98643 Systemic disease with cataract 03-disease-area +Orphanet:98644 Cataract associated with a metabolic disease 02-disease-root +Orphanet:98645 Cerebral disease with cataract 02-disease-root +Orphanet:98646 Renal disease with cataract 02-disease-root +Orphanet:98647 Cardiac disease with cataract 02-disease-root +Orphanet:98648 Musculoskeletal disease with cataract 02-disease-root +Orphanet:98649 Dentocutaneous disease with cataract 02-disease-root +Orphanet:98650 Craniofacial anomaly with cataract 02-disease-root +Orphanet:98652 Lens size anomaly 02-disease-root +Orphanet:98653 Lens position anomaly 02-disease-root +Orphanet:98655 Lens shape anomaly 02-disease-root +Orphanet:98657 Genetic vitreous-retinal disease 03-disease-area +Orphanet:98658 Color-vision disease 02-disease-root +Orphanet:98661 Syndromic retinitis pigmentosa 02-disease-root +Orphanet:98662 Unclassified familial retinal dystrophy 02-disease-root +Orphanet:98664 Genetic macular dystrophy 02-disease-root +Orphanet:98666 Unclassified primitive or secondary maculopathy 03-disease-area +Orphanet:98667 Disease predisposing to age-related macular degeneration 02-disease-root +Orphanet:98668 Vitreoretinopathy 02-disease-root +Orphanet:98669 Congenital vitreoretinal dysplasia 01-disease-subtype +Orphanet:98670 Vitreoretinal degeneration 03-disease-area +Orphanet:98671 Optic neuropathy 02-disease-root +Orphanet:98672 Autosomal dominant optic atrophy 01-disease-subtype +Orphanet:98673 Autosomal dominant optic atrophy, classic type 01-disease-subtype +Orphanet:98675 Autosomal recessive optic atrophy 01-disease-subtype +Orphanet:98676 Autosomal recessive isolated optic atrophy 01-disease-subtype +Orphanet:98681 Rare strabismus and restriction syndrome 03-disease-area +Orphanet:98682 Essential strabismus 02-disease-root +Orphanet:98683 Syndrome with a symptomatic strabismus 02-disease-root +Orphanet:98684 Craniostenosis associated with a strabismus 01-disease-subtype +Orphanet:98685 Oculomotor palsy 03-disease-area +Orphanet:98686 Congenital trochlear nerve palsy 01-disease-subtype +Orphanet:98687 Supranuclear oculomotor palsy 02-disease-root +Orphanet:98688 Oculomotor apraxia or related oculomotor disease 02-disease-root +Orphanet:98689 Myopathy with eye involvement 02-disease-root +Orphanet:98690 Myasthenic syndrome with eye involvement 01-disease-subtype +Orphanet:98693 Spinocerebellar ataxia with oculomotor anomaly 02-disease-root +Orphanet:98694 Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly 02-disease-root +Orphanet:98695 Mitochondrial disease with eye involvement 02-disease-root +Orphanet:98696 Genodermatosis with ocular features 03-disease-area +Orphanet:98697 Genetic keratinization disorder associated with ocular features 02-disease-root +Orphanet:98698 Ichthyosis associated with ocular features 01-disease-subtype +Orphanet:98700 Pigmentation disorder with eye involvement 03-disease-area +Orphanet:98701 Phakomatosis with eye involvement 02-disease-root +Orphanet:98702 Connective tissue disease with eye involvement 03-disease-area +Orphanet:98703 Disease with potential neoplastic degeneration associated with ocular features 02-disease-root +Orphanet:98704 Onycho-patellar syndrome with eye involvement 02-disease-root +Orphanet:98706 Oculocutaneous or ocular albinism 03-disease-area +Orphanet:98708 Pigmentation disorder with eye involvement, excluding albinism 02-disease-root +Orphanet:98709 Ectodermal malformation syndrome associated with ocular features 02-disease-root +Orphanet:98710 Metabolic disease associated with ocular features 03-disease-area +Orphanet:98711 Metabolic disease with corneal opacity 02-disease-root +Orphanet:98712 Metabolic disease with cataract 02-disease-root +Orphanet:98713 Metabolic disease with pigmentary retinitis 03-disease-area +Orphanet:98714 Metabolic disease with macular cherry-red spot 02-disease-root +Orphanet:98755 Spinocerebellar ataxia type 1 01-disease-subtype +Orphanet:98756 Spinocerebellar ataxia type 2 01-disease-subtype +Orphanet:98757 Spinocerebellar ataxia type 3 01-disease-subtype +Orphanet:98758 Spinocerebellar ataxia type 6 01-disease-subtype +Orphanet:98759 Spinocerebellar ataxia type 17 01-disease-subtype +Orphanet:98760 Spinocerebellar ataxia type 8 01-disease-subtype +Orphanet:98761 Spinocerebellar ataxia type 10 01-disease-subtype +Orphanet:98762 Spinocerebellar ataxia type 12 01-disease-subtype +Orphanet:98763 Spinocerebellar ataxia type 14 01-disease-subtype +Orphanet:98764 Spinocerebellar ataxia type 27 01-disease-subtype +Orphanet:98765 Spinocerebellar ataxia type 4 01-disease-subtype +Orphanet:98766 Spinocerebellar ataxia type 5 01-disease-subtype +Orphanet:98767 Spinocerebellar ataxia type 11 01-disease-subtype +Orphanet:98768 Spinocerebellar ataxia type 13 01-disease-subtype +Orphanet:98769 Spinocerebellar ataxia type 15/16 01-disease-subtype +Orphanet:98771 Spinocerebellar ataxia type 18 01-disease-subtype +Orphanet:98772 Spinocerebellar ataxia type 19/22 01-disease-subtype +Orphanet:98773 Spinocerebellar ataxia type 21 01-disease-subtype +Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy 01-disease-subtype +Orphanet:98791 Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16 01-disease-subtype +Orphanet:98797 Isochromosomy Yp 01-disease-subtype +Orphanet:98798 Isochromosomy Yq 01-disease-subtype +Orphanet:988 Absent tibia - polydactyly 02-disease-root +Orphanet:98805 Primary dystonia, DYT4 type 01-disease-subtype +Orphanet:98806 Primary dystonia, DYT6 type 01-disease-subtype +Orphanet:98807 Primary dystonia, DYT13 type 01-disease-subtype +Orphanet:98811 Paroxysmal exertion-induced dyskinesia 01-disease-subtype +Orphanet:98813 Hypohidrotic ectodermal dysplasia with immunodeficiency 02-disease-root +Orphanet:98815 Benign childhood occipital epilepsy, Panayiotopoulos type 01-disease-subtype +Orphanet:98816 Benign childhood occipital epilepsy, Gastaut type 01-disease-subtype +Orphanet:98820 Familial focal epilepsy with variable foci 01-disease-subtype +Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy 01-disease-subtype +Orphanet:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy 01-disease-subtype +Orphanet:98868 Southeast Asian ovalocytosis 02-disease-root +Orphanet:98869 Congenital dyserythropoietic anemia type I 01-disease-subtype +Orphanet:98870 Congenital dyserythropoietic anemia type III 01-disease-subtype +Orphanet:98873 Congenital dyserythropoietic anemia type II 01-disease-subtype +Orphanet:98878 Hemophilia A 02-disease-root +Orphanet:98879 Hemophilia B 01-disease-subtype +Orphanet:98880 Familial afibrinogenemia 01-disease-subtype +Orphanet:98881 Familial dysfibrinogenemia 01-disease-subtype +Orphanet:98885 Bleeding diathesis due to glycoprotein VI deficiency 01-disease-subtype +Orphanet:98889 Bilateral perisylvian polymicrogyria 01-disease-subtype +Orphanet:98890 Early-onset X-linked optic atrophy 02-disease-root +Orphanet:98892 Periventricular nodular heterotopia 01-disease-subtype +Orphanet:98893 Congenital muscular dystrophy type 1B 01-disease-subtype +Orphanet:989 Hypoglossia - hypodactyly 01-disease-subtype +Orphanet:98902 Amish nemaline myopathy 01-disease-subtype +Orphanet:98904 Congenital myopathy with excess of thin filaments 01-disease-subtype +Orphanet:98905 Congenital multicore myopathy with external ophthalmoplegia 01-disease-subtype +Orphanet:98908 Neutral lipid storage myopathy 01-disease-subtype +Orphanet:98909 Desminopathy 01-disease-subtype +Orphanet:98910 Alpha-crystallinopathy 01-disease-subtype +Orphanet:98911 Distal myotilinopathy 01-disease-subtype +Orphanet:98912 Late-onset distal myopathy, Markesbery-Griggs type 01-disease-subtype +Orphanet:98913 Postsynaptic congenital myasthenic syndromes 01-disease-subtype +Orphanet:98914 Presynaptic congenital myasthenic syndromes 01-disease-subtype +Orphanet:98915 Synaptic congenital myasthenic syndromes 01-disease-subtype +Orphanet:98920 Spinal muscular atrophy with respiratory distress type 1 01-disease-subtype +Orphanet:98941 Von Hippel anomaly 01-disease-subtype +Orphanet:98942 Coloboma of choroid and retina 02-disease-root +Orphanet:98943 Coloboma of eye lens 02-disease-root +Orphanet:98944 Coloboma of iris 02-disease-root +Orphanet:98945 Coloboma of macula 02-disease-root +Orphanet:98946 Coloboma of eyelid 01-disease-subtype +Orphanet:98947 Coloboma of optic papilla 02-disease-root +Orphanet:98948 Congenital symblepharon 01-disease-subtype +Orphanet:98949 Complete cryptophthalmia 01-disease-subtype +Orphanet:98950 Partial cryptophthalmia 01-disease-subtype +Orphanet:98951 Inverse Marcus-Gunn phenomenon 01-disease-subtype +Orphanet:98956 Microcystic corneal dystrophy 01-disease-subtype +Orphanet:98957 Gelatinous drop-like corneal dystrophy 01-disease-subtype +Orphanet:98958 Honey-droplet corneal dystrophy 01-disease-subtype +Orphanet:98959 Subepithelial mucinous corneal dystrophy 01-disease-subtype +Orphanet:98961 Reis-Bücklers corneal dystrophy 01-disease-subtype +Orphanet:98962 Granular corneal dystrophy type I 01-disease-subtype +Orphanet:98963 Granular corneal dystrophy type II 01-disease-subtype +Orphanet:98964 Lattice corneal dystrophy type I 01-disease-subtype +Orphanet:98969 Macular corneal dystrophy 01-disease-subtype +Orphanet:98970 Fleck corneal dystrophy 01-disease-subtype +Orphanet:98971 Posterior amorphous corneal dystrophy 01-disease-subtype +Orphanet:98972 Central cloudy dystrophy of Francois 01-disease-subtype +Orphanet:98973 Posterior polymorphous corneal dystrophy 01-disease-subtype +Orphanet:98974 Fuchs endothelial corneal dystrophy 01-disease-subtype +Orphanet:98975 Congenital hereditary endothelial dystrophy type I 01-disease-subtype +Orphanet:98976 Congenital glaucoma 01-disease-subtype +Orphanet:98977 Juvenile glaucoma 01-disease-subtype +Orphanet:98981 Essential iris atrophy 01-disease-subtype +Orphanet:98984 Pulverulent cataract 01-disease-subtype +Orphanet:98985 Cataract with Y-shaped suture opacities 01-disease-subtype +Orphanet:98988 Anterior polar cataract 01-disease-subtype +Orphanet:98989 Cerulean cataract 01-disease-subtype +Orphanet:98990 Coralliform cataract 01-disease-subtype +Orphanet:98992 Partial congenital cataract 01-disease-subtype +Orphanet:98993 Posterior polar cataract 01-disease-subtype +Orphanet:98994 Total congenital cataract 01-disease-subtype +Orphanet:99 Autosomal dominant cerebellar ataxia 01-disease-subtype +Orphanet:990 Agnathia - holoprosencephaly - situs inversus 02-disease-root +Orphanet:99000 Adult-onset foveomacular vitelliform dystrophy 01-disease-subtype +Orphanet:99001 Butterfly-shaped pigment dystrophy 01-disease-subtype +Orphanet:99002 Reticular dystrophy of the retinal pigment epithelium 01-disease-subtype +Orphanet:99003 Multifocal pattern dystrophy simulating fundus flavimaculatus 01-disease-subtype +Orphanet:99004 Fundus pulverulentus 01-disease-subtype +Orphanet:99013 Autosomal recessive spastic paraplegia type 7 01-disease-subtype +Orphanet:99014 X-linked Charcot-Marie-Tooth disease type 5 01-disease-subtype +Orphanet:99015 Spastic paraplegia type 2 01-disease-subtype +Orphanet:99027 Adult-onset autosomal dominant leukodystrophy 01-disease-subtype +Orphanet:99042 Congenitally uncorrected transposition of the great arteries with coarctation 01-disease-subtype +Orphanet:99044 Double outlet right ventricle with subaortic ventricular septal defect 01-disease-subtype +Orphanet:99045 Double outlet right ventricle with subpulmonary ventricular septal defect 01-disease-subtype +Orphanet:99046 Double outlet right ventricle with non-committed subpulmonary ventricular septal defect 01-disease-subtype +Orphanet:99047 Double outlet right ventricle with doubly committed ventricular septal defect 01-disease-subtype +Orphanet:99092 Interventricular septum aneurysm 01-disease-subtype +Orphanet:99095 Gerbode defect 01-disease-subtype +Orphanet:99096 Multiple ventricular septal defects 01-disease-subtype +Orphanet:99097 Single ventricular septal defect 01-disease-subtype +Orphanet:99103 Atrial septal defect, ostium secundum type 01-disease-subtype +Orphanet:99104 Atrial septal defect, coronary sinus type 01-disease-subtype +Orphanet:99105 Atrial septal defect, sinus venosus type 01-disease-subtype +Orphanet:99106 Atrial septal defect, ostium primum type 01-disease-subtype +Orphanet:99138 Hemolytic anemia due to erythrocyte adenosine deaminase overproduction 01-disease-subtype +Orphanet:99169 Epiblepharon 02-disease-root +Orphanet:99170 Tarsal kink syndrome 02-disease-root +Orphanet:99171 Isolated congenital ectropion 01-disease-subtype +Orphanet:99172 Euryblepharon 01-disease-subtype +Orphanet:99176 Congenital eyelid retraction 01-disease-subtype +Orphanet:99177 Isolated distichiasis 01-disease-subtype +Orphanet:99226 Monosomy X 01-disease-subtype +Orphanet:99228 Mosaic monosomy X 01-disease-subtype +Orphanet:99324 Paternal uniparental disomy of chromosome 13 01-disease-subtype +Orphanet:99361 Familial medullary thyroid carcinoma 01-disease-subtype +Orphanet:994 Fetal akinesia deformation sequence 02-disease-root +Orphanet:99429 Complete androgen insensitivity syndrome 01-disease-subtype +Orphanet:99642 Spondyloepimetaphyseal dysplasia, Handigodu type 02-disease-root +Orphanet:99645 Dappled diaphyseal dysplasia 01-disease-subtype +Orphanet:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria 01-disease-subtype +Orphanet:99647 Cheirospondyloenchondromatosis 01-disease-subtype +Orphanet:99688 Dermotrichic syndrome 02-disease-root +Orphanet:99701 Mesial temporal lobe epilepsy with hippocampal sclerosis 01-disease-subtype +Orphanet:99706 Progeria-associated arthropathy 02-disease-root +Orphanet:99723 Familial esophageal achalasia 02-disease-root +Orphanet:99731 Isolated sulfite oxidase deficiency 01-disease-subtype +Orphanet:99732 Sulfite oxidase deficiency due to molybdenum cofactor deficiency 01-disease-subtype +Orphanet:99734 Myotonia fluctuans 01-disease-subtype +Orphanet:99735 Myotonia permanens 01-disease-subtype +Orphanet:99736 Acetazolamide-responsive myotonia 01-disease-subtype +Orphanet:99739 Rare familial disorder with hypertrophic cardiomyopathy 03-disease-area +Orphanet:99750 Atypical progressive supranuclear palsy 01-disease-subtype +Orphanet:99763 Familial hyperreninemic hypoaldosteronism type 1 01-disease-subtype +Orphanet:99764 Familial hyperreninemic hypoaldosteronism type 2 01-disease-subtype +Orphanet:99776 Mosaic trisomy 9 01-disease-subtype +Orphanet:99789 Dentin dysplasia type I 01-disease-subtype +Orphanet:99791 Dentin dysplasia type II 01-disease-subtype +Orphanet:99792 Dentin dysplasia - sclerotic bones 02-disease-root +Orphanet:99796 Subcortical band heterotopia 02-disease-root +Orphanet:99797 Anodontia 01-disease-subtype +Orphanet:998 Albinism-deafness syndrome 01-disease-subtype +Orphanet:99802 Hemimegalencephaly 02-disease-root +Orphanet:99806 Oculootodental syndrome 01-disease-subtype +Orphanet:99807 PEHO-like syndrome 01-disease-subtype +Orphanet:99810 Familial porencephaly 01-disease-subtype +Orphanet:99811 Neuronal intestinal pseudoobstruction 01-disease-subtype +Orphanet:99812 LIG4 syndrome 01-disease-subtype +Orphanet:99817 Non-polyposis Turcot syndrome 01-disease-subtype +Orphanet:99819 Familial gestational hyperthyroidism 01-disease-subtype +Orphanet:99832 Resistance to thyrotropin-releasing hormone syndrome 01-disease-subtype +Orphanet:99842 Leukocyte adhesion deficiency type I 01-disease-subtype +Orphanet:99843 Leukocyte adhesion deficiency type II 01-disease-subtype +Orphanet:99844 Leukocyte adhesion deficiency type III 01-disease-subtype +Orphanet:99845 Genetic recurrent myoglobinuria 01-disease-subtype +Orphanet:99846 Autosomal dominant myoglobinuria 02-disease-root +Orphanet:99849 Glycogen storage disease due to muscle beta-enolase deficiency 02-disease-root +Orphanet:99852 RAVINE syndrome 02-disease-root +Orphanet:99853 Ovarioleukodystrophy 01-disease-subtype +Orphanet:99856 Primary syringomyelia 02-disease-root +Orphanet:99858 Idiopathic syringomyelia 01-disease-subtype +Orphanet:99877 Familial parathyroid adenoma 01-disease-subtype +Orphanet:99878 Primary parathyroids hyperplasia 01-disease-subtype +Orphanet:99879 Familial isolated hyperparathyroidism 01-disease-subtype +Orphanet:99880 Hyperparathyroidism-jaw tumor syndrome 01-disease-subtype +Orphanet:99886 Transient neonatal diabetes mellitus 01-disease-subtype +Orphanet:99898 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency 02-disease-root +Orphanet:999 Ermine phenotype 02-disease-root +Orphanet:99900 Long chain acyl-CoA dehydrogenase deficiency 01-disease-subtype +Orphanet:99901 Acyl-CoA dehydrogenase 9 deficiency 01-disease-subtype +Orphanet:99936 Autosomal dominant Charcot-Marie-Tooth disease type 2B 01-disease-subtype +Orphanet:99937 Autosomal dominant Charcot-Marie-Tooth disease type 2C 01-disease-subtype +Orphanet:99938 Autosomal dominant Charcot-Marie-Tooth disease type 2D 01-disease-subtype +Orphanet:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E 01-disease-subtype +Orphanet:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F 01-disease-subtype +Orphanet:99942 Autosomal dominant Charcot-Marie-Tooth disease type 2I 01-disease-subtype +Orphanet:99943 Autosomal dominant Charcot-Marie-Tooth disease type 2J 01-disease-subtype +Orphanet:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K 01-disease-subtype +Orphanet:99945 Autosomal dominant Charcot-Marie-Tooth disease type 2L 01-disease-subtype +Orphanet:99946 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 01-disease-subtype +Orphanet:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 01-disease-subtype +Orphanet:99960 Benign recurrent intrahepatic cholestasis type 1 01-disease-subtype +Orphanet:99961 Benign recurrent intrahepatic cholestasis type 2 01-disease-subtype +Orphanet:99989 Intermediate DEND syndrome 01-disease-subtype +OTAR:0000003 cyst 02-disease-root +OTAR:0000006 musculoskeletal or connective tissue disease 03-disease-area +OTAR:0000009 injury, poisoning or other complication 04-non-disease +OTAR:0000010 respiratory or thoracic disease 03-disease-area +OTAR:0000014 pregnancy or perinatal disease 03-disease-area +OTAR:0000017 reproductive system or breast disease 03-disease-area +OTAR:0000018 genetic, familial or congenital disease 03-disease-area +OTAR:0000019 familial disease 03-disease-area +OTAR:0000020 nutritional or metabolic disease 03-disease-area