disease_name,disease_id serum amyloid A amyloidosis,DOID:0080936 erythroleukemia,DOID:0080916 spondylometaphyseal dysplasia Sedaghatian type,DOID:0112298 cerebrooculofacioskeletal syndrome 2,DOID:0080912 bilateral frontoparietal polymicrogyria,DOID:0080922 cerebrooculofacioskeletal syndrome 3,DOID:0080913 sarcosinemia,DOID:0112307 cerebrooculofacioskeletal syndrome 1,DOID:0080911 polymicrogyria,DOID:0080918 Cockayne syndrome A,DOID:0080907 Mahvash Disease,DOID:0112306 spermatogenic failure 53,DOID:0112279 primary ovarian insufficiency 19,DOID:0112278 cerebrooculofacioskeletal syndrome 4,DOID:0080914 bilateral perisylvian polymicrogyria,DOID:0080924 Cockayne syndrome B,DOID:0080908 spondyloepiphyseal dysplasia Stanescu type,DOID:0112281 "spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis",DOID:0112290 spondylometaphyseal dysplasia with corneal dystrophy,DOID:0112303 primary localized cutaneous amyloidosis 1,DOID:0080930 developmental and epileptic encephalopathy 93,DOID:0112275 neurodevelopmental disorder with involuntary movements,DOID:0112276 spondyloepiphyseal dysplasia,DOID:0112280 spondyloepiphyseal dysplasia Kondo-Fu type,DOID:0112283 bilateral parasagittal parieto-occipital polymicrogyria,DOID:0080923 spondylometaphyseal dysplasia Megarbane-Dagher-Melike type,DOID:0112304 wild-type amyloidosis,DOID:0080937 axial spondylometaphyseal dysplasia,DOID:0112299 cytochrome P450 oxidoreductase deficiency,DOID:0080925 spondylometaphyseal dysplasia with cone-rod dystrophy,DOID:0112300 immunodeficiency 79,DOID:0112277 dialysis-related amyloidosis,DOID:0080928 spondyloepiphyseal dysplasia tarda,DOID:0112284 spondylometaphyseal dysplasia corner fracture type,DOID:0112297 immunoglobulin light chain amyloidosis,DOID:0080933 7q11.23 duplication syndrome,DOID:0080926 primary localized cutaneous amyloidosis 3,DOID:0080932 spondyloepiphyseal dysplasia Kimberley type,DOID:0112282 primary localized cutaneous amyloidosis 2,DOID:0080931 visual impairment and progressive phthisis bulbi,DOID:0070356 cerebellar ataxia type 42,DOID:0111742 cerebellar ataxia type 47,DOID:0111743 cerebellar ataxia type 41,DOID:0111744 cerebellar ataxia type 43,DOID:0111745 cerebellar ataxia type 48,DOID:0111746 mitochondrial complex V (ATP synthase) deficiency nuclear type 6,DOID:0111749 cataract 47,DOID:0070353 stress-induced childhood-onset neurodegeneration with variable ataxia and seizures,DOID:0070352 nephrotic syndrome type 20,DOID:0070357 Y-linked deafness 2,DOID:0111758 cataract 48,DOID:0070354 X-linked panhypopituitarism,DOID:0111779 "46,XY sex reversal 1",DOID:0111778 "46,XY sex reversal 9",DOID:0111770 "46,XY sex reversal 8",DOID:0111773 "46,XY sex reversal 3",DOID:0111772 "46,XY sex reversal 7",DOID:0111774 "46,XY sex reversal 2",DOID:0111777 "46,XY sex reversal 5",DOID:0111776 otopalatodigital syndrome spectrum disorder,DOID:0111782 otopalatodigital syndrome type 1,DOID:0111783 urolithiasis,DOID:0080653 calcium oxalate nephrolithiasis,DOID:0080652 multisystem proteinopathy,DOID:070355 Melnick-Needles syndrome,DOID:0111788 Frank-Ter Haar syndrome,DOID:0111789 otopalatodigital syndrome type 2,DOID:0111784 frontometaphyseal dysplasia,DOID:0111785 frontometaphyseal dysplasia 1,DOID:0111786 frontometaphyseal dysplasia 2,DOID:0111787 TARP syndrome,DOID:0111780 Waisman syndrome,DOID:0111781 X-linked properdin deficiency,DOID:0111768 "46,XY sex reversal 6",DOID:0111769 X-linked VACTERL association,DOID:0111766 X-linked thrombocytopenia with beta-thalassemia,DOID:0111767 "46,XX sex reversal 4",DOID:0111764 X-linked cardiac valvular dysplasia,DOID:0111765 "46,XX sex reversal",DOID:0111760 X-linked deafness 6,DOID:0111740 X-linked deafness 5,DOID:0111741 familial episodic pain syndrome,DOID:0111728 familial episodic pain syndrome 1,DOID:0111729 encephalopathy due to defective mitochondrial and peroxisomal fission 1,DOID:0070347 amelogenesis imperfecta type 3C,DOID:0111722 Jacobsen Syndrome,DOID:0111723 amelogenesis imperfecta type 3,DOID:0111721 geleophysic dysplasia 2,DOID:0111726 geleophysic dysplasia 3,DOID:0111727 geleophysic dysplasia,DOID:0111724 geleophysic dysplasia 1,DOID:0111725 spinal muscular atrophy with lower extremity predominant 1,DOID:0070351 X-linked deafness 2,DOID:0111737 Middle East respiratory syndrome,DOID:0080642 aminoglycoside-induced deafness,DOID:0111734 Eiken syndrome,DOID:0111732 spinal muscular atrophy with lower extremity predominant 2B,DOID:0070350 "cerebellar hyplasia/atrophy, epilepsy, and global developmental delay",DOID:0070339 cryptophthalmia,DOID:0111716 familial episodic pain syndrome 3,DOID:0111731 cerebellar hypoplasia,DOID:0070338 pancreatic hypoplasia-diabetes-congenital heart disease syndrome,DOID:0111733 "neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies",DOID:0070346 B-cell acute lymphoblastic leukemia,DOID:0080638 vertebral anomalies and variable endocrine and T-cell dysfunction,DOID:0070345 adult-onset type II citrullinemia,DOID:0070342 classic citrullinemia,DOID:0070340 neonatal-onset type II citrullinemia,DOID:0070341 isolated cryptophthalmia,DOID:0111717 B-lymphoblastic leukemia/lymphoma,DOID:0080630 X-linked deafness 1,DOID:0111739 X-linked deafness 7,DOID:0111738 spinal muscular atrophy with lower extremity predominant,DOID:0070348 spinal muscular atrophy with lower extremity predominant 2A,DOID:0070349 X-linked deafness 4,DOID:0111735 familial episodic pain syndrome 2,DOID:0111730 gallbladder cancer,DOID:3121 Cytomegalovirus retinitis,DOID:0080160 lupus nephritis,DOID:0080162 myeloid and lymphoid neoplasms associated with PDGFRA rearrangement,DOID:0080165 "myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1",DOID:0080164 megacolon,DOID:11372 Coffin-Siris syndrome 3,DOID:0070045 Coffin-Siris syndrome 2,DOID:0070044 Schuurs-Hoeijmakers Syndrome,DOID:0070047 Coffin-Siris syndrome 4,DOID:0070046 autosomal dominant intellectual developmental disorder 11,DOID:0070041 autosomal dominant intellectual developmental disorder 10,DOID:0070040 autosomal dominant intellectual developmental disorder 13,DOID:0070043 Coffin-Siris syndrome 1,DOID:0070042 autosomal dominant intellectual developmental disorder 19,DOID:0070049 GAND syndrome,DOID:0070048 neuronal ceroid lipofuscinosis 11,DOID:0110732 neuronal ceroid lipofuscinosis 6B,DOID:0110730 neurodegeneration with brain iron accumulation 2b,DOID:0110736 neurodegeneration with brain iron accumulation 3,DOID:0110737 neurodegeneration with brain iron accumulation,DOID:0110734 vascular dementia,DOID:8725 neurodegeneration with brain iron accumulation 4,DOID:0110738 buphthalmos,DOID:11211 Parkinson's disease,DOID:14330 sensory system cancer,DOID:0060116 nervous system benign neoplasm,DOID:0060115 psoriasis,DOID:8893 thoracic disease,DOID:0060118 pharynx cancer,DOID:0060119 prostate disease,DOID:47 malignant hyperthermia,DOID:8545 "Hodgkin's lymphoma, lymphocytic-histiocytic predominance",DOID:8543 Sezary's disease,DOID:8541 optic nerve neoplasm,DOID:3419 male reproductive system disease,DOID:48 monocular esotropia,DOID:10293 aromatase excess syndrome,DOID:0090122 aromatic L-amino acid decarboxylase deficiency,DOID:0090123 neurogenic-type arthrogryposis multiplex congenita-2,DOID:0090124 brain small vessel disease 1,DOID:0090125 branched-chain keto acid dehydrogenase kinase deficiency,DOID:0090126 camptodactyly-arthropathy-coxa vara-pericarditis syndrome,DOID:0090127 Carvajal syndrome,DOID:0090128 carnitine palmitoyltransferase I deficiency,DOID:0090129 aortic valve stenosis,DOID:1712 atrial heart septal defect,DOID:1882 esophagitis,DOID:11963 primary systemic mycosis,DOID:0050292 hepatitis C,DOID:1883 megaesophagus,DOID:13186 gout,DOID:13189 serine deficiency,DOID:0050721 brain edema,DOID:4724 bile duct carcinoma,DOID:4897 juvenile myoclonic epilepsy,DOID:4890 fragile X-associated tremor/ataxia syndrome,DOID:0050879 PSPH deficiency,DOID:0050724 follicular lymphoma,DOID:0050873 fibroma,DOID:0050871 Caroli disease,DOID:0050876 schizophrenia,DOID:5419 schizoaffective disorder,DOID:5418 glycogen metabolism disorder,DOID:0050728 neutral lipid storage disease, pancreatic cystadenoma,DOID:3918 agnosia,DOID:4090 neovascular inflammatory vitreoretinopathy,DOID:9719 familial hyperinsulinemic hypoglycemia 2,DOID:0070218 nephrotic syndrome type 2,DOID:0080379 protein-losing enteropathy,DOID:10611 congenital diaphragmatic hernia,DOID:3827 hereditary lymphedema IA,DOID:0070210 hereditary lymphedema I,DOID:0070212 familial hyperinsulinemic hypoglycemia 7,DOID:0070214 familial hyperinsulinemic hypoglycemia 4,DOID:0070215 familial hyperinsulinemic hypoglycemia 3,DOID:0070216 familial hyperinsulinemic hypoglycemia 6,DOID:0070217 medulloblastoma,DOID:0050902 Carey-Fineman-Ziter syndrome,DOID:0080194 Marinesco-Sjogren syndrome,DOID:0080195 "mandibulofacial dysostosis, Guion-Almeida type",DOID:0080196 congenital muscular dystrophy with cataracts and intellectual disability,DOID:0080197 PTEN hamartoma tumor syndrome,DOID:0080191 selective IgA deficiency disease,DOID:11701 colorectal carcinoma,DOID:0080199 hyperpituitarism,DOID:2444 granulosa cell tumor,DOID:2999 testicular cancer,DOID:2998 acromegaly,DOID:2449 osteoarthritis,DOID:8398 portal hypertension,DOID:10762 hypertension,DOID:10763 ovarian disease,DOID:1100 HELLP syndrome,DOID:13133 myoepithelioma,DOID:2661 borna disease,DOID:5154 autosomal dominant nonsyndromic deafness 7,DOID:0110591 maturity-onset diabetes of the young type 10,DOID:0111108 maturity-onset diabetes of the young type 11,DOID:0111109 optic disk drusen,DOID:13561 maturity-onset diabetes of the young type 3,DOID:0111102 maturity-onset diabetes of the young type 4,DOID:0111103 maturity-onset diabetes of the young type 2,DOID:0111100 maturity-onset diabetes of the young type 5,DOID:0111101 maturity-onset diabetes of the young type 7,DOID:0111106 maturity-onset diabetes of the young type 9,DOID:0111107 maturity-onset diabetes of the young type 6,DOID:0111104 maturity-onset diabetes of the young type 8,DOID:0111105 autosomal recessive nonsyndromic deafness 48,DOID:0110505 autosomal recessive nonsyndromic deafness 49,DOID:0110506 autosomal recessive nonsyndromic deafness 44,DOID:0110501 autosomal recessive nonsyndromic deafness 42,DOID:0110500 autosomal recessive nonsyndromic deafness 53,DOID:0110509 congenital generalized lipodystrophy type 3,DOID:0111137 blood protein disease,DOID:620 complement deficiency,DOID:626 severe combined immunodeficiency,DOID:627 combined T cell and B cell immunodeficiency,DOID:628 "T-cell immunodeficiency, congenital alopecia, and nail dystrophy",DOID:0060769 neurodegeneration with brain iron accumulation 5,DOID:0110739 focal segmental glomerulosclerosis 8,DOID:0111133 focal segmental glomerulosclerosis 7,DOID:0111132 focal segmental glomerulosclerosis 6,DOID:0111131 focal segmental glomerulosclerosis 5,DOID:0111130 Smith-Magenis syndrome,DOID:0060768 acute leukemia,DOID:12603 Noonan syndrome with multiple lentigines,DOID:14291 diabetic macular edema,DOID:9191 primary ciliary dyskinesia 21,DOID:0110596 spastic quadriplegic cerebral palsy,DOID:10970 membranous glomerulonephritis,DOID:10976 thrombocytopenia,DOID:1588 subvalvular aortic stenosis,DOID:5805 hydrophthalmos,DOID:11212 rheumatic fever,DOID:1586 avoidant personality disorder,DOID:1509 candidiasis,DOID:1508 steroid-induced glaucoma,DOID:9946 lymph node disease,DOID:9942 pollen allergy,DOID:0060497 respiratory allergy,DOID:0060496 shellfish allergy,DOID:0060495 SPOAN syndrome,DOID:0060491 Schimke immuno-osseous dysplasia,DOID:0060490 amelogenesis imperfecta type 3B,DOID:0080243 Hermansky-Pudlak syndrome 3,DOID:0060541 primary ciliary dyskinesia 22,DOID:0110597 Hermansky-Pudlak syndrome 2,DOID:0060540 Hermansky-Pudlak syndrome 5,DOID:0060543 Hermansky-Pudlak syndrome 4,DOID:0060542 Askin's tumor,DOID:0050608 acrodermatitis enteropathica,DOID:0050605 acrocapitofemoral dysplasia,DOID:0050604 acrokeratosis verruciformis,DOID:0050606 ADULT syndrome,DOID:0050601 ABCD syndrome,DOID:0050600 acheiropody,DOID:0050603 triple-A syndrome,DOID:0050602 Hermansky-Pudlak syndrome 9,DOID:0060547 histiocytic and dendritic cell cancer,DOID:5621 keratoconjunctivitis,DOID:9368 periodontitis,DOID:824 myocarditis,DOID:820 hair follicle neoplasm,DOID:5375 Costello syndrome,DOID:0050469 aspartylglucosaminuria,DOID:0050461 Wolf-Hirschhorn syndrome,DOID:0050460 campomelic dysplasia,DOID:0050463 Antley-Bixler syndrome with disordered steroidogenesis,DOID:0050462 Muir-Torre syndrome,DOID:0050465 chronic fatigue syndrome,DOID:8544 erythrokeratodermia variabilis,DOID:0050467 Loeys-Dietz syndrome,DOID:0050466 somatostatinoma,DOID:4430 breast carcinoma,DOID:3459 breast adenocarcinoma,DOID:3458 skin carcinoma,DOID:3451 cutaneous Paget's disease,DOID:3450 brain infarction,DOID:3454 invasive lobular carcinoma,DOID:3457 hyperthyroxinemia,DOID:2855 Huntington's disease,DOID:12858 choreatic disease,DOID:12859 pulmonary edema,DOID:11396 adult respiratory distress syndrome,DOID:11394 type 1 diabetes mellitus 22,DOID:0110759 scurvy,DOID:13724 X-linked dyskeratosis congenita,DOID:0070025 autosomal recessive dyskeratosis congenita 6,DOID:0070024 type 1 diabetes mellitus 12,DOID:0110751 APP-related cerebral amyloid angiopathy,DOID:0070028 type 1 diabetes mellitus 20,DOID:0110757 Hodgkin's lymphoma,DOID:8567 gonadal disease,DOID:2277 pharyngitis,DOID:2275 distal 10q deletion syndrome,DOID:0060390 chromosome 15q13.3 microdeletion syndrome,DOID:0060394 chromosome 15q24 deletion syndrome,DOID:0060395 retinal telangiectasia,DOID:7736 uterine carcinosarcoma,DOID:6171 pantothenate kinase-associated neurodegeneration,DOID:3981 Hermansky-Pudlak syndrome 1,DOID:0060539 hepatoid adenocarcinoma,DOID:0060534 Warsaw breakage syndrome,DOID:0060535 mitochondrial complex I deficiency,DOID:0060536 mitochondrial complex II deficiency,DOID:0060537 laryngostenosis,DOID:11527 persistent Mullerian duct syndrome,DOID:0050791 piebaldism,DOID:3263 autosomal dominant hypocalcemia 2,DOID:0090108 autosomal dominant hypocalcemia,DOID:0090109 BH4-deficient hyperphenylalaninemia A,DOID:0090106 autosomal dominant hypocalcemia 1,DOID:0090107 Huntington's disease-like 2,DOID:0090104 autosomal recessive hypercholesterolemia,DOID:0090105 autosomal dominant macrothrombocytopenia TUBB1-related,DOID:0090102 Huntington's disease-like 1,DOID:0090103 lethal congenital glycogen storage disease of heart,DOID:0090101 oral submucous fibrosis,DOID:5773 peripheral nervous system neoplasm,DOID:1192 cherubism,DOID:1856 anterior horn cell disease,DOID:4873 mongolian spot,DOID:4702 bronchiolitis obliterans,DOID:2799 centronuclear myopathy,DOID:14717 biotin deficiency,DOID:0050810 congenital adrenal hyperplasia,DOID:0050811 "spondyloepimetaphyseal dysplasia, Pakistani type",DOID:0050812 temtamy preaxial brachydactyly syndrome,DOID:0050814 urofacial syndrome,DOID:0050816 transcobalamin II deficiency,DOID:0050818 Norum disease,DOID:1391 rectum cancer,DOID:1993 rectum adenocarcinoma,DOID:1996 pseudopapilledema,DOID:1392 macroglobulinemia,DOID:9080 irritable bowel syndrome,DOID:9778 bowel dysfunction,DOID:9779 developmental and epileptic encephalopathy 44,DOID:0080424 developmental and epileptic encephalopathy 47,DOID:0080425 Phelan-McDermid syndrome,DOID:0080354 developmental and epileptic encephalopathy 40,DOID:0080427 developmental and epileptic encephalopathy 62,DOID:0080420 developmental and epileptic encephalopathy 11,DOID:0080421 Dravet syndrome,DOID:0080422 benign recurrent intrahepatic cholestasis 1,DOID:0070231 developmental and epileptic encephalopathy 45,DOID:0080428 developmental and epileptic encephalopathy 24,DOID:0080429 primary coenzyme Q10 deficiency 1,DOID:0070238 primary coenzyme Q10 deficiency 2,DOID:0070239 blood group incompatibility,DOID:4176 retinal vascular disease,DOID:2462 psychotic disorder,DOID:2468 transient bullous dermolysis of the newborn,DOID:0111345 epidermolysis bullosa simplex with mottled pigmentation,DOID:0111346 epidermolysis bullosa with congenital localized absence of skin and deformity of nails,DOID:0111347 dominant optic atrophy plus syndrome,DOID:0111340 primary failure of tooth eruption,DOID:0111341 dermatopathia pigmentosa reticularis,DOID:0111342 lateral meningocele syndrome,DOID:0111343 gestational trophoblastic neoplasm,DOID:3590 epithelioid trophoblastic tumor,DOID:3593 choriocarcinoma,DOID:3594 hereditary desmoid disease,DOID:0111349 placental site trophoblastic tumor,DOID:3596 perivascular epithelioid cell tumor,DOID:2643 ovarian germ cell monodermal and highly specialized teratoma,DOID:2641 struma ovarii,DOID:2640 benign mesothelioma,DOID:2645 Borst-Jadassohn intraepidermal carcinoma,DOID:7039 camptodactyly-tall stature-scoliosis-hearing loss syndrome,DOID:0111160 familial adult myoclonic epilepsy 4,DOID:0111693 epidermal nevus,DOID:0111162 molybdenum cofactor deficiency type B,DOID:0111163 molybdenum cofactor deficiency type A,DOID:0111164 molybdenum cofactor deficiency,DOID:0111165 molybdenum cofactor deficiency type C,DOID:0111166 Dyggve-Melchior-Clausen disease,DOID:0111167 sepiapterin reductase deficiency,DOID:0111168 subcortical band heterotopia,DOID:0111169 proprotein convertase 1/3 deficiency,DOID:0111698 Van den Ende-Gupta syndrome,DOID:0111699 autosomal dominant nonsyndromic deafness 36,DOID:0110563 autosomal dominant nonsyndromic deafness 41,DOID:0110567 autosomal dominant nonsyndromic deafness 40,DOID:0110566 dermatophytosis,DOID:8913 autosomal dominant nonsyndromic deafness 44,DOID:0110569 amblyopia,DOID:10376 strabismic amblyopia,DOID:10375 ectropion,DOID:1570 plasma protein metabolism disease,DOID:2345 normal pressure hydrocephalus,DOID:1572 communicating hydrocephalus,DOID:1573 abdominal aortic aneurysm,DOID:7693 rheumatic disease,DOID:1575 limited scleroderma,DOID:1577 leukocyte adhesion deficiency,DOID:6612 hypertrophic cardiomyopathy 1,DOID:0110307 peptic esophagitis,DOID:13976 measles,DOID:8622 nephritis,DOID:10952 ichthyosis,DOID:1697 congenital hypoplastic anemia,DOID:1342 pure red-cell aplasia,DOID:1340 hypertrophic cardiomyopathy 2,DOID:0110308 lymphoproliferative syndrome 1,DOID:0060707 X-linked lymphoproliferative syndrome 2,DOID:0060706 X-linked lymphoproliferative syndrome 1,DOID:0060705 lymphoproliferative syndrome,DOID:0060704 Muenke Syndrome,DOID:0060703 familial hypocalciuric hypercalcemia 3,DOID:0060702 familial hypocalciuric hypercalcemia 2,DOID:0060701 familial hypocalciuric hypercalcemia 1,DOID:0060700 lymphoproliferative syndrome 2,DOID:0060708 Joubert syndrome 10,DOID:0110981 Joubert syndrome 1,DOID:0110980 Joubert syndrome 14,DOID:0110983 Joubert syndrome 13,DOID:0110982 Joubert syndrome 16,DOID:0110985 Joubert syndrome 15,DOID:0110984 Joubert syndrome 18,DOID:0110987 Joubert syndrome 17,DOID:0110986 Joubert syndrome 20,DOID:0110989 Joubert syndrome 2,DOID:0110988 toxoplasmosis,DOID:9965 carotenemia,DOID:9969 urethral disease,DOID:732 hereditary nonpolyposis colorectal cancer type 2,DOID:0070274 Bethlem myopathy,DOID:0050663 bestrophinopathy,DOID:0050662 vitelliform macular dystrophy,DOID:0050661 Beare-Stevenson cutis gyrata syndrome,DOID:0050660 Bietti crystalline corneoretinal dystrophy,DOID:0050664 penile disease,DOID:1529 choroid plexus carcinoma,DOID:5648 colon carcinoma,DOID:1520 enthesopathy,DOID:204 hereditary multiple exostoses,DOID:206 cocaine abuse,DOID:809 osteomalacia,DOID:10573 exanthem,DOID:0050486 multinodular goiter,DOID:0050489 cervical adenocarcinoma,DOID:3702 brachial plexus neuropathy,DOID:3690 Menkes disease,DOID:1838 Kawasaki disease,DOID:13378 alpha 1-antitrypsin deficiency,DOID:13372 mononeuritis multiplex,DOID:1835 diabetic ketoacidosis,DOID:1837 temporal arteritis,DOID:13375 Graves' disease,DOID:12361 malaria,DOID:12365 rhizomelic chondrodysplasia punctata,DOID:2580 laryngeal squamous cell carcinoma,DOID:2876 endometrial adenocarcinoma,DOID:2870 endometrial carcinoma,DOID:2871 "asthma, nasal polyps, and aspirin intolerance",DOID:0111579 Gillespie syndrome,DOID:0111578 dehydrated hereditary stomatocytosis 2,DOID:0111577 dehydrated hereditary stomatocytosis 1,DOID:0111576 dehydrated hereditary stomatocytosis,DOID:0111575 autosomal recessive woolly hair 3,DOID:0111574 autosomal dominant woolly hair,DOID:0111573 familial woolly hair syndrome,DOID:0111572 Weyers acrofacial dysostosis,DOID:0111571 snowflake vitreoretinal degeneration,DOID:0111570 Seckel syndrome 8,DOID:0070009 Seckel syndrome 10,DOID:0070008 premature ejaculation,DOID:13709 3-methylglutaconic aciduria type 8,DOID:0070000 blastoma,DOID:0070003 3-methylglutaconic aciduria type 9,DOID:0070002 Seckel syndrome 9,DOID:0070005 myeloid neoplasm,DOID:0070004 Seckel syndrome 1,DOID:0070007 Seckel syndrome 6,DOID:0070006 hereditary spastic paraplegia 26,DOID:0110777 hereditary spastic paraplegia 23,DOID:0110774 hereditary spastic paraplegia 2,DOID:0110773 hereditary spastic paraplegia 17,DOID:0110770 hereditary spastic paraplegia 18,DOID:0110771 acute megakaryocytic leukemia,DOID:8761 arteriosclerosis obliterans,DOID:5160 cervix disease,DOID:2253 osteochondrodysplasia,DOID:2256 cataract,DOID:83 osteochondritis dissecans,DOID:84 chronic kidney disease,DOID:784 placenta disease,DOID:780 end stage renal disease,DOID:783 childhood leukemia,DOID:7757 double outlet right ventricle,DOID:6406 mitral valve stenosis,DOID:1754 facial nerve disease,DOID:1756 fish allergy,DOID:0060513 peach allergy,DOID:0060510 bile duct adenocarcinoma,DOID:4896 kidney osteogenic sarcoma,DOID:5983 pemphigoid gestationis,DOID:14482 sporotrichosis,DOID:14484 uveitis,DOID:13141 hepatic coma,DOID:12550 hemolytic-uremic syndrome,DOID:12554 Duane retraction syndrome,DOID:12557 acute kidney tubular necrosis,DOID:12556 idiopathic juvenile osteoporosis,DOID:12559 chronic progressive external ophthalmoplegia,DOID:12558 pleomorphic xanthoastrocytoma,DOID:4852 choanal atresia,DOID:9574 large cell neuroendocrine carcinoma,DOID:0050872 Weaver syndrome,DOID:14731 hepatoblastoma,DOID:687 craniofrontonasal syndrome,DOID:14737 hereditary angioedema,DOID:14735 gastric adenocarcinoma,DOID:3717 acrodysostosis,DOID:14669 pulmonary venoocclusive disease,DOID:5453 retinal detachment,DOID:5327 pancreatic agenesis,DOID:0050877 secretory meningioma,DOID:4588 benign meningioma,DOID:4587 Charcot-Marie-Tooth disease X-linked dominant 1,DOID:0110209 orofacial cleft 10,DOID:0080403 orofacial cleft 8,DOID:0080401 orofacial cleft 11,DOID:0080404 orofacial cleft 15,DOID:0080408 amelogenesis imperfecta hypomaturation type 2A4,DOID:0110062 adrenal cortical hypofunction,DOID:10493 peritoneal mesothelioma,DOID:1788 prolymphocytic leukemia,DOID:1039 segmental dystonia,DOID:0050838 focal dystonia,DOID:0050836 multifocal dystonia,DOID:0050837 CHARGE syndrome,DOID:0050834 generalized dystonia,DOID:0050835 orotic aciduria,DOID:0050833 peripheral artery disease,DOID:0050830 familial encephalopathy with neuroserpin inclusion bodies,DOID:0050831 melanoma and neural system tumor syndrome,DOID:0111511 Erdheim-Chester disease,DOID:4329 Marshall syndrome,DOID:0111510 Ebola hemorrhagic fever,DOID:4325 metachondromatosis,DOID:0111512 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2,DOID:0111515 metatropic dysplasia,DOID:0111514 hawkinsinuria,DOID:0111362 Heinz body anemia,DOID:0111363 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome,DOID:0111360 hypotrichosis-lymphedema-telangiectasia syndrome,DOID:0111361 familial hepatic adenoma,DOID:0111366 childhood medulloblastoma,DOID:3869 Alzheimer's disease 9,DOID:0111364 benign familial hematuria,DOID:0111365 adult medulloblastoma,DOID:3864 hyperalphalipoproteinemia 1,DOID:0111369 medullomyoblastoma,DOID:3861 short-rib thoracic dysplasia 13 with or without polydactyly,DOID:0110093 short-rib thoracic dysplasia 6 with or without polydactyly,DOID:0110092 short-rib thoracic dysplasia 10 with or without polydactyly,DOID:0110091 short-rib thoracic dysplasia 7 with or without polydactyly,DOID:0110090 short-rib thoracic dysplasia 9 with or without polydactyly,DOID:0110097 short-rib thoracic dysplasia 14 with polydactyly,DOID:0110096 short-rib thoracic dysplasia 11 with or without polydactyly,DOID:0110095 short-rib thoracic dysplasia 8 with or without polydactyly,DOID:0110094 atopic dermatitis 2,DOID:0110098 isolated ectopia lentis,DOID:0111148 autosomal recessive isolated ectopia lentis 2,DOID:0111149 acquired von Willebrand syndrome,DOID:0111146 preterm premature rupture of the membranes,DOID:0111144 IGSF1 deficiency syndrome,DOID:0111140 delayed sleep phase syndrome,DOID:0111141 long QT syndrome 3,DOID:0110646 epithelioid type angiomyolipoma,DOID:3318 lymphangioleiomyomatosis,DOID:3319 bipolar disorder,DOID:3312 atopic dermatitis,DOID:3310 perivascular tumor,DOID:3316 lipoma,DOID:3315 Dubin-Johnson syndrome,DOID:12308 familial hyperinsulinemic hypoglycemia 1,DOID:0070219 primary autosomal recessive microcephaly 14,DOID:0070279 adult-onset Still's disease,DOID:14256 Down syndrome,DOID:14250 vitreoretinal dystrophy,DOID:14251 migraine,DOID:6364 acquired color blindness,DOID:13912 red color blindness,DOID:13910 achromatopsia,DOID:13911 autosomal dominant nonsyndromic deafness 1,DOID:0110541 cataract 39 multiple types,DOID:0110236 autosomal dominant nonsyndromic deafness 12,DOID:0110544 impulse control disorder,DOID:10937 borderline personality disorder,DOID:10930 obsessive-compulsive disorder,DOID:10933 obsessive-compulsive personality disorder,DOID:10932 gastroesophageal cancer,DOID:0080374 antisocial personality disorder,DOID:10939 trichorhinophalangeal syndrome type III,DOID:0080376 gastroschisis,DOID:11044 peroxisomal biogenesis disorder,DOID:0080377 X-linked cleft palate with or without ankyloglossia,DOID:0060613 NGLY1-deficiency,DOID:0060728 autosomal recessive congenital ichthyosis 11,DOID:0060720 ulnar-mammary syndrome,DOID:0060614 breast implant-associated anaplastic large cell lymphoma,DOID:0070333 monodermal teratoma,DOID:5207 inflammatory bowel disease 28,DOID:0110899 ovarian seromucinous carcinoma,DOID:6898 lung cancer,DOID:1324 sex cord-gonadal stromal tumor,DOID:192 reproductive organ cancer,DOID:193 Rh deficiency syndrome,DOID:0050641 hypochromic microcytic anemia,DOID:0050642 arterial calcification of infancy,DOID:0050644 distal arthrogryposis,DOID:0050646 atransferrinemia,DOID:0050649 atelosteogenesis,DOID:0050648 testis seminoma,DOID:5842 female reproductive system disease,DOID:229 ankylosis,DOID:227 transient cerebral ischemia,DOID:224 syndrome,DOID:225 bile duct disease,DOID:4138 pure hair and nail ectodermal dysplasia,DOID:0111655 rhabdoid cancer,DOID:3672 childhood kidney cancer,DOID:3675 kidney rhabdoid cancer,DOID:3674 trophoblastic neoplasm,DOID:4085 Ehlers-Danlos syndrome,DOID:13359 osteogenesis imperfecta,DOID:12347 Bloch-Sulzberger syndrome,DOID:12305 "myopathy, lactic acidosis, and sideroblastic anemia",DOID:0080099 myofibrillar myopathy 7,DOID:0080098 alpha-mannosidosis,DOID:3413 infant gynecomastia,DOID:11603 spheroid body myopathy,DOID:0080091 reducing body myopathy 1A,DOID:0080090 myofibrillar myopathy 2,DOID:0080093 myofibrillar myopathy 1,DOID:0080092 fungal meningitis,DOID:11608 myofibrillar myopathy 3,DOID:0080094 myofibrillar myopathy 6,DOID:0080097 myofibrillar myopathy 5,DOID:0080096 Alkuraya-Kucinskas syndrome,DOID:0111555 spondylometaphyseal dysplasia Kozlowski type,DOID:0111554 Charcot-Marie-Tooth disease type 2A2B,DOID:0111557 steatocystoma multiplex,DOID:0111556 neurogenic scapuloperoneal syndrome Kaeser type,DOID:0111551 scalp-ear-nipple syndrome,DOID:0111550 spondyloepiphyseal dysplasia Maroteaux type,DOID:0111553 scapuloperoneal spinal muscular atrophy,DOID:0111552 Charcot-Marie-Tooth disease type 2EE,DOID:0111559 Charcot-Marie-Tooth disease type 2DD,DOID:0111558 seborrheic dermatitis,DOID:8741 Sertoli-Leydig cell tumor,DOID:2997 congenital afibrinogenemia,DOID:2236 focal epilepsy,DOID:2234 germ cell cancer,DOID:2994 factor XII deficiency,DOID:2231 hypertrichosis,DOID:420 hair disease,DOID:421 congenital structural myopathy,DOID:422 myopathy,DOID:423 aortic atherosclerosis,DOID:10230 muscular atrophy,DOID:767 Brown's tendon sheath syndrome,DOID:10235 neuroblastoma,DOID:769 retinoblastoma,DOID:768 bronchitis,DOID:6132 agranulocytosis,DOID:12987 Ritscher-Schinzel syndrome 1,DOID:0060571 Ritscher-Schinzel syndrome 2,DOID:0060572 von Willebrand's disease 1,DOID:0060573 von Willebrand's disease 2,DOID:0060574 3MC syndrome 1,DOID:0060575 3MC syndrome 2,DOID:0060576 3MC syndrome 3,DOID:0060577 Noonan syndrome 1,DOID:0060578 phacogenic glaucoma,DOID:12571 urethral obstruction,DOID:12577 posterior uveitis,DOID:12574 myoepithelial carcinoma,DOID:4838 sebaceous adenocarcinoma,DOID:4839 Prader-Willi syndrome,DOID:11983 morbid obesity,DOID:11981 plasma cell leukemia,DOID:9513 adenosquamous carcinoma,DOID:4830 hypertrophic cardiomyopathy,DOID:11984 argininosuccinic aciduria,DOID:14755 vascular type Ehlers-Danlos syndrome,DOID:14756 isovaleric acidemia,DOID:14753 ovarian clear cell adenocarcinoma,DOID:5304 muscular dystrophy-dystroglycanopathy type B1,DOID:0050588 inflammatory bowel disease,DOID:0050589 trichotillomania,DOID:0050587 congenital generalized lipodystrophy,DOID:0050585 hereditary lymphedema,DOID:0050580 brachydactyly,DOID:0050581 high grade glioma,DOID:3070 giant cell glioblastoma,DOID:3074 ITM2B-related cerebral amyloid angiopathy 2,DOID:0070030 large cell carcinoma,DOID:4552 Chediak-Higashi syndrome,DOID:2935 superficial basal cell carcinoma,DOID:4300 bone giant cell tumor,DOID:4305 lung large cell carcinoma,DOID:4556 autosomal dominant intellectual developmental disorder 5,DOID:0070035 familial febrile seizures 11,DOID:0111308 eclampsia,DOID:13593 generalized epilepsy with febrile seizures plus 9,DOID:0111301 generalized epilepsy with febrile seizures plus 1,DOID:0111302 familial febrile seizures 4,DOID:0111305 developmental and epileptic encephalopathy 1,DOID:0080468 Lynch syndrome,DOID:3883 neuronal ceroid lipofuscinosis 8 northern epilepsy variant,DOID:0110724 developmental and epileptic encephalopathy 34,DOID:0080460 developmental and epileptic encephalopathy 26,DOID:0080461 developmental and epileptic encephalopathy 7,DOID:0080462 developmental and epileptic encephalopathy 33,DOID:0080463 developmental and epileptic encephalopathy 53,DOID:0080464 developmental and epileptic encephalopathy 30,DOID:0080465 developmental and epileptic encephalopathy 2,DOID:0080467 Machado-Joseph disease,DOID:1440 ossifying fibromyxoid tumor,DOID:2685 neuronal ceroid lipofuscinosis 2,DOID:0110726 autosomal dominant cerebellar ataxia,DOID:1441 congenital disorder of glycosylation type IIe,DOID:0070257 interstitial lung disease,DOID:3082 chronic obstructive pulmonary disease,DOID:3083 cystic lymphangioma,DOID:3081 gingival overgrowth,DOID:3086 gingivitis,DOID:3087 severe pre-eclampsia,DOID:13129 spinocerebellar ataxia 46,DOID:0080288 osteoporosis,DOID:11476 toxic shock syndrome,DOID:14115 developmental and epileptic encephalopathy 57,DOID:0080284 developmental and epileptic encephalopathy 58,DOID:0080285 spinocerebellar ataxia 44,DOID:0080286 spinocerebellar ataxia 45,DOID:0080287 gingival fibromatosis 5,DOID:0080280 schizophrenia 19,DOID:0080281 developmental and epileptic encephalopathy 56,DOID:0080282 developmental and epileptic encephalopathy 55,DOID:0080283 X-linked recessive hypophosphatemic rickets,DOID:0080353 polyhydramnios,DOID:8488 retinal artery occlusion,DOID:8483 rheumatic myocarditis,DOID:8481 orofacial cleft 5,DOID:0080399 age related macular degeneration 6,DOID:0110018 amenorrhea,DOID:13938 facial paralysis,DOID:13934 Leber congenital amaurosis 5,DOID:0110215 cleft soft palate,DOID:0110214 Leber congenital amaurosis 17,DOID:0110217 Leber congenital amaurosis 11,DOID:0110216 Charcot-Marie-Tooth disease X-linked recessive 5,DOID:0110210 Charcot-Marie-Tooth disease X-linked recessive 4,DOID:0110212 Brugada syndrome 2,DOID:0110219 Brugada syndrome 1,DOID:0110218 poliomyelitis,DOID:4953 follicular adenoma,DOID:6204 familial temporal lobe epilepsy 1,DOID:0060748 methylmalonic acidemia cblB type,DOID:0060743 methylmalonic acidemia cblA type,DOID:0060742 methylmalonic acidemia due to transcobalamin receptor defect,DOID:0060741 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency,DOID:0060740 Duane-radial ray syndrome,DOID:0060747 basal laminar drusen,DOID:0060746 Doyne honeycomb retinal dystrophy,DOID:0060745 Pendred Syndrome,DOID:0060744 hypogonadotropic hypogonadism 10 with or without anosmia,DOID:0090089 hypogonadotropic hypogonadism 24 without anosmia,DOID:0090088 hypogonadotropic hypogonadism 14 with or without anosmia,DOID:0090087 hypogonadotropic hypogonadism 6 with or without anosmia,DOID:0090086 hypogonadotropic hypogonadism 9 with or without anosmia,DOID:0090085 hypogonadotropic hypogonadism 5 with or without anosmia,DOID:0090084 hypogonadotropic hypogonadism 2 with or without anosmia,DOID:0090083 hypogonadotropic hypogonadism 20 with or without anosmia,DOID:0090082 hypogonadotropic hypogonadism 22 with or without anosmia,DOID:0090081 hypogonadotropic hypogonadism 16 with or without anosmia,DOID:0090080 hepatic vascular disease,DOID:272 beta-ketothiolase deficiency,DOID:14723 dementia,DOID:1307 ventricular septal defect,DOID:1657 supratentorial cancer,DOID:1659 sick sinus syndrome,DOID:13884 disease by infectious agent,DOID:0050117 angioid streaks,DOID:13401 Leigh disease,DOID:3652 pyruvate carboxylase deficiency disease,DOID:3651 lactic acidosis,DOID:3650 sialuria,DOID:3659 impotence,DOID:1875 sexual dysfunction,DOID:1876 polycystic kidney disease 2,DOID:0110859 polycystic kidney disease 1,DOID:0110858 posterior polymorphous corneal dystrophy 3,DOID:0110857 posterior polymorphous corneal dystrophy 2,DOID:0110856 posterior polymorphous corneal dystrophy 1,DOID:0110855 rhizomelic chondrodysplasia punctata type 5,DOID:0110854 rhizomelic chondrodysplasia punctata type 3,DOID:0110853 rhizomelic chondrodysplasia punctata type 2,DOID:0110852 rhizomelic chondrodysplasia punctata type 1,DOID:0110851 xeroderma pigmentosum group B,DOID:0110850 chronic pulmonary heart disease,DOID:12326 skin cancer,DOID:4159 systolic heart failure,DOID:9651 dentinogenesis imperfecta,DOID:4154 rectal prolapse,DOID:9307 mechanical strabismus,DOID:9306 nephrosclerosis,DOID:11664 Patau syndrome,DOID:11665 laryngitis,DOID:3437 blue color blindness,DOID:11661 hypophosphatemic nephrolithiasis/osteoporosis 1,DOID:0080077 Neu-Laxova syndrome 1,DOID:0080076 Neu-Laxova syndrome 2,DOID:0080075 neural tube defect,DOID:0080074 spina bifida occulta,DOID:0080073 intestinal pseudo-obstruction,DOID:0080072 mucolipidosis III alpha/beta,DOID:0080071 mucolipidosis II alpha/beta,DOID:0080070 nonsyndromic congenital nail disorder 1,DOID:0080079 hypophosphatemic nephrolithiasis/osteoporosis 2,DOID:0080078 gnathodiaphyseal dysplasia,DOID:0111533 osteoglophonic dysplasia,DOID:0111532 bilateral optic nerve hypoplasia,DOID:0111531 linear nevus sebaceous syndrome,DOID:0111530 paroxysmal extreme pain disorder,DOID:0111537 Buschke-Ollendorff syndrome,DOID:0111536 progressive osseous heteroplasia,DOID:0111535 multicentric carpotarsal osteolysis syndrome,DOID:0111534 parastremmatic dwarfism,DOID:0111539 paramyotonia congenita of Von Eulenburg,DOID:0111538 anterior segment dysgenesis 8,DOID:0080613 anterior segment dysgenesis 7,DOID:0080612 anterior segment dysgenesis 6,DOID:0080611 anterior segment dysgenesis 5,DOID:0080610 nephroma,DOID:0080615 oculocutaneous albinism type VI,DOID:0080614 isolated elevated serum creatine phosphokinase levels,DOID:0111338 glycogen storage disease III,DOID:2748 glycogen storage disease Ia,DOID:2749 blood platelet disease,DOID:2218 Glanzmann's thrombasthenia,DOID:2219 factor VII deficiency,DOID:2215 factor V deficiency,DOID:2216 Bernard-Soulier syndrome,DOID:2217 glycogen storage disease V,DOID:2746 factor XIII deficiency,DOID:2211 hemorrhagic disease,DOID:2213 liver disease,DOID:409 mouth disease,DOID:403 congenital myasthenic syndrome 10,DOID:0110668 congenital myasthenic syndrome 14,DOID:0110669 congenital myasthenic syndrome 3C,DOID:0110664 congenital myasthenic syndrome 3B,DOID:0110665 congenital myasthenic syndrome 3A,DOID:0110666 congenital myasthenic syndrome 5,DOID:0110667 congenital myasthenic syndrome 12,DOID:0110660 congenital myasthenic syndrome 20,DOID:0110661 congenital myasthenic syndrome 1B,DOID:0110662 congenital myasthenic syndrome 1A,DOID:0110663 active peptic ulcer disease,DOID:749 adenomatoid tumor,DOID:746 congenital myopathy 1A,DOID:3529 cholelithiasis,DOID:10211 triple-receptor negative breast cancer,DOID:0060081 immune system cancer,DOID:0060083 cell type benign neoplasm,DOID:0060084 organ system benign neoplasm,DOID:0060085 female reproductive organ benign neoplasm,DOID:0060086 endocrine organ benign neoplasm,DOID:0060089 childhood fibrosarcoma,DOID:3520 Budd-Chiari syndrome,DOID:11512 nephrotic syndrome type 3,DOID:0080382 cerebral convexity meningioma,DOID:6114 retinal perforation,DOID:12514 retinal ischemia,DOID:12510 Lassa fever,DOID:9537 cerebrotendinous xanthomatosis,DOID:4810 benign familial neonatal epilepsy,DOID:14777 multiple myeloma,DOID:9538 intracranial berry aneurysm,DOID:0060228 Baraitser-Winter syndrome,DOID:0060229 lethal congenital contracture syndrome,DOID:0060558 lethal congenital contracture syndrome 1,DOID:0060559 Kufor-Rakeb syndrome,DOID:0060556 ataxia with oculomotor apraxia type 3,DOID:0060557 Adams-Oliver syndrome,DOID:0060227 Maffucci syndrome,DOID:0060221 ablepharon macrostomia syndrome,DOID:0060550 poikiloderma with neutropenia,DOID:0060551 monophasic synovial sarcoma,DOID:5495 biphasic synovial sarcoma,DOID:5492 myxoid liposarcoma,DOID:5363 focal epithelial hyperplasia,DOID:5362 Charcot-Marie-Tooth disease type 2A2A,DOID:0110155 eye degenerative disease,DOID:9799 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2,DOID:0111384 hereditary choroidal atrophy,DOID:9794 Charcot-Marie-Tooth disease type 2I,DOID:0110158 Charcot-Marie-Tooth disease type 2B,DOID:0110159 hereditary spastic paraplegia 55,DOID:0110807 autosomal dominant nonsyndromic deafness,DOID:0050564 autosomal recessive nonsyndromic deafness,DOID:0050565 X-linked nonsyndromic deafness,DOID:0050566 orofacial cleft,DOID:0050567 Walker-Warburg syndrome,DOID:0050560 Lennox-Gastaut syndrome,DOID:0050561 West syndrome,DOID:0050562 nonsyndromic deafness,DOID:0050563 spondylocostal dysostosis,DOID:0050568 Seckel syndrome,DOID:0050569 tonsillitis,DOID:10456 common cold,DOID:10459 cryoglobulinemia,DOID:2917 hypersensitivity reaction type IV disease,DOID:2916 immune system disease,DOID:2914 acute pancreatitis,DOID:2913 placental abruption,DOID:9667 apparent mineralocorticoid excess syndrome,DOID:4367 cervical cancer,DOID:4362 juvenile absence epilepsy 1,DOID:0111324 juvenile myoclonic epilepsy 10,DOID:0111325 idiopathic generalized epilepsy 8,DOID:0111322 idiopathic generalized epilepsy 9,DOID:0111323 pyridoxamine 5'-phosphate oxidase deficiency,DOID:0111329 developmental and epileptic encephalopathy 66,DOID:0080446 developmental and epileptic encephalopathy 43,DOID:0080447 developmental and epileptic encephalopathy 27,DOID:0080444 developmental and epileptic encephalopathy 13,DOID:0080445 developmental and epileptic encephalopathy 41,DOID:0080442 developmental and epileptic encephalopathy 21,DOID:0080443 developmental and epileptic encephalopathy 3,DOID:0080440 developmental and epileptic encephalopathy 49,DOID:0080441 developmental and epileptic encephalopathy 48,DOID:0080448 developmental and epileptic encephalopathy 16,DOID:0080449 cicatricial pemphigoid,DOID:11656 central nervous system germ cell tumor,DOID:4439 familial hemiplegic migraine 2,DOID:0111182 familial hemiplegic migraine 3,DOID:0111183 French Canadian Leigh disease,DOID:0111180 familial hemiplegic migraine 1,DOID:0111181 "myopathy, lactic acidosis, and sideroblastic anemia 2",DOID:0111186 distal muscular dystrophy with anterior tibial onset, "myopathy, lactic acidosis, and sideroblastic anemia 1",DOID:0111185 myofibrillar myopathy 9,DOID:0111188 variegate porphyria,DOID:4346 seasonal affective disorder,DOID:0060167 von Hippel-Lindau disease,DOID:14175 central neurocytoma,DOID:14174 selective IgG deficiency disease,DOID:14176 Meckel syndrome 1,DOID:0070115 mesenchymal cell neoplasm,DOID:3350 thanatophoric dysplasia,DOID:13481 Proteus syndrome,DOID:13482 Niemann-Pick disease type C2,DOID:0070114 X-linked agammaglobulinemia,DOID:14179 amelogenesis imperfecta type 2A1,DOID:0110057 osteogenesis imperfecta type 8,DOID:0110336 amelogenesis imperfecta type 3A,DOID:0110055 amelogenesis imperfecta type 1A,DOID:0110054 amelogenesis imperfecta type 4,DOID:0110053 amelogenesis imperfecta type 1B,DOID:0110052 Alzheimer's disease 18,DOID:0110050 influenza,DOID:8469 osteogenesis imperfecta type 1,DOID:0110334 amelogenesis imperfecta type 1E,DOID:0110058 macular holes,DOID:7633 autoimmune thyroiditis,DOID:7188 pseudobulbar palsy,DOID:12680 Leber congenital amaurosis 7,DOID:0110333 hypophosphatasia,DOID:14213 dihydropyrimidine dehydrogenase deficiency,DOID:14218 renal tubular acidosis,DOID:14219 autosomal dominant nonsyndromic deafness 68,DOID:0110589 autosomal dominant nonsyndromic deafness 67,DOID:0110588 autosomal dominant nonsyndromic deafness 64,DOID:0110585 autosomal dominant nonsyndromic deafness 6,DOID:0110584 autosomal dominant nonsyndromic deafness 66,DOID:0110587 autosomal dominant nonsyndromic deafness 65,DOID:0110586 autosomal dominant nonsyndromic deafness 56,DOID:0110581 autosomal dominant limb-girdle muscular dystrophy,DOID:0110273 cataract 40,DOID:0110272 cataract 17 multiple types,DOID:0110270 autosomal recessive limb-girdle muscular dystrophy type 2C,DOID:0110277 autosomal recessive limb-girdle muscular dystrophy,DOID:0110274 autosomal recessive limb-girdle muscular dystrophy type 2E,DOID:0110279 autosomal recessive limb-girdle muscular dystrophy type 2D,DOID:0110278 X-linked juvenile retinoschisis 1,DOID:0060763 restrictive dermopathy,DOID:0060762 autosomal dominant Robinow syndrome 2,DOID:0060765 autosomal recessive Robinow syndrome,DOID:0060764 autosomal dominant Robinow syndrome 3,DOID:0060767 autosomal dominant Robinow syndrome 1,DOID:0060766 neuroma,DOID:2001 degeneration of macula and posterior pole,DOID:2007 preretinal fibrosis,DOID:2006 dilated cardiomyopathy 1W,DOID:0110446 pneumothorax,DOID:1673 cystitis,DOID:1679 monogenic disease,DOID:0050177 kidney cancer,DOID:263 hemangiopericytoma,DOID:264 pulmonary eosinophilia,DOID:9498 guanidinoacetate methyltransferase deficiency,DOID:0050799 cerebral creatine deficiency syndrome,DOID:0050798 peroxisomal acyl-CoA oxidase deficiency,DOID:0050797 cone dystrophy,DOID:0050795 multiple synostoses syndrome,DOID:0050794 short QT syndrome,DOID:0050793 multiple cutaneous and mucosal venous malformations,DOID:0050792 fibular hypoplasia and complex brachydactyly,DOID:0050790 McCune Albright syndrome,DOID:1858 intrahepatic cholestasis,DOID:1852 exocrine pancreatic insufficiency,DOID:13316 holoprosencephaly 3,DOID:0110875 holoprosencephaly 11,DOID:0110877 holoprosencephaly 7,DOID:0110876 congenital stationary night blindness 2A,DOID:0110871 congenital stationary night blindness 1A,DOID:0110870 holoprosencephaly 9,DOID:0110873 holoprosencephaly 2,DOID:0110872 holoprosencephaly 5,DOID:0110878 vitiligo,DOID:12306 benign familial infantile epilepsy,DOID:0060169 Rh isoimmunization,DOID:4175 inflammatory bowel disease 5,DOID:0110889 pulmonary emphysema,DOID:9675 oligodendroglioma,DOID:3181 autosomal recessive spinocerebellar ataxia 7,DOID:0080059 autosomal recessive spinocerebellar ataxia 14,DOID:0080058 achondrogenesis type IB,DOID:0080055 achondrogenesis type IA,DOID:0080054 autosomal recessive spinocerebellar ataxia 15,DOID:0080057 achondrogenesis type II,DOID:0080056 "acromesomelic dysplasia, Hunter-Thompson type",DOID:0080051 "acromesomelic dysplasia, Maroteaux type",DOID:0080050 Albright's hereditary osteodystrophy,DOID:0080053 "acromesomelic dysplasia, Grebe type",DOID:0080052 hypotrichosis 14,DOID:0080582 3-Methylcrotonyl-CoA carboxylase 2 deficiency,DOID:0080580 congenital myasthenic syndrome 22,DOID:0080587 Van Maldergem syndrome 2,DOID:0080586 Van Maldergem syndrome 1,DOID:0080585 autosomal dominant Wolfram syndrome,DOID:0080584 Klippel-Feil syndrome 1,DOID:0080589 agammaglobulinemia 5,DOID:0080588 bone sarcoma,DOID:0080639 Elsahy-Waters syndrome,DOID:0080631 developmental cardiac valvular defect,DOID:0080633 Fazio-Londe disease,DOID:0080632 optic disc anomalies with retinal and/or macular dystrophy,DOID:0080635 nanophthalmos,DOID:0080634 syndromic microphthalmia,DOID:0080636 chondrodysplasia punctata,DOID:2581 acatalasia,DOID:2582 agammaglobulinemia,DOID:2583 tic disorder,DOID:2769 muscle benign neoplasm,DOID:461 intramuscular hemangioma,DOID:468 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6, autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5,DOID:0111518 platelet-type bleeding disorder 17,DOID:0111049 platelet-type bleeding disorder 19,DOID:0111048 platelet-type bleeding disorder 10,DOID:0111046 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome, gray platelet syndrome,DOID:0111044 glycogen storage disease IXc,DOID:0111043 glycogen storage disease IXa,DOID:0111042 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2,DOID:0111517 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4,DOID:0111516 long QT syndrome 6,DOID:0110648 myeloid leukemia,DOID:8692 congenital muscular dystrophy due to LMNA mutation,DOID:0110640 mycosis fungoides,DOID:8691 long QT syndrome 5,DOID:0110647 long QT syndrome 1,DOID:0110644 long QT syndrome 2,DOID:0110645 left bundle branch hemiblock,DOID:10272 heart conduction disease,DOID:10273 normocytic anemia,DOID:720 cerebral malaria,DOID:14069 vascular skin disease,DOID:9540 hypospadias,DOID:10892 villonodular synovitis,DOID:9898 dendritic cell sarcoma,DOID:7849 endometrial stromal tumor,DOID:5166 cerebral degeneration,DOID:1443 Goodpasture syndrome,DOID:9808 oral squamous cell carcinoma,DOID:0050866 von Willebrand's disease,DOID:12531 tuberculous peritonitis,DOID:9801 Leber congenital amaurosis,DOID:14791 hypohidrotic ectodermal dysplasia,DOID:14793 amyotrophic lateral sclerosis type 18,DOID:0060209 amyotrophic lateral sclerosis type 11,DOID:0060202 amyotrophic lateral sclerosis type 12,DOID:0060203 amyotrophic lateral sclerosis type 9,DOID:0060200 amyotrophic lateral sclerosis type 10,DOID:0060201 amyotrophic lateral sclerosis type 15,DOID:0060206 amyotrophic lateral sclerosis type 16,DOID:0060207 frontotemporal dementia and/or amyotrophic lateral sclerosis-6,DOID:0060205 status asthmaticus,DOID:9362 amyotrophic lateral sclerosis type 6,DOID:0060198 amyotrophic lateral sclerosis type 4,DOID:0060196 amyotrophic lateral sclerosis type 5,DOID:0060197 Leber congenital amaurosis 8,DOID:0110079 visceral leishmaniasis,DOID:9146 Leber congenital amaurosis 1,DOID:0110078 Charcot-Marie-Tooth disease type X,DOID:0050542 Charcot-Marie-Tooth disease type 3,DOID:0050540 Charcot-Marie-Tooth disease type 4,DOID:0050541 congenital adrenal insufficiency,DOID:0050546 familial medullary thyroid carcinoma,DOID:0050547 hereditary sensory neuropathy,DOID:0050548 arrhythmogenic right ventricular dysplasia 8,DOID:0110076 isolated microphthalmia 8,DOID:0060841 endophthalmitis,DOID:4692 lung small cell carcinoma,DOID:5409 leprosy,DOID:1024 congenital hypothyroidism,DOID:0050328 synucleinopathy,DOID:0050890 adrenal cortical adenoma,DOID:0050891 amyloidosis,DOID:9120 acute myeloid leukemia,DOID:9119 premature menopause,DOID:10787 cutaneous leishmaniasis,DOID:9111 methemoglobinemia,DOID:10783 primary polycythemia,DOID:10780 Charcot-Marie-Tooth disease recessive intermediate A,DOID:0110201 adamantinous craniopharyngioma,DOID:3846 Farber lipogranulomatosis,DOID:0050464 focal nonepidermolytic palmoplantar keratoderma 1,DOID:0111709 astigmatism,DOID:11782 carbohydrate metabolic disorder,DOID:2978 cystic kidney disease,DOID:2975 primary hyperoxaluria,DOID:2977 renal artery obstruction,DOID:2972 Bothnian type palmoplantar keratoderma,DOID:0111707 long QT syndrome 4,DOID:0111701 obstructive hydrocephalus,DOID:14159 chondrosarcoma,DOID:3371 developmental and epileptic encephalopathy 9,DOID:0060848 osteoporosis-pseudoglioma syndrome,DOID:0060849 arrhythmogenic right ventricular dysplasia 5,DOID:0110074 arrhythmogenic right ventricular dysplasia 9,DOID:0110077 Leri-Weill dyschondrosteosis,DOID:0060847 arrhythmogenic right ventricular dysplasia 2,DOID:0110071 arrhythmogenic right ventricular dysplasia 1,DOID:0110070 hereditary neuropathy with liability to pressure palsies,DOID:0060843 intussusception,DOID:8446 intestinal volvulus,DOID:8445 paralytic ileus,DOID:8442 ileus,DOID:8440 pancreatic ductal carcinoma,DOID:3587 chromosome 2q37 deletion syndrome,DOID:0111704 oculoectodermal syndrome,DOID:0111705 oblique facial clefting 1,DOID:0111706 ankyrin-B-related cardiac arrhythmia,DOID:0111700 hereditary lymphedema ID,DOID:0070209 familial hypertryptophanemia,DOID:0111703 cataract 43,DOID:0110259 cataract 10 multiple types,DOID:0110258 cataract 15 multiple types,DOID:0110251 cataract 16 multiple types,DOID:0110250 cataract 14 multiple types,DOID:0110253 cataract 5 multiple types,DOID:0110255 cataract 21 multiple types,DOID:0110256 mitochondrial pyruvate carrier deficiency,DOID:0080363 familial partial lipodystrophy type 2,DOID:0070202 trimethylaminuria,DOID:0080361 chronic eosinophilic leukemia,DOID:0080367 familial partial lipodystrophy type 6,DOID:0070206 familial partial lipodystrophy type 4,DOID:0070205 familial partial lipodystrophy type 3,DOID:0070204 alpha-methylacyl-CoA racemase deficiency,DOID:0060602 placenta cancer,DOID:2021 isolated anhidrosis with normal sweat glands,DOID:0060603 glycogen storage disease IXb,DOID:0111041 ovarian cancer,DOID:2394 glycogen storage disease IXd,DOID:0111040 male breast cancer,DOID:1614 bone inflammation disease,DOID:3342 breast cancer,DOID:1612 alpha-2-plasmin inhibitor deficiency,DOID:0060601 malignant pleural mesothelioma,DOID:7474 aspiration pneumonia,DOID:0050152 sensory system disease,DOID:0050155 cryptogenic organizing pneumonia,DOID:0050157 idiopathic pulmonary fibrosis,DOID:0050156 lymphoid interstitial pneumonia,DOID:0050159 desquamative interstitial pneumonia,DOID:0050158 hairy cell leukemia,DOID:285 endometriosis,DOID:289 achromatopsia 4,DOID:0110010 age related macular degeneration 4,DOID:0110017 meningitis,DOID:9471 bacterial meningitis,DOID:9470 pulmonary embolism,DOID:9477 Sheehan syndrome,DOID:9476 postpartum depression,DOID:9478 Leber congenital amaurosis 2,DOID:0110016 Canavan disease,DOID:3613 retinitis,DOID:3612 thyroid gland carcinoma,DOID:3963 thyroid gland follicular carcinoma,DOID:3962 Merkel cell carcinoma,DOID:3965 Kallmann syndrome,DOID:3614 thyroid gland papillary carcinoma,DOID:3969 endometrial serous adenocarcinoma,DOID:5750 sebaceous gland neoplasm,DOID:5759 hereditary spastic paraplegia 62,DOID:0110813 hereditary spastic paraplegia 61,DOID:0110812 hereditary spastic paraplegia 6,DOID:0110811 hereditary spastic paraplegia 5A,DOID:0110810 hereditary spastic paraplegia 72, hereditary spastic paraplegia 7,DOID:0110816 hereditary spastic paraplegia 64,DOID:0110815 hereditary spastic paraplegia 63,DOID:0110814 hereditary spastic paraplegia 74,DOID:0110819 hereditary spastic paraplegia 73,DOID:0110818 pycnodysostosis,DOID:0080038 craniometaphyseal dysplasia,DOID:0080033 fibrous dysplasia,DOID:0080031 "spondyloepimetaphyseal dysplasia, Missouri type",DOID:0080030 Worth syndrome,DOID:0080037 SOST-related sclerosing bone dysplasia,DOID:0080036 schizophrenia 4,DOID:0070080 schizophrenia 9,DOID:0070085 olfactory groove meningioma,DOID:8057 macular corneal dystrophy,DOID:2565 cervicitis,DOID:2568 retinal drusen,DOID:2569 anuria,DOID:2983 psoriasis 15,DOID:0111281 psoriasis 4,DOID:0111280 psoriasis 13,DOID:0111287 psoriasis 1,DOID:0111286 synovium cancer,DOID:2706 synovitis,DOID:2703 neuromuscular disease,DOID:440 atrophic muscular disease,DOID:913 primary hyperaldosteronism,DOID:446 renal tubular transport disease,DOID:447 distal spinal muscular atrophy 2,DOID:0111065 distal spinal muscular atrophy 1,DOID:0111064 congenital bile acid synthesis defect 6,DOID:0111067 congenital bile acid synthesis defect 5,DOID:0111066 familial hypobetalipoproteinemia 2,DOID:0111061 hyperphosphatemic familial tumoral calcinosis,DOID:0111063 familial hypobetalipoproteinemia 1,DOID:0111062 congenital bile acid synthesis defect 2,DOID:0111069 congenital bile acid synthesis defect 4,DOID:0111068 primary ciliary dyskinesia 35,DOID:0110620 primary ciliary dyskinesia 17,DOID:0110621 primary ciliary dyskinesia 9,DOID:0110622 primary ciliary dyskinesia 15,DOID:0110623 primary ciliary dyskinesia 30,DOID:0110624 primary ciliary dyskinesia 20,DOID:0110625 primary ciliary dyskinesia 2,DOID:0110626 primary ciliary dyskinesia 26,DOID:0110627 primary ciliary dyskinesia 24,DOID:0110628 Wolfram syndrome 1,DOID:0110629 B-cell lymphoma,DOID:707 mature B-cell neoplasm,DOID:706 dentin dysplasia,DOID:701 mitochondrial metabolism disease,DOID:700 capillary leak syndrome,DOID:14400 Henoch-Schoenlein purpura,DOID:11123 critical illness polyneuropathy,DOID:14402 aphasia,DOID:0060046 pervasive developmental disorder,DOID:0060040 autism spectrum disorder,DOID:0060041 sexual health disorder,DOID:0060043 ureteral disease,DOID:1426 hereditary fructose intolerance syndrome,DOID:9869 ptosis,DOID:0060260 gallbladder disease,DOID:0060262 porencephaly,DOID:0060263 pontocerebellar hypoplasia,DOID:0060264 pontocerebellar hypoplasia type 1A,DOID:0060265 pontocerebellar hypoplasia type 1B,DOID:0060266 pontocerebellar hypoplasia type 2A,DOID:0060267 pontocerebellar hypoplasia type 2B,DOID:0060268 pontocerebellar hypoplasia type 2C,DOID:0060269 Nance-Horan syndrome,DOID:0060599 dilated cardiomyopathy 1O,DOID:0110451 nonphotosensitive trichothiodystrophy 4,DOID:0050528 adult spinal muscular atrophy,DOID:0050529 adult T-cell leukemia/lymphoma,DOID:0050523 maturity-onset diabetes of the young,DOID:0050524 Gamstorp-Wohlfart syndrome,DOID:0050526 spinal meningioma,DOID:1138 pituitary infarct,DOID:1130 ear cancer,DOID:5101 middle ear disease,DOID:5100 spinocerebellar ataxia type 10,DOID:0050960 spinocerebellar ataxia type 11,DOID:0050961 ocular hypertension,DOID:9282 carbamoyl phosphate synthetase I deficiency disease,DOID:9280 phenylketonuria,DOID:9281 priapism,DOID:9286 spinocerebellar ataxia type 12,DOID:0050962 spinocerebellar ataxia type 13,DOID:0050963 spinocerebellar ataxia type 14,DOID:0050964 spinocerebellar ataxia type 15,DOID:0050965 spinocerebellar ataxia type 17,DOID:0050967 autosomal dominant dyskeratosis congenita 6,DOID:0070023 fibrous histiocytoma,DOID:4415 autosomal recessive dyskeratosis congenita 5,DOID:0070022 CST3-related cerebral amyloid angiopathy,DOID:0070027 mesenchymal chondrosarcoma,DOID:4545 Revesz syndrome,DOID:0070026 basilar artery occlusion,DOID:13446 inner ear disease,DOID:2952 pulmonary tuberculosis,DOID:2957 hyperimmunoglobulin syndrome,DOID:2959 pulmonary alveolar microlithiasis,DOID:12117 combined oxidative phosphorylation deficiency 22,DOID:0111498 combined oxidative phosphorylation deficiency 37,DOID:0111499 combined oxidative phosphorylation deficiency 4,DOID:0111494 combined oxidative phosphorylation deficiency 33,DOID:0111495 combined oxidative phosphorylation deficiency 17,DOID:0111496 combined oxidative phosphorylation deficiency 34,DOID:0111497 combined oxidative phosphorylation deficiency 26,DOID:0111490 combined oxidative phosphorylation deficiency 15,DOID:0111491 combined oxidative phosphorylation deficiency 32,DOID:0111492 combined oxidative phosphorylation deficiency 12,DOID:0111493 coronary artery disease,DOID:3393 palmoplantar keratosis,DOID:3390 age related macular degeneration 7,DOID:0110019 late-onset retinal degeneration,DOID:0060869 mal de Meleda,DOID:0060862 patterned macular dystrophy 2,DOID:0060864 age related macular degeneration 1,DOID:0110014 phobic disorder,DOID:591 cleidocranial dysplasia,DOID:13994 hepatitis B,DOID:2043 angiosarcoma,DOID:0001816 autoimmune hepatitis,DOID:2048 juvenile pilocytic astrocytoma,DOID:6811 lens disease,DOID:110 pericardial effusion,DOID:118 vaginal cancer,DOID:119 spinal stenosis,DOID:6725 catecholaminergic polymorphic ventricular tachycardia 5,DOID:0060679 catecholaminergic polymorphic ventricular tachycardia 4,DOID:0060678 catecholaminergic polymorphic ventricular tachycardia 3,DOID:0060677 catecholaminergic polymorphic ventricular tachycardia 2,DOID:0060676 catecholaminergic polymorphic ventricular tachycardia 1,DOID:0060675 catecholaminergic polymorphic ventricular tachycardia,DOID:0060674 Peters anomaly,DOID:0060673 Grn-related frontotemporal lobar degeneration with Tdp43 inclusions,DOID:0060672 cerebral cavernous malformation 3,DOID:0060671 cerebral cavernous malformation 2,DOID:0060670 alpha thalassemia,DOID:1099 attention deficit hyperactivity disorder,DOID:1094 tooth disease,DOID:1091 lipid storage disease,DOID:9455 fatty liver disease, adrenal gland hyperfunction,DOID:3947 pituitary-dependent Cushing's disease,DOID:3946 Usher syndrome type 2A,DOID:0110838 optic nerve disease,DOID:1891 Usher syndrome type 1D,DOID:0110831 Usher syndrome type 1C,DOID:0110830 Usher syndrome type 1F,DOID:0110832 Usher syndrome type 1G,DOID:0110834 Usher syndrome type 1J,DOID:0110836 Pelger-Huet anomaly,DOID:9631 stomatitis,DOID:9637 bone resorption disease,DOID:0080011 bone structure disease,DOID:0080010 hyper IgE syndrome,DOID:0080545 X-linked recessive disease,DOID:0080012 physical disorder,DOID:0080015 chromosomal disease,DOID:0080014 hyperprolinemia,DOID:0080541 spina bifida,DOID:0080016 metaphyseal dysplasia,DOID:0080019 Noonan syndrome with multiple lentigines 2,DOID:0080549 Noonan syndrome with multiple lentigines 1,DOID:0080548 microphthalmia,DOID:10629 hyaline body myopathy,DOID:0111267 geroderma osteodysplasticum,DOID:0111266 Boucher-Neuhauser syndrome,DOID:0111265 Ruijs-Aalfs syndrome,DOID:0111264 combined malonic and methylmalonic acidemia,DOID:0111263 pancreatic ductal adenocarcinoma,DOID:3498 fumarase deficiency,DOID:0111261 phosphoribosylpyrophosphate synthetase superactivity,DOID:0111260 Turner syndrome,DOID:3491 Noonan syndrome,DOID:3490 autosomal dominant hyaline body myopathy,DOID:0111269 autosomal recessive hyaline body myopathy,DOID:0111268 dyskeratosis congenita,DOID:2729 capillary hemangioma,DOID:2725 dermatitis,DOID:2723 brain disease,DOID:936 viral infectious disease,DOID:934 Joubert syndrome 8,DOID:0111003 Joubert syndrome 7,DOID:0111002 Joubert syndrome 6,DOID:0111001 Joubert syndrome 5,DOID:0111000 X-linked cone-rod dystrophy 3,DOID:0111007 cone-rod dystrophy 2,DOID:0111005 Joubert syndrome 9,DOID:0111004 X-linked cone-rod dystrophy 1,DOID:0111008 Evans' syndrome,DOID:8931 chronic wasting disease,DOID:3530 autonomic neuropathy,DOID:11504 diabetic autonomic neuropathy,DOID:11503 retinitis pigmentosa 12,DOID:0110358 retinitis pigmentosa 67,DOID:0110359 primary ciliary dyskinesia 19,DOID:0110608 primary ciliary dyskinesia 23,DOID:0110609 retinitis pigmentosa 19,DOID:0110354 retinitis pigmentosa 32,DOID:0110355 retinitis pigmentosa 18,DOID:0110356 retinitis pigmentosa 35,DOID:0110357 osteogenesis imperfecta type 6,DOID:0110350 osteogenesis imperfecta type 11,DOID:0110351 retinitis pigmentosa 59,DOID:0110352 retinitis pigmentosa 20,DOID:0110353 familial juvenile hyperuricemic nephropathy,DOID:0060062 sideroblastic anemia 1,DOID:0060063 non-Hodgkin lymphoma,DOID:0060060 primary cutaneous T-cell non-Hodgkin lymphoma,DOID:0060061 autosomal recessive pyridoxine-refractory sideroblastic anemia 2,DOID:0060065 developmental and epileptic encephalopathy 37,DOID:0080435 peripheral vertigo,DOID:9847 esotropia,DOID:9840 Meniere's disease,DOID:9849 Simpson-Golabi-Behmel syndrome type 1,DOID:0060248 scoliosis,DOID:0060249 MASA syndrome,DOID:0060246 Smith-McCort dysplasia,DOID:0060247 specific language impairment,DOID:0060244 Mast syndrome,DOID:0060245 synpolydactyly,DOID:0060242 stuttering,DOID:0060243 UV-sensitive syndrome,DOID:0060240 3-M syndrome,DOID:0060241 developmental and epileptic encephalopathy 51,DOID:0080433 developmental and epileptic encephalopathy 60,DOID:0080432 infantile cerebellar-retinal degeneration,DOID:0050883 primary angle-closure glaucoma,DOID:1405 lacrimal apparatus disease,DOID:1400 ischemia,DOID:326 triosephosphate isomerase deficiency,DOID:0050884 developmental and epileptic encephalopathy 65,DOID:0080430 hereditary spherocytosis,DOID:12971 oxyphilic adenoma,DOID:5389 mucocutaneous leishmaniasis,DOID:9155 chromophobe renal cell carcinoma,DOID:4471 gas gangrene,DOID:9159 familial erythrocytosis 6,DOID:0111632 congenital sucrase-isomaltase deficiency,DOID:0111633 Lambert-Eaton myasthenic syndrome,DOID:0050214 breast ductal carcinoma,DOID:3007 invasive ductal carcinoma,DOID:3008 mitochondrial complex III deficiency nuclear type 7,DOID:0080116 "contractures, pterygia, and spondylocarpotarsal fusion syndrome",DOID:0080110 mitochondrial complex III deficiency nuclear type 1,DOID:0080111 granulomatosis with polyangiitis,DOID:12132 mitochondrial complex III deficiency nuclear type 3,DOID:0080112 factor VIII deficiency,DOID:12134 mitochondrial complex III deficiency nuclear type 4,DOID:0080113 renal hypoplasia,DOID:0080204 CAKUT,DOID:0080205 CAKUT1,DOID:0080206 CAKUT2,DOID:0080207 adenoid cystic carcinoma,DOID:0080202 childhood acute myeloid leukemia,DOID:0070323 tongue cancer,DOID:8649 non-alcoholic fatty liver disease, "sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay",DOID:0080209 hemoglobin H disease,DOID:0110031 autosomal recessive Alport syndrome,DOID:0110033 Alzheimer's disease 2,DOID:0110035 X-linked Alport syndrome,DOID:0110034 complement component 5 deficiency,DOID:8158 hypertrophic cardiomyopathy 15,DOID:0110321 hypertrophic cardiomyopathy 14,DOID:0110320 hypertrophic cardiomyopathy 16,DOID:0110322 Joubert syndrome 28,DOID:0110997 hypertrophic cardiomyopathy 18,DOID:0110324 malignant exocrine pancreas neoplasm,DOID:1795 autosomal recessive limb-girdle muscular dystrophy type 2I,DOID:0110299 autosomal recessive limb-girdle muscular dystrophy type 2N,DOID:0110298 autosomal recessive limb-girdle muscular dystrophy type 2U,DOID:0110295 autosomal recessive limb-girdle muscular dystrophy type 2T,DOID:0110294 autosomal recessive limb-girdle muscular dystrophy type 2K,DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2M,DOID:0110296 Leber congenital amaurosis 10,DOID:0110291 autosomal recessive limb-girdle muscular dystrophy type 2X,DOID:0110290 autosomal recessive limb-girdle muscular dystrophy type 2P,DOID:0110293 autosomal recessive limb-girdle muscular dystrophy type 2O,DOID:0110292 personality disorder,DOID:1510 Brugada syndrome 6,DOID:0110223 Joubert syndrome 3,DOID:0110998 pleomorphic lipoma,DOID:10192 acute monocytic leukemia,DOID:8864 dilated cardiomyopathy 1II,DOID:0110450 acute hemorrhagic leukoencephalitis,DOID:10992 squamous cell papilloma,DOID:139 autosomal recessive congenital ichthyosis,DOID:0060655 autosomal recessive congenital ichthyosis 1,DOID:0060656 MYH-9 related disease,DOID:0060651 dicarboxylic aminoaciduria,DOID:0060650 familial erythrocytosis 1,DOID:0060652 immunodeficiency-centromeric instability-facial anomalies syndrome,DOID:0090007 renal coloboma syndrome,DOID:0090006 Schwartz-Jampel syndrome 1,DOID:0090005 progressive pseudorheumatoid arthropathy of childhood,DOID:0090004 agenesis of the corpus callosum with peripheral neuropathy,DOID:0090003 Tietz syndrome,DOID:0090002 Fraser syndrome,DOID:0090001 immunodeficiency-centromeric instability-facial anomalies syndrome 2,DOID:0090009 immunodeficiency-centromeric instability-facial anomalies syndrome 1,DOID:0090008 pancytopenia,DOID:12450 central nervous system disease,DOID:331 renal glycosuria,DOID:9432 multiple intestinal atresia,DOID:14671 optic neuritis,DOID:1210 hemangioblastoma,DOID:5241 hypothyroidism,DOID:1459 corneal dystrophy,DOID:2566 familial cold autoinflammatory syndrome 4,DOID:0090065 splenic disease,DOID:2529 prostate adenocarcinoma,DOID:2526 nephrosis,DOID:2527 muscle cancer,DOID:4045 skeletal muscle cancer,DOID:4043 uveal coloboma-cleft lip and palate-intellectual disability,DOID:0111249 cerebrocostomandibular syndrome,DOID:0111248 palmoplantar keratoderma and congenital alopecia 1,DOID:0111244 hypertension and brachydactyly syndrome,DOID:0111247 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1,DOID:0111246 congenital muscular dystrophy-dystroglycanopathy type A5,DOID:0111241 congenital muscular dystrophy-dystroglycanopathy type A2,DOID:0111240 acromicric dysplasia,DOID:0111243 congenital muscular dystrophy-dystroglycanopathy type A6,DOID:0111242 congenital disorder of glycosylation Ir,DOID:0080569 congenital disorder of glycosylation Iq,DOID:0080568 congenital disorder of glycosylation Im,DOID:0080565 congenital disorder of glycosylation Il,DOID:0080564 congenital disorder of glycosylation Ip,DOID:0080567 congenital disorder of glycosylation In,DOID:0080566 congenital disorder of glycosylation Ii,DOID:0080561 congenital disorder of glycosylation Ih,DOID:0080560 congenital disorder of glycosylation Ik,DOID:0080563 congenital disorder of glycosylation Ij,DOID:0080562 vascular hemostatic disease,DOID:484 cavernous hemangioma,DOID:483 movement disease,DOID:480 hemochromatosis type 1,DOID:0111029 hemochromatosis type 4,DOID:0111028 cone-rod dystrophy 15,DOID:0111021 cone-rod dystrophy 9,DOID:0111020 cone-rod dystrophy 16,DOID:0111022 cone-rod dystrophy 19,DOID:0111025 cone-rod dystrophy 18,DOID:0111024 hemochromatosis type 2A,DOID:0111027 cone-rod dystrophy 20,DOID:0111026 Fuchs' endothelial dystrophy,DOID:11555 oculomotor nerve paralysis,DOID:11550 lysosomal storage disease,DOID:3211 Pelizaeus-Merzbacher disease,DOID:3210 Charcot-Marie-Tooth disease recessive intermediate C,DOID:0110198 Charcot-Marie-Tooth disease dominant intermediate C,DOID:0110199 Charcot-Marie-Tooth disease type 4G,DOID:0110196 Charcot-Marie-Tooth disease dominant intermediate B,DOID:0110197 Charcot-Marie-Tooth disease type 4B3,DOID:0110194 Charcot-Marie-Tooth disease type 4E,DOID:0110195 Charcot-Marie-Tooth disease type 4H,DOID:0110192 Charcot-Marie-Tooth disease type 4F,DOID:0110193 Charcot-Marie-Tooth disease type 4B2,DOID:0110190 Charcot-Marie-Tooth disease type 4B1,DOID:0110191 endocardial fibroelastosis,DOID:12929 hereditary sensory neuropathy type 1E,DOID:0070158 hereditary sensory and autonomic neuropathy type 1C,DOID:0070157 hereditary sensory neuropathy type 1D,DOID:0070156 hereditary sensory and autonomic neuropathy type 2A,DOID:0070155 hereditary sensory neuropathy type 1F,DOID:0070154 hereditary sensory and autonomic neuropathy type 8,DOID:0070153 infratentorial cancer,DOID:4706 hereditary sensory and autonomic neuropathy type 6,DOID:0070151 hereditary sensory and autonomic neuropathy type 2B,DOID:0070150 muscular dystrophy,DOID:9884 retinitis pigmentosa 55,DOID:0110370 retinitis pigmentosa 41,DOID:0110376 retinitis pigmentosa 49,DOID:0110377 retinitis pigmentosa 68,DOID:0110374 retinitis pigmentosa 40,DOID:0110375 Creutzfeldt-Jakob disease,DOID:11949 familial cold autoinflammatory syndrome 2,DOID:0090063 FG syndrome,DOID:14711 mixed gonadal dysgenesis,DOID:14449 band keratopathy,DOID:11164 gonadal dysgenesis,DOID:14447 neonatal respiratory failure,DOID:11161 respiratory failure,DOID:11162 janus kinase-3 deficiency,DOID:0060008 MHC class I deficiency,DOID:0060009 conjunctivitis,DOID:6195 infective endocarditis,DOID:0060000 withdrawal disorder,DOID:0060001 C1 inhibitor deficiency,DOID:0060002 autoimmune disease of central nervous system,DOID:0060004 autoimmune disease of endocrine system,DOID:0060005 ileitis,DOID:0060189 Stargardt disease,DOID:0050817 liver benign neoplasm,DOID:916 amyotrophic neuralgia,DOID:10383 Bartter disease,DOID:445 3-methylglutaconic aciduria type 5,DOID:0110000 substance-related disorder,DOID:303 substance abuse,DOID:302 carcinoma,DOID:305 hyperlipoproteinemia type V,DOID:1171 hyperlipoproteinemia type IV,DOID:1172 right atrial isomerism,DOID:0060856 early myoclonic encephalopathy,DOID:308 3-methylglutaconic aciduria type 1,DOID:0110002 visual epilepsy,DOID:11832 cortical blindness,DOID:11831 myopia,DOID:11830 clubfoot,DOID:11836 riboflavin deficiency,DOID:8454 Pierson syndrome,DOID:0060852 pemphigus vulgaris,DOID:0060851 nonpapillary renal cell carcinoma,DOID:0050387 Sneddon syndrome,DOID:13096 vertebral artery insufficiency,DOID:13095 brachydactyly type B2,DOID:0110975 Moyamoya disease,DOID:13099 brachydactyly type C,DOID:0110970 brachydactyly type D,DOID:0110971 brachydactyly type E1,DOID:0110972 androgen insensitivity syndrome,DOID:4674 uremic neuropathy,DOID:4675 uremia,DOID:4676 keratitis,DOID:4677 mucosal melanoma,DOID:0050929 acinar cell carcinoma,DOID:3025 childhood ependymoma,DOID:5509 cellular ependymoma,DOID:5500 papillary ependymoma,DOID:5505 low tension glaucoma,DOID:13544 hyperparathyroidism,DOID:13543 lymphocytic choriomeningitis,DOID:12155 renal cell carcinoma,DOID:4450 renal carcinoma,DOID:4451 multiple epiphyseal dysplasia 7,DOID:0070302 epidermolytic palmoplantar keratoderma,DOID:0080223 craniolenticulosutural dysplasia,DOID:0070307 multiple epiphyseal dysplasia 3,DOID:0070304 syndromic X-linked intellectual disability Shashi type,DOID:0060826 X-linked intellectual disability-psychosis-macroorchidism syndrome,DOID:0060827 syndromic X-linked intellectual disability Raymond type,DOID:0060824 Christianson syndrome,DOID:0060825 syndromic X-linked intellectual disability Cabezas type,DOID:0060822 syndromic X-linked intellectual disability 94,DOID:0060823 syndromic X-linked intellectual disability Nascimento type,DOID:0060820 syndromic X-linked intellectual disability 14,DOID:0060821 Leber hereditary optic neuropathy,DOID:705 ectodermal dysplasia 12,DOID:0111652 Loeys-Dietz syndrome 5,DOID:0070236 papillary craniopharyngioma,DOID:3847 developmental and epileptic encephalopathy 63,DOID:0080426 hepatobiliary system cancer,DOID:0080355 X-linked chondrodysplasia punctata 2,DOID:0080352 ectodermal dysplasia 11A,DOID:0111653 retinitis pigmentosa 77,DOID:0080350 dystonia,DOID:543 thyroid lymphoma,DOID:10011 multiple endocrine neoplasia type 2B,DOID:10016 multiple endocrine neoplasia type 1,DOID:10017 ectodermal dysplasia 13,DOID:0111650 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2, constipation, fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3, optic papillitis,DOID:10175 kernicterus,DOID:2382 retinitis pigmentosa with or without situs inversus,DOID:0110419 retinitis pigmentosa 2,DOID:0110415 retinitis pigmentosa 3,DOID:0110414 retinitis pigmentosa 23,DOID:0110412 retinitis pigmentosa 60,DOID:0110411 disease of mental health,DOID:150 permanent neonatal diabetes mellitus,DOID:0060639 neonatal diabetes mellitus with congenital hypothyroidism,DOID:0060638 nephronophthisis,DOID:12712 CINCA Syndrome,DOID:0090029 familial isolated deficiency of vitamin E,DOID:0090028 Ellis-Van Creveld syndrome,DOID:12714 split hand-foot malformation 3,DOID:0090025 split hand-foot malformation 1 with sensorineural hearing loss,DOID:0090024 split hand-foot malformation 2,DOID:0090027 split hand-foot malformation 6,DOID:0090026 split hand-foot malformation 1,DOID:0090021 split hand-foot malformation,DOID:0090020 split hand-foot malformation 4,DOID:0090023 split hand-foot malformation 5,DOID:0090022 liver cirrhosis,DOID:5082 panhypopituitarism,DOID:9410 allergic asthma,DOID:9415 prostatitis,DOID:14654 color blindness,DOID:13399 gender incongruence,DOID:1234 nephrogenic diabetes insipidus,DOID:12387 neurohypophyseal diabetes insipidus,DOID:12388 methylmalonic aciduria and homocystinuria type cblF,DOID:0050717 methylmalonic aciduria and homocystinuria type cblD,DOID:0050716 methylmalonic aciduria and homocystinuria type cblC,DOID:0050715 AGAT deficiency,DOID:0050712 aceruloplasminemia,DOID:0050711 3-methylcrotonyl-CoA carboxylase deficiency,DOID:0050710 lung non-small cell carcinoma,DOID:3908 cerebral folate receptor alpha deficiency,DOID:0050719 vitamin metabolic disorder,DOID:0050718 Takayasu's arteritis,DOID:2508 ureterocele,DOID:4022 gastritis,DOID:4029 congenital muscular dystrophy-dystroglycanopathy type A,DOID:0111229 Sveinsson chorioretinal atrophy,DOID:0111228 centronuclear myopathy 1,DOID:0111223 centronuclear myopathy 5,DOID:0111222 centronuclear myopathy 6 with fiber-type disproportion,DOID:0111221 centronuclear myopathy 2,DOID:0111220 chromosome 3-linked frontotemporal dementia,DOID:0111227 centronuclear myopathy X-linked,DOID:0111225 centronuclear myopathy 4,DOID:0111224 Cornelia de Lange syndrome 5,DOID:0080509 Cornelia de Lange syndrome 4,DOID:0080508 multiple congenital anomalies-hypotonia-seizures syndrome,DOID:0080503 GM1 gangliosidosis type 1,DOID:0080502 GM1 gangliosidosis type 2,DOID:0080501 ovarian dysgenesis 8,DOID:0080500 Cornelia de Lange syndrome 3,DOID:0080507 Cornelia de Lange syndrome 2,DOID:0080506 Cornelia de Lange syndrome 1,DOID:0080505 Parkinson's disease 22,DOID:0080504 Bowen-Conradi syndrome,DOID:0050684 upper respiratory tract disease,DOID:974 "congenital heart defects, hamartomas of tongue, and polysyndactyly",DOID:0111591 Cohen syndrome,DOID:0111590 plasminogen deficiency type I,DOID:0111592 congenital contractural arachnodactyly,DOID:0111595 distal arthrogryposis type 5D,DOID:0111594 distal arthrogryposis type 1A,DOID:0111597 distal arthrogryposis type 1,DOID:0111596 distal arthrogryposis type 2B,DOID:0111599 distal arthrogryposis type 1B,DOID:0111598 Athabaskan brainstem dysgenesis syndrome,DOID:0050682 cystadenocarcinoma,DOID:3111 papillary carcinoma,DOID:3113 thymoma,DOID:3275 thymus cancer,DOID:3277 neuronal ceroid lipofuscinosis 10,DOID:0110725 alcoholic liver cirrhosis,DOID:14018 Charcot-Marie-Tooth disease axonal type 2L,DOID:0110174 Charcot-Marie-Tooth disease axonal type 2O,DOID:0110175 Charcot-Marie-Tooth disease axonal type 2X,DOID:0110176 Charcot-Marie-Tooth disease axonal type 2N,DOID:0110177 Charcot-Marie-Tooth disease axonal type 2Q,DOID:0110170 Charcot-Marie-Tooth disease axonal type 2S,DOID:0110171 Charcot-Marie-Tooth disease axonal type 2U,DOID:0110173 Charcot-Marie-Tooth disease axonal type 2V,DOID:0110178 Charcot-Marie-Tooth disease type 2B2,DOID:0110179 congenital myasthenic syndrome 4B,DOID:0110677 spermatogenic failure 17,DOID:0070174 spermatogenic failure 22,DOID:0070177 spermatogenic failure 4,DOID:0070176 spermatogenic failure 12,DOID:0070171 spermatogenic failure 19,DOID:0070170 spermatogenic failure 7,DOID:0070173 spermatogenic failure 15,DOID:0070172 spermatogenic failure 14,DOID:0070179 spermatogenic failure 10,DOID:0070178 hypertrophic cardiomyopathy 4,DOID:0110310 hypertrophic cardiomyopathy 6,DOID:0110312 hypertrophic cardiomyopathy 7,DOID:0110313 hypertrophic cardiomyopathy 8,DOID:0110314 hypertrophic cardiomyopathy 9,DOID:0110315 hypertrophic cardiomyopathy 10,DOID:0110316 hypertrophic cardiomyopathy 11,DOID:0110317 hypertrophic cardiomyopathy 12,DOID:0110318 hypertrophic cardiomyopathy 13,DOID:0110319 oral cavity cancer,DOID:8618 recurrent hypersomnia,DOID:8619 familial hemophagocytic lymphohistiocytosis 2,DOID:0110922 pituitary hypoplasia,DOID:7378 neuroleptic malignant syndrome,DOID:14464 torsion dystonia 4,DOID:0090041 congenital myasthenic syndrome 11,DOID:0110675 agammaglobulinemia 4,DOID:0060027 immunoglobulin alpha deficiency,DOID:0060025 CD40 ligand deficiency,DOID:0060022 immunodeficiency with hyper IgM type 3,DOID:0060023 reticular dysgenesis,DOID:0060020 DNA ligase IV deficiency,DOID:0060021 multiple epiphyseal dysplasia with myopia and deafness,DOID:0111348 familial hemophagocytic lymphohistiocytosis 4,DOID:0110924 autoimmune disease of exocrine system,DOID:0060029 Guillain-Barre syndrome,DOID:12842 persistent hyperplastic primary vitreous,DOID:0060282 peeling skin syndrome,DOID:0060283 primary pigmented nodular adrenocortical disease,DOID:0060280 combined oxidative phosphorylation deficiency,DOID:0060286 cornea plana,DOID:0060287 paroxysmal nocturnal hemoglobinuria,DOID:0060284 parietal foramina,DOID:0060285 omodysplasia,DOID:0060288 Ohdo syndrome,DOID:0060289 nasal cavity cancer,DOID:10811 autistic disorder,DOID:12849 chikungunya,DOID:0050012 Koolen de Vries syndrome,DOID:0050880 bladder disease,DOID:365 uterine cancer,DOID:363 epidural abscess,DOID:11387 monocular exotropia,DOID:11853 spinocerebellar ataxia type 27,DOID:0050976 spinocerebellar ataxia type 29,DOID:0050978 well-differentiated liposarcoma,DOID:5690 Gaucher's disease type II,DOID:0110958 Gaucher's disease type III,DOID:0110959 Waardenburg syndrome type 2D,DOID:0110952 Waardenburg syndrome type 4A,DOID:0110953 Waardenburg syndrome type 2A,DOID:0110950 Waardenburg syndrome type 2E,DOID:0110956 Gaucher's disease type I,DOID:0110957 Waardenburg syndrome type 4B,DOID:0110954 Waardenburg syndrome type 4C,DOID:0110955 periapical granuloma,DOID:4617 intestinal benign neoplasm,DOID:4610 myelodysplastic syndrome,DOID:0050908 extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue,DOID:0050909 Churg-Strauss syndrome,DOID:3049 food allergy,DOID:3044 allergic contact dermatitis,DOID:3042 salivary gland carcinoma,DOID:0050904 dysgammaglobulinemia,DOID:11702 aspergillosis,DOID:13564 head and neck squamous cell carcinoma,DOID:5520 familial adult myoclonic epilepsy 2,DOID:0111692 Crouzon syndrome-acanthosis nigricans syndrome,DOID:0111161 common variable immunodeficiency,DOID:12177 goiter,DOID:12176 familial adult myoclonic epilepsy 1,DOID:0111690 dyskinesia of esophagus,DOID:9192 breast secretory carcinoma,DOID:4922 Klippel-Feil syndrome 3,DOID:0080591 bronchiolo-alveolar adenocarcinoma,DOID:4926 intrahepatic cholangiocarcinoma,DOID:4928 "cleft palate, cardiac defects, and intellectual disabillity",DOID:0111697 erythrokeratodermia variabilis et progressiva 2,DOID:0080248 erythrokeratodermia variabilis et progressiva 3,DOID:0080249 familial adult myoclonic epilepsy 7,DOID:0111694 non-syndromic X-linked intellectual disability 106,DOID:0080240 syndromic X-linked mental retardation 35,DOID:0080241 syndromic X-linked mental retardation Hough type,DOID:0080242 familial adult myoclonic epilepsy 3,DOID:0111695 Galloway-Mowat syndrome 2,DOID:0080244 Galloway-Mowat syndrome 3,DOID:0080245 Galloway-Mowat syndrome 4,DOID:0080246 Galloway-Mowat syndrome 5,DOID:0080247 periampullary adenocarcinoma,DOID:8110 brain ischemia,DOID:2316 autosomal dominant nonsyndromic deafness 3A,DOID:0110564 hereditary spastic paraplegia 35,DOID:0110786 hereditary spastic paraplegia 33,DOID:0110784 hereditary spastic paraplegia 31,DOID:0110782 hereditary spastic paraplegia 30,DOID:0110781 osteonecrosis,DOID:10159 intestinal cancer,DOID:10155 subacute thyroiditis,DOID:7165 thyroiditis,DOID:7166 dilated cardiomyopathy 1GG,DOID:0110435 dilated cardiomyopathy 1Z,DOID:0110434 dilated cardiomyopathy 1L,DOID:0110436 dilated cardiomyopathy 1I,DOID:0110431 dilated cardiomyopathy 1G,DOID:0110430 dilated cardiomyopathy 1E,DOID:0110433 dilated cardiomyopathy 1NN,DOID:0110432 intermediate coronary syndrome,DOID:8805 dilated cardiomyopathy 1P,DOID:0110439 dilated cardiomyopathy 1JJ,DOID:0110438 endocrine gland cancer,DOID:170 neuroectodermal tumor,DOID:171 cardiovascular cancer,DOID:176 acanthoma,DOID:174 vascular cancer,DOID:175 vascular disease,DOID:178 XFE progeroid syndrome,DOID:0060590 WHIM syndrome,DOID:0060591 "atypical chronic myeloid leukemia, BCR-ABL1 negative",DOID:0060597 paroxysmal nonkinesigenic dyskinesia 1,DOID:0090049 dystonia 16,DOID:0090048 dystonia 5,DOID:0090043 childhood onset GLUT1 deficiency syndrome 2,DOID:0090045 dystonia 9,DOID:0090044 uterine corpus myxoid leiomyosarcoma,DOID:6567 chronic leukemia,DOID:1036 pericarditis,DOID:1787 adrenal rest tumor,DOID:1786 pituitary cancer,DOID:1785 thyroid gland cancer, hereditary spherocytosis type 5,DOID:0110920 "microcephaly with or without chorioretinopathy, lymphedema, or mental retardation",DOID:0060349 hypoparathyroidism-retardation-dysmorphism syndrome,DOID:0060348 megacystis-microcolon-intestinal hypoperistalsis syndrome,DOID:0060610 abdominal obesity-metabolic syndrome 3,DOID:0060612 glucocorticoid-induced osteoporosis,DOID:0060343 acromelic frontonasal dysostosis,DOID:0060342 agnathia-otocephaly complex,DOID:0060341 ciliopathy,DOID:0060340 "fructose-1,6-bisphosphatase deficiency",DOID:5204 trichuriasis,DOID:1252 inflammatory bowel disease 13,DOID:0110893 inflammatory bowel disease 1,DOID:0110892 inflammatory bowel disease 19,DOID:0110890 inflammatory bowel disease 14,DOID:0110895 nemaline myopathy 1,DOID:0110926 autosomal genetic disease,DOID:0050739 X-linked monogenic disease,DOID:0050735 congenital intrinsic factor deficiency,DOID:0050734 autosomal recessive disease,DOID:0050737 autosomal dominant disease,DOID:0050736 vitamin B12 deficiency,DOID:0050731 coenzyme Q10 deficiency disease,DOID:0050730 anus benign neoplasm,DOID:4551 ovarian carcinoma,DOID:4001 bladder carcinoma,DOID:4007 bladder urothelial carcinoma,DOID:4006 distal hereditary motor neuronopathy type 7A,DOID:0111201 distal hereditary motor neuronopathy type 5,DOID:0111203 distal hereditary motor neuronopathy type 7B,DOID:0111202 distal hereditary motor neuronopathy type 5B,DOID:0111205 distal hereditary motor neuronopathy type 5A,DOID:0111204 distal hereditary motor neuropathy type 2B, distal hereditary motor neuronopathy type 2C,DOID:0111209 distal hereditary motor neuronopathy type 2A,DOID:0111208 lung non-squamous non-small cell carcinoma,DOID:0080521 Tn polyagglutination syndrome,DOID:0080520 adult-onset leukoencephalopathy with axonal spheroids and pigmented glia,DOID:0080523 thyroid gland anaplastic carcinoma,DOID:0080522 differentiated thyroid gland carcinoma,DOID:0080525 thyroid gland adenocarcinoma,DOID:0080524 congenital heart block,DOID:990 hypereosinophilic syndrome,DOID:999 anovulation,DOID:3781 Coffin-Lowry syndrome,DOID:3783 Riley-Day syndrome,DOID:11589 developmental and epileptic encephalopathy 39,DOID:0080349 POEMS syndrome,DOID:14039 fissured tongue,DOID:11514 cerebral arterial disease,DOID:3527 cerebral infarction,DOID:3526 nephrotic syndrome type 11,DOID:0080385 nephrotic syndrome type 6,DOID:0080384 nephrotic syndrome type 12,DOID:0080387 nephrotic syndrome type 10,DOID:0080386 nephrotic syndrome type 13,DOID:0080381 nephrotic syndrome type 5,DOID:0080380 nephrotic syndrome type 4,DOID:0080383 gingival recession,DOID:1134 nephrotic syndrome type 8,DOID:0080389 nephrotic syndrome type 7,DOID:0080388 Charcot-Marie-Tooth disease type 1B,DOID:0110152 Charcot-Marie-Tooth disease type 1E,DOID:0110153 Charcot-Marie-Tooth disease type 1D,DOID:0110150 Charcot-Marie-Tooth disease type 1C,DOID:0110151 Charcot-Marie-Tooth disease type 2B1,DOID:0110156 Charcot-Marie-Tooth disease type 2J,DOID:0110157 Charcot-Marie-Tooth disease type 2A1,DOID:0110154 parasitic protozoa infectious disease,DOID:2789 cerebellar disease,DOID:2786 Dandy-Walker syndrome,DOID:2785 acrocephalosyndactylia,DOID:12960 Niemann-Pick disease type C1,DOID:0070113 Niemann-Pick disease type B,DOID:0070112 Niemann-Pick disease type A,DOID:0070111 Meckel syndrome 3,DOID:0070117 Meckel syndrome 2,DOID:0070116 osteogenesis imperfecta type 17,DOID:0110338 osteogenesis imperfecta type 3,DOID:0110339 osteogenesis imperfecta type 7,DOID:0110337 Meckel syndrome 5,DOID:0070119 Meckel syndrome 4,DOID:0070118 Leber congenital amaurosis 4,DOID:0110332 Leber congenital amaurosis 13,DOID:0110330 Leber congenital amaurosis 3,DOID:0110331 Bardet-Biedl syndrome 16,DOID:0110138 Bardet-Biedl syndrome 17,DOID:0110139 axonal neuropathy,DOID:7319 fibrous meningioma,DOID:7211 atypical teratoid rhabdoid tumor,DOID:2129 focal dermal hypoplasia,DOID:2120 ectodermal dysplasia,DOID:2121 Bardet-Biedl syndrome 10,DOID:0110132 Bardet-Biedl syndrome 11,DOID:0110133 optic atrophy,DOID:5723 Usher syndrome type 1,DOID:0110826 Brugada syndrome 5,DOID:0110222 hereditary spastic paraplegia 8,DOID:0110823 dental enamel hypoplasia,DOID:693 mitochondrial myopathy,DOID:699 mineral metabolism disease,DOID:0050032 systemic mastocytosis,DOID:349 uterine disease,DOID:345 peripheral vascular disease,DOID:341 chromosome 19q13.11 deletion syndrome,DOID:0060408 NFIA-related disorder,DOID:0060409 chromosome 17q12 deletion syndrome,DOID:0060404 chromosome 18q deletion syndrome,DOID:0060407 chromosome 17p13.1 deletion syndrome,DOID:0060402 chromosome 17q11.2 deletion syndrome,DOID:0060403 high myopia-sensorineural deafness syndrome,DOID:0111628 Dent disease,DOID:0050699 Brody myopathy,DOID:0050692 Brooke-Spiegler syndrome,DOID:0050693 brachyolmia,DOID:0050690 branchiooculofacial syndrome,DOID:0050691 fetal alcohol spectrum disorder,DOID:0050696 chorioamnionitis,DOID:0050697 Brown-Vialetto-Van Laere syndrome,DOID:0050694 nemaline myopathy 8,DOID:0110930 nemaline myopathy 10,DOID:0110931 nemaline myopathy 4,DOID:0110932 nemaline myopathy 11,DOID:0110933 nemaline myopathy 7,DOID:0110934 nemaline myopathy 6,DOID:0110935 nemaline myopathy 5, autosomal dominant osteopetrosis 1,DOID:0110937 autosomal dominant osteopetrosis 2,DOID:0110938 autosomal recessive osteopetrosis 5,DOID:0110939 lichen planus,DOID:9201 Barrett's esophagus,DOID:9206 nasal cavity inverting papilloma,DOID:4633 Pick's disease,DOID:11870 facioscapulohumeral muscular dystrophy,DOID:11727 Emery-Dreifuss muscular dystrophy,DOID:11726 Cornelia de Lange syndrome,DOID:11725 limb-girdle muscular dystrophy,DOID:11724 Duchenne muscular dystrophy,DOID:11723 myotonic dystrophy type 1,DOID:11722 glycogen storage disease VII,DOID:11721 distal myopathy,DOID:11720 "autosomal dominant cerebellar ataxia, deafness and narcolepsy",DOID:0050968 spinocerebellar ataxia type 18,DOID:0050969 glioblastoma,DOID:3068 malignant astrocytoma,DOID:3069 Lyme disease,DOID:11729 cholestasis,DOID:13580 autosomal dominant cutis laxa 1,DOID:0070130 autosomal recessive cutis laxa type IB,DOID:0070133 muscular disease,DOID:0080000 autosomal recessive cutis laxa type IA,DOID:0070135 avian influenza,DOID:4492 bone disease,DOID:0080001 congenital myopathy 4A,DOID:0080102 cholangiocarcinoma,DOID:4947 gastroesophageal junction adenocarcinoma,DOID:4944 autosomal dominant cutis laxa 2,DOID:0070136 gallbladder carcinoma,DOID:4948 primary ciliary dyskinesia 37,DOID:0080266 autosomal dominant nonsyndromic deafness 71,DOID:0080267 exudative vitreoretinopathy 7,DOID:0080264 nephrotic syndrome type 14,DOID:0080265 autosomal recessive nonsyndromic deafness 107,DOID:0080262 autosomal recessive nonsyndromic deafness 108,DOID:0080263 autosomal recessive spinocerebellar ataxia 26,DOID:0080260 autosomal recessive nonsyndromic deafness 106,DOID:0080261 autosomal dominant nonsyndromic deafness 72,DOID:0080268 autosomal dominant nonsyndromic deafness 73,DOID:0080269 adrenoleukodystrophy,DOID:10588 retinitis pigmentosa,DOID:10584 Krabbe disease,DOID:10587 metachromatic leukodystrophy,DOID:10581 Refsum disease,DOID:10582 Crouzon syndrome,DOID:2339 trichohepatoenteric syndrome 1,DOID:0111415 trichohepatoenteric syndrome 2,DOID:0111416 familial chylomicronemia syndrome,DOID:0111417 exudative vitreoretinopathy 6,DOID:0111410 exudative vitreoretinopathy 4,DOID:0111411 exudative vitreoretinopathy 1,DOID:0111412 X-linked exudative vitreoretinopathy 2,DOID:0111413 familial apolipoprotein C-II deficiency,DOID:0111418 breast carcinoma in situ,DOID:8791 xerophthalmia,DOID:10138 psychosexual disorder,DOID:10132 ankylosing spondylitis,DOID:7147 Langerhans cell sarcoma,DOID:7146 rheumatoid arthritis,DOID:7148 bone development disease,DOID:0080006 dilated cardiomyopathy 1EE,DOID:0110453 molluscum contagiosum,DOID:8867 actinic keratosis,DOID:8866 dilated cardiomyopathy 1Y,DOID:0110457 dilated cardiomyopathy 1R,DOID:0110456 dilated cardiomyopathy 1U,DOID:0110455 dilated cardiomyopathy 1S,DOID:0110454 dilated cardiomyopathy 1FF,DOID:0110459 dilated cardiomyopathy 1BB,DOID:0110458 neuromyelitis optica,DOID:8869 bone deterioration disease,DOID:0080007 bone remodeling disease,DOID:0080005 familial cold autoinflammatory syndrome,DOID:0090061 Wolcott-Rallison syndrome,DOID:0090060 familial cold autoinflammatory syndrome 1,DOID:0090062 familial cold autoinflammatory syndrome 3,DOID:0090064 Fuhrmann syndrome,DOID:0090067 trachoma,DOID:11265 giant axonal neuropathy 2,DOID:0090069 giant axonal neuropathy 1,DOID:0090068 familial combined hyperlipidemia,DOID:13809 acne,DOID:6543 colitis,DOID:0060180 collagenous colitis,DOID:0060183 angiomatous meningioma,DOID:6548 osteomyelitis,DOID:1019 Johanson-Blizzard syndrome,DOID:14694 galactokinase deficiency,DOID:14695 Smith-Lemli-Opitz syndrome,DOID:14692 Clouston syndrome,DOID:14693 thrombocytopenia-absent radius syndrome,DOID:14699 mandibulofacial dysostosis with alopecia,DOID:0060365 Galloway-Mowat syndrome 1,DOID:0060364 Parkinson's disease 1,DOID:0060367 Hennekam syndrome,DOID:0060366 punctate palmoplantar keratoderma,DOID:0060361 glycerol kinase deficiency,DOID:0060363 Parkinson's disease 6,DOID:0060369 Parkinson's disease 2,DOID:0060368 spinocerebellar ataxia type 31,DOID:0050980 Nasu-Hakola disease,DOID:0090112 Sorsby's fundus dystrophy,DOID:0090114 esophageal cancer,DOID:5041 medulloepithelioma,DOID:4790 "GM2 gangliosidosis, AB variant",DOID:4795 ependymoblastoma, myotonic dystrophy type 2,DOID:0050759 metabolic acidosis,DOID:0050758 cerebellar ataxia,DOID:0050753 amyotrophic lateral sclerosis type 8,DOID:0050752 deafness-dystonia-optic neuronopathy syndrome,DOID:0050757 ataxia with oculomotor apraxia type 2, ataxia with oculomotor apraxia type 1,DOID:0050754 ocular motility disease,DOID:1279 respiratory syncytial virus infectious disease,DOID:1273 telangiectasis,DOID:1272 hereditary hemorrhagic telangiectasia,DOID:1270 acute necrotizing encephalitis,DOID:5222 infertility,DOID:5223 ovarian sex-cord stromal tumor,DOID:0080369 Fanconi anemia complementation group D1,DOID:0111089 Fanconi anemia complementation group F,DOID:0111088 Fanconi anemia complementation group D2,DOID:0111083 Fanconi anemia complementation group L,DOID:0111082 Fanconi anemia complementation group T,DOID:0111081 Fanconi anemia complementation group V,DOID:0111080 Fanconi anemia complementation group C,DOID:0111087 Fanconi anemia complementation group G,DOID:0111086 Fanconi anemia complementation group U,DOID:0111085 Fanconi anemia complementation group E,DOID:0111084 melanoma,DOID:1909 tooth resorption,DOID:13240 Behcet's disease,DOID:13241 X-linked Aarskog syndrome,DOID:6683 spondylolisthesis,DOID:6682 panuveitis,DOID:12030 parathyroid gland benign neoplasm,DOID:60008 pituitary gland benign neoplasm,DOID:60009 dermatofibrosarcoma protuberans,DOID:3507 malignant cystadenoma,DOID:60004 ampulla of Vater adenocarcinoma,DOID:3502 pulmonary artery disease,DOID:60001 primary autosomal recessive microcephaly 13,DOID:0070283 primary autosomal recessive microcephaly 8,DOID:0070282 primary autosomal recessive microcephaly 19,DOID:0070281 primary autosomal recessive microcephaly 5,DOID:0070280 primary autosomal recessive microcephaly 11,DOID:0070287 primary autosomal recessive microcephaly 3,DOID:0070286 primary autosomal recessive microcephaly 1,DOID:0070285 primary autosomal recessive microcephaly 12,DOID:0070284 Bardet-Biedl syndrome 8,DOID:0110130 Bardet-Biedl syndrome 9,DOID:0110131 primary autosomal recessive microcephaly 16,DOID:0070289 primary autosomal recessive microcephaly 17,DOID:0070288 Bardet-Biedl syndrome 12,DOID:0110134 Bardet-Biedl syndrome 13,DOID:0110135 Bardet-Biedl syndrome 14,DOID:0110136 Bardet-Biedl syndrome 15,DOID:0110137 dihydropyrimidinase deficiency,DOID:0111629 DOORS syndrome,DOID:0111627 D-glyceric aciduria,DOID:0111626 ventriculomegaly - cystic kidney disease,DOID:0111625 ACTH-independent macronodular adrenal hyperplasia 2,DOID:0111624 ACTH-independent macronodular adrenal hyperplasia 1,DOID:0111623 ACTH-independent macronodular adrenal hyperplasia,DOID:0111622 Temtamy syndrome,DOID:0111621 corneal dystrophy-perceptive deafness syndrome,DOID:0111620 autosomal recessive cutis laxa type IC,DOID:0070139 autosomal recessive cutis laxa type IIIB,DOID:0070138 infantile myofibromatosis,DOID:0080109 myoglobinuria,DOID:0080108 autosomal dominant cutis laxa 3,DOID:0070131 microcephaly and chorioretinopathy 2,DOID:0080106 microcephaly and chorioretinopathy 1,DOID:0080105 autosomal recessive cutis laxa type IIIA,DOID:0070132 Fanconi anemia,DOID:13636 autosomal recessive cutis laxa type IIB,DOID:0070137 congenital myopathy,DOID:0081337 congenital myopathy,DOID:0080100 congenital myasthenic syndrome 16,DOID:0110682 congenital myasthenic syndrome 18,DOID:0110683 congenital myasthenic syndrome 2C,DOID:0110680 chickenpox,DOID:8659 "Hodgkin's lymphoma, mixed cellularity",DOID:8654 pilomyxoid astrocytoma,DOID:4845 subependymal glioma,DOID:4843 congenital stationary night blindness 1E,DOID:0110869 Hajdu-Cheney syndrome,DOID:2736 benign giant cell tumor,DOID:200 connective tissue cancer,DOID:201 tricuspid valve prolapse,DOID:5644 vulva squamous cell carcinoma,DOID:2101 myotonia congenita,DOID:2106 autoimmune lymphoproliferative syndrome,DOID:6688 hemarthrosis,DOID:801 leukodystrophy,DOID:10579 ascariasis,DOID:456 salivary gland disease,DOID:10854 myotonic disease,DOID:450 calcium metabolism disease,DOID:10575 homocarnosinosis,DOID:0060177 hypomyelinating leukodystrophy 6,DOID:0060798 syndromic X-linked intellectual disability Lubs type,DOID:0060799 hypomyelinating leukodystrophy 7,DOID:0060794 hypomyelinating leukodystrophy 13,DOID:0060795 hypomyelinating leukodystrophy 8,DOID:0060797 hypomyelinating leukodystrophy 3,DOID:0060790 hypomyelinating leukodystrophy 9,DOID:0060791 hypomyelinating leukodystrophy 11,DOID:0060792 hypomyelinating leukodystrophy 5,DOID:0060793 cystic fibrosis,DOID:1485 gingival disease,DOID:1483 autosomal recessive nonsyndromic deafness 101,DOID:0110462 autosomal recessive nonsyndromic deafness 102,DOID:0110463 advanced sleep phase syndrome 3,DOID:0110013 advanced sleep phase syndrome 2,DOID:0110012 advanced sleep phase syndrome 1,DOID:0110011 SATB2-associated syndrome,DOID:0060428 chromosomal duplication syndrome,DOID:0060429 chromosome 4q21 deletion syndrome,DOID:0060420 chromosome 19p13.13 deletion syndrome,DOID:0060426 age related macular degeneration 2,DOID:0110015 patterned macular dystrophy 3,DOID:0060865 hypomyelinating leukodystrophy 12,DOID:0060796 Newfoundland cone-rod dystrophy,DOID:0111015 congenital stationary night blindness 1H,DOID:0110866 hereditary spherocytosis type 1,DOID:0110916 infantile hypophosphatasia,DOID:0110914 childhood hypophosphatasia,DOID:0110915 leukocyte adhesion deficiency 3,DOID:0110912 adult hypophosphatasia,DOID:0110913 leukocyte adhesion deficiency 1,DOID:0110910 dengue disease,DOID:12205 dengue hemorrhagic fever,DOID:12206 central sleep apnea,DOID:9220 microcystic meningioma,DOID:4594 malignant teratoma,DOID:5563 ovarian germ cell teratoma,DOID:5567 mature teratoma,DOID:5566 Wolfram syndrome 2,DOID:0110630 Nelson syndrome,DOID:4968 neurotic disorder,DOID:4964 bone marrow cancer,DOID:4960 bone marrow disease,DOID:4961 transient myeloproliferative syndrome,DOID:0060888 prune belly syndrome,DOID:0060889 renal hypomagnesemia 3,DOID:0060880 renal hypomagnesemia 5 with ocular involvement,DOID:0060881 renal hypomagnesemia 4,DOID:0060882 intestinal hypomagnesemia 1,DOID:0060883 renal hypomagnesemia 6,DOID:0060884 renal hypomagnesemia 2,DOID:0060885 osteopathia striata with cranial sclerosis,DOID:0060886 ossification of the posterior longitudinal ligament of spine,DOID:0060887 alternating exotropia,DOID:1142 complement factor I deficiency,DOID:0050419 autosomal dominant hypophosphatemic rickets,DOID:0050948 autosomal recessive hypophosphatemic rickets,DOID:0050949 Charlevoix-Saguenay spastic ataxia,DOID:0050946 hereditary hypophosphatemic rickets with hypercalciuria,DOID:0050947 spastic ataxia 5,DOID:0050944 spastic ataxia 3,DOID:0050942 spastic ataxia 4,DOID:0050943 spastic ataxia 2,DOID:0050941 developmental and epileptic encephalopathy 31A,DOID:0080437 developmental and epileptic encephalopathy 4,DOID:0080436 anemia,DOID:2355 iron metabolism disease,DOID:2351 progressive familial intrahepatic cholestasis 3,DOID:0070223 hemochromatosis,DOID:2352 progressive familial intrahepatic cholestasis 2,DOID:0070222 blepharospasm,DOID:529 central nervous system vasculitis,DOID:525 clear cell meningioma,DOID:4210 human immunodeficiency virus infectious disease,DOID:526 blepharocheilodontic syndrome,DOID:0080344 malignant pheochromocytoma,DOID:0080347 blepharocheilodontic syndrome 2,DOID:0080346 essential tremor 5,DOID:0111432 optic atrophy 3,DOID:0111433 essential tremor 4,DOID:0111431 optic atrophy 11,DOID:0111436 optic atrophy 7,DOID:0111437 optic atrophy 10,DOID:0111434 optic atrophy 6,DOID:0111435 optic atrophy 5,DOID:0111438 trypanosomiasis,DOID:10113 sleeping sickness,DOID:10112 hiatus hernia,DOID:12642 skin disease,DOID:37 disseminated intravascular coagulation,DOID:11247 vitamin K deficiency bleeding,DOID:11249 autosomal recessive nonsyndromic deafness 21,DOID:0110479 dentatorubral-pallidoluysian atrophy,DOID:0060162 Kennedy's disease,DOID:0060161 autosomal recessive nonsyndromic deafness 16,DOID:0110471 autosomal recessive nonsyndromic deafness 15,DOID:0110470 autosomal recessive nonsyndromic deafness 18A,DOID:0110473 Cor pulmonale,DOID:8515 hypoactive sexual desire disorder,DOID:13868 autosomal recessive nonsyndromic deafness 1B,DOID:0110476 fibrodysplasia ossificans progressiva,DOID:13374 complement component 9 deficiency,DOID:0060303 type II complement component 8 deficiency,DOID:0060302 type I complement component 8 deficiency,DOID:0060301 complement component 7 deficiency,DOID:0060300 autosomal dominant intellectual developmental disorder,DOID:0060307 Meier-Gorlin syndrome,DOID:0060306 megalocornea,DOID:0060305 dyschromatosis universalis hereditaria,DOID:0060304 syndromic X-linked intellectual disability,DOID:0060309 autosomal recessive intellectual developmental disorder,DOID:0060308 mitochondrial complex III deficiency nuclear type 5,DOID:0080114 congenital disorder of glycosylation type IIp,DOID:0070268 mitochondrial complex III deficiency nuclear type 6,DOID:0080115 kidney failure,DOID:1074 primary open angle glaucoma,DOID:1070 renal hypertension,DOID:1073 congenital mesoblastic nephroma,DOID:4773 rapidly progressive glomerulonephritis,DOID:4776 proliferative glomerulonephritis,DOID:4778 head and neck cancer,DOID:11934 pheochromocytoma,DOID:0050771 polycystic liver disease,DOID:0050770 paraganglioma,DOID:0050773 spastic ataxia 1,DOID:0050772 schneckenbecken dysplasia,DOID:0050775 rapadilino syndrome,DOID:0050774 Joubert syndrome,DOID:0050777 hydrolethalus syndrome,DOID:0050779 Meckel syndrome,DOID:0050778 autoimmune gastritis,DOID:0040090 uveal cancer,DOID:3479 esophagus squamous cell carcinoma,DOID:3748 hypermethioninemia,DOID:0050544 porphyria,DOID:13268 hereditary coproporphyria,DOID:13269 supravalvular aortic stenosis,DOID:1929 Williams-Beuren syndrome,DOID:1928 sphingolipidosis,DOID:1927 Gaucher's disease,DOID:1926 Coffin-Siris syndrome,DOID:1925 hypogonadism,DOID:1924 disorder of sexual development,DOID:1923 Klinefelter syndrome,DOID:1921 hyperuricemia,DOID:1920 visceral heterotaxy,DOID:0050545 meningioma,DOID:3565 vaccinia,DOID:3298 autoimmune lymphoproliferative syndrome type 2B,DOID:0110116 autoimmune lymphoproliferative syndrome type 4,DOID:0110117 atrial heart septal defect 9,DOID:0110114 autoimmune lymphoproliferative syndrome type 2A,DOID:0110115 atrial heart septal defect 7,DOID:0110112 atrial heart septal defect 8,DOID:0110113 atrial heart septal defect 5,DOID:0110110 atrial heart septal defect 6,DOID:0110111 Leber congenital amaurosis 16,DOID:0110118 autoimmune lymphoproliferative syndrome type 3,DOID:0110119 fatal infantile hypertonic myofibrillar myopathy,DOID:0080309 distal arthrogryposis type 2A,DOID:0111605 Freeman-Sheldon syndrome,DOID:0111604 distal arthrogryposis type 3,DOID:0111607 distal arthrogryposis type 2B2,DOID:0111601 hereditary spherocytosis type 3,DOID:0110918 distal arthrogryposis type 7,DOID:0111603 distal arthrogryposis type 2B3,DOID:0111602 hereditary spherocytosis type 4,DOID:0110919 distal arthrogryposis type 5,DOID:0111608 mitochondrial DNA depletion syndrome 6,DOID:0080125 mitochondrial DNA depletion syndrome 5,DOID:0080124 mitochondrial DNA depletion syndrome 8a,DOID:0080127 mitochondrial DNA depletion syndrome 7,DOID:0080126 mitochondrial DNA depletion syndrome 3,DOID:0080121 mitochondrial DNA depletion syndrome 2,DOID:0080120 mitochondrial DNA depletion syndrome 4b,DOID:0080123 Alpers-Huttenlocher syndrome,DOID:0080122 myofibrillar myopathy 8,DOID:0080308 mitochondrial DNA depletion syndrome 11,DOID:0080129 mitochondrial DNA depletion syndrome 9,DOID:0080128 perinatal necrotizing enterocolitis,DOID:8677 eating disorder,DOID:8670 nasal cavity disease,DOID:2163 thrombophlebitis,DOID:3875 purine-pyrimidine metabolic disorder,DOID:653 age related macular degeneration,DOID:10871 Raynaud disease,DOID:10300 Kuhnt-Junius degeneration,DOID:10873 adenoma,DOID:657 adrenal adenoma,DOID:656 inherited metabolic disorder,DOID:655 overnutrition,DOID:654 myofibrillar myopathy,DOID:0080307 congestive heart failure,DOID:6000 esophageal varix,DOID:112 arthropathy,DOID:381 heart disease,DOID:114 Wolff-Parkinson-White syndrome,DOID:384 heart cancer,DOID:117 epithelial and subepithelial dystrophy,DOID:0060440 epithelial-stromal TGFBI dystrophy,DOID:0060441 stromal dystrophy,DOID:0060442 corneal endothelial dystrophy,DOID:0060443 granular corneal dystrophy 2,DOID:0060444 congenital stromal corneal dystrophy,DOID:0060445 epithelial basement membrane dystrophy,DOID:0060447 Fleck corneal dystrophy,DOID:0060448 gelatinous drop-like corneal dystrophy,DOID:0060449 root resorption,DOID:14550 primary pulmonary hypertension,DOID:14557 congenital disorder of glycosylation type IIl,DOID:0070264 shipyard eye,DOID:13014 Plica syndrome,DOID:12225 Pallister-Hall syndrome,DOID:9248 cerebral amyloid angiopathy,DOID:9246 Alagille syndrome,DOID:9245 erythromelalgia,DOID:9240 lymphoma,DOID:0060058 pancreatic gastrinoma,DOID:5580 hereditary spastic paraplegia 28,DOID:0110779 fibrillary astrocytoma,DOID:6726 alcoholic pancreatitis,DOID:4988 echolalia,DOID:4188 mutism,DOID:4189 choledochal cyst,DOID:899 autosomal dominant polycystic kidney disease,DOID:898 pseudopseudohypoparathyroidism,DOID:4183 metal metabolism disorder,DOID:896 articulation disorder,DOID:4186 mitochondrial encephalomyopathy,DOID:890 pseudohypoparathyroidism,DOID:4184 Frasier syndrome,DOID:0050438 Usher syndrome,DOID:0050439 fatal familial insomnia,DOID:0050433 multiple endocrine neoplasia type 2A,DOID:0050430 arrhythmogenic right ventricular cardiomyopathy,DOID:0050431 mulibrey nanism,DOID:0050436 Danon disease,DOID:0050437 Andersen-Tawil syndrome,DOID:0050434 multiple sclerosis,DOID:2377 relapsing-remitting multiple sclerosis,DOID:2378 smooth muscle cancer,DOID:4230 histiocytoma,DOID:4231 extraosseous Ewing sarcoma,DOID:4232 clear cell sarcoma,DOID:4233 spindle cell sarcoma,DOID:4235 carcinosarcoma,DOID:4236 alveolar soft part sarcoma,DOID:4239 inflammatory myofibroblastic tumor,DOID:0050905 classic galactosemia,DOID:0111459 progressive myoclonus epilepsy 9,DOID:0111450 progressive myoclonus epilepsy 8,DOID:0111451 progressive myoclonus epilepsy 1A,DOID:0111452 2-aminoadipic 2-oxoadipic aciduria,DOID:0111453 SHORT syndrome,DOID:0111454 GRACILE syndrome,DOID:0111455 Kaufman oculocerebrofacial syndrome,DOID:0111456 STING-associated vasculopathy with onset in infancy,DOID:0111457 inverted papilloma,DOID:3179 urinary system disease,DOID:18 integumentary system disease,DOID:16 musculoskeletal system disease,DOID:17 reproductive system disease,DOID:15 autosomal dominant intellectual developmental disorder 44,DOID:0070074 autosomal dominant intellectual developmental disorder 40,DOID:0070070 autosomal dominant intellectual developmental disorder 41,DOID:0070071 autosomal dominant intellectual developmental disorder 42,DOID:0070072 autosomal dominant intellectual developmental disorder 43,DOID:0070073 peripheral nervous system disease,DOID:574 mucopolysaccharidosis II,DOID:12799 mucopolysaccharidosis,DOID:12798 Burkitt lymphoma,DOID:8584 gastric cardia adenocarcinoma,DOID:6271 autosomal recessive nonsyndromic deafness 39,DOID:0110497 autosomal recessive nonsyndromic deafness 37,DOID:0110495 autosomal recessive nonsyndromic deafness 36,DOID:0110494 autosomal recessive nonsyndromic deafness 35,DOID:0110493 autosomal recessive nonsyndromic deafness 33,DOID:0110492 autosomal recessive nonsyndromic deafness 32,DOID:0110491 reticulosarcoma,DOID:8538 herpes zoster,DOID:8536 gastroesophageal reflux disease,DOID:8534 autosomal recessive nonsyndromic deafness 4,DOID:0110498 chordoma,DOID:3302 autosomal dominant intellectual developmental disorder 56,DOID:0080226 lattice corneal dystrophy,DOID:8943 mixed germ cell cancer,DOID:3306 ectopic pregnancy,DOID:0060329 anal fistula,DOID:0060328 umbilical hernia,DOID:0060321 inguinal hernia,DOID:0060320 mastoiditis,DOID:0060322 dental abscess,DOID:0060324 omphalocele,DOID:0060327 myelomeningocele,DOID:0060326 autosomal dominant intellectual developmental disorder 55,DOID:0080227 autosomal dominant dystrophic epidermolysis bullosa,DOID:0080224 seborrheic keratosis,DOID:6498 extraskeletal myxoid chondrosarcoma,DOID:4549 peritoneum cancer,DOID:1725 duodenal ulcer,DOID:1724 retinal vein occlusion,DOID:1727 eunuchism,DOID:5003 retinal vascular occlusion,DOID:1729 intellectual disability,DOID:1059 endodermal sinus tumor,DOID:1911 multiple system atrophy,DOID:4752 striatonigral degeneration,DOID:4751 gastroparesis,DOID:11914 encephalitis,DOID:9588 diabetic retinopathy,DOID:8947 sarcoma,DOID:1115 pseudohermaphroditism,DOID:3765 Denys-Drash syndrome,DOID:3764 hermaphroditism,DOID:3763 cytochrome-c oxidase deficiency disease,DOID:3762 proliferative diabetic retinopathy,DOID:13207 cholecystitis,DOID:1949 right bundle branch block,DOID:13209 hypotrichosis,DOID:4535 vitreous detachment,DOID:9726 cranial nerve palsy,DOID:3817 "multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly",DOID:0080327 X-linked Emery-Dreifuss muscular dystrophy 1,DOID:0070246 primary coenzyme Q10 deficiency 8,DOID:0070245 ovarian dysgenesis 4,DOID:0080496 primary coenzyme Q10 deficiency 6,DOID:0070243 mucolipidosis type IV,DOID:0080490 ovarian dysgenesis 1,DOID:0080493 primary coenzyme Q10 deficiency 3,DOID:0070240 ovarian dysgenesis 7,DOID:0080499 ovarian dysgenesis 6,DOID:0080498 cold-induced sweating syndrome 1,DOID:0080329 autosomal recessive Emery-Dreifuss muscular dystrophy 3,DOID:0070248 choroid disease,DOID:1417 spinal canal and spinal cord meningioma,DOID:1140 exotropia,DOID:1143 ovarian dysfunction,DOID:1414 hypokalemia,DOID:4500 ectodermal dysplasia 14,DOID:0111662 ectodermal dysplasia 7,DOID:0111660 enterokinase deficiency,DOID:0111667 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome,DOID:0111666 ectodermal dysplasia 1,DOID:0111664 hyaline fibromatosis syndrome,DOID:0111669 Kohlschutter-Tonz syndrome,DOID:0111668 SAPHO syndrome,DOID:13677 mosaic variegated aneuploidy syndrome 1,DOID:0080141 multiple congenital anomalies-hypotonia-seizures syndrome 3,DOID:0080140 childhood B-cell acute lymphoblastic leukemia,DOID:0080146 childhood acute lymphocytic leukemia,DOID:0080144 retinitis pigmentosa 1,DOID:0110390 retinitis pigmentosa 31,DOID:0110391 retinitis pigmentosa 70,DOID:0110392 retinitis pigmentosa 66,DOID:0110393 retinitis pigmentosa 44,DOID:0110394 retinitis pigmentosa 72,DOID:0110395 retinitis pigmentosa 50,DOID:0110396 retinitis pigmentosa 27,DOID:0110397 angiodysplasia,DOID:2494 congenital nervous system abnormality,DOID:2490 aortic disease,DOID:520 autosomal dominant nonsyndromic deafness 2B,DOID:0110559 Kleine-Levin syndrome,DOID:0060165 Brugada syndrome 7,DOID:0110224 Brugada syndrome 8,DOID:0110225 adrenocortical carcinoma,DOID:3948 Brugada syndrome 9,DOID:0110226 Usher syndrome type 2C,DOID:0110839 Brugada syndrome 3,DOID:0110220 Brugada syndrome 4,DOID:0110221 papillary renal cell carcinoma,DOID:4465 autosomal recessive nonsyndromic deafness 97,DOID:0110539 neovascular glaucoma,DOID:1687 autosomal recessive nonsyndromic deafness 89,DOID:0110534 autosomal recessive nonsyndromic deafness 9,DOID:0110535 autosomal recessive nonsyndromic deafness 91,DOID:0110536 autosomal recessive nonsyndromic deafness 93,DOID:0110537 autosomal recessive nonsyndromic deafness 84B,DOID:0110530 autosomal recessive nonsyndromic deafness 86,DOID:0110532 autosomal recessive nonsyndromic deafness 88,DOID:0110533 basal ganglia disease,DOID:679 progressive supranuclear palsy,DOID:678 cleft palate,DOID:674 juvenile rheumatoid arthritis,DOID:676 silicosis,DOID:10325 heart septal defect,DOID:1681 spasmodic dystonia,DOID:0050844 hypercalcemia,DOID:12678 nephrocalcinosis,DOID:12679 selective immunoglobulin deficiency disease,DOID:6025 selective IgE deficiency disease,DOID:6024 angioedema,DOID:1558 spinal cancer,DOID:5612 vibratory urticaria,DOID:1554 beta thalassemia,DOID:12241 histidine metabolism disease,DOID:9265 cystinuria,DOID:9266 urea cycle disorder,DOID:9267 nasopharynx carcinoma,DOID:9261 homocystinuria,DOID:9263 glycine encephalopathy,DOID:9268 maple syrup urine disease,DOID:9269 Holt-Oram syndrome,DOID:0060468 Miller-Dieker lissencephaly syndrome,DOID:0060469 gingival fibromatosis,DOID:0060466 humeroradial synostosis,DOID:0060467 Feingold syndrome,DOID:0060464 fibrochondrogenesis,DOID:0060465 Desbuquois dysplasia,DOID:0060462 NUT midline carcinoma,DOID:0060463 non-alcoholic steatohepatitis, non-alcoholic fatty liver,DOID:0080546 hyper IgM syndrome,DOID:0080544 hyperprolinemia type 2,DOID:0080543 hyperprolinemia type 1,DOID:0080542 galactosialidosis,DOID:0080540 alopecia universalis,DOID:0050634 alternating hemiplegia of childhood,DOID:0050635 familial visceral amyloidosis,DOID:0050636 Finnish type amyloidosis,DOID:0050637 Aland Island eye disease,DOID:0050630 Allan-Herndon-Dudley syndrome,DOID:0050631 oculocutaneous albinism,DOID:0050632 ocular albinism, exfoliation syndrome,DOID:13641 transthyretin amyloidosis,DOID:0050638 primary cutaneous amyloidosis,DOID:0050639 mastitis,DOID:10690 progressive familial intrahepatic cholestasis 5,DOID:0070225 neuropathy,DOID:870 bacterial pneumonia,DOID:874 familial hypertrophic cardiomyopathy,DOID:0080326 Gitelman syndrome,DOID:0050450 Brugada syndrome,DOID:0050451 mevalonic aciduria,DOID:0050452 lissencephaly,DOID:0050453 periventricular nodular heterotopia,DOID:0050454 spinocerebellar ataxia type 38,DOID:0050985 juvenile myelomonocytic leukemia,DOID:0050458 hyperphosphatemia,DOID:0050459 episodic ataxia type 1,DOID:0050989 tuberous sclerosis 2,DOID:0080325 nose disease,DOID:2825 Caffey disease,DOID:4257 osteosclerosis,DOID:4254 Alexander disease,DOID:4252 melorheostosis,DOID:4253 Weissenbacher-Zweymuller syndrome,DOID:4258 combined oxidative phosphorylation deficiency 19,DOID:0111476 combined oxidative phosphorylation deficiency 14,DOID:0111477 combined oxidative phosphorylation deficiency 1,DOID:0111474 combined oxidative phosphorylation deficiency 39,DOID:0111475 combined oxidative phosphorylation deficiency 9,DOID:0111472 combined oxidative phosphorylation deficiency 5,DOID:0111473 combined oxidative phosphorylation deficiency 28,DOID:0111470 combined oxidative phosphorylation deficiency 30,DOID:0111471 combined oxidative phosphorylation deficiency 20,DOID:0111478 combined oxidative phosphorylation deficiency 8,DOID:0111479 skin squamous cell carcinoma,DOID:3151 portal vein thrombosis,DOID:11695 photosensitivity disease,DOID:3159 Sly syndrome,DOID:12803 mucopolysaccharidosis I,DOID:12802 mucopolysaccharidosis III,DOID:12801 mucopolysaccharidosis VI,DOID:12800 hematopoietic system disease,DOID:74 lymphatic system disease,DOID:75 stomach disease,DOID:76 mucopolysaccharidosis IV,DOID:12804 Helsmoortel-Van Der Aa Syndrome,DOID:0070058 autosomal dominant intellectual developmental disorder 29,DOID:0070059 arcus senilis,DOID:11342 autosomal dominant intellectual developmental disorder 22,DOID:0070052 autosomal dominant intellectual developmental disorder 23,DOID:0070053 "neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language",DOID:0070050 autosomal dominant intellectual developmental disorder 21,DOID:0070051 autosomal dominant intellectual developmental disorder 26,DOID:0070056 Coffin-Siris syndrome 9,DOID:0070057 Vulto-van Silfout-de Vries syndrome,DOID:0070054 Xia-Gibbs Syndrome,DOID:0070055 hypotrichosis 8,DOID:0110705 hypotrichosis 7,DOID:0110704 hypotrichosis 6,DOID:0110703 hypotrichosis 5,DOID:0110702 hypotrichosis 4,DOID:0110701 hypotrichosis 3,DOID:0110700 hypotrichosis 12,DOID:0110709 hypotrichosis 11,DOID:0110708 T cell deficiency,DOID:11200 parathyroid gland disease,DOID:11201 primary hyperparathyroidism,DOID:11202 opioid abuse,DOID:11206 connective tissue benign neoplasm,DOID:0060123 integumentary system cancer,DOID:0060122 integumentary system benign neoplasm,DOID:0060121 heavy chain disease,DOID:0060125 chorioretinitis,DOID:8886 oropharynx cancer,DOID:8557 pyoderma gangrenosum,DOID:8553 chronic myeloid leukemia,DOID:8552 developmental and epileptic encephalopathy 61,DOID:0080434 platelet-type bleeding disorder 16,DOID:0060691 autosomal dominant auditory neuropathy 1,DOID:0060690 Brunner Syndrome,DOID:0060693 platelet-type bleeding disorder 8,DOID:0060692 hyperekplexia,DOID:0060695 Cayman type cerebellar ataxia,DOID:0060694 hyperekplexia 2,DOID:0060697 hyperekplexia 1,DOID:0060696 familial hypocalciuric hypercalcemia,DOID:0060699 hyperekplexia 3,DOID:0060698 ichthyosis vulgaris,DOID:1702 steroid inherited metabolic disorder,DOID:1701 X-linked ichthyosis,DOID:1700 botulism,DOID:11976 coloboma of optic nerve,DOID:11975 synostosis,DOID:11971 isolated microphthalmia 4,DOID:0060836 celiac disease,DOID:10608 nodular goiter,DOID:13197 nontoxic goiter,DOID:13195 endemic goiter,DOID:13198 velocardiofacial syndrome,DOID:12583 Cri-Du-Chat syndrome,DOID:12580 calciphylaxis,DOID:4734 somatoform disorder,DOID:4737 kidney clear cell sarcoma,DOID:4880 vasomotor rhinitis,DOID:4730 obstructive sleep apnea,DOID:0050848 sleep apnea,DOID:0050847 oromandibular dystonia,DOID:0050843 focal hand dystonia,DOID:0050841 cervical dystonia,DOID:0050840 cerebral palsy,DOID:1969 uterine fibroid,DOID:13223 leiomyosarcoma,DOID:1967 fallopian tube cancer,DOID:1964 cryptococcosis,DOID:12053 tricuspid valve insufficiency,DOID:4080 mucopolysaccharidosis type IIIC,DOID:0111393 mucopolysaccharidosis type IVB,DOID:0111392 mucopolysaccharidosis IVA,DOID:0111391 mucopolysaccharidosis Ih,DOID:0111390 congenital disorder of glycosylation type IIq,DOID:0070269 mucopolysaccharidosis type IIIA,DOID:0111395 mucopolysaccharidosis type IIIB,DOID:0111394 congenital disorder of glycosylation type IIo,DOID:0070267 atypical hemolytic-uremic syndrome,DOID:0080301 mixed sleep apnea,DOID:0080302 Bamforth-Lazarus syndrome,DOID:0050655 lymphoplasmacytic lymphoma,DOID:0050747 lymphoplasmacytic lymphoma,DOID:0060901 Parkinson's disease 14,DOID:0060900 thrombosis,DOID:0060903 Norman-Roberts syndrome,DOID:0060902 legume allergy,DOID:0060904 pilocytic astrocytoma,DOID:4851 mixed connective tissue disease,DOID:3492 tricuspid atresia,DOID:0080169 Miyoshi muscular dystrophy 1,DOID:0070199 Miyoshi muscular dystrophy,DOID:0070198 autosomal recessive chronic granulomatous disease 1,DOID:0070192 otulipenia,DOID:0080163 distal myopathy 1,DOID:0070197 X-linked chronic granulomatous disease,DOID:0070195 autosomal recessive chronic granulomatous disease 3,DOID:0070194 otitis media,DOID:10754 systemic primary carnitine deficiency disease,DOID:14365 developmental and epileptic encephalopathy 19,DOID:0080431 papilloma,DOID:2615 retinal disease,DOID:5679 "ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome",DOID:0111649 ectopia lentis with ectopia of pupil,DOID:0111648 pleural disease,DOID:1532 mitochondrial complex III deficiency,DOID:0111139 congenital generalized lipodystrophy type 4,DOID:0111138 autosomal recessive nonsyndromic deafness 94,DOID:0111641 congenital generalized lipodystrophy type 2,DOID:0111136 congenital generalized lipodystrophy type 1,DOID:0111135 autosomal recessive nonsyndromic deafness 114,DOID:0111642 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome,DOID:0111645 autosomal recessive nonsyndromic deafness 110,DOID:0111644 Schopf-Schulz-Passarge syndrome,DOID:0111647 congenital lactase deficiency,DOID:0111646 autosomal recessive nonsyndromic deafness 67,DOID:0110518 autosomal recessive nonsyndromic deafness 68,DOID:0110519 diabetes mellitus,DOID:9351 autosomal recessive nonsyndromic deafness 6,DOID:0110512 autosomal recessive nonsyndromic deafness 61,DOID:0110513 autosomal recessive nonsyndromic deafness 59,DOID:0110511 autosomal recessive nonsyndromic deafness 66,DOID:0110517 autosomal recessive nonsyndromic deafness 63,DOID:0110515 blepharophimosis,DOID:10348 leukopenia,DOID:615 lymphopenia,DOID:614 primary immunodeficiency disease,DOID:612 cerebral primitive neuroectodermal tumor,DOID:7398 trochlear nerve disease,DOID:13864 pain disorder,DOID:0060164 isolated growth hormone deficiency type III,DOID:0060875 isolated growth hormone deficiency type IB,DOID:0060874 Roberts syndrome,DOID:5325 childhood spinal muscular atrophy,DOID:0060160 bullous congenital ichthyosiform erythroderma,DOID:0060877 age related macular degeneration 11,DOID:0110023 isolated growth hormone deficiency type IA,DOID:0060873 autosomal recessive nonsyndromic deafness 1A,DOID:0110475 isolated growth hormone deficiency type II,DOID:0060872 autosomal recessive nonsyndromic deafness 18B,DOID:0110474 autosomal recessive nonsyndromic deafness 2,DOID:0110477 X-linked hyper IgM syndrome,DOID:6620 spastic monoplegia,DOID:10968 hemiplegia,DOID:10969 parasitic infectious disease,DOID:1398 lipoid nephrosis,DOID:10966 spastic diplegia,DOID:10965 WAGR syndrome,DOID:14515 pancreatic adenosquamous carcinoma,DOID:5637 alcohol use disorder,DOID:1574 respiratory system disease,DOID:1579 dacryocystitis,DOID:9938 EAST syndrome,DOID:0060484 Mowat-Wilson syndrome,DOID:0060485 Perry syndrome,DOID:0060486 left ventricular noncompaction,DOID:0060480 Goldberg-Shprintzen syndrome,DOID:0060481 oculoauricular syndrome,DOID:0060482 MEDNIK syndrome,DOID:0060483 Pitt-Hopkins syndrome,DOID:0060488 oral cavity carcinoma in situ,DOID:0050610 respiratory system cancer,DOID:0050615 paranasal sinus cancer,DOID:0050619 choroideremia,DOID:9821 spermatogenic failure 5,DOID:0070183 holocarboxylase synthetase deficiency,DOID:859 lung disease,DOID:850 collagen disease,DOID:854 multiple carboxylase deficiency,DOID:857 biotinidase deficiency,DOID:856 Barth syndrome,DOID:0050476 Liddle syndrome,DOID:0050477 Netherton syndrome,DOID:0050474 Weill-Marchesani syndrome,DOID:0050475 monilethrix,DOID:0050472 Alstrom syndrome,DOID:0050473 Donohue syndrome,DOID:0050470 Carney complex,DOID:0050471 X-linked spermatogenic failure 2,DOID:0070185 hereditary lymphedema IC,DOID:0070208 congenital hemolytic anemia,DOID:589 nephrolithiasis,DOID:585 uric acid nephrolithiasis,DOID:580 familial adenomatous polyposis 1,DOID:0080409 porphyria cutanea tarda,DOID:3132 acute porphyria,DOID:3133 acanthosis nigricans,DOID:3138 melancholia,DOID:2848 listeriosis,DOID:11573 bruxism,DOID:2846 asthma,DOID:2841 long QT syndrome,DOID:2843 Jervell-Lange Nielsen syndrome,DOID:2842 congenital aphakia,DOID:11367 lens subluxation,DOID:11364 autosomal dominant intellectual developmental disorder 1,DOID:0070031 neuronal ceroid lipofuscinosis 5,DOID:0110728 autosomal dominant intellectual developmental disorder 6,DOID:0070036 autosomal dominant intellectual developmental disorder 7,DOID:0070037 autosomal dominant intellectual developmental disorder 8,DOID:0070038 NESCAV syndrome,DOID:0070039 neuronal ceroid lipofuscinosis 1,DOID:0110721 neuronal ceroid lipofuscinosis 4,DOID:0110720 neuronal ceroid lipofuscinosis 8,DOID:0110723 neuronal ceroid lipofuscinosis 7,DOID:0110722 neurofibromatosis,DOID:8712 in situ carcinoma,DOID:8719 musculoskeletal system cancer,DOID:0060100 central nervous system embryonal tumor,DOID:0060103 tyrosinemia type II,DOID:0050725 brain glioma,DOID:0060108 ulcerative colitis,DOID:8577 pituitary gland disease,DOID:53 thyroid gland disease,DOID:50 aortic valve insufficiency,DOID:57 reading disorder,DOID:13365 Stiff-Person syndrome,DOID:13366 prostate cancer,DOID:10283 prostate carcinoma,DOID:10286 complex cortical dysplasia with other brain malformations 2,DOID:0090133 complex cortical dysplasia with other brain malformations 7,DOID:0090132 cortical dysplasia-focal epilepsy syndrome,DOID:0090130 complex cortical dysplasia with other brain malformations 1,DOID:0090137 complex cortical dysplasia with other brain malformations 6,DOID:0090136 complex cortical dysplasia with other brain malformations 5,DOID:0090135 complex cortical dysplasia with other brain malformations 3,DOID:0090134 cortisone reductase deficiency,DOID:0090139 complex cortical dysplasia with other brain malformations 4,DOID:0090138 pyrimidine metabolic disorder,DOID:0050832 cheilitis,DOID:1762 fusariosis,DOID:0050289 mononeuropathy,DOID:1188 nephrotic syndrome,DOID:1184 salivary gland adenoid cystic carcinoma,DOID:4866 branchiootorenal syndrome,DOID:14702 propionic acidemia,DOID:14701 Pfeiffer syndrome,DOID:14705 plasmacytoma,DOID:3721 extramedullary plasmacytoma,DOID:3720 colorectal adenocarcinoma,DOID:0050861 colorectal adenoma,DOID:0050860 hepatocellular adenoma,DOID:0050868 rectal benign neoplasm,DOID:1984 Paget's disease of bone,DOID:5408 REM sleep behavior disorder,DOID:9091 sebaceous gland disease,DOID:9098 male reproductive organ cancer,DOID:3856 hemangiopericytic tumor,DOID:3850 Peutz-Jeghers syndrome,DOID:3852 familial partial lipodystrophy type 5,DOID:0070203 X-linked spondyloepiphyseal dysplasia tarda,DOID:0080362 Miyoshi muscular dystrophy 3,DOID:0070201 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4, desmoid tumor,DOID:0080366 endometrial hyperplasia,DOID:0080365 malignant adenoma,DOID:0080364 primary ciliary dyskinesia 6,DOID:0110606 primary ciliary dyskinesia 28,DOID:0110607 primary ciliary dyskinesia 18,DOID:0110604 primary ciliary dyskinesia 7,DOID:0110605 primary ciliary dyskinesia 11,DOID:0110602 primary ciliary dyskinesia 32,DOID:0110603 primary ciliary dyskinesia 29,DOID:0110600 primary ciliary dyskinesia 12,DOID:0110601 chronic neutrophilic leukemia,DOID:0080187 PHARC syndrome,DOID:0080181 chronic myelomonocytic leukemia,DOID:0080188 thrombophilia,DOID:2452 central retinal vein occlusion,DOID:2450 protein S deficiency,DOID:2451 IgA glomerulonephritis,DOID:2986 familial Mediterranean fever,DOID:2987 antiphospholipid syndrome,DOID:2988 thrombotic thrombocytopenic purpura,DOID:10772 melanotic medulloblastoma,DOID:3868 Beukes hip dysplasia,DOID:0111367 amelogenesis imperfecta,DOID:2187 transitional cell carcinoma,DOID:2671 protoplasmic astrocytoma,DOID:7008 childhood cerebral astrocytoma,DOID:7007 ACTH-secreting pituitary adenoma,DOID:7004 gemistocytic astrocytoma,DOID:7005 nephronophthisis 4,DOID:0111115 nephronophthisis 3,DOID:0111114 nephronophthisis-like nephropathy 1,DOID:0111117 nephronophthisis 7,DOID:0111116 maturity-onset diabetes of the young type 14,DOID:0111111 maturity-onset diabetes of the young type 13,DOID:0111110 nephronophthisis 2,DOID:0111113 nephronophthisis 12,DOID:0111119 nephronophthisis 11,DOID:0111118 autosomal dominant nonsyndromic deafness 48,DOID:0110571 autosomal dominant nonsyndromic deafness 4A,DOID:0110573 autosomal dominant nonsyndromic deafness 4B,DOID:0110574 autosomal dominant nonsyndromic deafness 5,DOID:0110575 acquired immunodeficiency syndrome,DOID:635 central pontine myelinolysis,DOID:636 fibromyalgia,DOID:631 genetic disease,DOID:630 myositis,DOID:633 acute disseminated encephalomyelitis,DOID:639 cataract 1 multiple types,DOID:0110231 fundus albipunctatus,DOID:11105 vulva carcinoma,DOID:1294 hypertrophic pyloric stenosis,DOID:12638 pyloric stenosis,DOID:12639 Ebstein anomaly,DOID:14289 neurogenic arthropathy,DOID:14286 primary hypertrophic osteoarthropathy,DOID:14283 interstitial cystitis,DOID:13949 bladder neck obstruction,DOID:13948 chronic lymphocytic leukemia/small lymphocytic lymphoma,DOID:6354 benign paroxysmal positional vertigo,DOID:13941 CADASIL,DOID:13945 endometrial stromal nodule,DOID:1373 tongue disease,DOID:10944 intracranial aneurysm,DOID:10941 maxillary sinus squamous cell carcinoma,DOID:7910 autosomal recessive congenital ichthyosis 5,DOID:0060714 autosomal recessive congenital ichthyosis 6,DOID:0060715 autosomal recessive congenital ichthyosis 8,DOID:0060717 autosomal recessive congenital ichthyosis 2,DOID:0060710 autosomal recessive congenital ichthyosis 3,DOID:0060711 autosomal recessive congenital ichthyosis 4A,DOID:0060712 autosomal recessive congenital ichthyosis 4B,DOID:0060713 autosomal recessive congenital ichthyosis 9,DOID:0060718 autosomal recessive congenital ichthyosis 10,DOID:0060719 Joubert syndrome 27,DOID:0110996 Joubert syndrome 25,DOID:0110994 Joubert syndrome 26,DOID:0110995 Joubert syndrome 21,DOID:0110990 Joubert syndrome 22,DOID:0110991 nominal aphasia,DOID:4541 cecal disease,DOID:1518 dyslexia,DOID:4428 periostitis,DOID:9957 hypoplastic left heart syndrome,DOID:9955 acute lymphoblastic leukemia,DOID:9952 acute biphenotypic leukemia,DOID:9953 sporadic breast cancer,DOID:8029 Blau syndrome,DOID:0050678 blue cone monochromacy,DOID:0050679 female breast cancer,DOID:0050671 congenital bile acid synthesis defect,DOID:0050674 Birk-Barel syndrome,DOID:0050675 Birt-Hogg-Dube syndrome,DOID:0050676 Bjornstad syndrome,DOID:0050677 cranial nerve disease,DOID:5656 apocrine sweat gland neoplasm,DOID:5876 essential tremor,DOID:4990 exophthalmos, auditory system cancer,DOID:833 scimitar syndrome,DOID:4297 eye disease,DOID:5614 penis carcinoma,DOID:3449 hepatobiliary disease,DOID:3118 gastrointestinal system cancer,DOID:3119 serous cystadenocarcinoma,DOID:3114 mammary Paget's disease,DOID:3443 kidney benign neoplasm,DOID:3116 hepatobiliary benign neoplasm,DOID:3117 glucosephosphate dehydrogenase deficiency,DOID:2862 congenital nonspherocytic hemolytic anemia,DOID:2861 hemoglobinopathy,DOID:2860 congenital vertical talus,DOID:0111568 autosomal dominant vitreoretinochoroidopathy,DOID:0111569 hypoplastic or aplastic tibia with polydactyly,DOID:0111564 trichodontoosseous syndrome,DOID:0111565 familial isolated trichomegaly,DOID:0111566 retinal vasculopathy with cerebral leukodystrophy,DOID:0111567 Charcot-Marie-Tooth disease type 1G,DOID:0111560 stiff skin syndrome,DOID:0111561 overhydrated hereditary stomatocytosis,DOID:0111562 Sturge-Weber syndrome,DOID:0111563 cryptorchidism,DOID:11383 corneal neovascularization,DOID:11382 autosomal dominant dyskeratosis congenita 3,DOID:0070018 autosomal recessive dyskeratosis congenita 3,DOID:0070019 autosomal dominant dyskeratosis congenita 2,DOID:0070016 autosomal recessive dyskeratosis congenita 2,DOID:0070017 autosomal recessive dyskeratosis congenita 1,DOID:0070015 Seckel syndrome 5,DOID:0070012 Seckel syndrome 2,DOID:0070013 Seckel syndrome 4,DOID:0070010 Seckel syndrome 7,DOID:0070011 anodontia,DOID:13714 type 1 diabetes mellitus 10,DOID:0110749 type 1 diabetes mellitus 2,DOID:0110741 neurodegeneration with brain iron accumulation 6,DOID:0110740 type 1 diabetes mellitus 5,DOID:0110744 chronic monocytic leukemia,DOID:8593 degenerative disc disease,DOID:90 spondylosis,DOID:2247 Balkan nephropathy,DOID:3052 chromosomal deletion syndrome,DOID:0060388 angiomyolipoma,DOID:3314 acrofacial dysostosis Rodriguez type,DOID:0060383 chondrodysplasia Blomstrand type,DOID:0060387 Chilblain lupus,DOID:0060386 varicose veins,DOID:799 transitional meningioma,DOID:7213 meningothelial meningioma,DOID:7212 psammomatous meningioma,DOID:7210 congenital disorder of glycosylation type IIn,DOID:0070266 squamous cell carcinoma,DOID:1749 conjunctival squamous cell carcinoma,DOID:1748 crustacean allergy,DOID:0060524 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome,DOID:0090119 congenital amegakaryocytic thrombocytopenia,DOID:0090118 lipoid proteinosis,DOID:14498 Fabry disease,DOID:14499 PCWH syndrome,DOID:0090111 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome,DOID:0090110 RIDDLE syndrome,DOID:0090113 spinocerebellar ataxia type 1 with axonal neuropathy, Wolman disease,DOID:14497 thiamine-responsive megaloblastic anemia syndrome,DOID:0090117 spondylocarpotarsal synostosis syndrome,DOID:0090116 congenital disorder of glycosylation type IIj,DOID:0070262 spinocerebellar ataxia type 2,DOID:0050955 hepatitis A,DOID:12549 dextrocardia,DOID:9565 benign ependymoma,DOID:4844 bronchiectasis,DOID:9563 primary ciliary dyskinesia,DOID:9562 sebaceous carcinoma,DOID:4840 Ehlers-Danlos syndrome classic type 1,DOID:14720 Ehlers-Danlos syndrome spondylodysplastic type 2,DOID:0050802 androgenic alopecia,DOID:0050801 creatine transporter deficiency, Kahrizi syndrome,DOID:0050807 mucopolysaccharidosis IX,DOID:0050809 conjunctival cancer,DOID:5467 diabetic neuropathy,DOID:9743 biliary tract disease,DOID:9741 trigeminal neuralgia,DOID:12098 hemorrhoid,DOID:9746 type 1 diabetes mellitus,DOID:9744 progressive familial intrahepatic cholestasis,DOID:0070221 familial hyperinsulinemic hypoglycemia 5,DOID:0070220 autosomal recessive pyridoxine-refractory sideroblastic anemia 3,DOID:0080343 Simpson-Golabi-Behmel syndrome type 2,DOID:0080342 blepharocheilodontic syndrome 1,DOID:0080345 progressive familial intrahepatic cholestasis 4,DOID:0070224 intrahepatic cholestasis of pregnancy,DOID:0070227 progressive familial intrahepatic cholestasis 1,DOID:0070226 intrahepatic cholestasis of pregnancy 3,DOID:0070229 intrahepatic cholestasis of pregnancy 1,DOID:0070228 functional gastric disease,DOID:1159 developmental and epileptic encephalopathy 14,DOID:0080439 developmental and epileptic encephalopathy 5,DOID:0080438 chondrocalcinosis,DOID:1156 myelitis,DOID:322 tropical spastic paraparesis,DOID:321 vascular myelopathy,DOID:320 aortic valve disease 2,DOID:0080334 syringomyelia,DOID:327 central nervous system origin vertigo,DOID:2479 opportunistic mycosis,DOID:2473 hereditary spastic paraplegia,DOID:2476 motor peripheral neuropathy,DOID:2477 non-Langerhans-cell histiocytosis,DOID:4330 autosomal dominant nonsyndromic deafness 17,DOID:0110548 congenital myasthenic syndrome,DOID:3635 toxic diffuse goiter,DOID:10719 giardiasis,DOID:10718 adermatoglyphia,DOID:0111357 hydrolethalus syndrome 2,DOID:0111356 hydrolethalus syndrome 1,DOID:0111355 "arthrogryposis, renal dysfunction, and cholestasis 2",DOID:0111354 "arthrogryposis, renal dysfunction, and cholestasis 1",DOID:0111353 D-2-hydroxyglutaric aciduria 2,DOID:0111352 D-2-hydroxyglutaric aciduria 1,DOID:0111351 Laurin-Sandrow syndrome,DOID:0111350 large congenital melanocytic nevus,DOID:0111359 Floating-Harbor syndrome,DOID:0111358 Leber congenital amaurosis 12,DOID:0110080 arrhythmogenic right ventricular dysplasia 10,DOID:0110081 arrhythmogenic right ventricular dysplasia 11,DOID:0110082 arrhythmogenic right ventricular dysplasia 12,DOID:0110083 arrhythmogenic right ventricular dysplasia 13,DOID:0110084 asphyxiating thoracic dystrophy 2,DOID:0110086 asphyxiating thoracic dystrophy 3,DOID:0110087 asphyxiating thoracic dystrophy 4,DOID:0110088 asphyxiating thoracic dystrophy 5,DOID:0110089 cataract 18,DOID:0110238 cataract 42,DOID:0110237 autosomal recessive nonsyndromic deafness 98,DOID:0110540 autosomal dominant nonsyndromic deafness 11,DOID:0110543 autosomal dominant nonsyndromic deafness 10,DOID:0110542 familial adult myoclonic epilepsy,DOID:0111689 Ayme-Gripp syndrome,DOID:0111688 hereditary mixed polyposis syndrome,DOID:0111684 Potocki-Shaffer syndrome,DOID:0111687 hereditary mixed polyposis syndrome 2,DOID:0111686 glutamate-cysteine ligase deficiency,DOID:0111681 essential fructosuria,DOID:0111680 neurofibromatosis-Noonan syndrome,DOID:0111683 autosomal dominant sensory ataxia 1,DOID:0111170 autosomal dominant nonsyndromic deafness 15,DOID:0110546 embryonal carcinoma,DOID:3308 gonadoblastoma,DOID:3301 germinoma,DOID:3304 teratoma,DOID:3307 beta-mannosidosis,DOID:3633 fragile X syndrome,DOID:14261 oral candidiasis,DOID:14262 pulmonary valve insufficiency,DOID:14265 benign neonatal seizures,DOID:14264 sclerosing cholangitis,DOID:14268 hypersplenism,DOID:6376 cataract 6 multiple types,DOID:0110229 autosomal dominant nonsyndromic deafness 2A,DOID:0110558 autosomal dominant nonsyndromic deafness 27,DOID:0110556 autosomal dominant nonsyndromic deafness 28,DOID:0110557 autosomal dominant nonsyndromic deafness 25,DOID:0110555 autosomal dominant nonsyndromic deafness 22,DOID:0110552 autosomal dominant nonsyndromic deafness 23,DOID:0110553 autosomal dominant nonsyndromic deafness 20,DOID:0110550 glaucoma,DOID:1686 congenital heart disease,DOID:1682 sickle cell anemia,DOID:10923 pyelonephritis,DOID:11400 bullous keratopathy,DOID:11031 corneal edema,DOID:11030 junctional epidermolysis bullosa with pyloric atresia,DOID:0060733 torsion dystonia 1,DOID:0060730 congenital central hypoventilation syndrome,DOID:0060731 epidermolysis bullosa simplex Ogna type,DOID:0060736 junctional epidermolysis bullosa Herlitz type,DOID:0060737 epidermolysis bullosa simplex Dowling-Meara type,DOID:0060735 junctional epidermolysis bullosa non-Herlitz type,DOID:0060738 hand-foot-genital syndrome,DOID:0060739 drug dependence,DOID:9974 cocaine dependence,DOID:9975 obesity,DOID:9970 substance dependence,DOID:9973 multiple epiphyseal dysplasia due to collagen 9 anomaly,DOID:0070305 Alzheimer's disease 1,DOID:0080348 paranasal sinus benign neoplasm,DOID:1350 paranasal sinus disease,DOID:1352 sarcomatoid renal cell carcinoma,DOID:4473 pseudo-TORCH syndrome 1,DOID:0050656 Bannayan-Riley-Ruvalcaba syndrome,DOID:0050657 Baller-Gerold syndrome,DOID:0050654 hemophagocytic lymphohistiocytosis,DOID:0050120 familial atrial fibrillation,DOID:0050650 atrioventricular septal defect,DOID:0050651 Bart-Pumphrey syndrome,DOID:0050658 biotin-responsive basal ganglia disease,DOID:0050659 large intestine cancer,DOID:5672 colon cancer,DOID:219 dental caries,DOID:216 teeth hard tissue disease,DOID:214 lipodystrophy,DOID:811 septic arthritis,DOID:813 retinitis pigmentosa 43,DOID:0110379 pseudohypoaldosteronism,DOID:4479 Native American myopathy,DOID:0060346 lung benign neoplasm,DOID:3683 urethral stricture,DOID:1829 epilepsy,DOID:1826 idiopathic generalized epilepsy,DOID:1827 status epilepticus,DOID:1824 childhood absence epilepsy,DOID:1825 spinal muscular atrophy,DOID:12377 juvenile spinal muscular atrophy,DOID:12376 thyroid hormone resistance syndrome,DOID:11633 breast disease,DOID:3463 tubular aggregate myopathy 1,DOID:0080089 nonsyndromic congenital nail disorder 8,DOID:0080086 nonsyndromic congenital nail disorder 4,DOID:0080082 nonsyndromic congenital nail disorder 3,DOID:0080081 ring dermoid of cornea,DOID:0111548 aplasia of lacrimal and salivary glands,DOID:0111549 familial expansile osteolysis,DOID:0111542 juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome,DOID:0111543 prolidase deficiency,DOID:0111540 pigmented paravenous chorioretinal atrophy,DOID:0111541 Currarino syndrome,DOID:0111546 retinal arterial tortuosity,DOID:0111547 Guttmacher syndrome,DOID:0111544 familial male-limited precocious puberty,DOID:0111545 epidermodysplasia verruciformis,DOID:13777 Addison's disease,DOID:13774 hereditary spastic paraplegia 10,DOID:0110763 hereditary spastic paraplegia 11,DOID:0110764 hereditary spastic paraplegia 13,DOID:0110766 hereditary spastic paraplegia 15,DOID:0110768 cold-induced sweating syndrome 3,DOID:0080331 staphyloenterotoxemia,DOID:96 essential thrombocythemia,DOID:2224 myeloproliferative neoplasm,DOID:2226 speech disorder,DOID:92 language disorder,DOID:93 platelet storage pool deficiency,DOID:2223 factor X deficiency,DOID:2222 factor XI deficiency,DOID:2229 thrombocytosis,DOID:2228 retinal cell cancer,DOID:771 carcinoma of supraglottis,DOID:7763 Coats disease,DOID:7765 tetralogy of Fallot,DOID:6419 autosomal dominant intellectual developmental disorder 3,DOID:0070033 pleural cancer,DOID:5158 choroid plexus papilloma,DOID:2626 gastrointestinal allergy,DOID:0060502 DiGeorge syndrome,DOID:11198 hypoparathyroidism,DOID:11199 syndactyly,DOID:11193 ureteral obstruction,DOID:5199 dissociated nystagmus,DOID:13174 cannabis abuse,DOID:9505 leukocyte disease,DOID:9500 spermatic cord torsion,DOID:11996 spermatocele,DOID:11997 trichorhinophalangeal syndrome type I,DOID:14743 Sotos syndrome,DOID:14748 methylmalonic acidemia,DOID:14749 gingival hypertrophy,DOID:5338 cyclic hematopoiesis,DOID:5339 spiradenoma,DOID:5444 dental pulp disease,DOID:5330 testicular granulosa cell tumor,DOID:5331 epulis,DOID:5337 autosomal dominant Emery-Dreifuss muscular dystrophy 2,DOID:0070247 cellulitis,DOID:3488 systemic mycosis,DOID:0050136 cutaneous mycosis,DOID:0050134 arterial tortuosity syndrome,DOID:0050645 esophageal atresia,DOID:10485 Hirschsprung's disease,DOID:10487 intestinal atresia,DOID:10486 diaphragm disease,DOID:10481 Arts syndrome,DOID:0050647 imperforate anus,DOID:10488 pericardium disease,DOID:0050829 artery disease,DOID:0050828 corneal deposit,DOID:11547 atrioventricular block,DOID:0050820 sinoatrial node disease,DOID:0050824 rheumatic heart disease,DOID:0050827 tricuspid valve disease,DOID:0050826 granular cell tumor,DOID:2411 primary coenzyme Q10 deficiency 7,DOID:0070244 epidermolysis bullosa acquisita,DOID:4313 smooth muscle tumor,DOID:4310 fetal akinesia deformation sequence syndrome 4,DOID:0111379 fetal akinesia deformation sequence syndrome 2,DOID:0111378 fetal akinesia deformation sequence syndrome,DOID:0111375 selective pituitary thyroid hormone resistance,DOID:0111374 fetal akinesia deformation sequence syndrome 1,DOID:0111377 fetal akinesia deformation sequence syndrome 3,DOID:0111376 isolated hyperchlorhidrosis,DOID:0111371 Partington syndrome,DOID:14744 familial progressive hyperpigmentation with or without hypopigmentation,DOID:0111373 acute intermittent porphyria,DOID:3890 insulinoma,DOID:3892 developmental and epileptic encephalopathy 50,DOID:0080419 developmental and epileptic encephalopathy 54,DOID:0080418 developmental and epileptic encephalopathy 23,DOID:0080415 myocardial infarction,DOID:5844 developmental and epileptic encephalopathy 38,DOID:0080417 developmental and epileptic encephalopathy 32,DOID:0080416 familial adenomatous polyposis 3,DOID:0080411 familial adenomatous polyposis 2,DOID:0080410 developmental and epileptic encephalopathy 18,DOID:0080413 osteopoikilosis,DOID:11991 parotitis,DOID:10301 primary coenzyme Q10 deficiency 5,DOID:0070242 systemic Epstein-Barr virus positive T-cell lymphoma of childhood,DOID:0070324 Prinzmetal angina,DOID:0111151 autosomal dominant isolated ectopia lentis 1,DOID:0111150 nervous system cancer,DOID:3093 autosomal recessive spinocerebellar ataxia 21,DOID:0111155 Castleman disease,DOID:0111157 spermatogenic failure 9,DOID:0111156 primary coenzyme Q10 deficiency 4,DOID:0070241 Peters plus syndrome,DOID:0080201 bacterial infectious disease,DOID:104 autosomal recessive nonsyndromic deafness 26,DOID:0110484 benign epilepsy with centrotemporal spikes,DOID:3329 temporal lobe epilepsy,DOID:3328 partial motor epilepsy,DOID:3327 purpura,DOID:3326 Sandhoff disease,DOID:3323 GM1 gangliosidosis,DOID:3322 GM2 gangliosidosis,DOID:3321 Tay-Sachs disease,DOID:3320 autosomal recessive nonsyndromic deafness 29,DOID:0110487 tonsil cancer,DOID:8858 autosomal recessive nonsyndromic deafness 23,DOID:0110481 autosomal recessive nonsyndromic deafness 24,DOID:0110482 alpha thalassemia-X-linked intellectual disability syndrome,DOID:0110030 autosomal recessive nonsyndromic deafness 25,DOID:0110483 autosomal dominant Alport syndrome,DOID:0110032 hereditary retinal dystrophy,DOID:8500 lupus erythematosus,DOID:8857 syndromic X-linked intellectual disability Hedera type,DOID:0060806 atrophic gastritis,DOID:8929 infancy electroclinical syndrome,DOID:0050703 Charcot-Marie-Tooth disease recessive intermediate D,DOID:0110203 Charcot-Marie-Tooth disease dominant intermediate D,DOID:0110200 learning disability,DOID:8927 red-green color blindness,DOID:13909 Charcot-Marie-Tooth disease X-linked dominant 6,DOID:0110207 Charcot-Marie-Tooth disease recessive intermediate B,DOID:0110204 skin melanoma,DOID:8923 duodenal gastrinoma,DOID:7959 Nijmegen breakage syndrome,DOID:7400 urinary bladder cancer,DOID:11054 immunodeficiency with hyper-IgM type 2,DOID:0060758 immunodeficiency with hyper IgM type 5,DOID:0060759 familial temporal lobe epilepsy 7,DOID:0060751 familial temporal lobe epilepsy 5,DOID:0060752 familial temporal lobe epilepsy 8,DOID:0060754 sclerosteosis 1,DOID:0060756 sclerosteosis 2,DOID:0060757 hypogonadotropic hypogonadism 1 with or without anosmia,DOID:0090094 hypogonadotropic hypogonadism 19 with or without anosmia,DOID:0090090 hypogonadotropic hypogonadism 23 with or without anosmia,DOID:0090091 hypogonadotropic hypogonadism 3 with or without anosmia,DOID:0090092 hypogonadotropic hypogonadism 21 with or without anosmia,DOID:0090093 hydrocephalus,DOID:10908 congenital dyserythropoietic anemia,DOID:1338 Diamond-Blackfan anemia,DOID:1339 calcinosis,DOID:182 ossifying fibroma,DOID:180 microcephaly,DOID:10907 motor neuron disease,DOID:231 lateral sclerosis,DOID:230 colonic benign neoplasm,DOID:235 colon adenocarcinoma,DOID:234 pupil disease,DOID:238 familial hyperlipidemia,DOID:1168 scotoma,DOID:9335 cutaneous mastocytosis,DOID:3663 wheat allergy,DOID:3660 mast cell neoplasm,DOID:3664 diffuse cutaneous mastocytosis,DOID:3665 intermittent claudication,DOID:3669 neuroendocrine carcinoma,DOID:1800 mononeuritis,DOID:1802 neuritis,DOID:1803 xeroderma pigmentosum group F,DOID:0110848 xeroderma pigmentosum group G,DOID:0110849 xeroderma pigmentosum group C,DOID:0110844 xeroderma pigmentosum group D,DOID:0110845 xeroderma pigmentosum group E,DOID:0110846 xeroderma pigmentosum variant type,DOID:0110847 Usher syndrome type 2D,DOID:0110840 Usher syndrome type 3A,DOID:0110841 Usher syndrome type 3B,DOID:0110842 xeroderma pigmentosum group A,DOID:0110843 alcoholic hepatitis,DOID:12351 hyperandrogenism,DOID:11613 polycystic ovary syndrome,DOID:11612 autosomal recessive spinocerebellar ataxia 17,DOID:0080064 carotid artery disease,DOID:3407 autosomal recessive spinocerebellar ataxia 20,DOID:0080066 histiocytosis,DOID:3405 autosomal recessive spinocerebellar ataxia 12,DOID:0080060 autosomal recessive spinocerebellar ataxia 2,DOID:0080061 autosomal recessive spinocerebellar ataxia 13,DOID:0080062 inappropriate ADH syndrome,DOID:3401 Charcot-Marie-Tooth disease type 6,DOID:0080068 hypertensive retinopathy,DOID:11561 complex regional pain syndrome,DOID:3223 mitochondrial DNA depletion syndrome,DOID:0070329 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3,DOID:0111520 autosomal dominant progressive external ophthalmoplegia 1,DOID:0111521 autosomal recessive progressive external ophthalmoplegia 1,DOID:0111522 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3,DOID:0111523 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5,DOID:0111524 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4,DOID:0111525 Mullerian aplasia and hyperandrogenism,DOID:0111526 spinal muscular atrophy with progressive myoclonic epilepsy,DOID:0111527 Naegeli-Franceschetti-Jadassohn syndrome,DOID:0111528 familial multiple nevi flammei,DOID:0111529 COVID-19,DOID:0080600 ankylosing spondylitis 1,DOID:0080603 anterior segment dysgenesis 1,DOID:0080606 anterior segment dysgenesis 3,DOID:0080608 anterior segment dysgenesis 4,DOID:0080609 glycogen storage disease VIII,DOID:2751 glycogen storage disease IV,DOID:2750 glycogen storage disease II,DOID:2752 Mycobacterium avium complex disease,DOID:2755 glycogen storage disease VI,DOID:2754 diaphragmatic eventration,DOID:10480 neuromuscular junction disease,DOID:439 autoimmune disease of the nervous system,DOID:438 myofascial pain syndrome,DOID:431 myasthenia gravis,DOID:437 peptic ulcer disease,DOID:750 situs inversus,DOID:758 gliomatosis cerebri,DOID:6128 endocardium disease,DOID:0050825 conduct disorder,DOID:12995 foodborne botulism,DOID:0050352 Char syndrome,DOID:0060563 lethal congenital contracture syndrome 2,DOID:0060560 Ritscher-Schinzel syndrome,DOID:0060565 spinal disease,DOID:0060564 hypertrichotic osteochondrodysplasia Cantu type,DOID:0060569 pulmonary hypertension,DOID:6432 juvenile glaucoma,DOID:1068 paronychia,DOID:13117 Bell's palsy,DOID:12506 hereditary sensory and autonomic neuropathy type 7,DOID:0070149 Saethre-Chotzen syndrome,DOID:14768 Laron syndrome,DOID:9521 refractive error,DOID:9835 hyperopia,DOID:9834 hypertropia,DOID:9837 Larsen syndrome,DOID:14764 renal agenesis,DOID:14766 interstitial nephritis,DOID:1063 autosomal recessive cutis laxa type III,DOID:0070143 myofibrillar myopathy 4,DOID:0080095 extrapulmonary tuberculosis,DOID:0050598 tooth agenesis,DOID:0050591 severe congenital neutropenia,DOID:0050590 primary congenital glaucoma,DOID:0050593 asphyxiating thoracic dystrophy,DOID:0050592 glycogen storage disease IX,DOID:0050594 intestinal schistosomiasis,DOID:0050597 osteogenesis imperfecta type 15,DOID:0110347 osteogenesis imperfecta type 10,DOID:0110346 osteogenesis imperfecta type 16,DOID:0110345 osteogenesis imperfecta type 5,DOID:0110344 osteogenesis imperfecta type 14,DOID:0110343 osteogenesis imperfecta type 13,DOID:0110342 osteogenesis imperfecta type 2,DOID:0110341 osteogenesis imperfecta type 4,DOID:0110340 prion disease,DOID:649 membranoproliferative glomerulonephritis,DOID:2920 glomerulonephritis,DOID:2921 Klippel-Trenaunay syndrome,DOID:2926 glomus tumor,DOID:2431 dermis tumor,DOID:2438 apolipoprotein C-III deficiency,DOID:0111370 Schnitzler syndrome,DOID:4371 peanut allergy,DOID:4378 idiopathic generalized epilepsy 12,DOID:0111313 idiopathic generalized epilepsy 11,DOID:0111312 idiopathic generalized epilepsy 15,DOID:0111316 idiopathic generalized epilepsy 14,DOID:0111315 idiopathic generalized epilepsy 13,DOID:0111314 Becker muscular dystrophy,DOID:9883 peroxisome biogenesis disorder 4A,DOID:0080479 peroxisome biogenesis disorder 3A,DOID:0080478 developmental delay and seizures with or without movement abnormalities,DOID:0080473 developmental and epileptic encephalopathy 92,DOID:0080471 developmental and epileptic encephalopathy 36,DOID:0080470 peroxisome biogenesis disorder 2A,DOID:0080477 peroxisome biogenesis disorder 1A,DOID:0080476 psoriasis 2,DOID:0080475 pustular psoriasis 14,DOID:0080474 developmental and epileptic encephalopathy 15,DOID:0080414 familial adenomatous polyposis 4,DOID:0080412 choroiditis,DOID:11406 osteosarcoma,DOID:3347 osteitis fibrosa,DOID:3341 glycoproteinosis,DOID:3343 complete generalized lipodystrophy,DOID:0080298 Coffin-Siris syndrome 6,DOID:0080297 hypomyelinating leukodystrophy 14,DOID:0080296 short-rib thoracic dysplasia 19 with or without polydactyly,DOID:0080295 Charcot-Marie-Tooth disease dominant intermediate G,DOID:0080294 short-rib thoracic dysplasia 18 with polydactyly,DOID:0080293 retinitis pigmentosa 81,DOID:0080292 developmental and epileptic encephalopathy 59,DOID:0080291 familial erythrocytosis 5,DOID:0080290 hereditary night blindness,DOID:8498 night blindness,DOID:8499 Alzheimer's disease 3,DOID:0110042 gynecomastia,DOID:12698 oligospermia,DOID:14228 azoospermia,DOID:14227 abdominal obesity-metabolic syndrome 1,DOID:14221 ochronosis,DOID:14223 lacrimal duct obstruction,DOID:13929 eosinophilic esophagitis,DOID:13922 autosomal dominant nonsyndromic deafness 70,DOID:0110592 autosomal dominant nonsyndromic deafness 9,DOID:0110593 autosomal dominant nonsyndromic deafness 69,DOID:0110590 cataract 19 multiple types,DOID:0110263 primary ciliary dyskinesia 1,DOID:0110594 Stromme syndrome,DOID:0110595 cataract 22 multiple types,DOID:0110268 cataract 3 multiple types,DOID:0110269 primary ciliary dyskinesia 14,DOID:0110598 primary ciliary dyskinesia 3,DOID:0110599 anthrax disease,DOID:7427 brucellosis,DOID:11077 nephronophthisis 1,DOID:0111112 congenital diarrhea 5 with tufting enteropathy,DOID:0060776 congenital secretory sodium diarrhea 8,DOID:0060777 congenital diarrhea,DOID:0060774 microvillus inclusion disease,DOID:0060775 multiple types of congenital heart defects 6,DOID:0060772 cleft lip-palate-ectodermal dysplasia syndrome,DOID:0060773 Joubert syndrome 23,DOID:0110992 congenital diarrhea 7 with exudative enteropathy,DOID:0060778 congenital malabsorptive diarrhea 4,DOID:0060779 SADDAN,DOID:0111158 Joubert syndrome 24,DOID:0110993 familial melanoma,DOID:6846 focal segmental glomerulosclerosis,DOID:1312 congenital mirror movement disorder,DOID:0111153 germ cell and embryonal cancer,DOID:3095 postural orthostatic tachycardia syndrome,DOID:0111154 autoimmune polyendocrine syndrome type 2,DOID:0050168 cutaneous lupus erythematosus,DOID:0050169 hereditary spastic paraplegia 12,DOID:0110765 autoimmune polyendocrine syndrome type 1,DOID:0050167 purine nucleoside phosphorylase deficiency,DOID:5813 MHC class II deficiency,DOID:5812 adenosine deaminase deficiency,DOID:5810 hemangioma,DOID:255 pyruvate decarboxylase deficiency,DOID:3649 pancreatitis,DOID:4989 tarsal-carpal coalition syndrome,DOID:0050789 iridogoniodysgenesis syndrome,DOID:0050786 Ogden syndrome,DOID:0050781 necrosis of pituitary,DOID:3646 secondary progressive multiple sclerosis,DOID:0050783 Nager acrofacial dysostosis,DOID:5768 congenital stationary night blindness 1D,DOID:0110868 congenital stationary night blindness autosomal dominant 1,DOID:0110862 congenital stationary night blindness autosomal dominant 2,DOID:0110863 polycystic kidney disease 3,DOID:0110860 autosomal recessive polycystic kidney disease,DOID:0110861 congenital stationary night blindness 1C,DOID:0110867 congenital stationary night blindness 1F,DOID:0110864 congenital stationary night blindness 1B,DOID:0110865 varicocele,DOID:12337 male infertility,DOID:12336 biliary dyskinesia,DOID:4140 intraorbital meningioma,DOID:4141 inclusion body myositis,DOID:3429 vestibular disease,DOID:3426 Klippel-Feil syndrome 2,DOID:0080590 achondrogenesis,DOID:0080043 hypochondroplasia,DOID:0080041 Stickler syndrome,DOID:0080046 pseudoachondroplasia,DOID:0080047 hypochondrogenesis,DOID:0080044 Kniest dysplasia,DOID:0080045 Kleefstra syndrome 2,DOID:0080598 spinal chordoma,DOID:4153 acromesomelic dysplasia,DOID:0080049 Joubert syndrome 4,DOID:0110999 alopecia-mental retardation syndrome 1,DOID:0080628 corticosterone methyloxidase deficiency 1,DOID:0080626 Heimler syndrome 2,DOID:0080624 severe congenital neutropenia 1,DOID:0080625 peroxisome biogenesis disorder 2B,DOID:0080622 Heimler syndrome 1,DOID:0080623 familial glucocorticoid deficiency,DOID:0080620 glucocorticoid deficiency 1,DOID:0080621 glottis carcinoma,DOID:2599 laryngeal benign neoplasm,DOID:2598 familial nephrotic syndrome,DOID:2590 glottis cancer,DOID:2595 hepatitis,DOID:2237 prothrombin deficiency,DOID:2235 contact dermatitis,DOID:2773 autoimmune disease,DOID:417 scleroderma,DOID:419 systemic scleroderma,DOID:418 Bernard-Soulier syndrome type A2,DOID:0111059 Torrance type platyspondylic dysplasia,DOID:0111508 autonomic nervous system disease,DOID:11465 palmoplantar keratoderma-esophageal carcinoma syndrome,DOID:0111506 Lenz-Majewski hyperostotic dwarfism,DOID:0111507 Li-Fraumeni syndrome 2,DOID:0111504 palmoplantar keratoderma-deafness syndrome,DOID:0111505 combined oxidative phosphorylation deficiency 6,DOID:0111502 Li-Fraumeni syndrome 1,DOID:0111503 combined oxidative phosphorylation deficiency 23,DOID:0111500 combined oxidative phosphorylation deficiency 29,DOID:0111501 mood disorder,DOID:3324 congenital myasthenic syndrome 4C,DOID:0110679 congenital myasthenic syndrome 4A,DOID:0110678 myeloid sarcoma,DOID:8683 congenital myasthenic syndrome 17,DOID:0110674 congenital myasthenic syndrome 19,DOID:0110673 congenital myasthenic syndrome 21,DOID:0110672 congenital myasthenic syndrome 9,DOID:0110670 hypoglycemia,DOID:9993 progressive myoclonus epilepsy,DOID:891 congenital myasthenic syndrome 2A,DOID:0110681 Wilson disease,DOID:893 cardiovascular organ benign neoplasm,DOID:0060091 central nervous system benign neoplasm,DOID:0060090 uterine benign neoplasm,DOID:0060095 bone benign neoplasm,DOID:0060094 musculoskeletal system benign neoplasm,DOID:0060099 Angelman syndrome,DOID:1932 Rubinstein-Taybi syndrome,DOID:1933 Bardet-Biedl syndrome,DOID:1935 Cowden syndrome,DOID:6457 plexiform neurofibroma,DOID:5151 esophageal carcinoma,DOID:1107 acute proliferative glomerulonephritis,DOID:13138 glossitis,DOID:1456 KBG syndrome,DOID:14780 olivopontocerebellar atrophy,DOID:14784 polyarteritis nodosa,DOID:9810 spondyloepiphyseal dysplasia congenita,DOID:14789 Barber-Say syndrome,DOID:0060549 Van der Woude syndrome,DOID:0060239 Van Maldergem syndrome,DOID:0060238 Warburg micro syndrome,DOID:0060237 xanthinuria,DOID:0060236 carnitine palmitoyltransferase II deficiency,DOID:0060235 Carpenter syndrome,DOID:0060234 cardiofaciocutaneous syndrome,DOID:0060233 branchiootic syndrome,DOID:0060232 Bruck syndrome,DOID:0060231 Hermansky-Pudlak syndrome 8,DOID:0060546 hereditary elliptocytosis,DOID:2373 pilomatrixoma,DOID:5374 hemoglobin D disease,DOID:5378 hemoglobin E disease,DOID:5379 thrombocytopenia due to platelet alloimmunization,DOID:1587 cranioectodermal dysplasia,DOID:0050577 Senior-Loken syndrome,DOID:0050576 D-2-hydroxyglutaric aciduria,DOID:0050575 L-2-hydroxyglutaric aciduria,DOID:0050574 2-hydroxyglutaric aciduria,DOID:0050573 cone-rod dystrophy,DOID:0050572 congenital disorder of glycosylation type II,DOID:0050571 congenital disorder of glycosylation type I,DOID:0050570 glycogen storage disease XV,DOID:0050579 occult macular dystrophy,DOID:0050578 leiomyoma cutis,DOID:5132 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome,DOID:0060828 mitochondrial DNA depletion syndrome 12b,DOID:0080335 leiomyomatosis,DOID:5138 mitochondrial DNA depletion syndrome 15,DOID:0080337 autosomal dominant Emery-Dreifuss muscular dystrophy 5,DOID:0070250 synovial sarcoma,DOID:5485 amelanotic melanoma,DOID:4359 autosomal dominant Emery-Dreifuss muscular dystrophy 7,DOID:0070252 sea-blue histiocytosis,DOID:4423 congenital disorder of glycosylation type IIa,DOID:0070253 juvenile xanthogranuloma,DOID:4424 adrenal medulla cancer,DOID:5719 intellectual disability-severe speech delay-mild dysmorphism syndrome,DOID:0111331 combined saposin deficiency,DOID:0111330 early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome,DOID:0111333 Pitt-Hopkins-like syndrome 2,DOID:0111332 myopathy with extrapyramidal signs,DOID:0111335 congenital leptin deficiency,DOID:0111334 Jackson-Weiss syndrome,DOID:0111337 craniofacial-deafness-hand syndrome,DOID:0111336 Vohwinkel syndrome,DOID:0111339 familial erythrocytosis 3,DOID:0080338 familial erythrocytosis 4,DOID:0080339 developmental and epileptic encephalopathy 29,DOID:0080451 developmental and epileptic encephalopathy 17,DOID:0080450 developmental and epileptic encephalopathy 25,DOID:0080453 developmental and epileptic encephalopathy 28,DOID:0080452 developmental and epileptic encephalopathy 52,DOID:0080455 developmental and epileptic encephalopathy 42,DOID:0080454 "microcephaly, seizures, and developmental delay",DOID:0080457 developmental and epileptic encephalopathy 46,DOID:0080456 developmental and epileptic encephalopathy 12,DOID:0080459 developmental and epileptic encephalopathy 35,DOID:0080458 hormone producing pituitary cancer,DOID:5716 galactose epimerase deficiency,DOID:0111458 Charcot-Marie-Tooth disease dominant intermediate A,DOID:0110202 distal hereditary motor neuronopathy type 7,DOID:0111199 autosomal dominant distal hereditary motor neuronopathy,DOID:0111198 primary thrombocytopenia,DOID:8925 erythrokeratodermia variabilis et progressiva 1,DOID:0111195 autosomal dominant adult-onset proximal spinal muscular atrophy,DOID:0111194 autosomal recessive distal hereditary motor neuronopathy,DOID:0111197 X-linked distal spinal muscular atrophy 3,DOID:0111196 distal muscular dystrophy Tateyama type, distal muscular dystrophy 4, facioscapulohumeral muscular dystrophy 2,DOID:0111193 facioscapulohumeral muscular dystrophy 1,DOID:0111192 Charcot-Marie-Tooth disease dominant intermediate F,DOID:0110206 Treacher Collins syndrome,DOID:2908 Goldenhar syndrome,DOID:2907 Ewing sarcoma,DOID:3369 childhood osteosarcoma,DOID:3361 pulmonary valve stenosis,DOID:6420 localized scleroderma,DOID:8472 amelogenesis imperfecta hypomaturation type 2A5,DOID:0110063 amelogenesis imperfecta hypomaturation type 2A2,DOID:0110060 amelogenesis imperfecta hypomaturation type 2A3,DOID:0110061 amelogenesis imperfecta type 1G,DOID:0110066 amelogenesis imperfecta type 1H,DOID:0110064 amelogenesis imperfecta type 1F,DOID:0110065 frontotemporal dementia and/or amyotrophic lateral sclerosis-3,DOID:0110068 frontotemporal dementia and/or amyotrophic lateral sclerosis-4,DOID:0110069 childhood type dermatomyositis,DOID:14203 cataract 30,DOID:0110248 cataract 11 multiple types,DOID:0110249 cataract 36,DOID:0110247 cataract 38,DOID:0110245 cataract 13 with adult i phenotype,DOID:0110242 cataract 46 juvenile-onset,DOID:0110243 cataract 20 multiple types,DOID:0110240 cataract 41,DOID:0110241 bilateral breast cancer,DOID:6741 monoclonal gammopathy of uncertain significance,DOID:7442 ITM2B-related cerebral amyloid angiopathy 1,DOID:0070029 neurooculocardiogenitourinary syndrome,DOID:0111675 hyperinsulinism,DOID:2018 parasagittal meningioma,DOID:6869 pineoblastoma,DOID:1664 hyperthyroidism,DOID:7998 short chain acyl-CoA dehydrogenase deficiency,DOID:0080154 familial glomangioma,DOID:7996 thyrotoxicosis,DOID:7997 cerebrovascular disease,DOID:6713 Kartagener syndrome,DOID:0050144 depressive disorder,DOID:1596 chorioangioma,DOID:277 melancholic depression,DOID:1595 renovascular hypertension,DOID:1591 focal segmental glomerulosclerosis 9,DOID:0111134 Meckel's diverticulum,DOID:9487 disease of metabolism,DOID:0014667 aortic aneurysm,DOID:3627 urinary system cancer,DOID:3996 central nervous system cancer,DOID:3620 cannabis dependence,DOID:1849 Scheuermann's disease,DOID:13300 hereditary spastic paraplegia 48,DOID:0110800 hereditary spastic paraplegia 49,DOID:0110801 hereditary spastic paraplegia 50,DOID:0110802 hereditary spastic paraplegia 51,DOID:0110803 hereditary spastic paraplegia 52,DOID:0110804 hereditary spastic paraplegia 53,DOID:0110805 hereditary spastic paraplegia 54,DOID:0110806 granular corneal dystrophy,DOID:12318 hereditary spastic paraplegia 56,DOID:0110808 hereditary spastic paraplegia 57,DOID:0110809 syphilis,DOID:4166 aphthous stomatitis,DOID:9663 ganglioneuroblastoma,DOID:4163 senile cataract,DOID:9669 "spondyloepimetaphyseal dysplasia, Strudwick type",DOID:0080028 autosomal recessive spinocerebellar ataxia 16,DOID:0080029 nemaline myopathy,DOID:3191 neurilemmoma,DOID:3192 peripheral nerve sheath neoplasm,DOID:3193 Jansen's metaphyseal chondrodysplasia,DOID:0080020 Schmid metaphyseal chondrodysplasia,DOID:0080021 "otospondylomegaepiphyseal dysplasia, autosomal recessive",DOID:0080026 spondyloepimetaphyseal dysplasia,DOID:0080027 milk allergy,DOID:4376 oculocutaneous albinism type II,DOID:0070096 oculocutaneous albinism type III,DOID:0070097 oculocutaneous albinism type IA,DOID:0070094 oculocutaneous albinism type IB,DOID:0070095 schizophrenia 18,DOID:0070093 schizophrenia 15,DOID:0070091 oculocutaneous albinism type IV,DOID:0070098 Langerhans-cell histiocytosis,DOID:2571 Alzheimer's disease,DOID:10652 familial febrile seizures 8,DOID:0111298 generalized epilepsy with febrile seizures plus 10,DOID:0111296 generalized epilepsy with febrile seizures plus 2,DOID:0111294 idiopathic generalized epilepsy 10,DOID:0111292 Bloom syndrome,DOID:2717 diffuse cystic renal dysplasia,DOID:0111682 systemic lupus erythematosus,DOID:9074 histiocytoid hemangioma,DOID:474 skin hemangioma,DOID:471 angiokeratoma,DOID:479 tibial muscular dystrophy,DOID:0111078 myostatin-related muscle hypertrophy,DOID:0111072 progressive familial heart block,DOID:0111073 congenital bile acid synthesis defect 3,DOID:0111070 congenital bile acid synthesis defect 1,DOID:0111071 progressive familial heart block type IB,DOID:0111076 pyruvate kinase deficiency of red cells,DOID:0111077 progressive familial heart block type IA,DOID:0111074 long QT syndrome 14,DOID:0110655 long QT syndrome 13,DOID:0110654 congenital myasthenic syndrome 8,DOID:0110657 long QT syndrome 15,DOID:0110656 long QT syndrome 10,DOID:0110651 long QT syndrome 9,DOID:0110650 long QT syndrome 12,DOID:0110653 long QT syndrome 11,DOID:0110652 congenital myasthenic syndrome 7,DOID:0110659 congenital myasthenic syndrome 15,DOID:0110658 HCL-V,DOID:713 T-cell lymphoblastic leukemia/lymphoma, mumps,DOID:10264 autoimmune hemolytic anemia,DOID:718 nephroblastoma,DOID:2154 endomyocardial fibrosis,DOID:12932 bone cancer,DOID:184 spontaneous ocular nystagmus,DOID:11771 schizophreniform disorder,DOID:11328 rickets,DOID:10609 "hand, foot and mouth disease",DOID:10881 herpangina,DOID:10883 lepromatous leprosy,DOID:10887 short bowel syndrome,DOID:10605 prostatic hypertrophy,DOID:11132 secondary hypertension,DOID:11130 lactose intolerance,DOID:10604 Legg-Calve-Perthes disease,DOID:14415 glucose intolerance,DOID:10603 invasive bladder transitional cell carcinoma,DOID:6477 spondyloarthropathy,DOID:1123 blindness,DOID:1432 pyuria,DOID:1439 pituitary apoplexy,DOID:1129 galactosemia,DOID:9870 Balo concentric sclerosis,DOID:0060215 frontotemporal dementia and/or amyotrophic lateral sclerosis-2,DOID:0060214 amyotrophic lateral sclerosis type 20,DOID:0060211 amyotrophic lateral sclerosis type 19,DOID:0060210 frontotemporal dementia and/or amyotrophic lateral sclerosis-1,DOID:0060213 amyotrophic lateral sclerosis type 21,DOID:0060212 Fukuyama congenital muscular dystrophy,DOID:0050559 Ullrich congenital muscular dystrophy,DOID:0050558 X-linked sideroblastic anemia with ataxia,DOID:0050554 congenital muscular dystrophy,DOID:0050557 Wiskott-Aldrich syndrome,DOID:9169 JMP syndrome, bipolar ll disorder,DOID:0060166 cataract 12 multiple types,DOID:0110239 lip disease,DOID:9297 cleft lip,DOID:9296 commensal bacterial infectious disease,DOID:0050339 primary bacterial infectious disease,DOID:0050338 non-syndromic intellectual disability,DOID:0050889 syndromic intellectual disability,DOID:0050888 LADD syndrome,DOID:0081370 spinocerebellar ataxia type 5,DOID:0050882 inclusion body myopathy with Paget disease of bone and frontotemporal dementia,DOID:0050881 enlarged vestibular aqueduct,DOID:0050332 Townes-Brocks syndrome,DOID:0050887 Troyer syndrome,DOID:0050886 IMAGe syndrome,DOID:0050885 hypophosphatemia,DOID:0050336 achalasia,DOID:9164 colonic disease,DOID:5353 eczema herpeticum,DOID:9123 Loeys-Dietz syndrome 2,DOID:0070234 cataract 2 multiple types,DOID:0110235 cataract 4 multiple types,DOID:0110234 lysosomal acid lipase deficiency,DOID:0080217 tuberous sclerosis,DOID:13515 pain agnosia,DOID:0060145 bullous retinoschisis,DOID:12108 dacryoadenitis,DOID:950 Cockayne syndrome,DOID:2962 liposarcoma,DOID:3382 Papillon-Lefevre disease,DOID:3389 periodontal disease,DOID:3388 hemoglobinuria,DOID:582 achromatopsia 3,DOID:0110008 achromatopsia 7,DOID:0110009 salmonellosis,DOID:0060859 hypotonia-cystinuria syndrome,DOID:0060858 septooptic dysplasia,DOID:0060857 "3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome",DOID:0110001 autosomal dominant pseudohypoaldosteronism type 1,DOID:0060855 autosomal recessive pseudohypoaldosteronism type 1,DOID:0060854 Potocki-Lupski syndrome,DOID:0060853 Leber congenital amaurosis 9,DOID:0110005 annular pancreas,DOID:0060850 cataract 34 multiple types,DOID:0110230 Schaaf-Yang syndrome,DOID:0111715 autosomal recessive nonsyndromic deafness 31,DOID:0110490 Temple syndrome,DOID:0111713 Kagami-Ogata syndrome,DOID:0111712 focal nonepidermolytic palmoplantar keratoderma 2,DOID:0111711 focal or diffuse nonepidermolytic palmoplantar keratoderma,DOID:0111710 kidney angiomyolipoma,DOID:8411 narcolepsy,DOID:8986 neonatal jaundice,DOID:2383 anxiety disorder,DOID:2030 communication disorder,DOID:2033 encephalomalacia,DOID:2034 parathyroid adenoma,DOID:7608 syndromic X-linked intellectual disability 5,DOID:0060800 lymphadenitis,DOID:1602 MEHMO syndrome,DOID:0060801 anencephaly,DOID:0060668 cerebral cavernous malformation,DOID:0060669 syndromic X-linked intellectual disability Snyder type,DOID:0060802 adenocarcinoma,DOID:299 "3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia",DOID:0110003 nail-patella syndrome,DOID:9467 ovarian mucinous adenocarcinoma,DOID:3606 toxic encephalopathy,DOID:3602 extrinsic cardiomyopathy,DOID:3978 cephalosporin allergy,DOID:0040021 Usher syndrome type 3,DOID:0110828 type 2 diabetes mellitus,DOID:9352 Usher syndrome type 2,DOID:0110827 hereditary spastic paraplegia 9A,DOID:0110824 hereditary spastic paraplegia 9B,DOID:0110825 hereditary spastic paraplegia 77,DOID:0110822 hereditary spastic paraplegia 75,DOID:0110820 hereditary spastic paraplegia 76,DOID:0110821 syndromic X-linked intellectual disability Najm type,DOID:0060807 necrotizing fasciitis,DOID:9602 dengue shock syndrome,DOID:0050125 congenital disorder of glycosylation Ib,DOID:0080554 congenital disorder of glycosylation Ic,DOID:0080555 congenital disorder of glycosylation Id,DOID:0080556 congenital disorder of glycosylation Ie,DOID:0080557 Noonan syndrome with multiple lentigines 3,DOID:0080550 Naxos disease,DOID:0080551 congenital disorder of glycosylation Ia,DOID:0080552 congenital disorder of glycosylation Iaa,DOID:0080553 congenital disorder of glycosylation If,DOID:0080558 congenital disorder of glycosylation Ig,DOID:0080559 ischemic bone disease,DOID:0080008 X-linked dominant disease,DOID:0080009 neuronal ceroid lipofuscinosis 6A,DOID:0110729 achromatopsia 2,DOID:0110007 syndromic X-linked intellectual disability Claes-Jensen type,DOID:0060809 geniculate ganglionitis,DOID:14075 cardiovascular system disease,DOID:1287 granulomatous angiitis,DOID:2555 opiate dependence,DOID:2559 Wolfram syndrome,DOID:10632 CODAS syndrome,DOID:0111274 speech-language disorder-1,DOID:0111275 "sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",DOID:0111276 mitochondrial trifunctional protein deficiency,DOID:0111277 isolated sulfite oxidase deficiency,DOID:0111270 Oliver-McFarlane syndrome,DOID:0111271 occipital horn syndrome,DOID:0111272 histiocytosis-lymphadenopathy plus syndrome,DOID:0111278 psoriasis 7,DOID:0111279 Gilbert syndrome,DOID:2739 pseudoxanthoma elasticum,DOID:2738 Rothmund-Thomson syndrome,DOID:2732 vesiculobullous skin disease,DOID:2731 epidermolysis bullosa,DOID:2730 keratosis follicularis,DOID:2734 peroxisomal disease,DOID:906 Zellweger syndrome,DOID:905 pleomorphic adenoma,DOID:452 cone-rod dystrophy 5,DOID:0111010 cone-rod dystrophy 6,DOID:0111011 cone-rod dystrophy 7,DOID:0111012 cone-rod dystrophy 3,DOID:0111013 adrenal gland disease,DOID:9553 cone-rod dystrophy 13,DOID:0111016 cone-rod dystrophy 10,DOID:0111017 cone-rod dystrophy 11,DOID:0111018 cone-rod dystrophy 12,DOID:0111019 rigid spine muscular dystrophy 1,DOID:0110633 megaconial type congenital muscular dystrophy,DOID:0110632 muscular dystrophy-dystroglycanopathy type B6,DOID:0110637 congenital merosin-deficient muscular dystrophy 1A,DOID:0110636 muscular dystrophy-dystroglycanopathy type B5,DOID:0110635 neuronal ceroid lipofuscinosis 13,DOID:0110727 congenital muscular dystrophy due to integrin alpha-7 deficiency,DOID:0110639 thalassemia,DOID:10241 extrahepatic cholestasis,DOID:13619 3-methylglutaconic aciduria type 3,DOID:0110004 pterygium,DOID:0002116 nail disease,DOID:4123 autosomal dominant nonsyndromic deafness 3B,DOID:0110565 Charcot-Marie-Tooth disease dominant intermediate E,DOID:0110205 gangliocytoma,DOID:2426 hydronephrosis,DOID:11111 Gilles de la Tourette syndrome,DOID:11119 hypersensitivity reaction disease,DOID:0060056 popliteal pterygium syndrome,DOID:0060055 autoimmune disease of cardiovascular system,DOID:0060051 autoimmune disease of blood,DOID:0060050 oculocerebrorenal syndrome,DOID:1056 congenital syphilis,DOID:9856 lingual-facial-buccal dyskinesia,DOID:9854 Yunis-Varon syndrome,DOID:0060589 Noonan syndrome 10,DOID:0060588 autosomal recessive spinocerebellar ataxia 19,DOID:0080065 Noonan syndrome 7,DOID:0060585 Noonan syndrome 6,DOID:0060584 Noonan syndrome 9,DOID:0060587 Noonan syndrome 8,DOID:0060586 Noonan syndrome 3,DOID:0060581 Noonan syndrome 2,DOID:0060580 Noonan syndrome 5,DOID:0060583 Noonan syndrome 4,DOID:0060582 pontocerebellar hypoplasia type 4,DOID:0060273 pontocerebellar hypoplasia type 3,DOID:0060272 pontocerebellar hypoplasia type 2E,DOID:0060271 pontocerebellar hypoplasia type 2D,DOID:0060270 pontocerebellar hypoplasia type 8,DOID:0060277 pontocerebellar hypoplasia type 7,DOID:0060276 pontocerebellar hypoplasia type 6,DOID:0060275 pontocerebellar hypoplasia type 5,DOID:0060274 pontocerebellar hypoplasia type 10,DOID:0060279 pontocerebellar hypoplasia type 9,DOID:0060278 autosomal recessive spinocerebellar ataxia 11,DOID:0080063 hereditary sensory and autonomic neuropathy type 1A,DOID:0070152 Charcot-Marie-Tooth disease type 2,DOID:0050539 Charcot-Marie-Tooth disease type 1,DOID:0050538 intermediate spinal muscular atrophy,DOID:0050530 exudative vitreoretinopathy,DOID:0050535 congenital stationary night blindness,DOID:0050534 polydactyly,DOID:1148 amyotrophic lateral sclerosis,DOID:332 nutritional deficiency disease,DOID:5113 gyrate atrophy,DOID:1415 retinal cancer,DOID:4645 epidermolysis bullosa simplex,DOID:4644 familial retinoblastoma,DOID:4648 protein-energy malnutrition,DOID:11801 retinitis pigmentosa 4,DOID:0110372 retinitis pigmentosa 61,DOID:0110373 retinitis pigmentosa 56,DOID:0110371 collecting duct carcinoma,DOID:4464 clear cell renal cell carcinoma,DOID:4467 pustulosis of palm and sole,DOID:4398 retinitis pigmentosa 46,DOID:0110409 Vogt-Koyanagi-Harada disease,DOID:12297 Charcot-Marie-Tooth disease type 1F,DOID:0110149 Li-Fraumeni syndrome,DOID:3012 posterior fossa meningioma,DOID:4211 breast malignant phyllodes tumor,DOID:3016 iron deficiency anemia,DOID:11758 hypochromic anemia,DOID:11759 Charcot-Marie-Tooth disease type 1A,DOID:0110148 cornea squamous cell carcinoma,DOID:13538 craniopharyngioma,DOID:3840 osteopetrosis,DOID:13533 severe acute respiratory syndrome,DOID:2945 pica disease,DOID:12128 bulimia nervosa,DOID:12129 bronchiolitis,DOID:2942 pulmonary alveolar proteinosis,DOID:12120 combined oxidative phosphorylation deficiency 27,DOID:0111489 combined oxidative phosphorylation deficiency 31,DOID:0111488 combined oxidative phosphorylation deficiency 7,DOID:0111487 combined oxidative phosphorylation deficiency 3,DOID:0111486 combined oxidative phosphorylation deficiency 24,DOID:0111485 combined oxidative phosphorylation deficiency 18,DOID:0111484 combined oxidative phosphorylation deficiency 2,DOID:0111483 combined oxidative phosphorylation deficiency 36,DOID:0111482 combined oxidative phosphorylation deficiency 11,DOID:0111481 combined oxidative phosphorylation deficiency 10,DOID:0111480 scleritis,DOID:13452 frozen shoulder,DOID:14188 age related macular degeneration 14,DOID:0110026 age related macular degeneration 15,DOID:0110027 age related macular degeneration 12,DOID:0110024 age related macular degeneration 13,DOID:0110025 autosomal dominant keratitis-ichthyosis-deafness syndrome,DOID:0060871 isolated growth hormone deficiency,DOID:0060870 age related macular degeneration 8,DOID:0110020 age related macular degeneration 9,DOID:0110021 intestinal obstruction,DOID:8437 primary hypomagnesemia,DOID:0060879 hypoparathyroidism-deafness-renal disease syndrome,DOID:0060878 age related macular degeneration 5,DOID:0110028 Bartter disease type 4a,DOID:0110145 epithelioid sarcoma,DOID:6193 bradyopsia,DOID:0050335 distal arthrogryposis type 2B1,DOID:0111600 Bartter disease type 3,DOID:0110144 autosomal recessive limb-girdle muscular dystrophy type 2H,DOID:0110282 autosomal recessive limb-girdle muscular dystrophy type 2J,DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2F,DOID:0110280 autosomal recessive limb-girdle muscular dystrophy type 2G,DOID:0110281 autosomal recessive limb-girdle muscular dystrophy type 2S,DOID:0110287 autosomal recessive limb-girdle muscular dystrophy type 2L,DOID:0110284 autosomal recessive limb-girdle muscular dystrophy type 2Q,DOID:0110285 autosomal recessive limb-girdle muscular dystrophy type 2W,DOID:0110288 autosomal recessive limb-girdle muscular dystrophy type 2Y,DOID:0110289 excessive tearing,DOID:13757 post-traumatic stress disorder,DOID:2055 basal ganglia calcification,DOID:0060230 spindle cell lipoma,DOID:10184 chronic mucocutaneous candidiasis,DOID:2058 pancreatoblastoma,DOID:6823 plasma cell neoplasm,DOID:6536 demyelinating disease,DOID:3213 Alport syndrome,DOID:10983 pleural tuberculosis,DOID:106 Osgood-Schlatter's disease,DOID:7489 anterior segment dysgenesis,DOID:0060648 congenital hereditary endothelial dystrophy of cornea,DOID:0060649 recessive dystrophic epidermolysis bullosa,DOID:0060642 primary sclerosing cholangitis,DOID:0060643 ethylmalonic encephalopathy,DOID:0060640 endocrine-cerebro-osteodysplasia syndrome,DOID:0060641 fetal encasement syndrome,DOID:0060647 chondrodysplasia-pseudohermaphroditism syndrome,DOID:0060644 chronic recurrent multifocal osteomyelitis,DOID:0060645 pseudosarcomatous fibromatosis,DOID:7327 multiple epiphyseal dysplasia,DOID:12721 "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive",DOID:0090014 Cenani-Lenz syndactyly syndrome,DOID:0090015 chromosome 5q deletion syndrome,DOID:0090016 epidermolysis bullosa simplex with muscular dystrophy,DOID:0090017 immunodeficiency-centromeric instability-facial anomalies syndrome 3,DOID:0090010 immunodeficiency-centromeric instability-facial anomalies syndrome 4,DOID:0090011 severe combined immunodeficiency with sensitivity to ionizing radiation,DOID:0090012 "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive",DOID:0090013 autosomal dominant familial periodic fever,DOID:0090018 sitosterolemia,DOID:0090019 filariasis,DOID:1080 Edwards syndrome,DOID:1085 meningocele,DOID:1088 secondary hyperparathyroidism,DOID:12466 cholangitis,DOID:9446 leukoencephalopathy with vanishing white matter,DOID:0060868 shrimp allergy,DOID:0040001 viral hepatitis,DOID:1884 vesicoureteral reflux,DOID:9620 congenital disorder of glycosylation Iw,DOID:0080572 congenital disorder of glycosylation Ix,DOID:0080573 congenital disorder of glycosylation It,DOID:0080570 congenital disorder of glycosylation Iu,DOID:0080571 "spondyloepimetaphyseal dysplasia, Genevieve-type",DOID:0080576 polygenic disease,DOID:0080577 congenital disorder of glycosylation Iy,DOID:0080574 Larsen-like syndrome B3GAT3 type,DOID:0080575 digenic disease,DOID:0080578 3-Methylcrotonyl-CoA carboxylase 1 deficiency,DOID:0080579 adrenal cortex disease,DOID:3952 adrenal gland cancer,DOID:3953 Landau-Kleffner syndrome,DOID:2538 hematologic cancer,DOID:2531 tricuspid valve stenosis,DOID:4078 heart valve disease,DOID:4079 neurofibromatosis 2, neurofibromatosis 1,DOID:0111253 Parkinson's disease 3,DOID:0111250 hyperferritinemia-cataract syndrome,DOID:0111256 gamma-glutamyl transpeptidase deficiency,DOID:0111257 glutaric acidemia I,DOID:0111254 McKusick-Kaufman syndrome,DOID:0111255 pentosuria,DOID:0111258 postaxial acrofacial dysostosis,DOID:0111259 uveal disease,DOID:3480 hidradenitis,DOID:2282 hidradenitis suppurativa,DOID:2280 frontal lobe epilepsy,DOID:3331 orofaciodigital syndrome XVII,DOID:0080289 hypermethioninemia due to adenosine kinase deficiency,DOID:0111038 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase,DOID:0111039 CADASIL 2,DOID:0111036 glycine N-methyltransferase deficiency,DOID:0111037 hemochromatosis type 2,DOID:0111034 CADASIL 1,DOID:0111035 hemochromatosis type 2B,DOID:0111032 African iron overload,DOID:0111033 hemochromatosis type 3,DOID:0111030 hemochromatosis type 5,DOID:0111031 microphthalmia with limb anomalies,DOID:0060861 familial lipoprotein lipase deficiency,DOID:14118 pancreatic adenocarcinoma,DOID:4074 patterned macular dystrophy 1,DOID:0060866 autosomal recessive nonsyndromic deafness 28,DOID:0110486 phaeohyphomycosis,DOID:14049 autoimmune polyendocrine syndrome,DOID:14040 bipolar I disorder,DOID:14042 tracheal stenosis,DOID:3227 tracheal disease,DOID:3225 exostosis,DOID:203 macrocephaly-autism syndrome,DOID:0060867 autosomal recessive nonsyndromic deafness 22,DOID:0110480 autosomal recessive cutis laxa type I,DOID:0070144 hereditary sensory and autonomic neuropathy type 5,DOID:0070145 hereditary sensory neuropathy type 4,DOID:0070146 hereditary sensory neuropathy type 2C,DOID:0070147 autosomal recessive cutis laxa type IIC,DOID:0070140 autosomal recessive cutis laxa type II classic type,DOID:0070141 hyperostosis,DOID:205 primary ciliary dyskinesia 33,DOID:0110619 primary ciliary dyskinesia 13,DOID:0110618 osteogenesis imperfecta type 9,DOID:0110349 osteogenesis imperfecta type 12,DOID:0110348 primary ciliary dyskinesia 27,DOID:0110611 primary ciliary dyskinesia 34,DOID:0110610 primary ciliary dyskinesia 16,DOID:0110613 primary ciliary dyskinesia 10,DOID:0110612 primary ciliary dyskinesia 25,DOID:0110615 primary ciliary dyskinesia 5,DOID:0110617 enophthalmos,DOID:11175 hypokalemic periodic paralysis,DOID:14452 46 XX gonadal dysgenesis,DOID:14450 hyperkalemic periodic paralysis,DOID:14451 estrogen-receptor positive breast cancer,DOID:0060075 ductal carcinoma in situ,DOID:0060074 estrogen-receptor negative breast cancer,DOID:0060076 pre-malignant neoplasm,DOID:0060071 lymphatic system cancer,DOID:0060073 benign neoplasm,DOID:0060072 invasive aspergillosis,DOID:0050073 mucoepidermoid carcinoma,DOID:4531 renal-hepatic-pancreatic dysplasia,DOID:0060259 reticulate acropigmentation of Kitamura,DOID:0060258 sclerosteosis,DOID:0060251 idiopathic scoliosis,DOID:0060250 scapuloperoneal myopathy,DOID:0060253 sclerocornea,DOID:0060252 rippling muscle disease 2,DOID:0060255 Robinow syndrome,DOID:0060254 dyschromatosis symmetrica hereditaria,DOID:0060257 Dowling-Degos disease,DOID:0060256 bronchial disease,DOID:1176 progressive muscular atrophy,DOID:318 spinal cord disease,DOID:319 tenosynovial giant cell tumor,DOID:314 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly,DOID:0111262 MERRF syndrome,DOID:310 Klippel-Feil syndrome,DOID:10426 degenerative myopia,DOID:11829 dermatomyositis,DOID:10223 hepatorenal syndrome,DOID:11823 ovarian dysgenesis 3,DOID:0080495 prolactinoma,DOID:5394 functioning pituitary adenoma,DOID:5395 tuberous sclerosis 1,DOID:0080324 polycystic kidney disease,DOID:0080322 autonomic nervous system benign neoplasm,DOID:0080321 peripheral nervous system benign neoplasm,DOID:0080320 histidinemia,DOID:0060168 periventricular leukomalacia,DOID:13088 intracranial arterial disease,DOID:13089 autosomal dominant Emery-Dreifuss muscular dystrophy 4,DOID:0070249 autosomal recessive nonsyndromic deafness 111,DOID:0111640 Culler-Jones syndrome,DOID:0080328 autosomal recessive nonsyndromic deafness 115,DOID:0111643 mucinous adenocarcinoma,DOID:3030 angle-closure glaucoma,DOID:13550 macular retinal edema,DOID:4449 macular degeneration,DOID:4448 neurogenic bladder,DOID:12143 Chagas disease,DOID:12140 dysgerminoma,DOID:4441 seminoma,DOID:4440 cystoid macular edema,DOID:4447 esophagus adenocarcinoma,DOID:4914 pituitary carcinoma,DOID:4916 Horner's syndrome,DOID:11486 hemopericardium,DOID:11482 constrictive pericarditis,DOID:11481 epithelial recurrent erosion dystrophy,DOID:0070337 duodenal atresia,DOID:0080216 developmental and epileptic encephalopathy 8,DOID:0080215 punctate palmoplantar keratoderma type I,DOID:0080214 multiple mitochondrial dysfunctions syndrome 6,DOID:0070332 multiple mitochondrial dysfunctions syndrome,DOID:0070330 dystransthyretinemic hyperthyroxinemia,DOID:0080219 primary spontaneous pneumothorax,DOID:0080218 syndromic X-linked intellectual disability Siderius type,DOID:0060812 syndromic X-linked intellectual disability Turner type,DOID:0060811 syndromic X-linked intellectual disability type 10,DOID:0060810 syndromic X-linked intellectual disability 34,DOID:0060817 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome,DOID:0060816 Miles-Carpenter syndrome,DOID:0060815 Wilson-Turner syndrome,DOID:0060814 congenital fibrosarcoma,DOID:8418 pneumonia,DOID:552 kidney disease,DOID:557 vulvar squamous tumor,DOID:2072 pituitary adenoma,DOID:3829 retinitis pigmentosa 11,DOID:0110408 retinitis pigmentosa 36,DOID:0110405 retinitis pigmentosa 30,DOID:0110406 retinitis pigmentosa 57,DOID:0110407 retinitis pigmentosa 74,DOID:0110401 retinitis pigmentosa 45,DOID:0110402 female reproductive organ cancer,DOID:120 iritis,DOID:1406 leiomyoma,DOID:127 retinitis pigmentosa 51,DOID:0110398 retinitis pigmentosa 37,DOID:0110399 anterior uveitis,DOID:1407 ataxia telangiectasia,DOID:12704 Friedreich ataxia,DOID:12705 hyperprolactinemia,DOID:12700 Silverman-Handmaker type dyssegmental dysplasia,DOID:0090032 myoclonic dystonia,DOID:0090033 corticosteroid-binding globulin deficiency,DOID:0090030 D-bifunctional protein deficiency,DOID:0090031 myoclonic dystonia 26,DOID:0090036 myoclonic dystonia 11,DOID:0090034 torsion dystonia 2,DOID:0090038 torsion dystonia 6,DOID:0090039 thoracic cancer,DOID:5093 aplastic anemia,DOID:12449 intracranial hypertension,DOID:9428 blepharitis,DOID:9423 lipid metabolism disorder,DOID:3146 Rett syndrome,DOID:1206 allergic disease,DOID:1205 brachydactyly type A1D,DOID:0110978 childhood electroclinical syndrome,DOID:0050704 adolescence-adult electroclinical syndrome,DOID:0050705 variable age at onset electroclinical syndrome,DOID:0050706 cardiomyopathy,DOID:0050700 electroclinical syndrome,DOID:0050701 neonatal period electroclinical syndrome,DOID:0050702 early infantile epileptic encephalopathy,DOID:0050709 basal cell carcinoma,DOID:2513 nevoid basal cell carcinoma syndrome,DOID:2512 brachydactyly type A1C,DOID:0110977 autonomic nervous system neoplasm,DOID:2621 testicular disease,DOID:2519 orchitis,DOID:2518 alveolar rhabdomyosarcoma,DOID:4051 congenital muscular dystrophy-dystroglycanopathy type A13,DOID:0111238 congenital muscular dystrophy-dystroglycanopathy type A10,DOID:0111239 congenital muscular dystrophy-dystroglycanopathy type A11,DOID:0111230 congenital muscular dystrophy-dystroglycanopathy type A8,DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A9,DOID:0111232 congenital muscular dystrophy-dystroglycanopathy A14,DOID:0111233 congenital muscular dystrophy-dystroglycanopathy A7,DOID:0111234 congenital muscular dystrophy-dystroglycanopathy type A12,DOID:0111235 congenital muscular dystrophy-dystroglycanopathy type A3,DOID:0111236 congenital muscular dystrophy-dystroglycanopathy type A1,DOID:0111237 Meier-Gorlin syndrome 7,DOID:0080518 PAPA syndrome,DOID:0080519 epidermolysis bullosa simplex localized type,DOID:0080510 epidermolysis bullosa simplex generalized type,DOID:0080511 Meier-Gorlin syndrome 1,DOID:0080512 Meier-Gorlin syndrome 2,DOID:0080513 Meier-Gorlin syndrome 3,DOID:0080514 Meier-Gorlin syndrome 4,DOID:0080515 Meier-Gorlin syndrome 5,DOID:0080516 Meier-Gorlin syndrome 6,DOID:0080517 Martsolf syndrome,DOID:0111586 Gordon Holmes syndrome,DOID:0111587 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,DOID:0111584 carnitine-acylcarnitine translocase deficiency,DOID:0111585 hereditary arterial and articular multiple calcification syndrome,DOID:0111582 carboxypeptidase N deficiency,DOID:0111583 Behr syndrome,DOID:0111580 C syndrome,DOID:0111581 Greenberg dysplasia,DOID:0111588 panniculitis,DOID:1526 Norrie disease,DOID:0060844 neurilemmomatosis, junctional epidermolysis bullosa,DOID:3209 Leber congenital amaurosis 15,DOID:0110189 Leber congenital amaurosis 14,DOID:0110188 acute kidney failure,DOID:3021 Charcot-Marie-Tooth disease axonal type 2Z,DOID:0110181 Charcot-Marie-Tooth disease axonal type 2CC,DOID:0110180 Charcot-Marie-Tooth disease type 4C,DOID:0110183 Charcot-Marie-Tooth disease axonal type 2C,DOID:0110182 Charcot-Marie-Tooth disease type 4A,DOID:0110185 Charcot-Marie-Tooth disease type 4J,DOID:0110184 Charcot-Marie-Tooth disease type 4K,DOID:0110187 familial adult myoclonic epilepsy 5,DOID:0111691 Hermansky-Pudlak syndrome 7,DOID:0060545 dilated cardiomyopathy,DOID:12930 mitochondrial complex III deficiency nuclear type 8,DOID:0080117 spermatogenic failure 3,DOID:0070168 spermatogenic failure 8,DOID:0070169 hereditary sensory and autonomic neuropathy type 1,DOID:0070162 spermatogenic failure 21,DOID:0070163 hereditary sensory and autonomic neuropathy type 2,DOID:0070161 spermatogenic failure 20,DOID:0070166 spermatogenic failure 6,DOID:0070167 autosomal dominant nonsyndromic deafness 13,DOID:0110545 retinitis pigmentosa 54,DOID:0110364 retinitis pigmentosa 38,DOID:0110367 retinitis pigmentosa 75,DOID:0110361 retinitis pigmentosa 39,DOID:0110360 complement component 3 deficiency,DOID:8354 epithelioid malignant peripheral nerve sheath tumor,DOID:8353 hypohidrosis,DOID:11155 anhidrosis,DOID:11156 lymphedema-distichiasis syndrome,DOID:0111509 coronin-1A deficiency,DOID:0060019 X-linked severe combined immunodeficiency,DOID:0060013 Omenn syndrome,DOID:0060010 uveal epithelioid cell melanoma,DOID:7040 extrinsic allergic alveolitis,DOID:841 isolated microphthalmia 3,DOID:0060842 major depressive disorder,DOID:1470 lymphangioma,DOID:1475 aggressive periodontitis,DOID:1474 familial adult myoclonic epilepsy 6,DOID:0111696 Hermansky-Pudlak syndrome 6,DOID:0060544 secondary hypertrophic osteoarthropathy,DOID:10393 nutrition disease,DOID:374 coronary artery vasospasm,DOID:11840 paralytic poliomyelitis,DOID:0050515 small intestine carcinoma,DOID:4907 Greig cephalopolysyndactyly syndrome,DOID:14761 pancreatic carcinoma,DOID:4905 brachydactyly type B1,DOID:0110969 brachydactyly type A2,DOID:0110965 brachydactyly type A1,DOID:0110964 atypical Gaucher's disease due to saposin c deficiency,DOID:0110961 Gaucher's disease perinatal lethal,DOID:0110960 iris disease,DOID:240 biliary tract cancer,DOID:4607 bile duct cancer,DOID:4606 congenital fibrosis of the extraocular muscles,DOID:0080143 uterine corpus endometrial carcinoma,DOID:0050939 breast lobular carcinoma,DOID:0050938 ovarian clear cell carcinoma,DOID:0050934 ovarian serous carcinoma,DOID:0050933 mosaic variegated aneuploidy syndrome 2,DOID:0080142 pseudohypoparathyroidism type IB,DOID:0080222 renal oncocytoma,DOID:6245 multiple epiphyseal dysplasia 1,DOID:0070303 multiple epiphyseal dysplasia 4,DOID:0070300 multiple epiphyseal dysplasia 6,DOID:0070301 apocrine sweat gland cancer,DOID:4934 apocrine carcinoma,DOID:4933 nasal cavity carcinoma,DOID:4931 autosomal recessive intellectual developmental disorder 61,DOID:0080239 pulmonary sarcoidosis,DOID:13406 autosomal dominant intellectual developmental disorder 46,DOID:0080237 amyotrophic lateral sclerosis type 23,DOID:0080225 autosomal dominant intellectual developmental disorder 50,DOID:0080233 autosomal dominant intellectual developmental disorder 51,DOID:0080232 alexia,DOID:13417 isolated microphthalmia 7,DOID:0060838 hereditary spherocytosis type 2,DOID:0110917 hepatic encephalopathy,DOID:13413 Griscelli syndrome,DOID:0060831 thyroid gland Hurthle cell carcinoma,DOID:8161 Griscelli syndrome type 2,DOID:0060833 Griscelli syndrome type 1,DOID:0060832 isolated microphthalmia 6,DOID:0060835 autosomal dominant intellectual developmental disorder 53,DOID:0080228 isolated microphthalmia 5,DOID:0060837 absence epilepsy,DOID:0070309 cervix carcinoma,DOID:2893 proteinuria,DOID:576 sensorineural hearing loss,DOID:10003 nerve compression syndrome,DOID:573 fundus dystrophy,DOID:8501 hereditary spastic paraplegia 46,DOID:0110798 hereditary spastic paraplegia 47,DOID:0110799 hereditary spastic paraplegia 42,DOID:0110794 hereditary spastic paraplegia 43,DOID:0110795 hereditary spastic paraplegia 44,DOID:0110796 hereditary spastic paraplegia 45,DOID:0110797 hereditary spastic paraplegia 39,DOID:0110790 hereditary spastic paraplegia 3A,DOID:0110791 hereditary spastic paraplegia 4,DOID:0110792 sweat gland cancer,DOID:2095 COACH syndrome,DOID:0111589 dry eye syndrome,DOID:10140 "Hodgkin's lymphoma, nodular sclerosis",DOID:8838 dilated cardiomyopathy 1C,DOID:0110423 dilated cardiomyopathy 1D,DOID:0110426 dilated cardiomyopathy 1V,DOID:0110427 dilated cardiomyopathy 1CC,DOID:0110424 dilated cardiomyopathy 1A,DOID:0110425 papilledema,DOID:146 Sjogren's syndrome,DOID:12894 keratoconjunctivitis sicca,DOID:12895 enhanced S-cone syndrome,DOID:0090059 dystonia 27,DOID:0090050 dystonia 24,DOID:0090052 episodic kinesigenic dyskinesia 1,DOID:0090053 dystonia 25,DOID:0090055 dystonia 12,DOID:0090056 X-linked dystonia-parkinsonism,DOID:0090057 childhood optic nerve glioma,DOID:6576 myxopapillary ependymoma,DOID:5075 high grade ependymoma,DOID:5074 subependymal giant cell astrocytoma,DOID:5077 mixed glioma,DOID:5076 ganglioglioma,DOID:5078 disease,DOID:4 disease of anatomical entity,DOID:7 hypopituitarism,DOID:9406 epididymitis,DOID:9402 acute myocardial infarction,DOID:9408 diabetes insipidus,DOID:9409 retinitis pigmentosa 13,DOID:0110403 multiple acyl-CoA dehydrogenase deficiency,DOID:0060358 microcephalic osteodysplastic primordial dwarfism type II,DOID:0060609 Stormorken syndrome,DOID:0060354 amyotrophic lateral sclerosis type 22,DOID:0060355 Vici syndrome,DOID:0060356 chylomicron retention disease,DOID:0060357 adenine phosphoribosyltransferase deficiency,DOID:0060350 mitochondrial complex III deficiency nuclear type 2,DOID:0060351 Kleefstra syndrome 1,DOID:0060352 acrofacial dysostosis Cincinnati type,DOID:0060353 megaloblastic anemia,DOID:13382 pernicious anemia,DOID:13381 neutropenia,DOID:1227 holoprosencephaly 4,DOID:0110880 inflammatory bowel disease 17,DOID:0110883 inflammatory bowel disease 10,DOID:0110885 entropion,DOID:12397 pathological gambling,DOID:12399 peritonitis,DOID:8283 polycythemia vera,DOID:8997 Plasmodium falciparum malaria,DOID:14067 melanotic neurilemmoma,DOID:3205 autoimmune thrombocytopenic purpura,DOID:8924 PHGDH deficiency,DOID:0050722 PSAT deficiency,DOID:0050723 ornithine translocase deficiency,DOID:0050720 tyrosinemia type I,DOID:0050726 tyrosinemia type III,DOID:0050727 strabismus,DOID:540 autosomal dominant centronuclear myopathy,DOID:0111217 distal spinal muscular atrophy type 5,DOID:0111214 distal hereditary motor neuronopathy type 8,DOID:0111215 distal hereditary motor neuronopathy type 9,DOID:0111212 distal spinal muscular atrophy type 4,DOID:0111213 distal hereditary motor neuronopathy type 2D,DOID:0111210 Friedreich ataxia 1,DOID:0111218 hypermanganesemia with dystonia 1,DOID:0080536 hypermanganesemia with dystonia 2,DOID:0080537 myxofibrosarcoma,DOID:0080534 hypermanganesemia with dystonia,DOID:0080535 Carney-Stratakis syndrome,DOID:0080533 granular corneal dystrophy 1,DOID:0080530 dedifferentiated liposarcoma,DOID:0080531 Sweeney-Cox syndrome,DOID:0080538 PEHO syndrome,DOID:0080539 episodic ataxia,DOID:963 neurofibroma,DOID:962 Charcot-Marie-Tooth disease type 4D,DOID:0110186 thoracic aortic aneurysm,DOID:14004 chronic granulomatous disease,DOID:3265 phagocyte bactericidal dysfunction,DOID:3262 spindle cell rhabdomyosarcoma,DOID:3260 hyper IgE recurrent infection syndrome 1,DOID:3261 nephrotic syndrome type 17,DOID:0080392 nephrotic syndrome type 18,DOID:0080393 nephrotic syndrome type 1,DOID:0080390 nephrotic syndrome type 9,DOID:0080391 nephrotic syndrome type 19,DOID:0080394 Charcot-Marie-Tooth disease axonal type 2K,DOID:0110167 Charcot-Marie-Tooth disease type 2E,DOID:0110165 Charcot-Marie-Tooth disease type 2D,DOID:0110164 Charcot-Marie-Tooth disease axonal type 2F,DOID:0110163 "Charcot-Marie-Tooth disease, axonal type 2W",DOID:0110162 Charcot-Marie-Tooth disease type 2R,DOID:0110161 Charcot-Marie-Tooth disease axonal type 2T,DOID:0110160 idiopathic interstitial pneumonia,DOID:2797 Charcot-Marie-Tooth disease axonal type 2P,DOID:0110169 Charcot-Marie-Tooth disease type 2Y,DOID:0110168 bullous pemphigoid,DOID:8506 alcoholic cardiomyopathy,DOID:12935 pathologic nystagmus,DOID:9650 Kearns-Sayre syndrome,DOID:12934 oculocutaneous albinism type VII,DOID:0070100 oral mucosa leukoplakia,DOID:9655 biliary atresia,DOID:13608 appendicitis,DOID:8337 autosomal dominant limb-girdle muscular dystrophy type 3,DOID:0110306 autosomal dominant limb-girdle muscular dystrophy type 1,DOID:0110305 autosomal dominant limb-girdle muscular dystrophy type 2,DOID:0110304 hypertrophic cardiomyopathy 3,DOID:0110309 "Hodgkin's lymphoma, lymphocytic depletion",DOID:8628 astroblastoma,DOID:7305 Werdnig-Hoffmann disease,DOID:13137 glomangioma,DOID:2436 autoimmune disease of gastrointestinal tract,DOID:0060031 "autoimmune disease of eyes, ear, nose and throat",DOID:0060030 autoimmune disease of peripheral nervous system,DOID:0060033 autoimmune disease of musculoskeletal system,DOID:0060032 developmental disorder of mental health,DOID:0060037 intrinsic cardiomyopathy,DOID:0060036 autoimmune disease of skin and connective tissue,DOID:0060039 specific developmental disorder,DOID:0060038 polycythemia,DOID:8432 total third-nerve palsy,DOID:10866 crescentic glomerulonephritis,DOID:13139 complement component 6 deficiency,DOID:0060299 complement component 4b deficiency,DOID:0060298 complement component 2 deficiency,DOID:0060295 cold-induced sweating syndrome,DOID:0060294 complement component 4a deficiency,DOID:0060297 oculodentodigital dysplasia,DOID:0060291 "blepharophimosis-intellectual disability syndrome, SBBYS type",DOID:0060290 X-linked chondrodysplasia punctata 1,DOID:0060292 hepatocellular carcinoma,DOID:684 liver carcinoma,DOID:686 tauopathy,DOID:680 progressive bulbar palsy,DOID:681 compartment syndrome,DOID:682 motor neuritis,DOID:683 gastric ulcer,DOID:10808 embryonal cancer,DOID:688 Crohn's disease,DOID:8778 spermatogenic failure 18,DOID:0070165 retinitis pigmentosa 28,DOID:0110365 mastocytosis,DOID:350 retinitis pigmentosa 33,DOID:0110366 retinitis pigmentosa 71,DOID:0110363 retinitis pigmentosa 58,DOID:0110362 urticaria,DOID:1555 retinitis pigmentosa 47,DOID:0110369 retinitis pigmentosa 26,DOID:0110368 familial febrile seizures 2,DOID:0111310 Werner syndrome,DOID:5688 hereditary breast ovarian cancer syndrome,DOID:5683 embryonal testis carcinoma,DOID:5680 "spondyloepimetaphyseal dysplasia, Sponastrime type",DOID:5684 autosomal recessive osteopetrosis 6,DOID:0110945 autosomal recessive osteopetrosis 4,DOID:0110944 autosomal recessive osteopetrosis 7,DOID:0110946 autosomal recessive osteopetrosis 3,DOID:0110941 autosomal recessive osteopetrosis 8,DOID:0110940 autosomal recessive osteopetrosis 2,DOID:0110943 autosomal recessive osteopetrosis 1,DOID:0110942 Waardenburg syndrome type 3,DOID:0110949 Waardenburg syndrome type 1,DOID:0110948 holoprosencephaly,DOID:4621 pityriasis rubra pilaris,DOID:9212 hydranencephaly,DOID:4626 Ollier disease,DOID:4624 colon adenoma,DOID:0050912 anaplastic astrocytoma,DOID:3078 ovarian squamous cell carcinoma,DOID:5531 developmental and epileptic encephalopathy 91,DOID:0080472 retinitis pigmentosa 69,DOID:0110410 otosclerosis,DOID:12185 rhinitis,DOID:4483 allergic rhinitis,DOID:4481 achondroplasia,DOID:4480 epidermolysis bullosa dystrophica,DOID:4959 sarcomatoid mesothelioma,DOID:4488 autosomal recessive spinocerebellar ataxia 25,DOID:0080259 autosomal recessive congenital ichthyosis 14,DOID:0080258 Meckel syndrome 13,DOID:0080253 spastic ataxia 8,DOID:0080252 erythrokeratodermia variabilis et progressiva 5,DOID:0080251 erythrokeratodermia variabilis et progressiva 4,DOID:0080250 autosomal recessive congenital ichthyosis 13,DOID:0080257 Perrault syndrome 6,DOID:0080256 Meier-Gorlin syndrome 8,DOID:0080255 orofaciodigital syndrome XVI,DOID:0080254 stereotypic movement disorder,DOID:2303 spondylolysis,DOID:2300 duodenum cancer,DOID:10021 migraine with aura,DOID:10024 kidney cortex disease,DOID:0080616 congenital secretory chloride diarrhea 1,DOID:0060296 venous insufficiency,DOID:10128 keratoconus,DOID:10126 corneal disease,DOID:10124 pigmentation disease,DOID:10123 dilated cardiomyopathy 1J,DOID:0110440 dilated cardiomyopathy 2B,DOID:0110441 dilated cardiomyopathy 1X,DOID:0110444 dilated cardiomyopathy 1KK,DOID:0110445 dilated cardiomyopathy 1DD,DOID:0110447 dilated cardiomyopathy 1HH,DOID:0110448 dilated cardiomyopathy 1M,DOID:0110449 keratosis,DOID:161 cancer,DOID:162 neuroendocrine tumor,DOID:169 Kaposi's sarcoma,DOID:8632 hypogonadotropic hypogonadism 18 with or without anosmia,DOID:0090076 hypogonadotropic hypogonadism 4 with or without anosmia,DOID:0090077 hypogonadotropic hypogonadism 8 with or without anosmia,DOID:0090074 hypogonadotropic hypogonadism 15 with or without anosmia,DOID:0090075 hypogonadotropic hypogonadism 12 with or without anosmia,DOID:0090072 hypogonadotropic hypogonadism 13 with or without anosmia,DOID:0090073 hypogonadotropic hypogonadism,DOID:0090070 hypogonadotropic hypogonadism 11 with or without anosmia,DOID:0090071 arteriovenous malformation,DOID:11294 hypogonadotropic hypogonadism 7 with or without anosmia,DOID:0090078 hypogonadotropic hypogonadism 17 with or without anosmia,DOID:0090079 amyotrophic lateral sclerosis type 2,DOID:0060194 patent ductus arteriosus,DOID:13832 Crohn's colitis,DOID:0060192 amyotrophic lateral sclerosis type 1,DOID:0060193 malignant mesothelioma,DOID:1790 pancreatic cancer,DOID:1793 Ehrlich tumor carcinoma,DOID:5050 pancreatic endocrine carcinoma,DOID:1798 islet cell tumor,DOID:1799 familial periodic paralysis,DOID:1029 acrofacial dysostosis,DOID:0060379 Parkinson's disease 15,DOID:0060372 Parkinson's disease 7,DOID:0060370 Parkinson's disease 8,DOID:0060371 Joubert syndrome with orofaciodigital defect,DOID:0060376 orofaciodigital syndrome IV,DOID:0060374 orofaciodigital syndrome V,DOID:0060375 blood coagulation disease,DOID:1247 vulva cancer,DOID:1245 globe disease,DOID:1242 leukemia,DOID:1240 cervical incompetence,DOID:9681 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1, newborn respiratory distress syndrome,DOID:12716 marginal zone lymphoma,DOID:0050748 peripheral T-cell lymphoma,DOID:0050749 alcohol dependence,DOID:0050741 nicotine dependence,DOID:0050742 mature T-cell and NK-cell lymphoma,DOID:0050743 anaplastic large cell lymphoma,DOID:0050744 diffuse large B-cell lymphoma,DOID:0050745 mantle cell lymphoma,DOID:0050746 benign perivascular tumor,DOID:5238 malignant peripheral nerve sheath tumor,DOID:5940 hepatoerythropoietic porphyria,DOID:5230 sarcomatoid carcinoma,DOID:4015 dysgraphia,DOID:4540 auditory system disease,DOID:2742 bilirubin metabolic disorder,DOID:2741 glycogen storage disease,DOID:2747 pulmonary fibrosis,DOID:3770 narcissistic personality disorder,DOID:2745 intraventricular meningioma,DOID:3772 xanthomatosis,DOID:3345 choroidal sclerosis,DOID:980 alopecia,DOID:987 alopecia areata,DOID:986 mitral valve prolapse,DOID:988 Fanconi anemia complementation group B,DOID:0111098 maturity-onset diabetes of the young type 1,DOID:0111099 Fanconi anemia complementation group R,DOID:0111090 Fanconi anemia complementation group I,DOID:0111091 Fanconi anemia complementation group P,DOID:0111092 Fanconi anemia complementation group Q,DOID:0111093 Fanconi anemia complementation group N,DOID:0111094 Fanconi anemia complementation group A,DOID:0111095 Fanconi anemia complementation group O,DOID:0111096 Fanconi anemia complementation group J,DOID:0111097 partial lipodystrophy,DOID:0080299 CLOVES syndrome,DOID:0080351 embryonal rhabdomyosarcoma,DOID:3246 rhabdomyosarcoma,DOID:3247 aspiration pneumonitis,DOID:3240 mitral valve insufficiency,DOID:11502 Lafora disease,DOID:3534 Unverricht-Lundborg syndrome,DOID:3535 primary autosomal recessive microcephaly 6,DOID:0070290 primary autosomal recessive microcephaly 4,DOID:0070291 primary autosomal recessive microcephaly 9,DOID:0070292 primary autosomal recessive microcephaly 2 with or without cortical malformations,DOID:0070293 primary autosomal recessive microcephaly 10,DOID:0070294 primary autosomal dominant microcephaly 18,DOID:0070295 primary autosomal recessive microcephaly,DOID:0070296 primary microcephaly,DOID:0070297 multiple epiphyseal dysplasia 2,DOID:0070298 multiple epiphyseal dysplasia 5,DOID:0070299 Bartter disease type 5,DOID:0110147 Bartter disease type 4b,DOID:0110146 Bardet-Biedl syndrome 19,DOID:0110141 Bardet-Biedl syndrome 18,DOID:0110140 Bartter disease type 2,DOID:0110143 Bartter disease type 1,DOID:0110142 Alzheimer's disease 4,DOID:0110040 autosomal recessive nonsyndromic deafness 100,DOID:0111638 autosomal recessive nonsyndromic deafness 109,DOID:0111639 autosomal recessive nonsyndromic deafness 99,DOID:0111634 autosomal recessive nonsyndromic deafness 57,DOID:0111635 autosomal recessive nonsyndromic deafness 113,DOID:0111636 autosomal recessive nonsyndromic deafness 112,DOID:0111637 familial erythrocytosis 8,DOID:0111630 familial erythrocytosis 7,DOID:0111631 Plasmodium vivax malaria,DOID:12978 mitochondrial complex III deficiency nuclear type 9,DOID:0080118 mitochondrial DNA depletion syndrome 1,DOID:0080119 congenital nongoitrous hypothyroidism 6,DOID:0070128 autosomal recessive cutis laxa type IID,DOID:0070129 congenital nongoitrous hypothyroidism 1,DOID:0070126 congenital nongoitrous hypothyroidism 2,DOID:0070124 congenital nongoitrous hypothyroidism 5,DOID:0070125 Meckel syndrome 8,DOID:0070122 congenital nongoitrous hypothyroidism 4,DOID:0070123 Meckel syndrome 6,DOID:0070120 Meckel syndrome 7,DOID:0070121 Leber congenital amaurosis 6,DOID:0110329 hypertrophic cardiomyopathy 25,DOID:0110328 patent foramen ovale,DOID:13620 hypertrophic cardiomyopathy 17,DOID:0110323 favism,DOID:13628 hypertrophic cardiomyopathy 26,DOID:0110327 hypertrophic cardiomyopathy 20,DOID:0110326 spinocerebellar ataxia type 35,DOID:0050982 spinocerebellar ataxia type 36,DOID:0050983 B cell deficiency,DOID:2115 coccidiosis,DOID:2113 spinocerebellar ataxia type 34,DOID:0050981 spinocerebellar ataxia type 40,DOID:0050986 spinocerebellar ataxia type 37,DOID:0050984 Sertoli cell-only syndrome,DOID:0050457 essential hypertension,DOID:10825 malignant hypertension,DOID:10824 esophageal disease,DOID:6050 lymphoid leukemia,DOID:1037 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1,DOID:0111385 echinococcosis,DOID:1496 cystic echinococcosis,DOID:1495 pyridoxine deficiency anemia,DOID:8455 Crigler-Najjar syndrome,DOID:3803 chromosome 3q29 microdeletion syndrome,DOID:0060419 choline deficiency disease,DOID:8456 3p deletion syndrome,DOID:0060417 "chromosome 22q11.2 deletion syndrome, distal",DOID:0060413 chromosome 1q41-q42 deletion syndrome,DOID:0060412 chromosome 1q21.1 deletion syndrome,DOID:0060411 chromosome 1p36 deletion syndrome,DOID:0060410 hereditary nonpolyposis colorectal cancer type 5,DOID:0070272 asphyxia neonatorum,DOID:11088 X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance,DOID:0080311 hereditary nonpolyposis colorectal cancer type 7,DOID:0070276 primary autosomal recessive microcephaly 15,DOID:0070277 small cell carcinoma,DOID:0050685 cell type cancer,DOID:0050687 organ system cancer,DOID:0050686 Borjeson-Forssman-Lehmann syndrome,DOID:0050681 Boomerang dysplasia,DOID:0050680 Bothnia retinal dystrophy,DOID:0050683 hereditary nonpolyposis colorectal cancer type 4,DOID:0070275 brachydactyly-syndactyly syndrome,DOID:0050689 transient global amnesia,DOID:13027 retinopathy of prematurity,DOID:13025 epithelioid leiomyosarcoma,DOID:5264 primary autosomal recessive microcephaly 7,DOID:0070278 familial hemophagocytic lymphohistiocytosis 3,DOID:0110923 filarial elephantiasis,DOID:12211 nemaline myopathy 3,DOID:0110927 Lewy body dementia,DOID:12217 familial hemophagocytic lymphohistiocytosis 5,DOID:0110925 oligohydramnios,DOID:12215 nemaline myopathy 9,DOID:0110929 nemaline myopathy 2,DOID:0110928 cataract 45,DOID:0110262 myxoid leiomyosarcoma,DOID:5268 cataract 33,DOID:0110264 cataract 31 multiple types,DOID:0110265 spinocerebellar ataxia type 23,DOID:0050973 spinocerebellar ataxia type 21,DOID:0050972 spinocerebellar ataxia type 19/22,DOID:0050970 spinocerebellar ataxia type 28,DOID:0050977 cataract 9 multiple types,DOID:0110266 spinocerebellar ataxia type 26,DOID:0050975 cataract 44,DOID:0110267 testicular germ cell cancer,DOID:5557 myelodysplastic/myeloproliferative neoplasm,DOID:4972 myelofibrosis,DOID:4971 prosopagnosia,DOID:4970 lymphedema,DOID:4977 nephrotic syndrome type 15,DOID:0080271 autosomal dominant nonsyndromic deafness 34,DOID:0080270 polycystic kidney disease 5,DOID:0080273 nephrotic syndrome type 16,DOID:0080272 Joubert syndrome 30,DOID:0080275 multiple mitochondrial dysfunctions syndrome 5,DOID:0080274 Joubert syndrome 31,DOID:0080277 Joubert syndrome 33,DOID:0080279 Joubert syndrome 32,DOID:0080278 osteochondrosis,DOID:8125 pre-eclampsia,DOID:10591 Charcot-Marie-Tooth disease,DOID:10595 obstructive lung disease,DOID:2320 gastroenteritis,DOID:2326 internuclear ophthalmoplegia,DOID:538 ophthalmoplegia,DOID:539 thymus gland disease,DOID:533 eyelid disease,DOID:530 cerebellum cancer,DOID:4205 sleep disorder,DOID:535 dysplastic nevus syndrome,DOID:10041 Fraser syndrome 2,DOID:0111407 Fraser syndrome 3,DOID:0111406 Fraser syndrome 1,DOID:0111405 Jalili syndrome,DOID:0111404 mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations,DOID:0111403 mucopolysaccharidosis type IIID,DOID:0111402 congenital dyserythropoietic anemia type II,DOID:0111401 congenital dyserythropoietic anemia type IV,DOID:0111400 exudative vitreoretinopathy 5,DOID:0111408 rubella,DOID:8781 spermatogenic failure 11,DOID:0070180 spermatogenic failure 23,DOID:0070181 spermatogenic failure 13,DOID:0070182 pancreas disease,DOID:26 spermatogenic failure 16,DOID:0070184 endocrine system disease,DOID:28 Y-linked spermatogenic failure 2,DOID:0070187 retinitis pigmentosa 42,DOID:0110386 GABA aminotransferase deficiency,DOID:0060174 succinic semialdehyde dehydrogenase deficiency,DOID:0060175 gamma-amino butyric acid metabolism disorder,DOID:0060176 familial hypercholesterolemia,DOID:13810 generalized epilepsy with febrile seizures plus,DOID:0060170 Timothy syndrome,DOID:0060173 autosomal recessive nonsyndromic deafness 12,DOID:0110467 autosomal recessive nonsyndromic deafness 103,DOID:0110464 autosomal recessive nonsyndromic deafness 104,DOID:0110465 familial hemiplegic migraine,DOID:0060178 Renpenning syndrome,DOID:0060179 dilated cardiomyopathy 2A,DOID:0110460 X-linked dilated cardiomyopathy,DOID:0110461 Silver-Russell syndrome,DOID:14681 diastrophic dysplasia,DOID:14687 Axenfeld-Rieger syndrome,DOID:14686 microcephaly and chorioretinopathy 3,DOID:0080107 persistent generalized lymphadenopathy,DOID:0060314 orofaciodigital syndrome I,DOID:0060316 acute promyelocytic leukemia,DOID:0060318 cardiac arrest,DOID:0060319 pelvic inflammatory disease,DOID:1003 pineal gland cancer,DOID:5032 choreaacanthocytosis,DOID:0050766 Armfield syndrome,DOID:0050764 neuroacanthocytosis,DOID:0050765 adenylosuccinase lyase deficiency,DOID:0050762 ARC syndrome,DOID:0050763 X-linked myopathy with excessive autophagy,DOID:0050760 mucolipidosis,DOID:0080488 "mitochondrial complex V (ATP synthase) deficiency, nuclear type 1", lung adenocarcinoma,DOID:3910 autoimmune uveitis,DOID:0040088 sudden infant death syndrome,DOID:9007 psoriatic arthritis,DOID:9008 spondyloepiphyseal dysplasia with congenital joint dislocations,DOID:0050813 progeria,DOID:3911 Compton-North congenital myopathy,DOID:0080101 lung squamous cell carcinoma,DOID:3907 lung carcinoma,DOID:3905 gastrointestinal system disease,DOID:77 typhoid fever,DOID:13258 Lesch-Nyhan syndrome,DOID:1919 diarrhea,DOID:13250 Conn's syndrome,DOID:12028 epidermolytic hyperkeratosis,DOID:4603 neurofibrosarcoma,DOID:3512 Bardet-Biedl syndrome 7,DOID:0110129 Bardet-Biedl syndrome 6,DOID:0110128 Bardet-Biedl syndrome 1,DOID:0110123 Axenfeld-Rieger syndrome type 3,DOID:0110122 Axenfeld-Rieger syndrome type 1,DOID:0110120 Bardet-Biedl syndrome 5,DOID:0110127 Bardet-Biedl syndrome 4,DOID:0110126 Bardet-Biedl syndrome 3,DOID:0110125 Bardet-Biedl syndrome 2,DOID:0110124 neonatal diabetes,DOID:11717 gestational diabetes,DOID:11714 autosomal recessive spinocerebellar ataxia 8,DOID:0111618 combined D-2- and L-2-hydroxyglutaric aciduria,DOID:0111619 autosomal recessive spinocerebellar ataxia 23,DOID:0111613 autosomal recessive spinocerebellar ataxia 4,DOID:0111611 autosomal recessive spinocerebellar ataxia 27,DOID:0111616 autosomal recessive spinocerebellar ataxia 22,DOID:0111614 autosomal recessive spinocerebellar ataxia 24,DOID:0111615 multiple congenital anomalies-hypotonia-seizures syndrome 1,DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 2,DOID:0080139 Sengers syndrome,DOID:0080132 multiple mitochondrial dysfunctions syndrome 1,DOID:0080133 mitochondrial DNA depletion syndrome 12a,DOID:0080130 mitochondrial DNA depletion syndrome 13,DOID:0080131 multiple mitochondrial dysfunctions syndrome 4,DOID:0080136 multiple endocrine neoplasia type 4,DOID:0080137 multiple mitochondrial dysfunctions syndrome 2,DOID:0080134 multiple mitochondrial dysfunctions syndrome 3,DOID:0080135 hypotrichosis 2,DOID:0110699 hypotrichosis 1,DOID:0110698 brain cancer,DOID:1319 peroxisome biogenesis disorder 6A,DOID:0080481 pancreatic serous cystic neoplasm,DOID:3919 thyroid gland medullary carcinoma,DOID:3973 autosomal recessive cutis laxa type IIA,DOID:0070134 peroxisome biogenesis disorder 12A,DOID:0080486 schistosomiasis,DOID:1395 ocular cancer,DOID:2174 "46,XY sex reversal",DOID:14448 stomach carcinoma,DOID:5517 peroxisome biogenesis disorder 13A,DOID:0080487 epithelioid inflammatory myofibroblastic sarcoma,DOID:0080372 ectodermal dysplasia 4,DOID:0111658 carpal tunnel syndrome,DOID:12169 ectodermal dysplasia 9,DOID:0111656 ectodermal dysplasia 11B,DOID:0111654 encephalomyelitis,DOID:640 kuru,DOID:648 hypobetalipoproteinemia,DOID:1390 ectodermal dysplasia 15,DOID:0111651 hypomyelinating leukodystrophy 4,DOID:0060789 hypomyelinating leukodystrophy 10,DOID:0060788 hypomyelinating leukodystrophy 2,DOID:0060787 hypomyelinating leukodystrophy,DOID:0060786 adult-onset autosomal dominant demyelinating leukodystrophy,DOID:0060785 "ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3",DOID:0060783 EEC syndrome,DOID:0060782 congenital secretory sodium diarrhea 3,DOID:0060781 congenital diarrhea 6,DOID:0060780 lower respiratory tract disease,DOID:0050161 restrictive cardiomyopathy,DOID:397 tuberculosis,DOID:399 pemphigus,DOID:9182 partial central choroid dystrophy,DOID:9822 chromosome 22q11.2 microduplication syndrome,DOID:0060436 autosomal recessive nonsyndromic deafness 74,DOID:0110523 lysinuric protein intolerance,DOID:0060439 Cole-Carpenter syndrome,DOID:0060438 ganglioneuroma,DOID:4817 autosomal recessive nonsyndromic deafness 7,DOID:0110520 radioulnar synostosis,DOID:9827 generalized anxiety disorder,DOID:14320 autosomal dominant intellectual developmental disorder 47,DOID:0080238 "blepharophimosis, ptosis, and epicanthus inversus syndrome",DOID:14778 Marfan syndrome,DOID:14323 brittle cornea syndrome 1,DOID:14775 cartilage-hair hypoplasia,DOID:14773 inflammatory bowel disease 25,DOID:0110909 carotid stenosis,DOID:13001 primary biliary cholangitis,DOID:12236 Waardenburg's syndrome, frontotemporal dementia,DOID:9255 mast-cell leukemia,DOID:9254 colorectal cancer,DOID:9256 acrocallosal syndrome,DOID:9250 gastrointestinal stromal tumor,DOID:9253 amino acid metabolic disorder,DOID:9252 autosomal dominant intellectual developmental disorder 48,DOID:0080235 Clark-Baraitser syndrome,DOID:0080234 Miura type epiphyseal chondrodysplasia,DOID:0070316 VIPoma,DOID:5574 autosomal dominant intellectual developmental disorder 52,DOID:0080231 gastrinoma,DOID:5577 Beckwith-Wiedemann syndrome,DOID:5572 autosomal dominant intellectual developmental disorder 54,DOID:0080230 atrial fibrillation,DOID:0060224 3MC syndrome,DOID:0060225 isolated microphthalmia 2,DOID:0060839 optic nerve glioma,DOID:4992 Camurati-Engelmann disease,DOID:4997 trichorhinophalangeal syndrome type II,DOID:4998 Scheie syndrome,DOID:0060222 agraphia,DOID:0060223 Parkinson's disease 20,DOID:0060898 late onset Parkinson's disease,DOID:0060892 Parkinson's disease 19A,DOID:0060891 ectopic Cushing syndrome,DOID:0060890 Parkinson's disease 17,DOID:0060897 Parkinson's disease 23,DOID:0060896 Parkinson's disease 4,DOID:0060895 early-onset Parkinson's disease,DOID:0060894 "deafness-intellectual disability, Martin-Probst type syndrome",DOID:0060830 autosomal dominant intellectual developmental disorder 45,DOID:0080236 parasitic helminthiasis infectious disease,DOID:883 hyperglycemia,DOID:4195 glucose metabolism disease,DOID:4194 oculopharyngeal muscular dystrophy,DOID:11719 Griscelli syndrome type 3,DOID:0060834 spinocerebellar ataxia type 8,DOID:0050959 spinocerebellar ataxia type 7,DOID:0050958 hereditary ataxia,DOID:0050951 autosomal recessive cerebellar ataxia,DOID:0050950 X-linked hereditary ataxia,DOID:0050953 spastic ataxia,DOID:0050952 prediabetes syndrome,DOID:11716 spinocerebellar ataxia type 1,DOID:0050954 spinocerebellar ataxia type 4,DOID:0050957 spinocerebellar ataxia type 6,DOID:0050956 rosacea,DOID:8881 arteriosclerotic cardiovascular disease,DOID:2348 arteriosclerosis,DOID:2349 craniosynostosis,DOID:2340 endometrial stromal sarcoma,DOID:4226 pyoderma,DOID:4223 essential tremor 1,DOID:0111428 branchiootorenal syndrome 2,DOID:0111424 restrictive cardiomyopathy 3,DOID:0111427 familial GPIHBP1 deficiency,DOID:0111420 branchiootorenal syndrome 1,DOID:0111423 familial lipase maturation factor 1 deficiency,DOID:0111422 squamous cell neoplasm,DOID:3168 malignant spindle cell melanoma,DOID:3162 skin benign neoplasm,DOID:3165 diabetic angiopathy,DOID:11713 thyroid crisis,DOID:12837 quadriplegia,DOID:12835 tetanus,DOID:11338 pneumocystosis,DOID:11339 sarcoidosis,DOID:11335 erysipelas,DOID:11330 diabetic polyneuropathy,DOID:12785 migraine without aura,DOID:12783 microcytic anemia,DOID:11252 typhus,DOID:11256 follicular dendritic cell sarcoma,DOID:6262 subcorneal pustular dermatosis,DOID:8508 bullous skin disease,DOID:8502 acquired metabolic disease,DOID:0060158 organic acidemia,DOID:0060159 autosomal recessive nonsyndromic deafness 3,DOID:0110488 autosomal recessive nonsyndromic deafness 30,DOID:0110489 impetigo,DOID:8504 dermatitis herpetiformis,DOID:8505 salivary gland cancer,DOID:8850 chronic atrial and intestinal dysrhythmia,DOID:0060339 3-methylglutaconic aciduria,DOID:0060336 CEDNIK syndrome,DOID:0060337 transient neonatal diabetes mellitus,DOID:0060334 autosomal dominant sideroblastic anemia 4,DOID:0060335 mitochondrial complex V (ATP synthase) deficiency nuclear type 3,DOID:0060332 mitochondrial complex V (ATP synthase) deficiency nuclear type 4,DOID:0060333 Rapp-Hodgkin syndrome,DOID:0060330 mitochondrial complex V (ATP synthase) deficiency nuclear type 2,DOID:0060331 proximal symphalangism,DOID:0050788 thyroid adenoma,DOID:2891 neuronal ceroid lipofuscinosis 3,DOID:0110731 primary progressive multiple sclerosis,DOID:0050784 fibrolamellar carcinoma,DOID:5015 open-angle glaucoma,DOID:1067 cystinosis,DOID:1064 Fanconi syndrome,DOID:1062 Hartnup disease,DOID:1060 juvenile polyposis syndrome,DOID:0050787 pulmonary blastoma,DOID:4765 Opitz-GBBB syndrome, pleuropulmonary blastoma,DOID:4769 Zollinger-Ellison syndrome,DOID:0050782 enterocele,DOID:1283 neurodegenerative disease,DOID:1289 leishmaniasis,DOID:9065 Ritter's disease,DOID:9063 orofaciodigital syndrome,DOID:4501 Tangier disease,DOID:1388 Hermansky-Pudlak syndrome,DOID:3753 protein C deficiency,DOID:3756 antithrombin III deficiency,DOID:3755 Laurence-Moon syndrome,DOID:1930 cutaneous porphyria,DOID:13271 erythropoietic protoporphyria,DOID:13270 dysostosis,DOID:1934 atherosclerosis,DOID:1936 thymic carcinoma,DOID:3284 diabetic cataract,DOID:13328 congenital disorder of glycosylation type IIb,DOID:0070254 congenital disorder of glycosylation type IIc,DOID:0070255 congenital disorder of glycosylation type IId,DOID:0070256 GM1 gangliosidosis type 3,DOID:0080489 cold-induced sweating syndrome 2,DOID:0080330 X-linked Emery-Dreifuss muscular dystrophy 6,DOID:0070251 bicuspid aortic valve disease,DOID:0080332 aortic valve disease 1,DOID:0080333 peroxisome biogenesis disorder 7A,DOID:0080482 peroxisome biogenesis disorder 8A,DOID:0080483 peroxisome biogenesis disorder 5A,DOID:0080480 congenital disorder of glycosylation type IIf,DOID:0070258 congenital disorder of glycosylation type IIg,DOID:0070259 peroxisome biogenesis disorder 10A,DOID:0080484 peroxisome biogenesis disorder 11A,DOID:0080485 atrial heart septal defect 2,DOID:0110107 atrial heart septal defect 4,DOID:0110109 atrial heart septal defect 3,DOID:0110108 congenital nystagmus,DOID:9649 primary hyperoxaluria type 1,DOID:0111670 primary hyperoxaluria type 2,DOID:0111671 primary hyperoxaluria type 3,DOID:0111672 Saul-Wilson syndrome,DOID:0111673 intellectual developmental disorder with short stature and behavioral abnormalities,DOID:0111674 high molecular weight kininogen deficiency,DOID:0111676 familial benign fleck retina,DOID:0111677 hereditary folate malabsorption,DOID:0111678 glutamate formiminotransferase deficiency,DOID:0111679 adrenocorticotropic hormone deficiency,DOID:0080150 medium chain acyl-CoA dehydrogenase deficiency,DOID:0080153 very long chain acyl-CoA dehydrogenase deficiency,DOID:0080155 X-linked adrenal hypoplasia congenita,DOID:0080156 Cryptococcal meningitis,DOID:0080159 ovarian dysgenesis 5,DOID:0080497 phosphorus metabolism disease,DOID:2485 ovary epithelial cancer,DOID:2152 malignant ovarian surface epithelial-stromal neoplasm,DOID:2151 ovarian germ cell cancer,DOID:2156 onchocerciasis,DOID:11678 brachydactyly type E2,DOID:0110976 tooth and nail syndrome,DOID:6678 autosomal recessive spinocerebellar ataxia 18,DOID:0080042 abducens nerve palsy,DOID:10865 partial third-nerve palsy,DOID:10864 endocarditis,DOID:10314 adrenal cortex cancer,DOID:660 Klippel-Feil syndrome 4,DOID:0080592 myositis ossificans,DOID:668 orofacial cleft 6,DOID:0080593 hyper IgE recurrent infection syndrome 2,DOID:0080594 hyper IgE recurrent infection syndrome 3,DOID:0080595 hyper IgE recurrent infection syndrome 4,DOID:0080596 Kleefstra syndrome,DOID:0080597 persistent fetal circulation syndrome,DOID:13042 Coronavirus infectious disease,DOID:0080599 Reis-Bucklers corneal dystrophy,DOID:0060453 Meesmann corneal dystrophy,DOID:0060451 posterior polymorphous corneal dystrophy,DOID:0060457 Schnyder corneal dystrophy,DOID:0060456 Thiel-Behnke corneal dystrophy,DOID:0060455 subepithelial mucinous corneal dystrophy,DOID:0060454 chromosome 3q29 microduplication syndrome,DOID:0060459 demyelinating polyneuropathy,DOID:5214 ovarian hyperstimulation syndrome,DOID:5425 renal osteodystrophy,DOID:13068 cerebral cavernous malformation 1,DOID:0080491 neurodegeneration with brain iron accumulation 2a,DOID:0110735 parathyroid carcinoma,DOID:1540 head and neck carcinoma,DOID:1542 dilated cardiomyopathy 1AA,DOID:0110428 hemophilia B,DOID:12259 citrullinemia,DOID:9273 ornithine carbamoyltransferase deficiency,DOID:9271 alkaptonuria,DOID:9270 tyrosinemia,DOID:9275 hyperlysinemia,DOID:9274 hyperhomocysteinemia,DOID:9279 hyperargininemia,DOID:9278 nervous system disease,DOID:863 vasculitis,DOID:865 vein disease,DOID:866 cholesteatoma,DOID:869 restless legs syndrome,DOID:0050425 familial adenomatous polyposis,DOID:0050424 xeroderma pigmentosum,DOID:0050427 Stevens-Johnson syndrome,DOID:0050426 Hailey-Hailey disease,DOID:0050429 nonepidermolytic palmoplantar keratoderma,DOID:0050428 West Nile encephalitis,DOID:2365 neuroaxonal dystrophy,DOID:2367 macrocytic anemia,DOID:2361 cranial nerve malignant neoplasm,DOID:2815 gangliosidosis,DOID:2368 coronary restenosis,DOID:4247 kidney sarcoma,DOID:4242 Gerstmann-Straussler-Scheinker syndrome,DOID:4249 coronary stenosis,DOID:4248 progressive myoclonus epilepsy 6,DOID:0111449 progressive myoclonus epilepsy 1B,DOID:0111448 optic atrophy 9,DOID:0111442 optic atrophy 1,DOID:0111441 progressive myoclonus epilepsy 7,DOID:0111447 progressive myoclonus epilepsy 3,DOID:0111446 progressive myoclonus epilepsy 10,DOID:0111445 progressive myoclonus epilepsy 4,DOID:0111444 Perlman syndrome,DOID:0060476 hyperlipoproteinemia type III,DOID:3145 cutis laxa,DOID:3144 larynx cancer,DOID:2596 aortic valve disease,DOID:62 mitral valve disease,DOID:61 muscle tissue disease,DOID:66 connective tissue disease,DOID:65 bladder diverticulum,DOID:11353 autosomal dominant intellectual developmental disorder 39,DOID:0070069 autosomal dominant intellectual developmental disorder 38,DOID:0070068 White-Sutton syndrome,DOID:0070067 autosomal dominant intellectual developmental disorder 36,DOID:0070066 autosomal dominant intellectual developmental disorder 35,DOID:0070065 autosomal dominant intellectual developmental disorder 34,DOID:0070064 autosomal dominant intellectual developmental disorder 33,DOID:0070063 Arboleda-Tham syndrome,DOID:0070062 autosomal dominant intellectual developmental disorder 31,DOID:0070061 autosomal dominant intellectual developmental disorder 30,DOID:0070060 congenital stationary night blindness 1G,DOID:0110714 congenital stationary night blindness autosomal dominant 3,DOID:0110715 Warburg micro syndrome 1,DOID:0110716 Warburg micro syndrome 2,DOID:0110717 hypotrichosis 13,DOID:0110710 congenital hypotrichosis with juvenile macular dystrophy,DOID:0110711 Oguchi disease-1,DOID:0110712 Oguchi disease-2,DOID:0110713 Warburg micro syndrome 3,DOID:0110718 Warburg micro syndrome 4,DOID:0110719 apraxia,DOID:0060135 monocytic leukemia,DOID:8527 autosomal dominant nocturnal frontal lobe epilepsy 5,DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 3,DOID:0060684 autosomal dominant nocturnal frontal lobe epilepsy 4,DOID:0060685 autosomal dominant nocturnal frontal lobe epilepsy 1,DOID:0060682 autosomal dominant nocturnal frontal lobe epilepsy,DOID:0060681 arteriovenous malformations of the brain,DOID:0060688 atrichia with papular lesions,DOID:0060689 liver cancer,DOID:3571 cystathioninuria,DOID:0090142 brachyolmia-amelogenesis imperfecta syndrome,DOID:0090143 cortisone reductase deficiency 2,DOID:0090140 cortisone reductase deficiency 1,DOID:0090141 Donnai-Barrow syndrome,DOID:0090144 dopamine beta-hydroxylase deficiency,DOID:0090145 tongue squamous cell carcinoma,DOID:0050865 cryptosporidiosis,DOID:1733 chronic lymphocytic leukemia,DOID:1040 duodenal benign neoplasm,DOID:1737 fasciitis,DOID:9598 intestinal disease,DOID:5295 Marshall-Smith syndrome,DOID:0050858 Muckle-Wells syndrome,DOID:0050854 renal fibrosis,DOID:0050855 oppositional defiant disorder,DOID:0050856 Perrault syndrome,DOID:0050857 diabetic encephalopathy,DOID:0050850 glomerulosclerosis,DOID:0050851 fibrosarcoma,DOID:3355 variant Creutzfeldt-Jakob disease,DOID:5435 scrapie,DOID:5434 cervix endometrial stromal tumor,DOID:4521 solitary median maxillary central incisor,DOID:0111380 IVIC syndrome,DOID:0111381 ischiocoxopodopatellar syndrome,DOID:0111382 autosomal dominant keratitis,DOID:0111383 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3,DOID:0111386 familial isolated hypoparathyroidism,DOID:0111387 mucopolysaccharidosis Ih/s,DOID:0111389 glucocorticoid-remediable aldosteronism,DOID:14080 porokeratosis,DOID:3805 neurodevelopmental disorder with midbrain and hindbrain malformations,DOID:0080312 hereditary nonpolyposis colorectal cancer type 6,DOID:0070273 hereditary nonpolyposis colorectal cancer type 8,DOID:0070270 Lynch syndrome 1,DOID:0070271 megalencephalic leukoencephalopathy with subcortical cysts 1,DOID:0080316 megalencephalic leukoencephalopathy with subcortical cysts 2B,DOID:0080317 cone-rod dystrophy 14,DOID:0080314 megalencephalic leukoencephalopathy with subcortical cysts,DOID:0080315 megalencephalic leukoencephalopathy with subcortical cysts 2A,DOID:0080318 "X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia",DOID:0080319 karyomegalic interstitial nephritis,DOID:0060911 amelogenesis imperfecta type 1C,DOID:0110056 primary ovarian insufficiency,DOID:5426 corneal ulcer,DOID:8463 retinoschisis,DOID:8465 spermatogenic failure 1,DOID:0070188 mucositis,DOID:0080178 meningococcal meningitis,DOID:0080176 hepatic veno-occlusive disease,DOID:0080177 bladder exstrophy,DOID:0080174 retinal degeneration,DOID:8466 thiopurine S-methyltransferase deficiency,DOID:0080172 normophosphatemic familial tumoral calcinosis,DOID:0080170 von Willebrand's disease 3,DOID:0111054 retinitis pigmentosa 73,DOID:0110389 retinitis pigmentosa 10,DOID:0110388 platelet-type bleeding disorder 20,DOID:0111055 retinitis pigmentosa 7,DOID:0110383 retinitis pigmentosa 48,DOID:0110382 retinitis pigmentosa 14,DOID:0110381 retinitis pigmentosa 62,DOID:0110380 retinitis pigmentosa 9,DOID:0110387 platelet-type bleeding disorder 3,DOID:0111056 retinitis pigmentosa 25,DOID:0110384 platelet-type bleeding disorder 11,DOID:0111057 Quebec platelet disorder,DOID:0111050 platelet-type bleeding disorder 18,DOID:0111051 Scott syndrome,DOID:0111052 platelet-type bleeding disorder 15,DOID:0111053 anorexia nervosa,DOID:8689 retinal edema,DOID:6929 acoustic neuroma,DOID:12689 chondroma,DOID:2602 laryngeal carcinoma,DOID:2600 mucosulfatidosis,DOID:0050441 focal segmental glomerulosclerosis 1,DOID:0111128 focal segmental glomerulosclerosis 2,DOID:0111129 congenital myasthenic syndrome 13,DOID:0110676 nephronophthisis 16,DOID:0111124 nephronophthisis 18,DOID:0111125 nephronophthisis 19,DOID:0111126 nephronophthisis 20,DOID:0111127 nephronophthisis 9,DOID:0111120 nephronophthisis 13,DOID:0111121 nephronophthisis 14,DOID:0111122 nephronophthisis 15,DOID:0111123 childhood brain stem glioma,DOID:6383 autosomal recessive nonsyndromic deafness 84A,DOID:0110529 autosomal recessive nonsyndromic deafness 8,DOID:0110527 autosomal recessive nonsyndromic deafness 79,DOID:0110526 autosomal recessive nonsyndromic deafness 77,DOID:0110525 autosomal recessive nonsyndromic deafness 76,DOID:0110524 sideroblastic anemia,DOID:8955 autosomal recessive nonsyndromic deafness 70,DOID:0110521 congenital myasthenic syndrome 6,DOID:0110671 paraplegia,DOID:607 hemolytic anemia,DOID:583 hepatitis E,DOID:4411 urethra cancer,DOID:734 congenital dyserythropoietic anemia type Ib,DOID:0111397 congenital dyserythropoietic anemia type I,DOID:0111396 urethral benign neoplasm,DOID:730 urinary system benign neoplasm,DOID:731 congenital disorder of glycosylation type IIm,DOID:0070265 congenital dyserythropoietic anemia type III,DOID:0111399 polyneuropathy,DOID:1389 congenital dyserythropoietic anemia type Ia,DOID:0111398 sweat gland disease,DOID:1383 congenital disorder of glycosylation type IIi,DOID:0070261 endometrial cancer,DOID:1380 hypolipoproteinemia,DOID:1387 abetalipoproteinemia,DOID:1386 congenital disorder of glycosylation type IIh,DOID:0070260 congenital disorder of glycosylation type IIk,DOID:0070263 disease of cellular proliferation,DOID:14566 ankyloglossia,DOID:0060604 fucosidosis,DOID:14500 Sjogren-Larsson syndrome,DOID:14501 cholesterol ester storage disease,DOID:14502 neuronal ceroid lipofuscinosis,DOID:14503 Niemann-Pick disease,DOID:14504 uveal melanoma,DOID:6039 autosomal recessive chronic granulomatous disease 4,DOID:0070193 juvenile type testicular granulosa cell tumor,DOID:6032 T-cell adult acute lymphocytic leukemia,DOID:5602 T-cell acute lymphoblastic leukemia,DOID:5603 adult acute lymphocytic leukemia,DOID:5604 dental pulp calcification,DOID:5608 fungal infectious disease,DOID:1564 cognitive disorder,DOID:1561 coloboma,DOID:12270 aniridia,DOID:12271 anisometropia,DOID:12273 developmental coordination disorder,DOID:9923 chronic inflammatory demyelinating polyradiculoneuropathy,DOID:5213 congenital disorder of glycosylation,DOID:5212 cataract 23,DOID:0110271 Shwachman-Diamond syndrome,DOID:0060479 autosomal recessive chronic granulomatous disease 2,DOID:0070191 salt and pepper syndrome,DOID:0060470 Kabuki syndrome,DOID:0060473 Kindler syndrome,DOID:0060472 myoclonic-atonic epilepsy,DOID:0060475 familial erythrocytosis 2,DOID:0060474 autosomal recessive limb-girdle muscular dystrophy type 2B,DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2A,DOID:0110275 Loeys-Dietz syndrome 3,DOID:0070237 cutaneous fibrous histiocytoma,DOID:4418 biliary tract benign neoplasm,DOID:0050625 gastrointestinal system benign neoplasm,DOID:0050624 reproductive organ benign neoplasm,DOID:0050622 Aicardi-Goutieres syndrome,DOID:0050629 advanced sleep phase syndrome,DOID:0050628 viral pneumonia,DOID:10533 Loeys-Dietz syndrome 1,DOID:0070235 stomach cancer,DOID:10534 gastric fundus cancer,DOID:10538 arthritis,DOID:848 autosomal recessive spinocerebellar ataxia 10,DOID:0050999 nonprogressive cerebellar ataxia with mental retardation,DOID:0050998 episodic ataxia type 6,DOID:0050994 "cerebellar ataxia, mental retardation and dysequlibrium syndrome",DOID:0050997 episodic ataxia type 2,DOID:0050990 episodic ataxia type 5,DOID:0050993 benign recurrent intrahepatic cholestasis 2,DOID:0070232 familial partial lipodystrophy,DOID:0050440 X-linked dominant hypophosphatemic rickets,DOID:0050445 infantile Refsum disease,DOID:0050444 pachyonychia congenita,DOID:0050449 white sponge nevus,DOID:0050448 panic disorder,DOID:594 gait apraxia,DOID:4260 akinetic mutism,DOID:4267 agoraphobia,DOID:593 Loeys-Dietz syndrome 4,DOID:0070233 hyperinsulinemic hypoglycemia,DOID:13317 cardiofaciocutaneous syndrome 2,DOID:0111461 cardiofaciocutaneous syndrome 1,DOID:0111460 cardiofaciocutaneous syndrome 4,DOID:0111463 cardiofaciocutaneous syndrome 3,DOID:0111462 combined oxidative phosphorylation deficiency 21,DOID:0111465 combined oxidative phosphorylation deficiency 35,DOID:0111464 combined oxidative phosphorylation deficiency 13,DOID:0111467 combined oxidative phosphorylation deficiency 38,DOID:0111466 combined oxidative phosphorylation deficiency 16,DOID:0111469 combined oxidative phosphorylation deficiency 25,DOID:0111468 mitochondrial DNA depletion syndrome 14,DOID:0080336 benign recurrent intrahepatic cholestasis,DOID:0070230 congenital fibrosis of the extraocular muscles 1,DOID:0081015 congenital fibrosis of the extraocular muscles 5,DOID:0081020 severe COVID-19,DOID:0081013 congenital fibrosis of the extraocular muscles 3A,DOID:0081017 Tukel syndrome,DOID:0081021 critical COVID-19,DOID:0081012 congenital fibrosis of the extraocular muscles 2,DOID:0081016 syndromic microphthalmia 13,DOID:0111811 atrial standstill 1,DOID:0080662 atrial standstill 2,DOID:0080663 nonsyndromic aplasia cutis congenita,DOID:0080661 warfarin sensitivity,DOID:0080666 diaphyseal medullary stenosis with malignant fibrous histiocytoma,DOID:0080664 warfarin resistance,DOID:0080665 congenital nystagmus 6,DOID:0111795 congenital nystagmus 1,DOID:0111790 syndromic microphthalmia 1,DOID:0111799 X-linked nephrolithiasis type I,DOID:0111798 syndromic microphthalmia 2,DOID:0111809 linear skin defects with multiple congenital anomalies 1,DOID:0111808 syndromic microphthalmia 14,DOID:0111802 syndromic microphthalmia 3,DOID:0111801 syndromic microphthalmia 12,DOID:0111800 syndromic microphthalmia 9,DOID:0111807 syndromic microphthalmia 5,DOID:0111806 syndromic microphthalmia 6,DOID:0111805 syndromic microphthalmia 11,DOID:0111804 congenital nongoitrous hypothyroidism 7,DOID:0111836 congenital nongoitrous hypothyroidism 8,DOID:0111837 X-linked reticulate pigmentary disorder,DOID:0111834 congenital nongoitrous hypothyroidism 9,DOID:0111835 syndactyly type 8,DOID:0111813 methylmalonic acidemia and homocysteinemia cblX type,DOID:0111814 low molecular weight proteinuria with hypercalciuric nephrocalcinosis,DOID:0111815 Basilicata-Akhtar syndrome,DOID:0111838 syndactyly type 3,DOID:0111817 primary ciliary dyskinesia 39,DOID:0111854 primary ciliary dyskinesia 42,DOID:0111855 primary ciliary dyskinesia 43,DOID:0111856 primary ciliary dyskinesia 45,DOID:0111857 primary ciliary dyskinesia 36,DOID:0111850 primary ciliary dyskinesia 44,DOID:0111851 primary ciliary dyskinesia 38,DOID:0111852 primary ciliary dyskinesia 40,DOID:0111853 primary ciliary dyskinesia 41,DOID:0111858 syndactyly type 4,DOID:0111818 syndactyly type 5,DOID:0111819 ichthyosis follicularis-alopecia-photophobia syndrome 1,DOID:0111821 CHILD syndrome,DOID:0111822 Aarskog syndrome,DOID:0111824 X-linked spinal muscular atrophy 2,DOID:0111827 Abruzzo-Erickson syndrome,DOID:0111826 X-linked spinocerebellar ataxia 1,DOID:0111829 osteogenesis imperfecta type 19,DOID:0111847 X-linked congenital hemolytic anemia,DOID:0111846 Mullegama-Klein-Martinez syndrome,DOID:0111845 X-linked intellectual developmental disorder 108,DOID:0111844 Paganini-Miozzo syndrome,DOID:0111843 Shukla-Vernon syndrome,DOID:0111841 Van Esch-O'Driscoll syndrome,DOID:0111840 congenital disorder of glycosylation Icc,DOID:0111839 osteogenesis imperfecta type 20,DOID:0111849 osteogenesis imperfecta type 18,DOID:0111848 Keipert syndrome,DOID:0111842 nonphotosensitive trichothiodystrophy 6,DOID:0111872 photosensitive trichothiodystrophy 1,DOID:0111873 nonphotosensitive trichothiodystrophy 7,DOID:0111870 photosensitive trichothiodystrophy 3,DOID:0111871 linear skin defects with multiple congenital anomalies 3,DOID:0111876 linear skin defects with multiple congenital anomalies 2,DOID:0111877 MLS syndrome,DOID:0111875 Diamond-Blackfan anemia 7,DOID:0111878 Diamond-Blackfan anemia 6,DOID:0111879 "midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis",DOID:0111859 multiple endocrine neoplasia,DOID:3125 Diamond-Blackfan anemia 20,DOID:0111891 Diamond-Blackfan anemia 11,DOID:0111892 Diamond-Blackfan anemia 16,DOID:0111893 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis,DOID:0111894 Diamond-Blackfan anemia 1,DOID:0111895 Diamond-Blackfan anemia 18,DOID:0111896 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis,DOID:0111897 Noonan syndrome-like disorder with loose anagen hair 2,DOID:0080693 Noonan syndrome-like disorder with loose anagen hair 1,DOID:0080692 RASopathy,DOID:0080690 Burn-McKeown syndrome,DOID:0080695 Galloway-Mowat syndrome,DOID:0080694 Diamond-Blackfan anemia 4,DOID:0111890 photosensitive trichothiodystrophy 2,DOID:0111869 nonphotosensitive trichothiodystrophy 5,DOID:0111868 MEND syndrome,DOID:0111865 autosomal recessive congenital bilateral absence of vas deferens,DOID:0111864 nonphotosensitive trichothiodystrophy,DOID:0111867 trichothiodystrophy,DOID:0111866 Meester-Loeys syndrome,DOID:0111861 AMME complex,DOID:0111860 X-linked congenital bilateral absence of vas deferens,DOID:0111863 congenital bilateral absence of vas deferens,DOID:0111862 Stickler syndrome 2,DOID:0080675 "otospondylomegaepiphyseal dysplasia, autosomal dominant",DOID:0080677 Stickler syndrome 1,DOID:0080676 Meesmann corneal dystrophy 2,DOID:0080671 Meesmann corneal dystrophy 1,DOID:0080670 fibrochondrogenesis 2,DOID:0080673 fibrochondrogenesis 1,DOID:0080672 neuronal intestinal dysplasia type A,DOID:0080679 mucolipidosis III gamma,DOID:0080678 Diamond-Blackfan anemia 5,DOID:0111883 Diamond-Blackfan anemia 12,DOID:0111882 Diamond-Blackfan anemia 8,DOID:0111881 Diamond-Blackfan anemia 17,DOID:0111880 Diamond-blackfan anemia 3,DOID:0111887 Diamond-Blackfan anemia 19,DOID:0111886 Diamond-Blackfan anemia 9,DOID:0111884 Diamond-Blackfan anemia 13,DOID:0111889 Diamond-Blackfan anemia 10,DOID:0111888 mosaic variegated aneuploidy syndrome,DOID:0080688 mosaic variegated aneuploidy syndrome 3,DOID:0080689 posterior polymorphous corneal dystrophy 4,DOID:0080669 X-linked chronic idiopathic intestinal pseudo-obstruction,DOID:0080681 nonsyndromic congenital nail disorder,DOID:0080683 "diffuse midline glioma, H3 K27M-mutant",DOID:0080684 aortic dissection,DOID:0080685 tubular aggregate myopathy 2,DOID:0080686 reducing body myopathy 1B,DOID:0080687 primary hypoalphalipoproteinemia 2,DOID:0080958 aortic valve disease 3,DOID:0080977 amelogenesis imperfecta type 1J,DOID:0080953 anauxetic dysplasia,DOID:0080942 "agenesis of corpus callosum, cardiac, ocular, and genital syndrome",DOID:0080948 AMED syndrome,DOID:0080952 Ehlers-Danlos syndrome periodontal type 2,DOID:0080987 arthrogryposis multiplex congenita-1,DOID:0080978 anauxetic dysplasia 2,DOID:0080962 King Denborough syndrome,DOID:0080990 intracranial berry aneurysm 12,DOID:0080975 anauxetic dysplasia 3,DOID:0080963 retinal dystrophy with leukodystrophy,DOID:0080946 congenital myopathy 1B,DOID:0080991 Ehlers-Danlos syndrome periodontal type 1,DOID:0080986 arthrogryposis multiplex congenita-4,DOID:0080980 central precocious puberty 1,DOID:0112310 abdominal obesity-metabolic syndrome 4,DOID:0080945 hereditary angioedema type I,DOID:0080939 "46,XX sex reversal 5",DOID:0080943 pretibial dystrophic epidermolysis bullosa,DOID:0080988 central precocious puberty 2,DOID:0112309 syndromic X-linked intellectual disorder Lujan-Fryns-type,DOID:0080985 primary hypoalphalipoproteinemia 1,DOID:0080957 arrhythmogenic right ventricular dysplasia 14,DOID:0080959 arthrogryposis multiplex congenita-3,DOID:0080979 hereditary angioedema type III,DOID:0080940 arthrogryposis multiplex congenita-5,DOID:0080981 amelogenesis imperfecta type 2A6,DOID:0080960 X-linked intellectual developmental disorder 109,DOID:0080984 central precocious puberty,DOID:0112308 alopecia-mental retardation syndrome 4,DOID:0080950 acquired angioedema,DOID:0080941 familial Behcet-like autoinflammatory syndrome,DOID:0080944 Bardet-Biedl syndrome 20,DOID:0081009 RNASET2-deficient cystic leukoencephalopathy,DOID:0081007 Bardet-Biedl syndrome 22,DOID:0081011 Bardet-Biedl syndrome 21,DOID:0081010 intellectual developmental disorder with cardiac arrhythmia,DOID:0081008 brain small vessel disease 2,DOID:0112314 male infertility due to globozoospermia,DOID:0112312 "alacrima, achalasia, and impaired intellectual development syndrome",DOID:0112321 Kanzaki disease,DOID:0112319 brain small vessel disease 3,DOID:0112315 male infertility due to acephalic spermatozoa,DOID:0112311 Schindler disease,DOID:0112317 methemoglobinemia and ambiguous genitalia,DOID:0112316 Schindler disease type 1,DOID:0112318 brain small vessel disease,DOID:0112313 glutathione synthetase deficiency,DOID:0080699 spermatogenic failure 25,DOID:0111920 Cowden syndrome 7,DOID:0081003 Cowden syndrome 5,DOID:0081001 autoimmune epilepsy,DOID:0080994 Cowden syndrome 6,DOID:0081002 Cowden syndrome 4,DOID:0081000 autosomal recessive thrombophilia due to protein C deficiency,DOID:0111904 spermatogenic failure 36,DOID:0111921 Opitz GBBB syndrome,DOID:0080697 thrombophilia due to thrombin defect,DOID:0111907 spermatogenic failure,DOID:0111910 spermatogenic failure 30,DOID:0111913 Winchester syndrome,DOID:0080696 thrombophilia due to thrombomodulin defect,DOID:0111908 spermatogenic failure 32,DOID:0111925 thrombophilia due to activated protein C resistance,DOID:0111902 spermatogenic failure 31,DOID:0111922 caudal regression syndrome,DOID:0080700 Teebi hypertelorism syndrome 1,DOID:0080698 spermatogenic failure 24,DOID:0111929 thrombophilia due to HRG deficiency,DOID:0111903 spermatogenic failure 29,DOID:0111930 spermatogenic failure 28,DOID:0111916 spermatogenic failure 39,DOID:0111926 spermatogenic failure 37,DOID:0111927 spermatogenic failure 35,DOID:0111914 spermatogenic failure 26,DOID:0111924 X-linked thrombophilia due to factor IX defect,DOID:0111899 immunodeficiency 23,DOID:0111953 heparin cofactor II deficiency,DOID:0111901 CK syndrome,DOID:0111898 spermatogenic failure 40,DOID:0111918 spermatogenic failure 42,DOID:0111923 spermatogenic failure 33,DOID:0111915 Fanconi renotubular syndrome 5,DOID:0080761 Fanconi renotubular syndrome 4,DOID:0080760 spermatogenic failure 27,DOID:0111928 spermatogenic failure 38,DOID:0111919 immunodeficiency 28,DOID:0111995 immunodeficiency 45,DOID:0111994 immunodeficiency 63,DOID:0111997 immunodeficiency 51,DOID:0111996 immunodeficiency 62,DOID:0111991 immunodeficiency 30,DOID:0111990 immunodeficiency 55,DOID:0111993 immunodeficiency 53,DOID:0111992 immunodeficiency 61,DOID:0111999 immunodeficiency 66,DOID:0111998 immunodeficiency 41,DOID:0111968 immunodeficiency 39,DOID:0111969 autosomal dominant thrombophilia due to protein S deficiency,DOID:0111900 immunodeficiency 15A,DOID:0111960 immunodeficiency 26,DOID:0111961 congenital myopathy 6,DOID:0080719 combined immunodeficiency,DOID:0111962 immunodeficiency 29,DOID:0111950 brittle cornea syndrome 2,DOID:0080729 immunodeficiency 11B,DOID:0111958 GNE myopathy,DOID:0080718 immunodeficiency 27B,DOID:0111956 immunodeficiency 54,DOID:0111967 calvarial doughnut lesions with bone fragility,DOID:0080721 Fanconi renotubular syndrome 2,DOID:0080758 immunodeficiency 37,DOID:0111939 Fanconi renotubular syndrome 3,DOID:0080759 keratosis follicularis spinulosa decalvans,DOID:0080753 erythema nodosum,DOID:0080750 prothrombin thrombophilia,DOID:0080701 immunodeficiency 48,DOID:0111943 immunodeficiency 43,DOID:0111981 T cell and NK cell immunodeficiency,DOID:0080710 keratosis pilaris atrophicans,DOID:0080751 immunodeficiency 71,DOID:0112004 immunodeficiency 24,DOID:0111938 Fanconi renotubular syndrome 1,DOID:0080757 autosomal dominant thrombophilia due to protein C deficiency,DOID:0111909 X-linked keratosis follicularis spinulosa decalvans,DOID:0080754 growth hormone secreting pituitary adenoma 2,DOID:0112007 spermatogenic failure 43,DOID:0111917 Ehlers-Danlos syndrome dermatosparaxis type,DOID:0080733 mutilating palmoplantar keratoderma with periorificial keratotic plaques,DOID:0112011 immunodeficiency 69,DOID:0112006 Ehlers-Danlos syndrome musculocontractural type 2,DOID:0080737 immunodeficiency 42,DOID:0111940 immunodeficiency 25,DOID:0111942 autosomal recessive thrombophilia due to protein S deficiency,DOID:0111905 immunodeficiency 33,DOID:0112003 pituitary adenoma 3,DOID:0112010 immunodeficiency 21,DOID:0111947 autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques,DOID:0112013 pituitary adenoma 5,DOID:0112008 immunodeficiency 12,DOID:0111988 immunodeficiency 64,DOID:0111980 immunodeficiency 34,DOID:0112000 immunodeficiency 27A,DOID:0111955 hereditary diffuse gastric cancer,DOID:0080764 gene duplication disease,DOID:0080712 spermatogenic failure 41,DOID:0111912 immunodeficiency 22,DOID:0111937 X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques,DOID:0112012 immunodeficiency 49,DOID:0111979 immunodeficiency 65,DOID:0111978 immunodeficiency 17,DOID:0111973 immunodeficiency 56,DOID:0111982 immunodeficiency 19,DOID:0111972 spermatogenic failure 34,DOID:0111911 multisystem inflammatory syndrome in children,DOID:0080711 Ehlers-Danlos syndrome spondylodysplastic type 1,DOID:0080738 MECP2 duplication syndrome, immunodeficiency 32B,DOID:0111985 immunodeficiency 18,DOID:0111971 pituitary adenoma 1,DOID:0112009 immunodeficiency 52,DOID:0111983 immunodeficiency 10,DOID:0111970 infantile liver failure syndrome,DOID:0080716 immunodeficiency 60,DOID:0111954 immunodeficiency 70,DOID:0112005 Ehlers-Danlos syndrome arthrochalasia type 2,DOID:0080728 BASAN syndrome,DOID:0080725 developmental and epileptic encephalopathy 82,DOID:0080715 Ehlers-Danlos syndrome kyphoscoliotic type 1,DOID:0080734 immunodeficiency 35,DOID:0111989 immunodeficiency 9,DOID:0111976 immunodeficiency 46,DOID:0111948 severe congenital encephalopathy due to MECP2 mutation,DOID:0111932 desmoplastic small round cell tumor,DOID:6785 immunodeficiency 32A,DOID:0111986 immunodeficiency 44,DOID:0111975 syndactyly-telecanthus-anogenital and renal malformations syndrome,DOID:0111931 immunodeficiency 38,DOID:0111934 phosphoglycerate kinase 1 deficiency,DOID:0111933 immunodeficiency 59,DOID:0111974 polymyositis,DOID:0080745 immunodeficiency 58,DOID:0111984 Kenny-Caffey syndrome,DOID:0080724 Ehlers-Danlos syndrome classic-like 1,DOID:0080731 Ehlers-Danlos syndrome arthrochalasia type 1,DOID:0080727 immunodeficiency 36,DOID:0111949 autosomal recessive intellectual developmental disorder 72,DOID:0080765 Ehlers-Danlos syndrome classic-like 2,DOID:0080732 immunodeficiency 11A,DOID:0111957 Kenny-Caffey syndrome type 2,DOID:0080723 immunodeficiency 31A,DOID:0111945 diffuse gastric cancer,DOID:0080763 immunodeficiency 57,DOID:0111952 antisynthetase syndrome,DOID:0080744 chronic urticaria,DOID:0080747 Ehlers-Danlos syndrome classic type 2,DOID:0080726 Ehlers-Danlos syndrome spondylodysplastic type 3,DOID:0080739 immunodeficiency 50,DOID:0112001 immunodeficiency 47,DOID:0112002 immunodeficiency 16,DOID:0111935 autosomal dominant congenital deafness with onychodystrophy,DOID:0080720 limbic encephalitis,DOID:0080741 immunodeficiency 40,DOID:0111951 transverse myelitis,DOID:0080743 autoimmune cholangitis,DOID:0080742 Kenny-Caffey syndrome type 1,DOID:0080722 chronic spontaneous urticaria,DOID:0080749 immunodeficiency 31B,DOID:0111944 Ehlers-Danlos syndrome cardiac valvular type,DOID:0080730 infantile liver failure syndrome 1,DOID:0080717 autosomal recessive limb-girdle muscular dystrophy type 2Z,DOID:0080762 immunodeficiency 14,DOID:0111936 immunodeficiency 15B,DOID:0111959 Ehlers-Danlos syndrome musculocontractural type 1,DOID:0080736 immunodeficiency 20,DOID:0111941 immunodeficiency 13,DOID:0111987 Brown-Vialetto-Van Laere syndrome 1,DOID:0080785 non-syndromic X-linked intellectual disability 72,DOID:0112059 nuclear type mitochondrial complex I deficiency 24,DOID:0112079 early-onset vitamin B6-dependent epilepsy,DOID:0080769 pyridoxine-dependent epilepsy,DOID:0080768 erythrokeratodermia variabilis et progressiva 6,DOID:0080766 nuclear type mitochondrial complex I deficiency 17,DOID:0112078 non-syndromic X-linked intellectual disability 30,DOID:0112051 non-syndromic X-linked intellectual disability 63,DOID:0112050 alpha-thalassemia myelodysplasia syndrome,DOID:0112125 X-linked retinitis pigmentosa and sinorespiratory infections,DOID:0112124 HRPT-related hyperuricemia,DOID:0112127 Stocco Dos Santos type X-linked intellectual disability,DOID:0112126 nephrogenic syndrome of inappropriate antidiuresis,DOID:0112121 SHOX-related short stature,DOID:0112120 mammary analogue secretory carcinoma,DOID:0080808 X-linked epilepsy with variable learning disabilities and behavior disorders,DOID:0112122 cranioectodermal dysplasia 4,DOID:0080806 autosomal dominant craniodiaphyseal dysplasia,DOID:0080807 cranioectodermal dysplasia 2,DOID:0080804 cranioectodermal dysplasia 3,DOID:0080805 autosomal recessive craniometaphyseal dysplasia,DOID:0080802 X-linked severe congenital neutropenia,DOID:0112128 autosomal dominant craniometaphyseal dysplasia,DOID:0080801 Treacher Collins syndrome 4,DOID:0080792 X-linked spondyloepimetaphyseal dysplasia,DOID:0112150 acute erythroid leukemia,DOID:0080780 Treacher Collins syndrome 2,DOID:0080790 corpus callosum agenesis-abnormal genitalia syndrome,DOID:0112151 Treacher Collins syndrome 3,DOID:0080791 non-syndromic X-linked intellectual disability 19,DOID:0112019 non-syndromic X-linked intellectual disability 50,DOID:0112029 non-syndromic X-linked intellectual disability 103,DOID:0112020 non-syndromic X-linked intellectual disability ARX-related,DOID:0112021 non-syndromic X-linked intellectual disability 21,DOID:0112022 non-syndromic X-linked intellectual disability 58,DOID:0112024 female-restricted syndromic X-linked intellectual disability 99,DOID:0112025 non-syndromic X-linked intellectual disability 99,DOID:0112026 CHIME syndrome,DOID:0112152 hypomyelinating leukodystrophy 20,DOID:0112153 inflammatory bowel disease 30,DOID:0112154 inflammatory bowel disease 29,DOID:0112155 X-linked dyserythropoietic anemia,DOID:0112156 X-linked atrophic macular degeneration,DOID:0112157 extrinsic asthma,DOID:0080811 childhood-onset asthma,DOID:0080815 De Sanctis-Cacchione syndrome,DOID:0112158 autosomal dominant nonsyndromic deafness 78,DOID:0112159 non-syndromic X-linked intellectual disability 41,DOID:0112058 nuclear type mitochondrial complex I deficiency 31,DOID:0112071 combined oxidative phosphorylation deficiency 49,DOID:0112110 combined oxidative phosphorylation deficiency 50,DOID:0112111 core binding factor acute myeloid leukemia,DOID:0080796 non-syndromic X-linked intellectual disability 107,DOID:0112054 non-syndromic X-linked intellectual disability 105,DOID:0112036 non-syndromic X-linked intellectual disability 96,DOID:0112035 non-syndromic X-linked intellectual disability 9,DOID:0112034 retinitis pigmentosa 86,DOID:0112143 retinitis pigmentosa 85,DOID:0112142 retinitis pigmentosa 84,DOID:0112141 retinitis pigmentosa 83,DOID:0112140 retinitis pigmentosa 90,DOID:0112147 retinitis pigmentosa 89,DOID:0112146 retinitis pigmentosa 88,DOID:0112145 retinitis pigmentosa 87,DOID:0112144 terminal osseous dysplasia,DOID:0112149 Uruguay faciocardiomusculoskeletal syndrome,DOID:0112148 combined oxidative phosphorylation deficiency 41,DOID:0112119 combined oxidative phosphorylation deficiency 42,DOID:0112118 combined deficiency of vitamin K-dependent clotting factors 2,DOID:0112174 hereditary combined deficiency of vitamin K-dependent clotting factors,DOID:0112172 combined deficiency of vitamin K-dependent clotting factors 1,DOID:0112173 Noonan syndrome 12,DOID:0112170 wrinkly skin syndrome,DOID:0112171 "deafness, dystonia, and cerebral hypomyelination",DOID:0112123 nuclear type mitochondrial complex I deficiency 21,DOID:0112088 nuclear type mitochondrial complex I deficiency 11,DOID:0112089 nuclear type mitochondrial complex I deficiency 26,DOID:0112086 nuclear type mitochondrial complex I deficiency 23,DOID:0112087 nuclear type mitochondrial complex I deficiency 29,DOID:0112084 nuclear type mitochondrial complex I deficiency 19,DOID:0112085 nuclear type mitochondrial complex I deficiency 4,DOID:0112082 nuclear type mitochondrial complex I deficiency 2,DOID:0112083 nuclear type mitochondrial complex I deficiency 32,DOID:0112080 nuclear type mitochondrial complex I deficiency 8,DOID:0112081 severe congenital neutropenia 7,DOID:0112129 cranioectodermal dysplasia 1,DOID:0080803 Noonan syndrome 11,DOID:0112169 autosomal dominant nonsyndromic deafness 77,DOID:0112168 immunodeficiency 72,DOID:0112015 congenital megabladder,DOID:0112014 Noonan syndrome 13,DOID:0112161 autosomal dominant nonsyndromic deafness 79,DOID:0112160 spermatogenic failure 45,DOID:0112163 autosomal recessive nonsyndromic deafness 116,DOID:0112162 autosomal dominant nonsyndromic deafness 74,DOID:0112165 spermatogenic failure 46,DOID:0112164 autosomal dominant nonsyndromic deafness 76,DOID:0112167 autosomal dominant nonsyndromic deafness 75,DOID:0112166 nuclear type mitochondrial complex I deficiency 12,DOID:0112099 nuclear type mitochondrial complex I deficiency 30,DOID:0112098 nuclear type mitochondrial complex I deficiency 34,DOID:0112091 nuclear type mitochondrial complex I deficiency 27,DOID:0112090 nuclear type mitochondrial complex I deficiency 3,DOID:0112093 nuclear type mitochondrial complex I deficiency 7,DOID:0112092 nuclear type mitochondrial complex I deficiency 28,DOID:0112095 nuclear type mitochondrial complex I deficiency 14,DOID:0112094 nuclear type mitochondrial complex I deficiency 33,DOID:0112097 nuclear type mitochondrial complex I deficiency 16,DOID:0112096 primary coenzyme Q10 deficiency 9,DOID:0112138 nuclear type mitochondrial complex I deficiency 35,DOID:0112139 chronic asthma,DOID:0080809 immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis,DOID:0112064 nuclear type mitochondrial complex I deficiency,DOID:0112065 nuclear type mitochondrial complex I deficiency 6,DOID:0112066 nuclear type mitochondrial complex I deficiency 25,DOID:0112067 Raynaud-Claes syndrome,DOID:0112060 immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia,DOID:0112061 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia,DOID:0112062 X-Linked immunodeficiency 74,DOID:0112063 combined oxidative phosphorylation deficiency 47,DOID:0112114 combined oxidative phosphorylation deficiency 46,DOID:0112115 combined oxidative phosphorylation deficiency 43,DOID:0112116 combined oxidative phosphorylation deficiency 40,DOID:0112117 nuclear type mitochondrial complex I deficiency 5,DOID:0112068 nuclear type mitochondrial complex I deficiency 22,DOID:0112069 combined oxidative phosphorylation deficiency 48,DOID:0112112 combined oxidative phosphorylation deficiency 45,DOID:0112113 non-syndromic X-linked intellectual disability 1,DOID:0112038 severe congenital neutropenia 2,DOID:0112131 non-syndromic X-linked intellectual disability 104,DOID:0112018 nuclear type mitochondrial complex I deficiency 15,DOID:0112077 nuclear type mitochondrial complex I deficiency 13,DOID:0112076 nuclear type mitochondrial complex I deficiency 10,DOID:0112075 nuclear type mitochondrial complex I deficiency 1,DOID:0112074 nuclear type mitochondrial complex I deficiency 9,DOID:0112073 nuclear type mitochondrial complex I deficiency 20,DOID:0112072 spermatogenic failure 44,DOID:0112109 myofibrillar myopathy 10,DOID:0112108 McLeod syndrome,DOID:0112107 "chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia",DOID:0112106 X-linked parkinsonism-spasticity syndrome,DOID:0112105 Sotos syndrome 3,DOID:0112104 Sotos syndrome 1,DOID:0112103 Sotos syndrome 2,DOID:0112102 human cytomegalovirus infection,DOID:0080827 VEXAS syndrome,DOID:0080828 low grade glioma,DOID:0080829 sinonasal undifferentiated carcinoma,DOID:0080799 proximal symphalangism 1,DOID:0080787 Brown-Vialetto-Van Laere syndrome 2,DOID:0080786 nuclear type mitochondrial complex I deficiency 18,DOID:0112070 transient infantile liver failure,DOID:0080778 plasmablastic lymphoma,DOID:0080779 complete androgen insensitivity syndrome,DOID:0080775 autosomal dominant beta thalassemia,DOID:0080770 beta-thalassemia major,DOID:0080771 beta-thalassemia intermedia,DOID:0080772 delta beta-thalassemia,DOID:0080773 Tonne-Kalscheuer syndrome,DOID:0112042 non-syndromic X-linked intellectual disability 91,DOID:0112043 non-syndromic X-linked intellectual disability 100,DOID:0112040 non-syndromic X-linked intellectual disability 90,DOID:0112041 non-syndromic X-linked intellectual disability 97,DOID:0112046 non-syndromic X-linked intellectual disability 98,DOID:0112044 non-syndromic X-linked intellectual disability 93,DOID:0112045 severe congenital neutropenia 5,DOID:0112132 severe congenital neutropenia 3,DOID:0112133 non-syndromic X-linked intellectual disability 101,DOID:0112048 severe congenital neutropenia 4,DOID:0112136 combined oxidative phosphorylation deficiency 51,DOID:0112137 severe congenital neutropenia 6,DOID:0112134 severe congenital neutropenia 8,DOID:0112135 mild cognitive impairment,DOID:0080832 subjective cognitive decline,DOID:0080831 childhood low-grade glioma,DOID:0080830 X-linked intellectual disability-short stature-overweight syndrome,DOID:0112056 urinary tract infection,DOID:0080784 Treacher Collins syndrome 1,DOID:0080789 proximal symphalangism 2,DOID:0080788 vitamin D-dependent rickets type 1A,DOID:0080886 vitamin D-dependent rickets type 1B,DOID:0080887 vitamin D-dependent rickets type 2A,DOID:0080884 vitamin D-dependent rickets,DOID:0080883 supratentorial ependymoma,DOID:0080890 Bainbridge-Ropers syndrome,DOID:0080893 solitary fibrous tumor/hemangiopericytoma,DOID:0080897 histone mutated tumor,DOID:0080879 tetraamelia syndrome 1,DOID:0112192 tetraamelia syndrome 2,DOID:0112193 thyroid dyshormonogenesis 3,DOID:0112187 thyroid dyshormonogenesis 2A,DOID:0112186 thyroid dyshormonogenesis 1,DOID:0112185 thyroid dyshormonogenesis 5,DOID:0112184 mismatch repair cancer syndrome,DOID:0112182 Schinzel type phocomelia,DOID:0112181 urocanase deficiency,DOID:0112180 thyroid dyshormonogenesis 6,DOID:0112189 thyroid dyshormonogenesis 4,DOID:0112188 spermatogenic failure 47,DOID:0112175 long COVID,DOID:0080848 intracranial meningioma,DOID:0080842 optic atrophy 12,DOID:0080840 pemphigoid,DOID:0080841 omodysplasia 1,DOID:0080844 omodysplasia 2,DOID:0080845 Filippi syndrome,DOID:0112194 spondyloperipheral dysplasia,DOID:0112195 "spondylometaepiphyseal dysplasia, short limb-hand type",DOID:0112196 spondyloepimetaphyseal dysplasia with joint laxity,DOID:0112197 distal arthrogryposis type 1C,DOID:0112190 tetraamelia syndrome,DOID:0112191 spermatogenic failure 48,DOID:0112176 Mayer-Rokitansky-Kuster-Hauser syndrome,DOID:0112177 Human papillomavirus infectious disease,DOID:11166 spondyloepimetaphyseal dysplasia with joint laxity type 1,DOID:0112198 spondyloepimetaphyseal dysplasia with joint laxity type 2,DOID:0112199 spondyloepimetaphyseal dysplasia with joint laxity type 3,DOID:0112200 growth hormone insensitivity syndrome with immune dysregulation 2,DOID:0080837 growth hormone insensitivity syndrome with immune dysregulation 1,DOID:0080836 X-linked warfarin sensitivity,DOID:0080839 diffuse astrocytoma,DOID:4857 developmental and epileptic encephalopathy 81,DOID:0112217 developmental and epileptic encephalopathy 80,DOID:0112216 developmental and epileptic encephalopathy 79,DOID:0112215 developmental and epileptic encephalopathy 78,DOID:0112214 multiple congenital anomalies-hypotonia-seizures syndrome 4,DOID:0112213 developmental and epileptic encephalopathy 76,DOID:0112212 developmental and epileptic encephalopathy 75,DOID:0112211 developmental and epileptic encephalopathy 74,DOID:0112210 chondrodysplasia with joint dislocations gPAPP type,DOID:0112224 developmental and epileptic encephalopathy 84,DOID:0112219 developmental and epileptic encephalopathy 83,DOID:0112218 primary ovarian insufficiency 12,DOID:0080869 primary ovarian insufficiency 7,DOID:0080864 primary ovarian insufficiency 8,DOID:0080865 primary ovarian insufficiency 9,DOID:0080866 primary ovarian insufficiency 10,DOID:0080867 primary ovarian insufficiency 3,DOID:0080860 primary ovarian insufficiency 4,DOID:0080861 primary ovarian insufficiency 5,DOID:0080862 primary ovarian insufficiency 6,DOID:0080863 developmental and epileptic encephalopathy 68,DOID:0112204 developmental and epileptic encephalopathy 69,DOID:0112205 developmental and epileptic encephalopathy 70,DOID:0112206 developmental and epileptic encephalopathy 71,DOID:0112207 anaplastic oligodendroglioma,DOID:7154 developmental and epileptic encephalopathy 88,DOID:0112222 developmental and epileptic encephalopathy 89,DOID:0112223 developmental and epileptic encephalopathy 86,DOID:0112220 developmental and epileptic encephalopathy 87,DOID:0112221 osteogenesis imperfecta type 21,DOID:0112201 developmental and epileptic encephalopathy,DOID:0112202 BH4-deficient hyperphenylalaninemia B,DOID:0112225 primary ovarian insufficiency 2B,DOID:0080859 developmental and epileptic encephalopathy 67,DOID:0112203 developmental and epileptic encephalopathy 72,DOID:0112208 developmental and epileptic encephalopathy 73,DOID:0112209 primary ovarian insufficiency 2A,DOID:0080858 Parkinsonism,DOID:0080855 primary ovarian insufficiency 1,DOID:0080857 vascular Parkinsonism,DOID:0080856 IgA pemphigus,DOID:0080851 pemphigus foliaceus,DOID:0080850 paraneoplastic pemphigus,DOID:0080852 primary ovarian insufficiency 17,DOID:0080874 primary ovarian insufficiency 16,DOID:0080873 primary ovarian insufficiency 15,DOID:0080872 primary ovarian insufficiency 14,DOID:0080871 primary ovarian insufficiency 13,DOID:0080870 nephrotic syndrome type 22,DOID:0112268 spermatogenic failure 49,DOID:0112271 lissencephaly 4,DOID:0112235 Leydig cell hypoplasia,DOID:0112259 spermatogenic failure 50,DOID:0112272 X-linked lissencephaly 1,DOID:0112239 X-linked lissencephaly 2,DOID:0112238 glutathione synthetase deficiency of erythrocytes,DOID:0112252 combined cellular and humoral immune defects with granulomas,DOID:0112253 microlissencephaly,DOID:0112234 Ghosal hematodiaphyseal syndrome,DOID:0112251 lissencephaly 6,DOID:0112236 lissencephaly 7 with cerebellar hypoplasia,DOID:0112231 lissencephaly 1,DOID:0112237 lissencephaly 8,DOID:0112233 lissencephaly 3,DOID:0112232 CNS neuroblastoma with FOXR2 activation,DOID:0080906 central nervous system neuroblastoma,DOID:0080905 "astroblastoma, MN1-altered",DOID:0080904 "embryonal tumor with multilayered rosettes, C19MC-altered",DOID:0080903 primary ovarian insufficiency 18,DOID:0112269 hydroxykynureninuria,DOID:0112257 Leber congenital amaurosis with early-onset deafness,DOID:0112240 lissencephaly 5,DOID:0112230 homocystinuria-megaloblastic anemia cblE type,DOID:0112255 hepatic venoocclusive disease with immunodeficiency,DOID:0112254 17-beta hydroxysteroid dehydrogenase 3 deficiency,DOID:0112248 GAPO syndrome,DOID:0112249 Woodhouse-Sakati syndrome,DOID:0112264 iminoglycinuria,DOID:0112265 homocystinuria-megaloblastic anemia cblG type,DOID:0112256 hypoinsulinemic hypoglycemia with hemihypertrophy,DOID:0112263 Leydig cell hypoplasia type I,DOID:0112260 congenital symmetric circumferential skin creases 1,DOID:0112242 congenital symmetric circumferential skin creases 2,DOID:0112243 "alopecia, neurologic defects, and endocrinopathy syndrome",DOID:0112244 focal segmental glomerulosclerosis 3,DOID:0112245 glutaric acidemia type 3,DOID:0112246 "congenital heart defects, dysmorphic facial features, and intellectual developmental disorder",DOID:0112247 nephrotic syndrome type 23,DOID:0112266 Bosch-Boonstra-Schaaf optic atrophy syndrome,DOID:0112226 tubulinopathy,DOID:0112227 spermatogenic failure 52,DOID:0112270 Gaucher's disease type IIIC,DOID:0112250 lissencephaly 9 with complex brainstem malformation,DOID:0112228 lissencephaly 10,DOID:0112229 spermatogenic failure 51,DOID:0112273 N-acetylglutamate synthase deficiency,DOID:0112258 leucine-sensitive hypoglycemia of infancy,DOID:0112262 nephrotic syndrome type 21,DOID:0112267 X-linked spermatogenic failure 3,DOID:0112274 pontocerebellar hypoplasia type 1,DOID:0112322 spermatogenic failure 54,DOID:0112335 pontocerebellar hypoplasia type 16,DOID:0112333 spermatogenic failure 55,DOID:0112337 pontocerebellar hypoplasia type 1F,DOID:0112331 pontocerebellar hypoplasia type 1E,DOID:0112330 pontocerebellar hypoplasia type 1C,DOID:0112334 pontocerebellar hypoplasia type 13,DOID:0112332 spermatogenic failure 57,DOID:0112338 retinal cone dystrophy 4,DOID:0081023 pontocerebellar hypoplasia type 14,DOID:0112325 spermatogenic failure 56,DOID:0112336 pontocerebellar hypoplasia type 15,DOID:0112326 pontocerebellar hypoplasia type 11,DOID:0112324 pontocerebellar hypoplasia type 2F,DOID:0112329 pontocerebellar hypoplasia type 2,DOID:0112328 retinal cone dystrophy 3B,DOID:0081022 pontocerebellar hypoplasia type 12,DOID:0112327 pontocerebellar hypoplasia type 1D,DOID:0112323 retinal cone dystrophy 3A,DOID:0081025 acute myeloid leukemia without maturation,DOID:0081086 X-linked nephrogenic diabetes insipidus,DOID:0081060 DICER1 syndrome,DOID:0081063 Graves ophthalmopathy,DOID:0081120 spondylocostal dysostosis 6,DOID:0112360 congenital limbs-face contractures-hypotonia-developmental delay syndrome,DOID:0081048 hereditary spastic paraplegia 80,DOID:0112341 spondylocostal dysostosis 4,DOID:0112364 frontonasal dysplasia 1,DOID:0081045 Tatton-Brown-Rahman syndrome,DOID:0112339 spondylocostal dysostosis 1,DOID:0112365 T-cell prolymphocytic leukemia,DOID:0081042 graft-versus-host disease,DOID:0081267 acute myeloid leukemia with maturation,DOID:0081087 frontonasal dysplasia,DOID:0081044 central diabetes insipidus,DOID:0081055 acute myelomonocytic leukemia,DOID:0081082