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align_doid_efo.tbl
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efo EFO:0000094 B-cell acute lymphoblastic leukemia DOID:7061 precursor B lymphoblastic lymphoma/leukemia
efo EFO:0000095 chronic lymphocytic leukemia DOID:1040 chronic lymphocytic leukemia
efo EFO:0000174 Ewing sarcoma DOID:0050608 Askin's tumor
efo EFO:0000174 Ewing sarcoma DOID:3369 peripheral primitive neuroectodermal tumor
efo EFO:0000178 gastric carcinoma DOID:9138 stomach carcinoma in situ
efo EFO:0000182 hepatocellular carcinoma DOID:3571 liver cancer
efo EFO:0000182 hepatocellular carcinoma DOID:684 hepatocellular carcinoma
efo EFO:0000183 Hodgkins lymphoma DOID:11335 sarcoidosis
efo EFO:0000183 Hodgkins lymphoma DOID:8567 Hodgkin's lymphoma
efo EFO:0000183 Hodgkins lymphoma DOID:8651 Hodgkin's granuloma
efo EFO:0000183 Hodgkins lymphoma DOID:8654 Hodgkin's lymphoma, mixed cellularity
efo EFO:0000186 invasive ductal carcinoma DOID:3008 invasive ductal carcinoma
efo EFO:0000195 metabolic syndrome DOID:14221 metabolic syndrome X
efo EFO:0000200 plasma cell neoplasm DOID:6536 plasma cell neoplasm
efo EFO:0000203 monoclonal gammopathy DOID:7442 monoclonal gammopathy of uncertain significance
efo EFO:0000209 T-cell acute lymphoblastic leukemia DOID:0050523 adult T-cell leukemia
efo EFO:0000209 T-cell acute lymphoblastic leukemia DOID:5603 acute T cell leukemia
efo EFO:0000216 acinar cell carcinoma DOID:3025 acinar cell carcinoma
efo EFO:0000217 active gastritis DOID:4029 gastritis
efo EFO:0000220 acute lymphoblastic leukemia DOID:1037 lymphoblastic leukemia
efo EFO:0000220 acute lymphoblastic leukemia DOID:9952 acute lymphocytic leukemia
efo EFO:0000221 acute monocytic leukemia DOID:8864 acute monocytic leukemia
efo EFO:0000222 acute myeloid leukemia DOID:9119 acute myeloid leukemia
efo EFO:0000228 adenocarcinoma DOID:299 adenocarcinoma
efo EFO:0000231 adenoid cystic carcinoma DOID:4866 adenoid cystic carcinoma
efo EFO:0000232 adenoma DOID:657 adenoma
efo EFO:0000233 adenosquamous lung carcinoma DOID:4829 adenosquamous cell lung carcinoma
efo EFO:0000239 adrenal gland pheochromocytoma DOID:0050771 phaeochromocytoma
efo EFO:0000248 alveolar rhabdomyosarcoma DOID:4051 alveolar rhabdomyosarcoma
efo EFO:0000249 Alzheimer's disease DOID:10652 Alzheimer's disease
efo EFO:0000253 amyotrophic lateral sclerosis DOID:332 amyotrophic lateral sclerosis
efo EFO:0000266 aortic stenosis DOID:1712 aortic valve stenosis
efo EFO:0000270 asthma DOID:2841 asthma
efo EFO:0000272 astrocytoma DOID:3069 astrocytoma
efo EFO:0000274 atopic eczema DOID:3310 atopic dermatitis
efo EFO:0000278 pancreatitis DOID:4989 pancreatitis
efo EFO:0000279 azoospermia DOID:14227 azoospermia
efo EFO:0000280 Barrett's esophagus DOID:9206 Barrett's esophagus
efo EFO:0000284 benign prostatic hyperplasia DOID:11132 prostatic hypertrophy
efo EFO:0000284 benign prostatic hyperplasia DOID:2883 prostatic adenoma
efo EFO:0000289 bipolar disorder DOID:3312 bipolar disorder
efo EFO:0000292 bladder carcinoma DOID:4007 bladder carcinoma
efo EFO:0000294 bladder tumor DOID:11054 urinary bladder cancer
efo EFO:0000304 breast adenocarcinoma DOID:3458 breast adenocarcinoma
efo EFO:0000305 breast carcinoma DOID:3459 breast carcinoma
efo EFO:0000308 bronchoalveolar adenocarcinoma DOID:4926 bronchiolo-alveolar adenocarcinoma
efo EFO:0000309 Burkitts lymphoma DOID:8584 Burkitt's lymphoma
efo EFO:0000311 cancer DOID:162 cancer
efo EFO:0000313 carcinoma DOID:305 carcinoma
efo EFO:0000318 cardiomyopathy DOID:0050700 cardiomyopathy
efo EFO:0000319 cardiovascular disease DOID:1287 cardiovascular system disease
efo EFO:0000326 central nervous system cancer DOID:3620 central nervous system cancer
efo EFO:0000331 chondroblastoma DOID:2649 chondroblastoma
efo EFO:0000333 chondrosarcoma DOID:3371 chondrosarcoma
efo EFO:0000335 chromophobe renal cell carcinoma DOID:4471 chromophobe adenocarcinoma
efo EFO:0000337 chronic gastritis DOID:4029 gastritis
efo EFO:0000339 chronic myelogenous leukemia DOID:8552 chronic myeloid leukemia
efo EFO:0000341 chronic obstructive pulmonary disease DOID:3083 chronic obstructive pulmonary disease
efo EFO:0000348 clear cell adenocarcinoma DOID:4468 clear cell adenocarcinoma
efo EFO:0000349 clear cell renal carcinoma DOID:4467 renal clear cell carcinoma
efo EFO:0000350 clear cell sarcoma of the kidney DOID:4880 kidney clear cell sarcoma
efo EFO:0000364 colon mucinous adenocarcinoma DOID:3029 colon mucinous adenocarcinoma
efo EFO:0000365 colorectal adenocarcinoma DOID:1520 colon carcinoma
efo EFO:0000365 colorectal adenocarcinoma DOID:219 colon cancer
efo EFO:0000365 colorectal adenocarcinoma DOID:234 colon adenocarcinoma
efo EFO:0000365 colorectal adenocarcinoma DOID:9256 colorectal cancer
efo EFO:0000373 congestive heart failure DOID:6000 congestive heart failure
efo EFO:0000378 coronary artery disease DOID:3363 coronary arteriosclerosis
efo EFO:0000378 coronary artery disease DOID:3393 coronary heart disease
efo EFO:0000384 Crohn's disease DOID:8778 Crohn's disease
efo EFO:0000389 cutaneous melanoma DOID:4159 skin cancer
efo EFO:0000389 cutaneous melanoma DOID:8923 skin melanoma
efo EFO:0000398 dermatomyositis DOID:10223 dermatomyositis
efo EFO:0000400 diabetes mellitus DOID:9351 diabetes mellitus
efo EFO:0000401 diabetic nephropathy DOID:11503 diabetic autonomic neuropathy
efo EFO:0000401 diabetic nephropathy DOID:12785 diabetic polyneuropathy
efo EFO:0000401 diabetic nephropathy DOID:9743 diabetic neuropathy
efo EFO:0000402 diffuse gastric adenocarcinoma DOID:6217 gastric diffuse adenocarcinoma
efo EFO:0000403 diffuse large B-cell lymphoma DOID:0050745 diffuse large B-cell lymphoma
efo EFO:0000403 diffuse large B-cell lymphoma DOID:8538 reticulosarcoma
efo EFO:0000404 diffuse scleroderma DOID:1580 diffuse scleroderma
efo EFO:0000404 diffuse scleroderma DOID:418 systemic scleroderma
efo EFO:0000405 digestive system disease DOID:5295 intestinal disease
efo EFO:0000405 digestive system disease DOID:77 gastrointestinal system disease
efo EFO:0000407 dilated cardiomyopathy DOID:12930 dilated cardiomyopathy
efo EFO:0000408 disease DOID:4 disease
efo EFO:0000430 ductal adenocarcinoma DOID:3008 invasive ductal carcinoma
efo EFO:0000432 ductal carcinoma in situ DOID:0060074 ductal carcinoma in situ
efo EFO:0000437 embryonal rhabdomyosarcoma DOID:3246 embryonal rhabdomyosarcoma
efo EFO:0000464 emphysema DOID:9675 pulmonary emphysema
efo EFO:0000465 endocarditis DOID:10314 endocarditis
efo EFO:0000466 endometrioid carcinoma DOID:2871 endometrial carcinoma
efo EFO:0000478 esophageal adenocarcinoma DOID:4914 esophagus adenocarcinoma
efo EFO:0000479 essential thrombocythemia DOID:2224 hemorrhagic thrombocythemia
efo EFO:0000499 follicular thyroid adenoma DOID:3172 papillary adenoma
efo EFO:0000499 follicular thyroid adenoma DOID:5403 microcystic adenoma
efo EFO:0000499 follicular thyroid adenoma DOID:6204 follicular adenoma
efo EFO:0000500 ganglioneuroma DOID:2426 gangliocytoma
efo EFO:0000500 ganglioneuroma DOID:4817 ganglioneuroma
efo EFO:0000501 follicular thyroid carcinoma DOID:3962 follicular thyroid carcinoma
efo EFO:0000502 ganglioneuroblastoma DOID:4163 ganglioneuroblastoma
efo EFO:0000503 gastric adenocarcinoma DOID:3717 gastric adenocarcinoma
efo EFO:0000508 genetic disorder DOID:0050325 genetic disorder
efo EFO:0000512 reproductive system disease DOID:15 reproductive system disease
efo EFO:0000514 germ cell tumor DOID:2994 germ cell cancer
efo EFO:0000514 germ cell tumor DOID:3304 germinoma
efo EFO:0000514 germ cell tumor DOID:688 embryonal cancer
efo EFO:0000516 glaucoma DOID:1686 glaucoma
efo EFO:0000519 glioblastoma multiforme DOID:3068 glioblastoma
efo EFO:0000519 glioblastoma multiforme DOID:3074 giant cell glioblastoma
efo EFO:0000519 glioblastoma multiforme DOID:4992 optic nerve glioma
efo EFO:0000529 hereditary spastic paraplegia DOID:2476 hereditary spastic paraplegia
efo EFO:0000537 hypertension DOID:10763 hypertension
efo EFO:0000538 hypertrophic cardiomyopathy DOID:11984 hypertrophic cardiomyopathy
efo EFO:0000540 immune system disease DOID:2914 immune system disease
efo EFO:0000545 infertility DOID:5223 infertility
efo EFO:0000549 insulinoma DOID:3892 insulinoma
efo EFO:0000553 invasive lobular carcinoma DOID:3457 invasive lobular carcinoma
efo EFO:0000555 irritable bowel syndrome DOID:9778 irritable bowel syndrome
efo EFO:0000556 ischemia DOID:326 ischemia
efo EFO:0000557 juvenile dermatomyositis DOID:14203 childhood type dermatomyositis
efo EFO:0000558 Kaposi's sarcoma DOID:8632 Kaposi's sarcoma
efo EFO:0000559 keratinizing squamous cell carcinoma DOID:5521 keratinizing squamous cell carcinoma
efo EFO:0000563 large cell neuroendocrine carcinoma DOID:6658 pulmonary large cell neuroendocrine carcinoma
efo EFO:0000564 leiomyosarcoma DOID:1967 leiomyosarcoma
efo EFO:0000565 leukemia DOID:1240 leukemia
efo EFO:0000569 liposarcoma DOID:3382 liposarcoma
efo EFO:0000571 lung adenocarcinoma DOID:3910 lung adenocarcinoma
efo EFO:0000574 lymphoma DOID:0060058 lymphoma
efo EFO:0000574 lymphoma DOID:8675 lymphosarcoma
efo EFO:0000580 medullary breast carcinoma DOID:5605 breast medullary carcinoma
efo EFO:0000588 mesothelioma DOID:1790 malignant mesothelioma
efo EFO:0000588 mesothelioma DOID:2645 benign mesothelioma
efo EFO:0000589 metabolic disease DOID:0014667 disease of metabolism
efo EFO:0000595 monophasic synovial sarcoma DOID:5495 monophasic synovial sarcoma
efo EFO:0000612 myocardial infarction DOID:5844 myocardial infarction
efo EFO:0000613 myxoid liposarcoma DOID:5363 myxoid liposarcoma
efo EFO:0000614 narcolepsy DOID:8986 narcolepsy
efo EFO:0000618 nervous system disease DOID:863 nervous system disease
efo EFO:0000621 neuroblastoma DOID:769 neuroblastoma
efo EFO:0000622 neurofibroma DOID:1192 peripheral nervous system neoplasm
efo EFO:0000622 neurofibroma DOID:3193 peripheral nerve sheath neoplasm
efo EFO:0000622 neurofibroma DOID:962 neurofibroma
efo EFO:0000630 oligoastrocytoma DOID:3183 childhood oligodendroglioma
efo EFO:0000630 oligoastrocytoma DOID:3186 adult oligodendroglioma
efo EFO:0000630 oligoastrocytoma DOID:7912 mixed oligodendroglioma-astrocytoma
efo EFO:0000632 oligodendroglioma DOID:3181 oligodendroglioma
efo EFO:0000637 osteosarcoma DOID:3347 osteosarcoma
efo EFO:0000639 papillary cystadenocarcinoma DOID:3110 papillary cystadenocarcinoma
efo EFO:0000640 papillary renal cell carcinoma DOID:4465 papillary renal cell carcinoma
efo EFO:0000641 papillary thyroid carcinoma DOID:3969 papillary thyroid carcinoma
efo EFO:0000649 periodontitis DOID:824 periodontitis
efo EFO:0000650 whooping cough DOID:1116 pertussis
efo EFO:0000653 phyllodes tumor DOID:1631 benign breast phyllodes tumor
efo EFO:0000653 phyllodes tumor DOID:3016 breast malignant phyllodes tumor
efo EFO:0000658 plexiform neurofibroma DOID:5151 plexiform neurofibroma
efo EFO:0000660 polycystic ovary syndrome DOID:11612 polycystic ovary syndrome
efo EFO:0000666 portal hypertension DOID:10762 portal hypertension
efo EFO:0000668 preeclampsia DOID:10591 pre-eclampsia
efo EFO:0000673 prostate adenocarcinoma DOID:2526 prostate adenocarcinoma
efo EFO:0000676 psoriasis DOID:8893 psoriasis
efo EFO:0000677 mental or behavioural disorder DOID:11328 schizophreniform disorder
efo EFO:0000677 mental or behavioural disorder DOID:2468 psychotic disorder
efo EFO:0000677 mental or behavioural disorder DOID:5418 schizoaffective disorder
efo EFO:0000678 pterygium DOID:0002116 pterygium
efo EFO:0000678 pterygium DOID:10526 conjunctival pterygium
efo EFO:0000681 renal cell carcinoma DOID:4450 renal cell carcinoma
efo EFO:0000681 renal cell carcinoma DOID:4451 renal carcinoma
efo EFO:0000681 renal cell carcinoma DOID:4464 collecting duct carcinoma
efo EFO:0000684 respiratory system disease DOID:1579 respiratory system disease
efo EFO:0000685 rheumatoid arthritis DOID:7148 rheumatoid arthritis
efo EFO:0000691 sarcoma DOID:1115 sarcoma
efo EFO:0000692 schizophrenia DOID:5419 schizophrenia
efo EFO:0000693 schwannoma DOID:12689 acoustic neuroma
efo EFO:0000693 schwannoma DOID:3192 neurilemmoma
efo EFO:0000693 schwannoma DOID:3196 cellular schwannoma
efo EFO:0000693 schwannoma DOID:3206 plexiform schwannoma
efo EFO:0000693 schwannoma DOID:955 benign neurilemmoma
efo EFO:0000694 severe acute respiratory syndrome DOID:2945 severe acute respiratory syndrome
efo EFO:0000698 signet ring cell carcinoma DOID:3493 signet ring cell adenocarcinoma
efo EFO:0000699 Sjogren syndrome DOID:12894 Sjogren's syndrome
efo EFO:0000699 Sjogren syndrome DOID:12900 Mikulicz disease
efo EFO:0000701 skin disease DOID:37 skin disease
efo EFO:0000702 small cell lung carcinoma DOID:5409 lung small cell carcinoma
efo EFO:0000702 small cell lung carcinoma DOID:5411 lung oat cell carcinoma
efo EFO:0000705 spindle cell tumor DOID:264 hemangiopericytoma
efo EFO:0000706 spondyloarthropathy DOID:1123 spondyloarthropathy
efo EFO:0000707 squamous cell carcinoma DOID:1749 squamous cell carcinoma
efo EFO:0000708 squamous cell lung carcinoma DOID:3907 lung squamous cell carcinoma
efo EFO:0000712 stroke DOID:3455 cerebrovascular accident
efo EFO:0000717 systemic scleroderma DOID:418 systemic scleroderma
efo EFO:0000717 systemic scleroderma DOID:419 scleroderma
efo EFO:0000729 ulcerative colitis DOID:8577 ulcerative colitis
efo EFO:0000731 uterine fibroid DOID:13223 uterine fibroid
efo EFO:0000734 vitamin B12 deficiency DOID:0050731 vitamin B12 deficiency
efo EFO:0000756 melanoma DOID:1909 melanoma
efo EFO:0000759 lipoma DOID:3315 lipoma
efo EFO:0000760 malignant peripheral nerve sheath tumor DOID:1192 peripheral nervous system neoplasm
efo EFO:0000760 malignant peripheral nerve sheath tumor DOID:3193 peripheral nerve sheath neoplasm
efo EFO:0000760 malignant peripheral nerve sheath tumor DOID:3512 neurofibrosarcoma
efo EFO:0000760 malignant peripheral nerve sheath tumor DOID:5940 malignant peripheral nerve sheath tumor
efo EFO:0000760 malignant peripheral nerve sheath tumor DOID:8353 epithelioid malignant peripheral nerve sheath tumor
efo EFO:0000763 viral disease DOID:934 viral infectious disease
efo EFO:0000764 HIV infection DOID:526 Human immunodeficiency virus infectious disease
efo EFO:0000765 AIDS DOID:635 acquired immunodeficiency syndrome
efo EFO:0000768 idiopathic pulmonary fibrosis DOID:0050156 idiopathic pulmonary fibrosis
efo EFO:0000770 malignant pleural mesothelioma DOID:7474 malignant pleural mesothelioma
efo EFO:0000773 temporal lobe epilepsy DOID:3328 temporal lobe epilepsy
efo EFO:0000775 Whipple's disease DOID:8476 Whipple disease
efo EFO:0000777 human granulocytic anaplasmosis DOID:0050025 human granulocytic anaplasmosis
efo EFO:0000778 anthrax infection DOID:7427 anthrax disease
efo EFO:0000783 myositis DOID:633 myositis
efo EFO:0001054 leprosy DOID:1024 leprosy
efo EFO:0001055 borderline leprosy DOID:1023 borderline leprosy
efo EFO:0001056 tuberculoid leprosy DOID:1025 tuberculoid leprosy
efo EFO:0001057 lepromatous leprosy DOID:10887 lepromatous leprosy
efo EFO:0001058 sensory system disease DOID:0050155 sensory system disease
efo EFO:0001059 cataract DOID:83 cataract
efo EFO:0001060 celiac disease DOID:10608 celiac disease
efo EFO:0001061 cervical carcinoma DOID:2893 cervix carcinoma
efo EFO:0001061 cervical carcinoma DOID:4362 cervical cancer
efo EFO:0001065 endometriosis DOID:289 endometriosis
efo EFO:0001067 parasitic Infection DOID:1398 parasitic infectious disease
efo EFO:0001068 malaria DOID:12365 malaria
efo EFO:0001069 nutritional disorder DOID:374 nutrition disease
efo EFO:0001071 lung carcinoma DOID:3905 lung carcinoma
efo EFO:0001073 obesity DOID:9970 obesity
efo EFO:0001074 morbid obesity DOID:11981 morbid obesity
efo EFO:0001075 ovarian carcinoma DOID:4001 ovarian carcinoma
efo EFO:0001358 post-traumatic stress disorder DOID:2055 post-traumatic stress disorder
efo EFO:0001359 type I diabetes mellitus DOID:1837 diabetic ketoacidosis
efo EFO:0001359 type I diabetes mellitus DOID:9744 type 1 diabetes mellitus
efo EFO:0001360 type II diabetes mellitus DOID:0050524 maturity-onset diabetes of the young
efo EFO:0001360 type II diabetes mellitus DOID:9352 type 2 diabetes mellitus
efo EFO:0001361 pulmonary hypertension DOID:6432 pulmonary hypertension
efo EFO:0001365 age-related macular degeneration DOID:10871 age related macular degeneration
efo EFO:0001376 synovial sarcoma DOID:5485 synovial sarcoma
efo EFO:0001378 multiple myeloma DOID:9538 multiple myeloma
efo EFO:0001379 endocrine system disease DOID:28 endocrine system disease
efo EFO:0001380 hypopituitarism DOID:9406 hypopituitarism
efo EFO:0001380 hypopituitarism DOID:9410 panhypopituitarism
efo EFO:0001380 hypopituitarism DOID:9476 Sheehan syndrome
efo EFO:0001416 cervical adenocarcinoma DOID:2893 cervix carcinoma
efo EFO:0001416 cervical adenocarcinoma DOID:3702 cervical adenocarcinoma
efo EFO:0001416 cervical adenocarcinoma DOID:4362 cervical cancer
efo EFO:0001421 liver disease DOID:409 liver disease
efo EFO:0001422 cirrhosis of liver DOID:5082 liver cirrhosis
efo EFO:0001423 encephalomyelitis DOID:640 encephalomyelitis
efo EFO:0001642 lymphoid neoplasm DOID:2531 hematologic cancer
efo EFO:0001642 lymphoid neoplasm DOID:8538 reticulosarcoma
efo EFO:0001645 coronary heart disease DOID:3393 coronary heart disease
efo EFO:0001663 prostate carcinoma DOID:10286 prostate carcinoma
efo EFO:0001666 aortic aneurysm DOID:3627 aortic aneurysm
efo EFO:0002087 fibrosarcoma DOID:3355 fibrosarcoma
efo EFO:0002422 benign neoplasm DOID:0060072 benign neoplasm
efo EFO:0002429 polycythemia vera DOID:8997 polycythemia vera
efo EFO:0002430 primary myelofibrosis DOID:4971 myelofibrosis
efo EFO:0002431 tumour of cranial and spinal nerves DOID:1192 peripheral nervous system neoplasm
efo EFO:0002496 actinic keratosis DOID:8866 actinic keratosis
efo EFO:0002506 osteoarthritis DOID:8398 osteoarthritis
efo EFO:0002508 Parkinson's disease DOID:14330 Parkinson's disease
efo EFO:0002509 progressive external ophthalmoplegia DOID:12558 chronic progressive external ophthalmoplegia
efo EFO:0002510 serous cystadenofibroma DOID:7320 ovarian serous cystadenofibroma
efo EFO:0002517 pancreatic ductal adenocarcinoma DOID:3498 pancreatic ductal adenocarcinoma
efo EFO:0002609 chronic childhood arthritis DOID:676 juvenile rheumatoid arthritis
efo EFO:0002609 chronic childhood arthritis DOID:6776 breast myoepithelial carcinoma
efo EFO:0002610 cocaine dependence DOID:9975 cocaine dependence
efo EFO:0002616 macroglobulinemia DOID:9080 macroglobulinemia
efo EFO:0002618 pancreatic carcinoma DOID:1793 pancreatic cancer
efo EFO:0002618 pancreatic carcinoma DOID:4905 pancreatic carcinoma
efo EFO:0002626 thymus neoplasm DOID:3277 thymus cancer
efo EFO:0002628 peripartum cardiomyopathy DOID:9997 peripartum cardiomyopathy
efo EFO:0002630 restrictive cardiomyopathy DOID:397 restrictive cardiomyopathy
efo EFO:0002689 primary antiphospholipid syndrome DOID:2988 antiphospholipid syndrome
efo EFO:0002690 systemic lupus erythematosus DOID:9074 systemic lupus erythematosus
efo EFO:0002890 renal carcinoma DOID:263 kidney cancer
efo EFO:0002890 renal carcinoma DOID:4451 renal carcinoma
efo EFO:0002890 renal carcinoma DOID:4464 collecting duct carcinoma
efo EFO:0002892 thyroid carcinoma DOID:1781 thyroid cancer
efo EFO:0002892 thyroid carcinoma DOID:3963 thyroid carcinoma
efo EFO:0002893 choriocarcinoma DOID:3594 choriocarcinoma
efo EFO:0002894 amelanotic skin melanoma DOID:10054 skin amelanotic melanoma
efo EFO:0002913 Cutaneous T-cell lymphoma DOID:0060061 cutaneous T cell lymphoma
efo EFO:0002916 esophageal carcinoma DOID:1107 esophageal carcinoma
efo EFO:0002916 esophageal carcinoma DOID:5041 esophageal cancer
efo EFO:0002918 rhabdomyosarcoma DOID:3247 rhabdomyosarcoma
efo EFO:0002921 vulvar carcinoma DOID:1294 vulva carcinoma
efo EFO:0002938 hypopharyngeal carcinoma DOID:8533 hypopharynx cancer
efo EFO:0002939 medulloblastoma DOID:3858 medulloblastoma
efo EFO:0002970 muscular disease DOID:0080000 muscular disease
efo EFO:0003014 breast fibrocystic disease DOID:10354 breast fibrocystic disease
efo EFO:0003016 collecting duct carcinoma DOID:4464 collecting duct carcinoma
efo EFO:0003017 transitional cell carcinoma of kidney DOID:5974 renal pelvis transitional cell carcinoma
efo EFO:0003017 transitional cell carcinoma of kidney DOID:6844 kidney pelvis sarcomatoid transitional cell carcinoma
efo EFO:0003025 acute megakaryoblastic leukaemia DOID:876 pyomyositis
efo EFO:0003032 anaplastic large cell lymphoma DOID:0050744 anaplastic large cell lymphoma
efo EFO:0003035 cellulitis DOID:3488 cellulitis
efo EFO:0003047 hepatitis C infection DOID:1883 hepatitis C
efo EFO:0003050 large cell lung carcinoma DOID:4556 lung large cell carcinoma
efo EFO:0003060 non-small cell lung carcinoma DOID:3908 non-small cell lung carcinoma
efo EFO:0003073 asymptomatic myeloma DOID:9551 smoldering myeloma
efo EFO:0003083 pleomorphic liposarcoma DOID:5702 pleomorphic liposarcoma
efo EFO:0003084 round cell liposarcoma DOID:5692 cellular myxoid liposarcoma
efo EFO:0003086 kidney disease DOID:557 kidney disease
efo EFO:0003093 adrenocortical carcinoma DOID:3948 adrenocortical carcinoma
efo EFO:0003094 ganglioglioma DOID:5078 ganglioglioma
efo EFO:0003096 Pick disease DOID:11870 Pick's disease
efo EFO:0003096 Pick disease DOID:9255 frontotemporal dementia
efo EFO:0003097 empyema DOID:3798 pleural empyema
efo EFO:0003099 Cushing syndrome DOID:12252 Cushing's syndrome
efo EFO:0003100 peripheral neuropathy DOID:0060053 peripheral neuropathy
efo EFO:0003101 testicular seminoma DOID:5842 testis seminoma
efo EFO:0003102 osteomyelitis DOID:1019 osteomyelitis
efo EFO:0003105 spina bifida DOID:0080016 spina bifida
efo EFO:0003106 pneumonia DOID:552 pneumonia
efo EFO:0003114 pauciarticular juvenile rheumatoid arthritis DOID:6755 amyloid tumor
efo EFO:0003114 pauciarticular juvenile rheumatoid arthritis DOID:676 juvenile rheumatoid arthritis
efo EFO:0003144 heart failure DOID:6000 congestive heart failure
efo EFO:0003756 autism spectrum disorder DOID:0060040 pervasive developmental disorder
efo EFO:0003756 autism spectrum disorder DOID:0060041 autism spectrum disorder
efo EFO:0003757 Asperger syndrome DOID:0050432 Asperger syndrome
efo EFO:0003758 autism DOID:12849 autistic disorder
efo EFO:0003759 pervasive developmental disorder - not otherwise specified DOID:0060042 atypical autism
efo EFO:0003761 unipolar depression DOID:1470 major depressive disorder
efo EFO:0003761 unipolar depression DOID:1595 endogenous depression
efo EFO:0003761 unipolar depression DOID:2848 melancholia
efo EFO:0003763 cerebrovascular disorder DOID:6713 cerebrovascular disease
efo EFO:0003764 transient ischemic attack DOID:224 transient cerebral ischemia
efo EFO:0003767 inflammatory bowel disease DOID:0050589 inflammatory bowel disease
efo EFO:0003767 inflammatory bowel disease DOID:9778 irritable bowel syndrome
efo EFO:0003768 nicotine dependence DOID:0050742 nicotine dependence
efo EFO:0003769 endocrine neoplasm DOID:170 endocrine gland cancer
efo EFO:0003770 diabetic retinopathy DOID:8947 diabetic retinopathy
efo EFO:0003775 Job's syndrome DOID:3261 Job's syndrome
efo EFO:0003777 heart disease DOID:114 heart disease
efo EFO:0003778 psoriatic arthritis DOID:9008 psoriatic arthritis
efo EFO:0003779 autoimmune thyroid disease DOID:7188 autoimmune thyroiditis
efo EFO:0003780 Behcet's syndrome DOID:13241 Behcet's disease
efo EFO:0003781 carotid artery disease DOID:3407 carotid artery disease
efo EFO:0003782 motor neuron disease DOID:231 motor neuron disease
efo EFO:0003783 progressive bulbar palsy DOID:681 progressive bulbar palsy
efo EFO:0003785 allergy DOID:1205 hypersensitivity reaction type I disease
efo EFO:0003817 laryngeal neoplasm DOID:2596 larynx cancer
efo EFO:0003817 laryngeal neoplasm DOID:2598 laryngeal benign neoplasm
efo EFO:0003817 laryngeal neoplasm DOID:2600 laryngeal carcinoma
efo EFO:0003818 lung disease DOID:850 lung disease
efo EFO:0003819 dental caries DOID:216 dental caries
efo EFO:0003820 bone neoplasm DOID:184 bone cancer
efo EFO:0003821 migraine disorder DOID:6364 migraine
efo EFO:0003824 eye neoplasm DOID:2174 ocular cancer
efo EFO:0003825 serous adenocarsinoma DOID:3114 serous cystadenocarcinoma
efo EFO:0003826 salivary gland neoplasm DOID:8850 salivary gland cancer
efo EFO:0003827 pulmonary embolism DOID:9477 pulmonary embolism
efo EFO:0003828 spinal cord neoplasm DOID:5612 spinal cancer
efo EFO:0003829 alcohol dependence DOID:0050741 alcohol dependence
efo EFO:0003830 prostatitis DOID:14654 prostatitis
efo EFO:0003832 gall bladder disease DOID:0000000 gallbladder disease
efo EFO:0003833 brain neoplasm DOID:1319 brain cancer
efo EFO:0003834 cutaneous lupus erythematosus DOID:0050169 cutaneous lupus erythematosus
efo EFO:0003835 anal neoplasm DOID:14110 anus cancer
efo EFO:0003835 anal neoplasm DOID:4551 anus neoplasm
efo EFO:0003840 chronic progressive multiple sclerosis DOID:2376 chronic progressive multiple sclerosis
efo EFO:0003841 thyroid neoplasm DOID:1781 thyroid cancer
efo EFO:0003841 thyroid neoplasm DOID:2891 thyroid adenoma
efo EFO:0003844 ureteral neoplasm DOID:11819 ureter cancer
efo EFO:0003845 kidney stone DOID:585 nephrolithiasis
efo EFO:0003846 urethral neoplasm DOID:730 urethral benign neoplasm
efo EFO:0003846 urethral neoplasm DOID:734 urethra cancer
efo EFO:0003847 mental retardation DOID:1059 intellectual disability
efo EFO:0003850 adrenal gland neoplasm DOID:3953 adrenal gland cancer
efo EFO:0003851 meningeal neoplasm DOID:3565 meningioma
efo EFO:0003859 uterine neoplasm DOID:363 uterine cancer
efo EFO:0003860 pancreatic neoplasm DOID:1793 pancreatic cancer
efo EFO:0003862 dementia DOID:1307 dementia
efo EFO:0003865 kidney neoplasm DOID:263 kidney cancer
efo EFO:0003866 paranasal sinus neoplasm DOID:1350 paranasal sinus neoplasm
efo EFO:0003869 breast neoplasm DOID:1612 breast cancer
efo EFO:0003870 brain aneurysm DOID:10941 intracranial aneurysm
efo EFO:0003871 tongue neoplasm DOID:8649 tongue cancer
efo EFO:0003875 peripheral vascular disease DOID:341 peripheral vascular disease
efo EFO:0003876 intermittent vascular claudication DOID:3669 intermittent claudication
efo EFO:0003878 urethritis DOID:1343 urethritis
efo EFO:0003880 appendiceal neoplasm DOID:11239 appendix cancer
efo EFO:0003880 appendiceal neoplasm DOID:11240 appendiceal neoplasm
efo EFO:0003882 osteoporosis DOID:11476 osteoporosis
efo EFO:0003883 brain ischemia DOID:2316 brain ischemia
efo EFO:0003884 chronic kidney disease DOID:783 end stage renal failure
efo EFO:0003884 chronic kidney disease DOID:784 chronic kidney failure
efo EFO:0003885 multiple sclerosis DOID:2377 multiple sclerosis
efo EFO:0003887 thrombophlebitis DOID:3875 thrombophlebitis
efo EFO:0003888 attention deficit hyperactivity disorder DOID:1094 attention deficit hyperactivity disorder
efo EFO:0003890 drug dependence DOID:9974 drug dependence
efo EFO:0003891 biliary tract neoplasm DOID:0050625 biliary tract neoplasm
efo EFO:0003893 ovarian neoplasm DOID:2394 ovarian cancer
efo EFO:0003894 acne DOID:6543 acne
efo EFO:0003897 stomach neoplasm DOID:10534 stomach cancer
efo EFO:0003898 ankylosing spondylitis DOID:7147 ankylosing spondylitis
efo EFO:0003908 refractive error DOID:9835 refractive error
efo EFO:0003914 atherosclerosis DOID:1936 atherosclerosis
efo EFO:0003920 cleft palate DOID:674 cleft palate
efo EFO:0003927 myopia DOID:11830 myopia
efo EFO:0003928 necrotizing enterocolitis DOID:8677 perinatal necrotizing enterocolitis
efo EFO:0003929 relapsing-remitting multiple sclerosis DOID:2378 relapsing-remitting multiple sclerosis
efo EFO:0003932 bacterial vaginosis DOID:3385 bacterial vaginosis
efo EFO:0003938 aphthous ulcer DOID:9663 aphthous stomatitis
efo EFO:0003946 Fuchs' endothelial dystrophy DOID:11555 Fuchs' endothelial dystrophy
efo EFO:0003948 gastroesophageal reflux disease DOID:8534 gastroesophageal reflux disease
efo EFO:0003956 seasonal allergic rhinitis DOID:4481 allergic rhinitis
efo EFO:0003959 cleft lip DOID:9296 cleft lip
efo EFO:0003966 eye disease DOID:5614 eye disease
efo EFO:0003968 angiosarcoma DOID:0001816 angiosarcoma
efo EFO:0004123 acrocephalosyndactylia DOID:12960 acrocephalosyndactylia
efo EFO:0004124 Darier's disease DOID:2734 keratosis follicularis
efo EFO:0004125 growth hormone-secreting pituitary adenoma DOID:6255 growth hormone secreting pituitary adenoma
efo EFO:0004126 Adie syndrome DOID:11549 Adie syndrome
efo EFO:0004127 hyperthyroxinemia DOID:2855 hyperthyroxinemia
efo EFO:0004128 nephritis, hereditary DOID:10983 Alport syndrome
efo EFO:0004143 carpal tunnel syndrome DOID:12169 carpal tunnel syndrome
efo EFO:0004144 acatalasia DOID:2582 acatalasia
efo EFO:0004145 myopathy DOID:423 myopathy
efo EFO:0004149 neuropathy DOID:870 neuropathy
efo EFO:0004190 open-angle glaucoma DOID:1067 open-angle glaucoma
efo EFO:0004192 alopecia areata DOID:986 alopecia areata
efo EFO:0004193 basal cell carcinoma DOID:2513 basal cell carcinoma
efo EFO:0004194 IGA glomerulonephritis DOID:2986 IgA glomerulonephritis
efo EFO:0004196 viral human hepatitis infection DOID:1884 viral hepatitis
efo EFO:0004197 hepatitis B infection DOID:2043 hepatitis B
efo EFO:0004198 skin neoplasm DOID:3165 skin benign neoplasm
efo EFO:0004198 skin neoplasm DOID:4159 skin cancer
efo EFO:0004199 dysplastic nevus DOID:10041 dysplastic nevus syndrome
efo EFO:0004207 pathological myopia DOID:11829 degenerative myopia
efo EFO:0004208 Vitiligo DOID:12306 vitiligo
efo EFO:0004213 Otosclerosis DOID:12185 otosclerosis
efo EFO:0004214 Abdominal Aortic Aneurysm DOID:7693 abdominal aortic aneurysm
efo EFO:0004215 anorexia nervosa DOID:8689 anorexia nervosa
efo EFO:0004216 conduct disorder DOID:12995 conduct disorder
efo EFO:0004218 marijuana dependence DOID:1849 cannabis dependence
efo EFO:0004218 marijuana dependence DOID:9505 cannabis abuse
efo EFO:0004220 Chronic Hepatitis C infection DOID:1883 hepatitis C
efo EFO:0004222 Astigmatism DOID:11782 astigmatism
efo EFO:0004224 Coronary Restenosis DOID:4247 coronary restenosis
efo EFO:0004225 Coronary Vasospasm DOID:11840 coronary artery vasospasm
efo EFO:0004226 Creutzfeldt Jacob Disease DOID:11949 Creutzfeldt-Jakob syndrome
efo EFO:0004227 Dengue Hemorrhagic Fever DOID:12206 dengue hemorrhagic fever
efo EFO:0004228 drug-induced liver injury DOID:2044 drug-induced hepatitis
efo EFO:0004230 endometrial neoplasm DOID:1380 endometrial cancer
efo EFO:0004230 endometrial neoplasm DOID:2871 endometrial carcinoma
efo EFO:0004232 eosinophilic esophagitis DOID:13922 eosinophilic esophagitis
efo EFO:0004234 erectile dysfunction DOID:1875 impotence
efo EFO:0004235 exfoliation syndrome DOID:13641 exfoliation syndrome
efo EFO:0004236 focal segmental glomerulosclerosis DOID:1312 focal segmental glomerulosclerosis
efo EFO:0004237 Graves disease DOID:12361 Graves' disease
efo EFO:0004239 chronic hepatitis B infection DOID:2043 hepatitis B
efo EFO:0004240 heroin dependence DOID:9976 heroin dependence
efo EFO:0004242 obsessive-compulsive disorder DOID:10933 obsessive-compulsive disorder
efo EFO:0004244 interstitial lung disease DOID:3082 interstitial lung disease
efo EFO:0004246 mucocutaneous lymph node syndrome DOID:13378 Kawasaki disease
efo EFO:0004247 mood disorder DOID:3324 mood disorder
efo EFO:0004248 male infertility DOID:12336 male infertility
efo EFO:0004251 myeloproliferative disorder DOID:4960 bone marrow cancer
efo EFO:0004252 nasopharyngeal neoplasm DOID:9261 nasopharynx carcinoma
efo EFO:0004253 nephrolithiasis DOID:585 nephrolithiasis
efo EFO:0004254 membranous glomerulonephritis DOID:10976 membranous glomerulonephritis
efo EFO:0004255 nephrotic syndrome DOID:1184 nephrotic syndrome
efo EFO:0004256 neuromyelitis optica DOID:8869 neuromyelitis optica
efo EFO:0004257 neurotic disorder DOID:4964 neurotic disorder
efo EFO:0004259 osteonecrosis DOID:10159 osteonecrosis
efo EFO:0004260 bone disease DOID:0080001 bone disease
efo EFO:0004260 bone disease DOID:0080010 bone structure disease
efo EFO:0004261 osteitis deformans DOID:5408 Paget's disease of bone
efo EFO:0004262 panic disorder DOID:594 panic disorder
efo EFO:0004263 partial epilepsy DOID:2234 focal epilepsy
efo EFO:0004264 vascular disease DOID:178 vascular disease
efo EFO:0004266 primary ovarian insufficiency DOID:5426 premature ovarian failure
efo EFO:0004267 biliary liver cirrhosis DOID:12236 primary biliary cirrhosis
efo EFO:0004268 sclerosing cholangitis DOID:14268 sclerosing cholangitis
efo EFO:0004270 restless legs syndrome DOID:0050425 restless legs syndrome
efo EFO:0004272 anemia DOID:2355 anemia
efo EFO:0004274 gout DOID:13189 gout
efo EFO:0004276 Stevens-Johnson syndrome DOID:0050426 Stevens-Johnson syndrome
efo EFO:0004277 brain infarction DOID:3454 brain infarction
efo EFO:0004281 testicular neoplasm DOID:2998 testicular cancer
efo EFO:0004281 testicular neoplasm DOID:5557 testicular germ cell cancer
efo EFO:0004282 thoracic aortic aneurysm DOID:14004 thoracic aortic aneurysm
efo EFO:0004283 goiter DOID:12176 goiter
efo EFO:0004288 colonic neoplasm DOID:235 colonic neoplasm
efo EFO:0004289 lymphoid leukemia DOID:10747 lymphoid leukemia
efo EFO:0004540 chronic fatigue syndrome DOID:8544 chronic fatigue syndrome
efo EFO:0004562 cryptorchidism DOID:11383 cryptorchidism
efo EFO:0004593 gestational diabetes DOID:11714 gestational diabetes
efo EFO:0004606 gallbladder neoplasm DOID:3121 gallbladder cancer
efo EFO:0004607 duodenal ulcer DOID:1724 duodenal ulcer
efo EFO:0004705 hypothyroidism DOID:1459 hypothyroidism
efo EFO:0004711 elephantiasis DOID:4976 elephantiasis
efo EFO:0004712 podoconiosis DOID:0050138 podoconiosis
efo EFO:0004720 prion disease DOID:649 prion disease
efo EFO:0004799 cholelithiasis DOID:10211 cholelithiasis
efo EFO:0004894 tetralogy of fallot DOID:6419 tetralogy of Fallot
efo EFO:0004911 familial hypercholesterolemia DOID:13810 familial hypercholesterolemia
efo EFO:0004986 embryonal carcinoma DOID:3308 embryonal carcinoma
efo EFO:0004991 Myasthenia gravis DOID:437 myasthenia gravis
efo EFO:0004992 Otitis media DOID:10754 otitis media
efo EFO:0004994 lumbar disc degeneration DOID:90 degenerative disc disease
efo EFO:0005044 Leishmaniasis DOID:9065 leishmaniasis
efo EFO:0005045 visceral Leishmaniasis DOID:9146 visceral leishmaniasis
efo EFO:0005046 cutaneous Leishmaniasis DOID:9111 cutaneous leishmaniasis
efo ORPHANET:1007 Berardinelli-Seip congenital lipodystrophy DOID:0050585 congenital generalized lipodystrophy
efo ORPHANET:1007 Berardinelli-Seip congenital lipodystrophy DOID:11712 lipoatrophic diabetes
efo ORPHANET:101 Juvenile absence epilepsy DOID:0060172 juvenile absence epilepsy
efo ORPHANET:1011 46,XX gonadal dysgenesis DOID:14450 46 XX gonadal dysgenesis
efo ORPHANET:102 Juvenile myoclonic epilepsy DOID:4890 juvenile myoclonic epilepsy
efo ORPHANET:1022 Joubert syndrome DOID:0050777 Joubert syndrome
efo ORPHANET:1030 Meningioma DOID:3565 meningioma
efo ORPHANET:10307 Dravet syndrome DOID:0060171 Dravet Syndrome
efo ORPHANET:10318 Reticular dysgenesis DOID:0060020 reticular dysgenesis
efo ORPHANET:10319 Trichothiodystrophy DOID:2960 photosensitive trichothiodystrophy
efo ORPHANET:1032 LEOPARD syndrome DOID:14291 LEOPARD syndrome
efo ORPHANET:10347 Corneal dystrophy DOID:2566 corneal dystrophy
efo ORPHANET:10348 Glycogen storage disease due to LAMP-2 deficiency DOID:0050437 Danon disease
efo ORPHANET:10378 Nanophthalmia DOID:10629 microphthalmia
efo ORPHANET:10385 Primary lateral sclerosis DOID:230 lateral sclerosis
efo ORPHANET:1039 Duane syndrome DOID:12557 Duane retraction syndrome
efo ORPHANET:10393 Arginine:glycine amidinotransferase deficiency DOID:0050712 AGAT deficiency
efo ORPHANET:104 Ataxia-telangiectasia DOID:12704 ataxia telangiectasia
efo ORPHANET:1042 Autosomal recessive spondylocostal dysostosis DOID:0050568 spondylocostal dysostosis
efo ORPHANET:10424 Generalized epilepsy with febrile seizures-plus context DOID:0060170 generalized epilepsy with febrile seizures plus
efo ORPHANET:10442 Cardiodysrythmic potassium-sensitive periodic paralysis DOID:0050434 Andersen-Tawil syndrome
efo ORPHANET:1045 Gitelman syndrome DOID:0050450 Gitelman syndrome
efo ORPHANET:10452 Omenn syndrome DOID:0060010 Omenn syndrome
efo ORPHANET:10464 Bietti crystalline dystrophy DOID:0050664 Bietti crystalline corneoretinal dystrophy
efo ORPHANET:10495 Leukodystrophy DOID:10579 leukodystrophy
efo ORPHANET:105 Familial adenomatous polyposis DOID:0050424 familial adenomatous polyposis
efo ORPHANET:10503 Hemoglobinopathy DOID:2860 hemoglobinopathy
efo ORPHANET:10507 Inborn errors of metabolism DOID:655 inherited metabolic disorder
efo ORPHANET:10513 Peroxisomal disease DOID:906 peroxisomal disease
efo ORPHANET:10528 Neurofibromatosis DOID:8712 neurofibromatosis
efo ORPHANET:10576 Severe congenital neutropenia DOID:0050590 severe congenital neutropenia
efo ORPHANET:10584 Gastrointestinal stromal tumor DOID:9253 gastrointestinal stromal tumor
efo ORPHANET:1059 Barth syndrome DOID:0050476 Barth syndrome
efo ORPHANET:10627 Lissencephaly DOID:0050453 lissencephaly
efo ORPHANET:10633 Aceruloplasminemia DOID:0050711 aceruloplasminemia
efo ORPHANET:10638 Dentinogenesis imperfecta DOID:4154 dentinogenesis imperfecta
efo ORPHANET:10639 Achromatopsia DOID:13911 achromatopsia
efo ORPHANET:10675 Generalized arterial calcification of infancy DOID:0050644 generalized arterial calcification of infancy
efo ORPHANET:10715 Caroli disease DOID:898 polycystic kidney disease
efo ORPHANET:10719 Brody myopathy DOID:0050692 Brody myopathy
efo ORPHANET:10744 Distal hereditary motor neuropathy DOID:0050582 distal hereditary motor neuropathy
efo ORPHANET:10755 Membranoproliferative glomerulonephritis DOID:2920 membranoproliferative glomerulonephritis
efo ORPHANET:10756 Craniopharyngioma DOID:3840 craniopharyngioma
efo ORPHANET:10763 Adamantinoma DOID:2776 adamantinoma
efo ORPHANET:10790 Gestational trophoblastic neoplasm DOID:3590 gestational trophoblastic neoplasm
efo ORPHANET:10797 Pulmonary alveolar microlithiasis DOID:12117 pulmonary alveolar microlithiasis
efo ORPHANET:10806 Congenital heart block DOID:990 congenital heart block
efo ORPHANET:10825 Acrocapitofemoral dysplasia DOID:0050604 acrocapitofemoral dysplasia
efo ORPHANET:10832 Childhood absence epilepsy DOID:1825 childhood absence epilepsy
efo ORPHANET:10835 Tolosa-Hunt syndrome DOID:1278 tolosa-hunt syndrome
efo ORPHANET:10852 Dejerine-Sottas syndrome DOID:0050540 Charcot-Marie-Tooth disease type 3
efo ORPHANET:10853 Charcot-Marie-Tooth disease type 4 DOID:0050541 Charcot-Marie-Tooth disease type 4
efo ORPHANET:10865 Timothy syndrome DOID:0060173 Timothy syndrome
efo ORPHANET:10866 Biotin-responsive basal ganglia disease DOID:0050659 biotin-responsive basal ganglia disease
efo ORPHANET:10878 Charcot-Marie-Tooth disease type 1 DOID:0050538 Charcot-Marie-Tooth disease type 1
efo ORPHANET:109 Marfan syndrome DOID:14323 Marfan syndrome
efo ORPHANET:10935 Tyrosinemia type 3 DOID:0050727 tyrosinemia type III
efo ORPHANET:10939 Athabaskan brainstem dysgenesis syndrome DOID:0050682 Athabaskan brainstem dysgenesis syndrome
efo ORPHANET:10997 Rh deficiency syndrome DOID:0050641 Rh deficiency syndrome
efo ORPHANET:11 Cystinosis DOID:1064 cystinosis
efo ORPHANET:11017 Rapid-onset dystonia-parkinsonism DOID:5159 familial dystonia
efo ORPHANET:11028 Retinal dystrophy DOID:8501 fundus dystrophy
efo ORPHANET:11067 Wolman disease DOID:14497 Wolman disease
efo ORPHANET:11068 Cholesteryl ester storage disease DOID:14502 cholesterol ester storage disease
efo ORPHANET:11076 Central areolar choroidal dystrophy DOID:9822 partial central choroid dystrophy
efo ORPHANET:11079 Oguchi disease DOID:8498 hereditary night blindness
efo ORPHANET:11087 X-linked sideroblastic anemia DOID:0060063 X-linked sideroblastic anemia
efo ORPHANET:11094 Congenital muscular dystrophy, Ullrich type DOID:0050558 Ullrich congenital muscular dystrophy
efo ORPHANET:11105 Niemann-Pick disease type A DOID:14504 Niemann-Pick disease
efo ORPHANET:11106 Niemann-Pick disease type B DOID:14504 Niemann-Pick disease
efo ORPHANET:11177 Acrokeratosis verruciformis of Hopf DOID:0050606 acrokeratosis verruciformis
efo ORPHANET:11178 Disseminated superficial actinic porokeratosis DOID:3805 porokeratosis
efo ORPHANET:112 Metachromatic leukodystrophy DOID:10581 metachromatic leukodystrophy
efo ORPHANET:11227 Glycogen storage disease DOID:2747 glycogen storage disease
efo ORPHANET:11230 Lipid storage disease DOID:9455 lipid storage disease
efo ORPHANET:11237 Mixed hyperlipidemia DOID:13809 familial combined hyperlipidemia
efo ORPHANET:11238 Mucolipidosis DOID:3343 mucolipidosis
efo ORPHANET:11239 Mucopolysaccharidosis DOID:12798 mucopolysaccharidosis
efo ORPHANET:11251 Sphingolipidosis DOID:1927 sphingolipidosis
efo ORPHANET:11263 Galactokinase deficiency DOID:14695 galactokinase deficiency
efo ORPHANET:11267 Biotinidase deficiency DOID:856 biotinidase deficiency
efo ORPHANET:11268 Holocarboxylase synthetase deficiency DOID:859 holocarboxylase synthetase deficiency
efo ORPHANET:11269 Pyruvate dehydrogenase E1-alpha deficiency DOID:3649 pyruvate decarboxylase deficiency
efo ORPHANET:11290 Juvenile neuronal ceroid lipofuscinosis DOID:0050756 Batten disease
efo ORPHANET:11299 Hereditary coproporphyria DOID:13269 hereditary coproporphyria
efo ORPHANET:11302 Acute intermittent porphyria DOID:3890 acute intermittent porphyria
efo ORPHANET:11304 Erythropoietic protoporphyria DOID:13270 erythropoietic protoporphyria
efo ORPHANET:11319 Familial LCAT deficiency DOID:1391 Norum disease
efo ORPHANET:11340 L-2-hydroxyglutaric aciduria DOID:0050574 L-2-hydroxyglutaric aciduria
efo ORPHANET:11341 D-2-hydroxyglutaric aciduria DOID:0050575 D-2-hydroxyglutaric aciduria
efo ORPHANET:11390 Alopecia DOID:987 alopecia
efo ORPHANET:11391 Hypertrichosis DOID:420 hypertrichosis
efo ORPHANET:11409 Lymphedema DOID:4977 lymphedema
efo ORPHANET:11420 Congenital nonbullous ichthyosiform erythroderma DOID:1699 congenital ichthyosiform erythroderma
efo ORPHANET:11456 Hermansky-Pudlak syndrome DOID:3753 Hermansky-Pudlak syndrome
efo ORPHANET:11469 Pseudohypoparathyroidism type 1A DOID:0080053 Albright's hereditary osteodystrophy
efo ORPHANET:11471 Pseudopseudohypoparathyroidism DOID:4183 pseudopseudohypoparathyroidism
efo ORPHANET:11499 Porphyria variegata DOID:4346 variegate porphyria
efo ORPHANET:11519 Brooke-Spiegler syndrome DOID:0050693 Brooke-Spiegler syndrome
efo ORPHANET:11563 Proximal spinal muscular atrophy type 1 DOID:13137 Werdnig-Hoffmann disease
efo ORPHANET:11565 Proximal spinal muscular atrophy type 2 DOID:0050530 intermediate spinal muscular atrophy
efo ORPHANET:11566 Proximal spinal muscular atrophy type 3 DOID:12376 juvenile spinal muscular atrophy
efo ORPHANET:11567 Proximal spinal muscular atrophy type 4 DOID:0050529 adult spinal muscular atrophy
efo ORPHANET:11568 Inappropriate antidiuretic hormone secretion syndrome DOID:3401 inappropriate ADH syndrome
efo ORPHANET:11573 Glomuvenous malformation DOID:6906 glomangiomatosis
efo ORPHANET:11574 Congenital primary aphakia DOID:11367 congenital aphakia
efo ORPHANET:11580 Immunodeficiency due to absence of thymus DOID:2012 Nezelof syndrome
efo ORPHANET:116 Down syndrome DOID:14250 Down syndrome
efo ORPHANET:11624 Bothnia retinal dystrophy DOID:0050683 Bothnia retinal dystrophy
efo ORPHANET:11651 Idiopathic juvenile osteoporosis DOID:12559 idiopathic juvenile osteoporosis
efo ORPHANET:11666 Intellectual deficit, X-linked, Armfield type DOID:0050764 Armfield syndrome
efo ORPHANET:117 Lafora disease DOID:3534 Lafora disease
efo ORPHANET:11722 Familial renal amyloidosis DOID:0050636 familial visceral amyloidosis
efo ORPHANET:11724 X-linked reticulate pigmentary disorder with systemic manifestations DOID:13207 proliferative diabetic retinopathy
efo ORPHANET:11810 Tritanopia DOID:11661 blue color blindness
efo ORPHANET:11823 Amelogenesis imperfecta DOID:2187 amelogenesis imperfecta
efo ORPHANET:11911 X-linked hypophosphatemia DOID:0050445 X-linked hypophosphatemia
efo ORPHANET:11927 Syndactyly DOID:11193 syndactyly
efo ORPHANET:11936 Hemoglobin D disease DOID:5378 hemoglobin D disease
efo ORPHANET:11937 Gaisbock syndrome DOID:2838 stress polycythemia
efo ORPHANET:11938 Primary familial polycythemia DOID:10780 primary polycythemia
efo ORPHANET:12 Farber lipogranulomatosis DOID:0050464 Farber lipogranulomatosis
efo ORPHANET:120 Fragile X syndrome DOID:14261 fragile X syndrome
efo ORPHANET:12005 Klippel-Trenaunay syndrome DOID:2926 Klippel-Trenaunay syndrome
efo ORPHANET:12018 Blau syndrome DOID:0050678 Blau syndrome
efo ORPHANET:12028 Brittle cornea syndrome DOID:14775 type VI Ehlers-Danlos syndrome
efo ORPHANET:12081 Panhypopituitarism DOID:9410 panhypopituitarism
efo ORPHANET:121 Multiple endocrine neoplasia type 1 DOID:10017 Wermer syndrome
efo ORPHANET:12126 Germinoma of the central nervous system DOID:2127 brain germinoma
efo ORPHANET:12126 Germinoma of the central nervous system DOID:4438 central nervous system germinoma
efo ORPHANET:12129 Sheehan syndrome DOID:9476 Sheehan syndrome
efo ORPHANET:12136 Hereditary angioedema DOID:14735 hereditary angioedema
efo ORPHANET:12142 Marcus-Gunn syndrome DOID:560 jaw-winking syndrome
efo ORPHANET:12148 Rieger's anomaly DOID:14686 Axenfeld-Rieger syndrome
efo ORPHANET:122 retinoblastoma DOID:768 retinoblastoma
efo ORPHANET:12218 Polyostotic fibrous dysplasia DOID:1858 McCune Albright syndrome
efo ORPHANET:12234 Hypochondrogenesis DOID:0080044 hypochondrogenesis
efo ORPHANET:12236 Achondrogenesis type 1A DOID:0080054 achondrogenesis type IA
efo ORPHANET:12281 Anauxetic dysplasia DOID:0050640 anauxetic dysplasia
efo ORPHANET:12287 Spondyloepimetaphyseal dysplasia, Missouri type DOID:0080030 spondyloepimetaphyseal dysplasia, Missouri type
efo ORPHANET:12288 SPONASTRIME dysplasia DOID:5684 sponastrime dysplasia
efo ORPHANET:123 Oculocerebrorenal syndrome DOID:1056 oculocerebrorenal syndrome
efo ORPHANET:12348 Acromesomelic dysplasia DOID:0080049 acromesomelic dysplasia
efo ORPHANET:12449 Hemoglobin H disease DOID:1099 alpha thalassemia
efo ORPHANET:1245 ABCD syndrome DOID:0050600 ABCD syndrome
efo ORPHANET:12482 Neurofibromatosis type 3 DOID:3204 neurilemmomatosis
efo ORPHANET:125 Sickle cell anemia DOID:10923 sickle cell anemia
efo ORPHANET:12522 Blepharospasm - oromandibular dystonia DOID:3982 Meige syndrome
efo ORPHANET:1253 Triple A syndrome DOID:0050602 triple-A syndrome
efo ORPHANET:12539 Neovascular glaucoma DOID:1687 neovascular glaucoma
efo ORPHANET:12548 Spondyloepiphyseal dysplasia congenita DOID:14789 spondyloepiphyseal dysplasia congenita
efo ORPHANET:1255 Acheiropodia DOID:0050603 acheiropody
efo ORPHANET:12553 Partington syndrome DOID:14744 Partington syndrome
efo ORPHANET:1256 Achondrogenesis DOID:0080043 achondrogenesis
efo ORPHANET:12580 Hepatoerythropoietic porphyria DOID:5230 hepatoerythropoietic porphyria
efo ORPHANET:126 Monosomy 22q11 DOID:11198 DiGeorge syndrome
efo ORPHANET:126 Monosomy 22q11 DOID:12583 velocardiofacial syndrome
efo ORPHANET:12640 Pituitary apoplexy DOID:1129 pituitary apoplexy
efo ORPHANET:1269 Acrodysostosis DOID:14669 acrodysostosis
efo ORPHANET:1276 Acroosteolysis dominant type DOID:2736 Hajdu-Cheney syndrome
efo ORPHANET:12828 Familial prolactinoma DOID:5394 prolactinoma
efo ORPHANET:12853 Distal arthrogryposis DOID:0050646 distal arthrogryposis
efo ORPHANET:12856 Brown-Vialetto-van Laere syndrome DOID:0050694 Brown-Vialetto-Van Laere syndrome
efo ORPHANET:12865 Congenital muscular dystrophy DOID:0050557 congenital muscular dystrophy
efo ORPHANET:1287 Acromesomelic dysplasia, Hunter-Thomson type DOID:0080051 acromesomelic dysplasia, Hunter-Thompson type
efo ORPHANET:1288 Acromesomelic dysplasia, Maroteaux type DOID:0080050 acromesomelic dysplasia, Maroteaux type
efo ORPHANET:12891 Osgood-Schlatter disease DOID:7489 Osgood-Schlatter's disease
efo ORPHANET:12935 Pseudohypoparathyroidism DOID:4184 pseudohypoparathyroidism
efo ORPHANET:1297 ADULT syndrome DOID:0050601 ADULT syndrome
efo ORPHANET:13 Fucosidosis DOID:14500 fucosidosis
efo ORPHANET:1309 Aicardi-Goutieres syndrome DOID:0050629 Aicardi-Goutieres syndrome
efo ORPHANET:1315 Allan-Herndon-Dudley syndrome DOID:0050631 Allan-Herndon-Dudley syndrome
efo ORPHANET:132 Mucopolysaccharidosis type 1 DOID:12802 mucopolysaccharidosis I
efo ORPHANET:1321 Alopecia universalis DOID:0050634 alopecia universalis
efo ORPHANET:13266 Ehlers-Danlos syndrome DOID:13359 Ehlers-Danlos syndrome
efo ORPHANET:13278 Progressive myoclonic epilepsy DOID:891 progressive myoclonus epilepsy
efo ORPHANET:13323 Familial partial lipodystrophy DOID:0050440 familial partial lipodystrophy
efo ORPHANET:134 Wilson disease DOID:893 Wilson disease
efo ORPHANET:1344 Arthrogryposis multiplex congenita DOID:0050646 distal arthrogryposis
efo ORPHANET:13445 Secondary polycythemia DOID:2834 acquired polycythemia
efo ORPHANET:13490 Muscular dystrophy DOID:9884 muscular dystrophy
efo ORPHANET:13633 Conjunctival tumor DOID:5467 conjunctival cancer
efo ORPHANET:1371 Dental ankylosis DOID:12661 tooth ankylosis
efo ORPHANET:13774 Spinocerebellar ataxia type 3 DOID:1440 Machado-Joseph disease
efo ORPHANET:13835 Landau-Kleffner syndrome DOID:2538 Landau-Kleffner syndrome
efo ORPHANET:13895 Hemophilia A DOID:12134 factor VIII deficiency
efo ORPHANET:13896 Hemophilia B DOID:12259 hemophilia B
efo ORPHANET:139 Prader-Willi syndrome DOID:11983 Prader-Willi syndrome
efo ORPHANET:13909 Periventricular nodular heterotopia DOID:0050454 periventricular nodular heterotopia
efo ORPHANET:1391 Antley-Bixler syndrome DOID:0050462 Antley-Bixler syndrome
efo ORPHANET:13912 Becker muscular dystrophy DOID:9883 Becker muscular dystrophy
efo ORPHANET:13913 Duchenne muscular dystrophy DOID:11723 Duchenne muscular dystrophy
efo ORPHANET:13949 Shy-Drager syndrome DOID:4752 multiple system atrophy
efo ORPHANET:13950 Multiple system atrophy, parkinsonian type DOID:4751 striatonigral degeneration
efo ORPHANET:13986 Macular corneal dystrophy DOID:2565 macular corneal dystrophy
efo ORPHANET:13994 Juvenile glaucoma DOID:1068 juvenile glaucoma
efo ORPHANET:13996 Chandler syndrome DOID:11554 Chandler syndrome
efo ORPHANET:14 Glycogen storage disease type 2 DOID:2752 glycogen storage disease II
efo ORPHANET:14010 Posterior polar cataract DOID:0050537 posterior polar cataract
efo ORPHANET:14062 Double outlet right ventricle with subpulmonary ventricular septal defect DOID:6406 double outlet right ventricle
efo ORPHANET:14120 Atrial septal defect, ostium secundum type DOID:13620 patent foramen ovale
efo ORPHANET:14125 Patent foramen ovale DOID:13620 patent foramen ovale
efo ORPHANET:14199 Monosomy X DOID:3491 Turner syndrome
efo ORPHANET:142 X-linked agammaglobulinemia DOID:14179 Bruton-type agammaglobulinemia
efo ORPHANET:14205 Familial medullary thyroid carcinoma DOID:0050547 familial medullary thyroid carcinoma
efo ORPHANET:14209 Pituitary adenoma DOID:3829 pituitary adenoma
efo ORPHANET:14312 Familial hypertrophic cardiomyopathy DOID:11986 familial hypertrophic cardiomyopathy
efo ORPHANET:14370 Anodontia DOID:13714 anodontia
efo ORPHANET:14385 LIG4 syndrome DOID:0060021 DNA ligase IV deficiency
efo ORPHANET:144 Wiskott-Aldrich syndrome DOID:9169 Wiskott-Aldrich syndrome
efo ORPHANET:1443 Infantile onset spinocerebellar ataxia DOID:0050556 infantile onset spinocerebellar ataxia
efo ORPHANET:1444 Lethal ataxia with deafness and optic atrophy DOID:0050647 Arts syndrome
efo ORPHANET:14443 Letterer-Siwe disease DOID:2554 Letterer-Siwe disease
efo ORPHANET:14499 Gestational choriocarcinoma DOID:2025 gestational choriocarcinoma
efo ORPHANET:145 Williams syndrome DOID:1928 Williams-Beuren syndrome
efo ORPHANET:14501 Placental site trophoblastic tumor DOID:3596 placental site trophoblastic tumor
efo ORPHANET:1469 Baller-Gerold syndrome DOID:0050654 Baller-Gerold syndrome
efo ORPHANET:147 Wolf-Hirschhorn syndrome DOID:0050460 Wolf-Hirschhorn syndrome
efo ORPHANET:1470 Bamforth syndrome DOID:0050655 Bamforth-Lazarus syndrome
efo ORPHANET:14727 Romano-Ward syndrome DOID:2843 long QT syndrome
efo ORPHANET:1473 Bannayan-Riley-Ruvalcaba syndrome DOID:0050657 Bannayan-Riley-Ruvalcaba syndrome
efo ORPHANET:1474 Congenital intrauterine infection-like syndrome DOID:0050629 Aicardi-Goutieres syndrome
efo ORPHANET:1474 Congenital intrauterine infection-like syndrome DOID:0050656 pseudo-TORCH syndrome
efo ORPHANET:14774 Situs inversus totalis DOID:758 situs inversus
efo ORPHANET:14799 X-linked hyper-IgM syndrome DOID:0060022 CD40 ligand deficiency
efo ORPHANET:14799 X-linked hyper-IgM syndrome DOID:6620 X-linked hyper IgM syndrome
efo ORPHANET:148 Achondroplasia DOID:4480 achondroplasia
efo ORPHANET:14841 Porphyria cutanea tarda DOID:3132 porphyria cutanea tarda
efo ORPHANET:14893 Pituitary deficiency DOID:9406 hypopituitarism
efo ORPHANET:1490 Maxillo-nasal dysplasia DOID:14683 Binder syndrome
efo ORPHANET:14908 Combined T and B cell immunodeficiency DOID:628 combined T cell and B cell immunodeficiency
efo ORPHANET:14999 Short bowel syndrome DOID:10605 short bowel syndrome
efo ORPHANET:15 Glycogen debranching enzyme deficiency DOID:2748 glycogen storage disease III
efo ORPHANET:150 Dentatorubral-pallidoluysian atrophy DOID:0060162 dentatorubral-pallidoluysian atrophy
efo ORPHANET:1501 Boomerang dysplasia DOID:0050680 Boomerang dysplasia
efo ORPHANET:1502 Borjeson-Forssman-Lehmann syndrome DOID:0050681 Borjeson-Forssman-Lehmann syndrome
efo ORPHANET:1506 Bowen-Conradi syndrome DOID:0050684 Bowen-Conradi syndrome
efo ORPHANET:151 Rubinstein-Taybi syndrome DOID:1933 Rubinstein-Taybi syndrome
efo ORPHANET:1526 Brachyolmia DOID:0050690 brachyolmia
efo ORPHANET:1530 Branchio-oculo-facial syndrome DOID:0050691 branchiooculofacial syndrome
efo ORPHANET:1551 Camurati-Engelmann disease DOID:4997 Camurati-Engelmann disease
efo ORPHANET:16 Glycogen branching enzyme deficiency DOID:2750 glycogen storage disease IV
efo ORPHANET:160 Hypophosphatemic rickets DOID:0050445 X-linked hypophosphatemia
efo ORPHANET:161 Hypochondroplasia DOID:0080041 hypochondroplasia
efo ORPHANET:1614 Familial articular chondrocalcinosis DOID:1156 pseudogout
efo ORPHANET:162 Hypophosphatasia DOID:14213 hypophosphatasia
efo ORPHANET:1633 Otospondylomegaepiphyseal dysplasia DOID:0080026 otospondylomegaepiphyseal dysplasia
efo ORPHANET:1645 Coats disease DOID:7765 Coats disease
efo ORPHANET:167 Leber hereditary optic neuropathy DOID:705 leber hereditary optic neuropathy
efo ORPHANET:16744 Choanal atresia DOID:9574 choanal atresia
efo ORPHANET:168 Ornithine transcarbamylase deficiency DOID:9271 ornithine carbamoyltransferase deficiency
efo ORPHANET:1680 Craniodiaphyseal dysplasia DOID:0080032 craniodiaphyseal dysplasia
efo ORPHANET:1682 Cranioectodermal dysplasia DOID:0050577 Sensenbrenner syndrome
efo ORPHANET:1687 Craniofrontonasal dysplasia DOID:14737 craniofrontonasal syndrome
efo ORPHANET:1689 Craniometaphyseal dysplasia DOID:0080033 craniometaphyseal dysplasia
efo ORPHANET:16900 Retinopathy, Burgess-Black type DOID:0050662 bestrophinopathy
efo ORPHANET:16966 Hereditary motor and sensory neuropathy DOID:2477 motor peripheral neuropathy
efo ORPHANET:16973 Hereditary sensory and autonomic neuropathy DOID:0050548 hereditary sensory neuropathy
efo ORPHANET:17 Myophosphorylase deficiency DOID:2746 glycogen storage disease V
efo ORPHANET:170 Severe combined immunodeficiency T- B+ due to gamma chain deficiency DOID:0060013 gamma chain deficiency
efo ORPHANET:17032 Nasolacrimal duct cyst DOID:9939 dacryocystocele
efo ORPHANET:17045 Hemifacial microsomia DOID:2907 Goldenhar syndrome
efo ORPHANET:1707 Cutis gyrata - acanthosis nigricans - craniosynostosis DOID:0050660 Beare-Stevenson cutis gyrata syndrome
efo ORPHANET:17091 Mandibulofacial dysostosis DOID:2908 Treacher Collins syndrome
efo ORPHANET:17093 Keratoconus DOID:10126 keratoconus
efo ORPHANET:17156 Pantothenate-kinase-associated neurodegeneration DOID:3981 Hallervorden-Spatz syndrome
efo ORPHANET:17181 Hemophagocytic syndrome DOID:0050120 hemophagocytic lymphohistiocytosis
efo ORPHANET:172 Leprechaunism DOID:0050470 Donohue Syndrome
efo ORPHANET:173 Classical homocystinuria DOID:9263 homocystinuria
efo ORPHANET:1730 Alpers syndrome DOID:1442 Alpers syndrome
efo ORPHANET:1743 Dentin dysplasia DOID:701 dentin dysplasia
efo ORPHANET:17509 Maffucci syndrome DOID:4624 Ollier disease
efo ORPHANET:17568 Familial advanced sleep-phase syndrome DOID:0050628 advanced sleep phase syndrome
efo ORPHANET:176 Chronic granulomatous disease DOID:3265 chronic granulomatous disease
efo ORPHANET:17628 Sick sinus syndrome DOID:13884 sick sinus syndrome
efo ORPHANET:17649 Epileptic syndrome DOID:1826 epilepsy syndrome
efo ORPHANET:177 Blue cone monochromatism DOID:0050679 blue cone monochromacy
efo ORPHANET:17821 Good syndrome DOID:0060028 Good syndrome
efo ORPHANET:17825 Transient hypogammaglobulinemia of infancy DOID:624 transient hypogammaglobulinemia of infancy
efo ORPHANET:17935 White sponge nevus DOID:0050448 hereditary mucosal leukokeratosis
efo ORPHANET:17999 Central diabetes insipidus DOID:12388 neurohypophyseal diabetes insipidus
efo ORPHANET:180 Christ-Siemens-Touraine syndrome DOID:14793 hypohidrotic ectodermal dysplasia
efo ORPHANET:18015 Cland Island eye disease DOID:0050630 Aland Island eye disease
efo ORPHANET:1809 Multiple epiphyseal dysplasia DOID:12721 multiple epiphyseal dysplasia
efo ORPHANET:183 Neurofibromatosis type 2 DOID:8712 neurofibromatosis
efo ORPHANET:18303 Severe combined immunodeficiency DOID:627 severe combined immunodeficiency
efo ORPHANET:18306 Agammaglobulinemia DOID:2583 agammaglobulinemia
efo ORPHANET:18380 Nelson syndrome DOID:4968 Nelson syndrome
efo ORPHANET:1843 Cone rod dystrophy DOID:0050572 cone-rod dystrophy
efo ORPHANET:18494 Hypoxanthine-guanine phosphoribosyltransferase deficiency DOID:1919 Lesch-Nyhan syndrome
efo ORPHANET:185 Neurofibromatosis type 1 DOID:8712 neurofibromatosis
efo ORPHANET:18540 Myotonic dystrophy DOID:11722 myotonic dystrophy
efo ORPHANET:18547 Bulbospinal muscular atrophy DOID:0060161 Kennedy's disease
efo ORPHANET:18555 Mitochondrial myopathy DOID:699 mitochondrial myopathy
efo ORPHANET:1889 Maternal hyperphenylalaninemia DOID:9281 phenylketonuria
efo ORPHANET:1903 Erythromelalgia DOID:9240 erythromelalgia
efo ORPHANET:19056 Fundus albipunctatus DOID:11105 fundus albipunctatus
efo ORPHANET:19266 Hypohidrotic ectodermal dysplasia DOID:14793 hypohidrotic ectodermal dysplasia
efo ORPHANET:193 Pearson syndrome DOID:0060067 Pearson syndrome
efo ORPHANET:194 Alpha-1 antitrypsin deficiency DOID:13372 alpha 1-antitrypsin deficiency
efo ORPHANET:19524 Citrullinemia type I DOID:9273 citrullinemia
efo ORPHANET:19538 Multiple endocrine neoplasia type 2A DOID:0050430 Sipple syndrome
efo ORPHANET:19539 Multiple endocrine neoplasia type 2B DOID:10016 Wagenmann-Froboese syndrome
efo ORPHANET:19554 Occult macular dystrophy DOID:0050578 occult macular dystrophy
efo ORPHANET:19561 Primary hypertrophic osteoarthropathy DOID:14283 primary hypertrophic osteoarthropathy
efo ORPHANET:196 Li-Fraumeni syndrome DOID:3012 Li-Fraumeni syndrome
efo ORPHANET:19635 Sickle cell - hemoglobin C disease DOID:10923 sickle cell anemia
efo ORPHANET:197 Lesch-Nyhan syndrome DOID:1919 Lesch-Nyhan syndrome
efo ORPHANET:19765 Epithelioid trophoblastic tumor DOID:3593 epithelioid trophoblastic tumor
efo ORPHANET:19805 Autosomal recessive pyridoxine-refractory sideroblastic anemia DOID:0060065 pyridoxine-refractory autosomal recessive sideroblastic anemia
efo ORPHANET:2 Alexander disease DOID:4252 Alexander disease
efo ORPHANET:20039 Glycogen storage disease type 15 DOID:0050579 glycogen storage disease XV
efo ORPHANET:2004 Focal dermal hypoplasia DOID:2120 focal dermal hypoplasia
efo ORPHANET:20055 Neuroacanthocytosis DOID:0050765 neuroacanthocytosis
efo ORPHANET:201 Monosomy 5p DOID:12580 Cri-Du-Chat syndrome
efo ORPHANET:2010 Acromesomelic dysplasia, Grebe type DOID:0080052 acromesomelic dysplasia, Grebe type
efo ORPHANET:2011 Greig cephalopolysyndactyly syndrome DOID:14761 Greig cephalopolysyndactyly syndrome
efo ORPHANET:202 Cystinuria DOID:9266 cystinuria
efo ORPHANET:20430 Complement component 3 deficiency DOID:8354 C3 deficiency
efo ORPHANET:20475 Rapidly progressive glomerulonephritis DOID:4776 rapidly progressive glomerulonephritis
efo ORPHANET:205 Fibrodysplasia ossificans progressiva DOID:13374 fibrodysplasia ossificans progressiva
efo ORPHANET:20537 Congenital ichthyosis with trichothiodystrophy DOID:2960 photosensitive trichothiodystrophy
efo ORPHANET:206 Noonan syndrome DOID:3490 Noonan syndrome
efo ORPHANET:20609 Phosphoserine aminotransferase deficiency DOID:0050723 PSAT deficiency
efo ORPHANET:20623 Ocular albinism DOID:0050633 ocular albinism
efo ORPHANET:207 Gorlin syndrome DOID:2512 nevoid basal cell carcinoma syndrome
efo ORPHANET:20774 Organic aciduria DOID:0060159 organic acidemia
efo ORPHANET:2079 Epidermolytic ichthyosis DOID:4603 epidermolytic hyperkeratosis
efo ORPHANET:20854 Methylmalonic acidemia without homocystinuria DOID:14749 methylmalonic acidemia
efo ORPHANET:209 Diastrophic dwarfism DOID:14687 diastrophic dysplasia
efo ORPHANET:2091 Hypertelorism-microtia-facial clefting syndrome DOID:14670 hypertelorism, microtia, facial clefting syndrome
efo ORPHANET:20919 Brachydactyly DOID:0050581 brachydactyly
efo ORPHANET:2102 Hypodontia - dysplasia of nails DOID:6678 tooth and nail syndrome
efo ORPHANET:211 Hypokalemic periodic paralysis DOID:14452 hypokalemic periodic paralysis
efo ORPHANET:212 Hyperkalemic periodic paralysis DOID:14451 hyperkalemic periodic paralysis
efo ORPHANET:2130 Pallister-Hall syndrome DOID:9248 Pallister-Hall syndrome
efo ORPHANET:2137 Neutral lipid storage disease DOID:0050729 neutral lipid storage disease
efo ORPHANET:2169 Pachyonychia congenita DOID:0050449 pachyonychia congenita
efo ORPHANET:2172 Johanson-Blizzard syndrome DOID:14694 Johanson-Blizzard syndrome
efo ORPHANET:2184 KBG syndrome DOID:14780 KBG syndrome
efo ORPHANET:2198 Kniest dysplasia DOID:0080045 Kniest dysplasia
efo ORPHANET:22 Krabbe disease DOID:10587 Krabbe disease
efo ORPHANET:2200 Familial partial lipodystrophy, Dunnigan type DOID:0050440 familial partial lipodystrophy
efo ORPHANET:2207 Lacrimo-auriculo-dento-digital syndrome DOID:0050331 LADD syndrome
efo ORPHANET:2219 Choreoacanthocytosis DOID:0050766 chorea-acanthocytosis
efo ORPHANET:225 Zellweger syndrome DOID:905 Zellweger syndrome
efo ORPHANET:2257 Enchondromatosis DOID:4624 Ollier disease
efo ORPHANET:2298 Melorheostosis DOID:4253 melorheostosis
efo ORPHANET:230 WAGR syndrome DOID:14515 WAGR syndrome
efo ORPHANET:2325 Autosomal dominant microcephaly DOID:14725 autosomal dominant microcephaly
efo ORPHANET:233 Peutz-Jeghers syndrome DOID:3852 Peutz-Jeghers syndrome
efo ORPHANET:234 Pfeiffer syndrome DOID:14705 Pfeiffer syndrome
efo ORPHANET:235 Saethre-Chotzen syndrome DOID:14768 Saethre-Chotzen syndrome
efo ORPHANET:236 Rendu-Osler-Weber disease DOID:1270 hereditary hemorrhagic telangiectasia
efo ORPHANET:237 BOR syndrome DOID:14702 branchiootorenal syndrome
efo ORPHANET:2373 Moyamoya disease DOID:13099 Moyamoya disease
efo ORPHANET:2374 Moynahan syndrome DOID:14291 LEOPARD syndrome
efo ORPHANET:2376 MULIBREY nanism DOID:0050436 mulibrey nanism
efo ORPHANET:238 Blepharophimosis - epicanthus inversus - ptosis DOID:14778 blepharophimosis, ptosis, and epicanthus inversus syndrome
efo ORPHANET:2389 Carney complex DOID:0050471 Carney complex
efo ORPHANET:2390 N syndrome DOID:0050769 N syndrome
efo ORPHANET:24 Mucopolysaccharidosis type 6 DOID:12800 mucopolysaccharidosis VI
efo ORPHANET:240 Coffin-Lowry syndrome DOID:3783 Coffin-Lowry syndrome
efo ORPHANET:242 Crigler-Najjar syndrome DOID:3803 Crigler-Najjar syndrome
efo ORPHANET:243 Cowden syndrome DOID:6457 Cowden disease
efo ORPHANET:2459 Arthrogryposis - renal dysfunction - cholestasis DOID:0050763 ARC syndrome
efo ORPHANET:2460 Knuckle pads - leuconychia - sensorineural deafness DOID:0050658 Bart-Pumphrey syndrome
efo ORPHANET:249 Chediak-Higashi syndrome DOID:2935 Chediak-Higashi syndrome
efo ORPHANET:2511 Oral-facial-digital syndrome type 8 DOID:1085 Edwards syndrome
efo ORPHANET:252 Abetalipoproteinemia DOID:1386 abetalipoproteinemia
efo ORPHANET:253 Alagille syndrome DOID:9245 Alagille syndrome
efo ORPHANET:254 Aicardi syndrome DOID:8461 Aicardi syndrome
efo ORPHANET:260 Beckwith-Wiedemann syndrome DOID:5572 Beckwith-Wiedemann syndrome
efo ORPHANET:261 Apert syndrome DOID:12960 acrocephalosyndactylia
efo ORPHANET:2612 Piebaldism DOID:3263 piebaldism
efo ORPHANET:2630 Poland syndrome DOID:12961 Poland syndrome
efo ORPHANET:2636 Postaxial polydactyly DOID:1148 polydactyly
efo ORPHANET:2641 Polycystic liver disease DOID:0050770 polycystic liver disease
efo ORPHANET:2646 Cronkhite-Canada syndrome DOID:6225 Cronkhite-Canada syndrome
efo ORPHANET:265 Lamellar ichthyosis DOID:1699 congenital ichthyosiform erythroderma
efo ORPHANET:2670 Hutchinson-Gilford progeria syndrome DOID:3911 progeria
efo ORPHANET:2676 Pseudoachondroplasia DOID:0080047 pseudoachondroplasia
efo ORPHANET:2705 Qazi-Markouizos syndrome DOID:0050740 Qazi Markouizos syndrome
efo ORPHANET:2716 RAPADILINO syndrome DOID:0050774 rapadilino syndrome
efo ORPHANET:278 Menkes disease DOID:1838 Menkes disease
efo ORPHANET:2785 Rothmund-Thomson syndrome DOID:2732 Rothmund-Thomson syndrome
efo ORPHANET:279 McCune-Albright syndrome DOID:1858 McCune Albright syndrome
efo ORPHANET:280 Meckel syndrome DOID:0050778 Meckel syndrome
efo ORPHANET:2813 Schneckenbecken dysplasia DOID:0050775 schneckenbecken dysplasia
efo ORPHANET:2819 Sclerosteosis DOID:0080036 SOST-related sclerosing bone dysplasia
efo ORPHANET:2823 Nijmegen breakage syndrome DOID:7400 Nijmegen breakage syndrome
efo ORPHANET:2824 Senior-Loken syndrome DOID:0050576 Senior-Loken syndrome
efo ORPHANET:283 Jeune syndrome DOID:0050592 asphyxiating thoracic dystrophy
efo ORPHANET:2843 Spondyloepimetaphyseal dysplasia DOID:0080027 spondyloepimetaphyseal dysplasia
efo ORPHANET:2843 Spondyloepimetaphyseal dysplasia DOID:5684 sponastrime dysplasia
efo ORPHANET:287 Ellis Van Creveld syndrome DOID:12714 Ellis-Van Creveld syndrome
efo ORPHANET:2900 Renpenning syndrome DOID:0060179 Renpenning syndrome
efo ORPHANET:2927 Apolipoprotein A-I deficiency DOID:1388 Tangier disease
efo ORPHANET:293 Treacher-Collins syndrome DOID:2908 Treacher Collins syndrome
efo ORPHANET:294 Unverricht-Lundborg disease DOID:3535 Unverricht-Lundborg syndrome
efo ORPHANET:2965 Arterial tortuosity syndrome DOID:0050645 arterial tortuosity syndrome
efo ORPHANET:299 Cornelia de Lange syndrome DOID:11725 Cornelia de Lange syndrome
efo ORPHANET:3 Alpha-mannosidosis DOID:3413 alpha-mannosidosis
efo ORPHANET:30 Niemann-Pick disease DOID:14504 Niemann-Pick disease
efo ORPHANET:301 Holoprosencephaly DOID:4621 holoprosencephaly
efo ORPHANET:3032 Weaver-Williams syndrome DOID:14731 Weaver syndrome
efo ORPHANET:3033 Weill-Marchesani syndrome DOID:0050475 Weill-Marchesani syndrome
efo ORPHANET:3035 Autoimmune polyendocrinopathy type 1 DOID:0050167 autoimmune polyendocrine syndrome type 1
efo ORPHANET:311 Oculocutaneous albinism DOID:0050632 oculocutaneous albinism
efo ORPHANET:321 Coffin-Siris syndrome DOID:1925 Coffin-Siris syndrome
efo ORPHANET:323 Darier disease DOID:2734 keratosis follicularis
efo ORPHANET:3243 Leber congenital amaurosis DOID:14791 Leber congenital amaurosis
efo ORPHANET:3244 Bardet-Biedl syndrome DOID:1935 Bardet-Biedl syndrome
efo ORPHANET:3245 Hereditary nonpolyposis colon cancer DOID:3883 Lynch syndrome
efo ORPHANET:3249 Kallmann syndrome DOID:3614 Kallmann syndrome
efo ORPHANET:3250 Laron syndrome DOID:9521 Laron syndrome
efo ORPHANET:3252 Hereditary spherocytosis DOID:12971 hereditary spherocytosis
efo ORPHANET:3253 Xeroderma pigmentosum DOID:0050427 xeroderma pigmentosum
efo ORPHANET:3276 Hyperimmunoglobulinemia D with periodic fever DOID:0050452 mevalonic aciduria
efo ORPHANET:3277 Congenital factor II deficiency DOID:2235 prothrombin deficiency
efo ORPHANET:3297 Isolated 3-methylcrotonyl-CoA carboxylase deficiency DOID:0050710 3-Methylcrotonyl-CoA carboxylase deficiency
efo ORPHANET:3299 Familial hypospadias DOID:10892 hypospadias
efo ORPHANET:3338 Frontotemporal dementia DOID:9255 frontotemporal dementia
efo ORPHANET:3353 Hyperlysinemia DOID:9274 hyperlysinemia
efo ORPHANET:3355 Histidinemia DOID:0060168 histidinemia
efo ORPHANET:3357 Homocarnosinosis DOID:0060177 homocarnosinosis
efo ORPHANET:3359 Congenital intrinsic factor deficiency DOID:0050734 congenital intrinsic factor deficiency
efo ORPHANET:3362 2-hydroxyglutaric aciduria DOID:0050573 2-hydroxyglutaric aciduria
efo ORPHANET:337 Trisomy 13 DOID:11665 Patau syndrome
efo ORPHANET:3379 Fatal infantile cytochrome C oxidase deficiency DOID:0050713 fatal infantile encephalocardiomyopathy
efo ORPHANET:3386 Lymphangioleiomyomatosis DOID:3319 lymphangioleiomyomatosis
efo ORPHANET:3387 Prolactinoma DOID:5394 prolactinoma
efo ORPHANET:339 Trisomy 18 DOID:1085 Edwards syndrome
efo ORPHANET:3450 Double outlet right ventricle DOID:6406 double outlet right ventricle
efo ORPHANET:3462 Scimitar syndrome DOID:4297 scimitar syndrome
efo ORPHANET:3468 Autoimmune lymphoproliferative syndrome DOID:6688 autoimmune lymphoproliferative syndrome
efo ORPHANET:3469 Common variable immunodeficiency DOID:12177 common variable immunodeficiency
efo ORPHANET:3485 Axenfeld-Rieger syndrome DOID:14686 Axenfeld-Rieger syndrome
efo ORPHANET:3494 Tyrosinemia type 1 DOID:0050726 tyrosinemia type I
efo ORPHANET:3528 Distal myopathy DOID:11720 distal muscular dystrophy
efo ORPHANET:3529 Hyperoxaluria DOID:2977 primary hyperoxaluria
efo ORPHANET:355 Galactosemia DOID:9870 galactosemia
efo ORPHANET:3552 Denys-Drash syndrome DOID:3764 Denys-Drash syndrome
efo ORPHANET:3556 Isolated nonketotic hyperglycinemia DOID:9268 glycine encephalopathy
efo ORPHANET:3557 Propionic acidemia DOID:14701 propionic acidemia
efo ORPHANET:3559 Leukocyte adhesion deficiency DOID:6612 leukocyte adhesion deficiency
efo ORPHANET:3560 Familial melanoma DOID:6846 familial melanoma
efo ORPHANET:3565 Congenital dyserythropoietic anemia DOID:1338 congenital dyserythropoietic anemia
efo ORPHANET:3567 Rhizomelic chondrodysplasia punctata DOID:2580 rhizomelic chondrodysplasia punctata
efo ORPHANET:3568 Cartilage-hair hypoplasia DOID:0080022 McKusick type metaphyseal dysplasia
efo ORPHANET:3568 Cartilage-hair hypoplasia DOID:14773 cartilage-hair hypoplasia
efo ORPHANET:3569 Cutis laxa DOID:3144 cutis laxa
efo ORPHANET:3574 Smith-Lemli-Opitz syndrome DOID:14692 Smith-Lemli-Opitz syndrome
efo ORPHANET:3577 Gamma aminobutyric acid transaminase deficiency DOID:0060174 GABA aminotransferase deficiency
efo ORPHANET:360 Incontinentia pigmenti DOID:12305 Bloch-Sulzberger syndrome
efo ORPHANET:3616 Frasier syndrome DOID:0050438 Frasier syndrome
efo ORPHANET:3619 Familial benign chronic pemphigus DOID:0050429 Hailey-Hailey disease
efo ORPHANET:3643 Early onset torsion dystonia DOID:11910 dystonia musculorum deformans
efo ORPHANET:3651 Benign familial infantile seizures DOID:0060169 benign familial infantile epilepsy
efo ORPHANET:3653 Hemoglobin C disease DOID:2859 hemoglobin C disease
efo ORPHANET:3654 Hemoglobin E disease DOID:5379 hemoglobin E disease
efo ORPHANET:3655 Hereditary elliptocytosis DOID:2373 hereditary elliptocytosis
efo ORPHANET:367 Bethlem myopathy DOID:0050663 Bethlem myopathy
efo ORPHANET:3700 Osteopetrosis DOID:13533 osteopetrosis
efo ORPHANET:3712 Syringomyelia DOID:327 syringomyelia
efo ORPHANET:3726 Nephrogenic diabetes insipidus DOID:12387 nephrogenic diabetes insipidus
efo ORPHANET:3728 Pseudoxanthoma elasticum DOID:2738 pseudoxanthoma elasticum
efo ORPHANET:3768 Langerhans cell histiocytosis DOID:2571 Langerhans-cell histiocytosis
efo ORPHANET:38 Sandhoff disease DOID:3323 Sandhoff disease
efo ORPHANET:381 Refsum disease DOID:10582 Refsum disease
efo ORPHANET:392 Nail-patella syndrome DOID:9467 nail-patella syndrome
efo ORPHANET:394 Aarskog-Scott syndrome DOID:6683 Aarskog-Scott syndrome
efo ORPHANET:396 Acanthosis nigricans DOID:3138 acanthosis nigricans
efo ORPHANET:399 Isovaleric acidemia DOID:14753 isovaleric acidemia
efo ORPHANET:402 4-hydroxybutyricaciduria DOID:0060175 succinic semialdehyde dehydrogenase deficiency
efo ORPHANET:403 Mevalonic aciduria DOID:0050452 mevalonic aciduria
efo ORPHANET:405 Acrocallosal syndrome DOID:9250 acrocallosal syndrome
efo ORPHANET:408 Acromegaly DOID:2449 acromegaly
efo ORPHANET:411 Alkaptonuria DOID:0050714 alcaptonuria
efo ORPHANET:411 Alkaptonuria DOID:9270 alkaptonuria
efo ORPHANET:417 Argininemia DOID:9278 hyperargininemia
efo ORPHANET:42 Recessive X-linked ichthyosis DOID:1700 X-linked ichthyosis
efo ORPHANET:422 Sheldon-Hall syndrome DOID:0050646 distal arthrogryposis
efo ORPHANET:429 Blackfan-Diamond disease DOID:1339 Diamond-Blackfan anemia
efo ORPHANET:430 Bloom syndrome DOID:2717 bloom syndrome
efo ORPHANET:431 Caffey disease DOID:4257 Caffey disease
efo ORPHANET:432 Chronic mucocutaneous candidiasis DOID:2058 chronic mucocutaneous candidiasis
efo ORPHANET:437 Cholestasis - lymphedema DOID:6691 Aagenaes syndrome
efo ORPHANET:44 Turner syndrome DOID:3491 Turner syndrome
efo ORPHANET:443 Cleidocranial dysplasia DOID:13994 cleidocranial dysplasia
efo ORPHANET:45 Friedreich ataxia DOID:12705 Friedreich ataxia
efo ORPHANET:4510 Best disease DOID:0050661 vitelliform macular dystrophy
efo ORPHANET:4511 Congenital factor XI deficiency DOID:2229 factor XI deficiency
efo ORPHANET:459 Argininosuccinic aciduria DOID:14755 argininosuccinic aciduria