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Diffstat (limited to 'data/disease_name_with_id.csv')
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1 files changed, 6307 insertions, 0 deletions
diff --git a/data/disease_name_with_id.csv b/data/disease_name_with_id.csv new file mode 100644 index 0000000..6c9cb9f --- /dev/null +++ b/data/disease_name_with_id.csv @@ -0,0 +1,6307 @@ +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 |