K00006	Brugada syndrome [DS:H00728]
K00012	Early infantile epileptic encephalopathy [DS:H00606]
K00016	Glycogen storage disease [DS:H00069]
K00016	Muscle glycogen storage disease [DS:H01762]
K00016	Glycogen storage disease type XI [DS:H01946]
K00022	Disorders of mitochondrial fatty-acid oxidation [DS:H00525]
K00022	Familial hyperinsulinemic hypoglycemia [DS:H01267]
K00022	3-Hydroxyacyl-CoA dehydrogenase deficiency [DS:H01364]
K00025	Early infantile epileptic encephalopathy [DS:H00606]
K00026	Early infantile epileptic encephalopathy [DS:H00606]
K00030	Retinitis pigmentosa [DS:H00527]
K00031	D-2-hydroxyglutaric aciduria [DS:H01225]
K00031	Myelodysplastic syndrome [DS:H01481]
K00031	Peripheral T cell lymphoma [DS:H01892]
K00031	Myelodysplastic/myeloproliferative neoplasms [DS:H02410]
K00031	Atypical chronic myeloid leukemia [DS:H02412]
K00036	Other phagocyte defects [DS:H00101]
K00036	Anemia due to disorders of glutathione metabolism [DS:H00668]
K00036	Glucose 6-phosphate dehydrogenase deficiency [DS:H01375]
K00037	46,XY gonadal dysgenesis [DS:H00607]
K00049	Primary hyperoxaluria [DS:H00117]
K00058	3-Phosphoglycerate dehydrogenase (3-PGDH) deficiency [DS:H01079]
K00058	Neu-Laxova syndrome [DS:H02117]
K00061	Familial flecked retina syndrome [DS:H00825]
K00069	Primary hypertrophic osteoarthropathy [DS:H00457]
K00069	Isolated congenital nail clubbing [DS:H01246]
K00070	Congenital adrenal hyperplasia [DS:H00216]
K00071	Apparent mineralocorticoid excess syndrome [DS:H00259]
K00071	High blood pressure [DS:H01633]
K00071	Glucocorticoid-induced osteonecrosis [DS:H01709]
K00072	Primary dystonia [DS:H00831]
K00088	Retinitis pigmentosa [DS:H00527]
K00088	Leber congenital amaurosis [DS:H00837]
K00089	46,XY gonadal dysgenesis [DS:H00607]
K00106	Xanthinuria [DS:H00192]
K00109	L-2-hydroxyglutaric aciduria [DS:H01280]
K00128	Sjogren-Larsson syndrome [DS:H00162]
K00128	Acute alcohol sensitivity [DS:H01071]
K00128	Alcohol dependence [DS:H01611]
K00139	Succinic semialdehyde dehydrogenase deficiency [DS:H00835]
K00140	Methylmalonate semialdehyde dehydrogenase deficiency [DS:H02285]
K00161	Pyruvate dehydrogenase complex deficiency [DS:H00072]
K00161	Pyruvate dehydrogenase E1-alpha deficiency [DS:H01997]
K00162	Pyruvate dehydrogenase complex deficiency [DS:H00072]
K00162	Pyruvate dehydrogenase E1-beta deficiency [DS:H01998]
K00164	Diseases of the tricarboxylic acid cycle [DS:H01022]
K00164	Alpha-ketoglutarate dehydrogenase complex deficiency [DS:H02006]
K00166	Maple syrup urine disease [DS:H00172]
K00167	Maple syrup urine disease [DS:H00172]
K00181	Focal dermal hypoplasia [DS:H00949]
K00182	Congenital diarrhea [DS:H01174]
K00207	Dihydropyrimidine dehydrogenase deficiency [DS:H00193]
K00213	Smith-Lemli-Opitz syndrome [DS:H00161]
K00214	Hyperbiliverdinemia [DS:H01936]
K00227	Lathosterolosis [DS:H01281]
K00228	Hepatic porphyria [DS:H00202]
K00228	Porphyria [DS:H01763]
K00231	Hepatic porphyria [DS:H00202]
K00231	Porphyria [DS:H01763]
K00232	Peroxisomal beta-oxidation enzyme deficiency [DS:H00407]
K00232	Peroxisomal acyl-CoA oxidase deficiency [DS:H02096]
K00234	Dilated cardiomyopathy [DS:H00294]
K00234	Diseases of the tricarboxylic acid cycle [DS:H01022]
K00234	Leigh syndrome [DS:H01354]
K00234	Mitochondrial complex II deficiency [DS:H02005]
K00235	Cowden syndrome [DS:H01222]
K00235	Malignant paraganglioma [DS:H01510]
K00236	Malignant paraganglioma [DS:H01510]
K00237	Carcinoid [DS:H00034]
K00237	Cowden syndrome [DS:H01222]
K00237	Malignant paraganglioma [DS:H01510]
K00237	Mitochondrial complex II deficiency [DS:H02005]
K00248	Disorders of mitochondrial fatty-acid oxidation [DS:H00525]
K00248	SCAD deficiency [DS:H01980]
K00249	MCAD deficiency [DS:H00488]
K00249	Disorders of mitochondrial fatty-acid oxidation [DS:H00525]
K00249	Secondary hyperammonemia [DS:H01400]
K00251	Congenital bile acid synthesis defect [DS:H00628]
K00252	Glutaric acidemia [DS:H00178]
K00253	Isovaleric acidemia [DS:H00173]
K00253	Secondary hyperammonemia [DS:H01400]
K00254	Acrofacial dysostosis [DS:H01376]
K00261	Familial hyperinsulinemic hypoglycemia [DS:H01267]
K00261	Secondary hyperammonemia [DS:H01400]
K00274	Brunner syndrome [DS:H00548]
K00274	Obsessive-compulsive disorder [DS:H01450]
K00275	Pyridoxamine-5'-phosphate oxidase (PNPO) deficiency [DS:H01124]
K00277	Familial thoracic aortic aneurysm and dissection [DS:H00801]
K00281	Nonketotic hyperglycinemia [DS:H00191]
K00286	Cutis laxa [DS:H00557]
K00286	Geroderma osteodysplasticum [DS:H00558]
K00286	Hypomyelinating leukodystrophy [DS:H00679]
K00287	Dihydrofolate reductase deficiency [DS:H01197]
K00288	Spina bifida [DS:H00262]
K00294	Hyperprolinemia [DS:H00190]
K00311	Glutaric acidemia [DS:H00178]
K00311	Secondary hyperammonemia [DS:H01400]
K00312	Tetra-amelia syndrome [DS:H00636]
K00315	Dimethylglycine dehydrogenase deficiency [DS:H01003]
K00318	Hyperprolinemia [DS:H00190]
K00318	Schizophrenia [DS:H01649]
K00323	Familial glucocorticoid deficiency [DS:H00256]
K00326	Methemoglobinemia [DS:H00235]
K00327	Syndromic craniosynostoses [DS:H00458]
K00327	Antley-Bixler syndrome [DS:H01753]
K00327	Disordered steroidogenesis due to cytochrome P450 oxidoreductase [DS:H02315]
K00357	Phenylketonuria [DS:H00167]
K00382	Pyruvate dehydrogenase complex deficiency [DS:H00072]
K00382	Maple syrup urine disease [DS:H00172]
K00382	Dihydrolipoamide dehydrogenase deficiency [DS:H02000]
K00382	Alpha-ketoglutarate dehydrogenase complex deficiency [DS:H02006]
K00387	Sulfite oxidase deficiency [DS:H01237]
K00408	Mullerian agenesis [DS:H00600]
K00408	SERKAL syndrome [DS:H02317]
K00412	Leber hereditary optic atrophy [DS:H00068]
K00412	Kearns-Sayre syndrome [DS:H01355]
K00413	Mitochondrial complex III deficiency [DS:H02086]
K00415	Mitochondrial complex III deficiency [DS:H02086]
K00417	Mitochondrial complex III deficiency [DS:H02086]
K00418	Mitochondrial complex III deficiency [DS:H02086]
K00431	Thyroid dyshormonogenesis [DS:H00251]
K00432	Anemia due to disorders of glutathione metabolism [DS:H00668]
K00444	Robinow syndrome [DS:H00485]
K00451	Alkaptonuria [DS:H00163]
K00452	Vertebral, cardiac, renal, and limb defects syndrome [DS:H02087]
K00457	Tyrosinemia [DS:H00165]
K00472	Myopia [DS:H02041]
K00473	Nevo syndrome [DS:H00980]
K00473	Ehlers-Danlos syndrome kyphoscoliosis type [DS:H02245]
K00474	Autism [DS:H02111]
K00476	FDLAB syndrome [DS:H02255]
K00477	Refsum disease [DS:H00075]
K00478	Atrichia with papular lesions [DS:H00780]
K00478	Hypotrichosis [DS:H00786]
K00478	Marie-Unna hereditary hypotrichosis [DS:H00858]
K00478	Alopecia universalis [DS:H01158]
K00485	Trimethylaminuria [DS:H01234]
K00488	Cerebrotendinous xanthomatosis [DS:H00151]
K00497	Congenital adrenal hyperplasia [DS:H00216]
K00497	Glucocorticoid-remediable aldosteronism (GRA) [DS:H00602]
K00497	Primary aldosteronism [DS:H01603]
K00497	High blood pressure [DS:H01633]
K00498	Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete [DS:H02314]
K00500	Phenylketonuria [DS:H00167]
K00501	Primary dystonia [DS:H00831]
K00502	Major depressive disorder [DS:H01646]
K00502	Attention deficit hyperactivity disorder (ADHD) [DS:H01895]
K00503	Dopamine beta-hydroxylase deficiency [DS:H01005]
K00505	Oculocutaneous albinism [DS:H00168]
K00506	Oculocutaneous albinism [DS:H00168]
K00510	Chronic obstructive pulmonary disease (COPD) [DS:H01714]
K00512	Congenital adrenal hyperplasia [DS:H00216]
K00513	Congenital adrenal hyperplasia [DS:H00216]
K00515	Hypercarotenemia and vitamin A deficiency [DS:H01266]
K00522	Hemochromatosis [DS:H00211]
K00542	Guanidinoacetate methyltransferase deficiency [DS:H00834]
K00542	Cerebral creatine deficiency syndrome [DS:H00849]
K00545	Deafness, autosomal recessive [DS:H00605]
K00545	Obsessive-compulsive disorder [DS:H01450]
K00546	Autosomal recessive mental retardation [DS:H00768]
K00548	Spina bifida [DS:H00262]
K00548	Methylcobalamin deficiency type G [DS:H01285]
K00552	Hypermethioninemia [DS:H00184]
K00555	Autosomal recessive mental retardation [DS:H00768]
K00558	Hereditary sensory and autonomic neuropathy [DS:H00265]
K00569	Thiopurine S-methyltransferase deficiency (TPMT deficiency) [DS:H00964]
K00572	Fuhrmann syndrome [DS:H00846]
K00572	Al-Awadi/Raas-Rothschild syndrome [DS:H00847]
K00597	Homocystinuria [DS:H00183]
K00597	Spina bifida [DS:H00262]
K00597	Down syndrome [DS:H01552]
K00602	AICA-ribosiduria [DS:H00966]
K00604	Mitochondrial complex I deficiency [DS:H00473]
K00604	Combined oxidative phosphorylation deficiency [DS:H00891]
K00605	Nonketotic hyperglycinemia [DS:H00191]
K00611	Ornithine transcarbamylase deficiency [DS:H00187]
K00611	Primary hyperammonemic disorders (Urea cycle disorders) [DS:H01398]
K00613	Cerebral creatine deficiency syndrome [DS:H00849]
K00615	Short stature, developmental delay, congenital heart defect [DS:H02439]
K00616	Transaldolase deficiency [DS:H01189]
K00623	Congenital myasthenic syndrome [DS:H00770]
K00624	Neurodegeneration with brain iron accumulation [DS:H00833]
K00626	Alpha-methylacetoacetic aciduria [DS:H01076]
K00627	Pyruvate dehydrogenase complex deficiency [DS:H00072]
K00627	Pyruvate dehydrogenase E2 deficiency [DS:H01999]
K00643	Porphyria [DS:H01763]
K00649	Rhizomelic chondrodysplasia punctata [DS:H00207]
K00650	Lecithin:cholesterol acyltransferase deficiency [DS:H00158]
K00650	Atherosclerosis [DS:H02505]
K00654	Hereditary sensory and autonomic neuropathy [DS:H00265]
K00657	Keratosis follicularis spinulosa decalvans [DS:H00750]
K00659	Familial hypercholanemia [DS:H01935]
K00669	Delayed sleep phase syndrome [DS:H00689]
K00678	Leber congenital amaurosis [DS:H00837]
K00688	Glycogen storage disease [DS:H00069]
K00688	Hepatic glycogen storage disease [DS:H01760]
K00688	Muscle glycogen storage disease [DS:H01762]
K00688	Glycogen storage disease type V [DS:H01943]
K00688	Glycogen storage disease type VI [DS:H01944]
K00693	Glycogen storage disease [DS:H00069]
K00693	Hepatic glycogen storage disease [DS:H01760]
K00693	Muscle glycogen storage disease [DS:H01762]
K00693	Glycogen storage disease type 0b [DS:H01949]
K00693	Glycogen storage disease type 0a [DS:H01950]
K00699	Hyperbilirubinemia [DS:H00208]
K00699	Osteoporosis [DS:H01593]
K00699	Crigler-Najjar syndrome [DS:H02054]
K00699	Gilbert syndrome [DS:H02055]
K00699	Transient familial neonatal hyperbilirubinemia [DS:H02152]
K00700	Glycogen storage disease [DS:H00069]
K00700	Hepatic glycogen storage disease [DS:H01760]
K00700	Muscle glycogen storage disease [DS:H01762]
K00700	Glycogen storage disease type IV [DS:H01942]
K00710	Colorectal cancer [DS:H00020]
K00710	Congenital disorders of glycosylation type II [DS:H00119]
K00710	Familial tumoral calcinosis [DS:H01193]
K00710	Williams-Beuren syndrome [DS:H01439]
K00717	Congenital disorder of glycosylation with defective fucosylation [DS:H02451]
K00721	Congenital disorders of glycosylation type I [DS:H00118]
K00725	Hereditary spastic paraplegia [DS:H00266]
K00728	Muscular dystrophy-dystroglycanopathy type A [DS:H00120]
K00728	Limb-girdle muscular dystrophy [DS:H00593]
K00728	Muscular dystrophy-dystroglycanopathy type C [DS:H01959]
K00728	Muscular dystrophy-dystroglycanopathy type B [DS:H01960]
K00728	Muscular dystrophy-dystroglycanopathy [DS:H02307]
K00733	Ehlers-Danlos syndrome, spondylodysplastic type [DS:H02239]
K00734	SEMD with joint laxity type [DS:H01494]
K00734	Ehlers-Danlos syndrome, spondylodysplastic type [DS:H02239]
K00734	Al-Gazali syndrome [DS:H02436]
K00736	Congenital disorders of glycosylation type II [DS:H00119]
K00742	Adult i phenotype [DS:H01013]
K00742	Cataract [DS:H01202]
K00750	Glycogen storage disease [DS:H00069]
K00750	Muscle glycogen storage disease [DS:H01762]
K00750	Glycogen storage disease type XV [DS:H01955]
K00758	Mitochondrial DNA depletion syndrome [DS:H00469]
K00758	Mitochondrial neurogastrointestinal encephalomyopathy [DS:H01390]
K00759	Adenine phosphoribosyltransferase deficiency [DS:H00195]
K00760	Lesch-Nyhan syndrome [DS:H00194]
K00771	Desbuquois syndrome [DS:H00494]
K00771	Pseudoxanthoma elasticum [DS:H00560]
K00771	Spondyloocular syndrome [DS:H01496]
K00781	Early infantile epileptic encephalopathy [DS:H00606]
K00781	Autosomal recessive mental retardation [DS:H00768]
K00784	Combined oxidative phosphorylation deficiency [DS:H00891]
K00787	Porokeratosis [DS:H01933]
K00789	Hypermethioninemia [DS:H00184]
K00791	Combined oxidative phosphorylation deficiency [DS:H00891]
K00798	Methylmalonic aciduria [DS:H00174]
K00802	Snyder-Robinson syndrome [DS:H00597]
K00803	Rhizomelic chondrodysplasia punctata [DS:H00207]
K00807	Leukotriene C4 synthase deficiency [DS:H02284]
K00809	Syndromic neurodevelopmental disorder [DS:H02459]
K00810	Schnyder corneal dystrophy [DS:H00959]
K00814	Autosomal recessive mental retardation [DS:H00768]
K00815	Tyrosinemia [DS:H00165]
K00819	Ornithinaemia [DS:H00189]
K00819	Secondary hyperammonemia [DS:H01400]
K00820	Congenital myasthenic syndrome [DS:H00770]
K00830	Primary hyperoxaluria [DS:H00117]
K00831	Phosphoserine aminotransferase deficiency [DS:H01082]
K00831	Neu-Laxova syndrome [DS:H02117]
K00844	Retinitis pigmentosa [DS:H00527]
K00844	Anemia due to disorders of glycolytic enzymes [DS:H00664]
K00844	Neurodevelopmental disorder with structural brain abnormalities [DS:H02470]
K00849	Galactosemia [DS:H00070]
K00849	Galactokinase deficiency [DS:H02009]
K00850	Glycogen storage disease [DS:H00069]
K00850	Muscle glycogen storage disease [DS:H01762]
K00850	Glycogen storage disease type VII [DS:H01945]
K00856	Hypermethioninemia [DS:H00184]
K00857	Mitochondrial DNA depletion syndrome [DS:H00469]
K00857	Autosomal recessive progressive external ophthalmoplegia [DS:H01395]
K00858	Disorders of mitochondrial fatty-acid oxidation [DS:H00525]
K00858	2,4-Dienoyl-CoA reductase deficiency [DS:H01929]
K00864	Glycerol kinase deficiency [DS:H02013]
K00869	Mevalonate kinase deficiency [DS:H00206]
K00869	Porokeratosis [DS:H01933]
K00871	Glycogen storage disease [DS:H00069]
K00871	Hepatic glycogen storage disease [DS:H01760]
K00871	Glycogen storage disease type IX [DS:H01948]
K00888	Polymicrogyria [DS:H00271]
K00889	Lethal congenital contractural syndrome [DS:H00865]
K00894	Atypical chronic myeloid leukemia [DS:H02412]
K00898	Charcot-Marie-Tooth disease [DS:H00264]
K00901	Nephrotic syndrome [DS:H01657]
K00901	Membranoproliferative glomerulonephritis [DS:H01726]
K00902	Congenital disorders of glycosylation type I [DS:H00118]
K00904	Mitochondrial DNA depletion syndrome [DS:H00469]
K00904	Autosomal recessive progressive external ophthalmoplegia [DS:H01395]
K00905	Branched-chain ketoacid dehydrogenase kinase deficiency [DS:H02136]
K00907	Familial thoracic aortic aneurysm and dissection [DS:H00801]
K00909	Congenital stationary night blindness [DS:H00787]
K00921	Fleck corneal dystrophy [DS:H00957]
K00922	Ovarian cancer [DS:H00027]
K00922	Breast cancer [DS:H00031]
K00922	Hepatocellular carcinoma [DS:H00048]
K00922	Pituitary adenomas [DS:H01102]
K00922	Cowden syndrome [DS:H01222]
K00922	Activated PI3K-delta syndrome [DS:H01387]
K00922	Cushing syndrome [DS:H01431]
K00922	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi [DS:H01912]
K00922	Desmoplastic small round cell tumor [DS:H01985]
K00922	Megalencephaly-capillary malformation syndrome [DS:H02153]
K00922	CLAPO syndrome [DS:H02297]
K00927	Anemia due to disorders of glycolytic enzymes [DS:H00664]
K00939	T-B-Severe combined immunodeficiency [DS:H00092]
K00939	Anemia due to disorders of nucleotide metabolism [DS:H00674]
K00939	Reticular dysgenesis [DS:H01128]
K00939	Spermatogenic failure [DS:H01282]
K00948	Phosphoribosylpyrophosphate synthetase superactivity [DS:H00196]
K00948	Charcot-Marie-Tooth disease [DS:H00264]
K00948	Arts syndrome [DS:H00946]
K00948	Deafness, X-linked [DS:H01209]
K00949	Thiamine pyrophosphokinase deficiency [DS:H01567]
K00962	Combined oxidative phosphorylation deficiency [DS:H00891]
K00963	Early infantile epileptic encephalopathy [DS:H00606]
K00965	Galactosemia [DS:H00070]
K00965	Galactose-1P uridylyltransferase deficiency [DS:H02008]
K00966	Muscular dystrophy-dystroglycanopathy type A [DS:H00120]
K00966	Achalasia Addisonianism Alacrima syndrome [DS:H00257]
K00966	Limb-girdle muscular dystrophy [DS:H00593]
K00966	Muscular dystrophy-dystroglycanopathy type C [DS:H01959]
K00966	Muscular dystrophy-dystroglycanopathy type B [DS:H01960]
K00966	Muscular dystrophy-dystroglycanopathy [DS:H02307]
K00967	Hereditary spastic paraplegia [DS:H00266]
K00968	Spondylometaphyseal dysplasia with cone-rod dystrophy [DS:H01821]
K00993	Hereditary spastic paraplegia [DS:H00266]
K01001	Congenital disorders of glycosylation type I [DS:H00118]
K01001	Congenital myasthenic syndrome [DS:H00770]
K01015	Autosomal recessive congenital ichthyosis [DS:H00734]
K01020	Spondyloepiphyseal dysplasia with congenital joint dislocations [DS:H00762]
K01027	Succinyl CoA:3-oxoacid CoA transferase (SCOT) deficiency [DS:H01121]
K01045	Diabetic retinopathy [DS:H01457]
K01047	Fleck retina, familial benign [DS:H02440]
K01050	Butyrylcholinesterase deficiency [DS:H02432]
K01052	Lysosomal acid lipase deficiency [DS:H00148]
K01059	Hyperlipoproteinemia, type I [DS:H00154]
K01059	Hyperlipidemia [DS:H01635]
K01059	Hypertriglyceridemia [DS:H01637]
K01059	Primary hyperchylomicronemia [DS:H01784]
K01074	Neuronal ceroid lipofuscinosis [DS:H00149]
K01074	Santavuori-Haltia disease [DS:H02277]
K01077	Hypophosphatasia [DS:H00213]
K01079	Phosphoserine phosphatase deficiency [DS:H02116]
K01081	Hereditary spastic paraplegia [DS:H00266]
K01084	Glycogen storage disease [DS:H00069]
K01084	Darsun syndrome [DS:H00939]
K01084	Hepatic glycogen storage disease [DS:H01760]
K01084	Glycogen storage disease type I [DS:H01939]
K01092	Autosomal recessive mental retardation [DS:H00768]
K01099	Lowe syndrome [DS:H00692]
K01099	Dent disease [DS:H00694]
K01102	Pyruvate dehydrogenase complex deficiency [DS:H00072]
K01102	Pyruvate dehydrogenase phosphatase deficiency [DS:H01996]
K01108	Centronuclear myopathy [DS:H00700]
K01110	Small cell lung cancer [DS:H00013]
K01110	Prostate cancer [DS:H00024]
K01110	Endometrial cancer [DS:H00026]
K01110	Vulvar cancer [DS:H00029]
K01110	Breast cancer [DS:H00031]
K01110	Melanoma [DS:H00038]
K01110	Glioma [DS:H00042]
K01110	Hepatocellular carcinoma [DS:H00048]
K01110	PTEN hamartoma tumor syndrome [DS:H00539]
K01110	VACTERL/VATER association [DS:H01195]
K01110	Cowden syndrome [DS:H01222]
K01110	Mycosis fungoides [DS:H01463]
K01110	Meningioma [DS:H01556]
K01110	Diffuse large B-cell lymphoma, not otherwise specified [DS:H02434]
K01115	Cardiac valvular defect, developmental [DS:H02375]
K01131	X-linked ichthyosis [DS:H00134]
K01132	Mucopolysaccharidosis type IV [DS:H00123]
K01132	Mucopolysaccharidosis [DS:H00421]
K01134	Metachromatic leukodystrophy [DS:H00127]
K01134	Sphingolipidosis [DS:H00423]
K01135	Mucopolysaccharidosis type VI [DS:H00131]
K01135	Mucopolysaccharidosis [DS:H00421]
K01136	Mucopolysaccharidosis type II [DS:H00129]
K01136	Mucopolysaccharidosis [DS:H00421]
K01137	Mucopolysaccharidosis type III [DS:H00130]
K01137	Mucopolysaccharidosis [DS:H00421]
K01148	Dyskeratosis congenita [DS:H00507]
K01164	Anauxetic dysplasia [DS:H01967]
K01166	Cystic leukoencephalopathy without megalencephaly [DS:H00878]
K01186	Sialidosis [DS:H00142]
K01186	Glycoproteinoses [DS:H00422]
K01189	Fabry disease [DS:H00125]
K01189	Sphingolipidosis [DS:H00423]
K01192	beta-Mannosidosis [DS:H00140]
K01192	Glycoproteinoses [DS:H00422]
K01194	Trehalase deficiency [DS:H02090]
K01195	Mucopolysaccharidosis type VII [DS:H00132]
K01195	Mucopolysaccharidosis [DS:H00421]
K01196	Glycogen storage disease [DS:H00069]
K01196	Hepatic glycogen storage disease [DS:H01760]
K01196	Muscle glycogen storage disease [DS:H01762]
K01196	Glycogen storage disease type III [DS:H01941]
K01197	Mucopolysaccharidosis type IX [DS:H00133]
K01197	Mucopolysaccharidosis [DS:H00421]
K01201	Lewy body dementia (LBD) [DS:H00066]
K01201	Gaucher disease [DS:H00126]
K01201	Sphingolipidosis [DS:H00423]
K01202	Krabbe disease [DS:H00135]
K01202	Sphingolipidosis [DS:H00423]
K01203	Congenital sucrase-isomaltase deficiency [DS:H00115]
K01204	Alpha-N-acetylgalactosaminidase deficiency [DS:H00146]
K01204	Glycoproteinoses [DS:H00422]
K01205	Mucopolysaccharidosis type III [DS:H00130]
K01205	Mucopolysaccharidosis [DS:H00421]
K01206	Fucosidosis [DS:H00141]
K01206	Glycoproteinoses [DS:H00422]
K01217	Mucopolysaccharidosis type I [DS:H00128]
K01217	Mucopolysaccharidosis [DS:H00421]
K01228	Congenital disorders of glycosylation type II [DS:H00119]
K01229	Congenital lactase deficiency [DS:H00116]
K01251	Hypermethioninemia [DS:H00184]
K01253	Familial hypercholanemia [DS:H01935]
K01262	Nephronophthisis [DS:H00537]
K01275	Papillon-Lefevre syndrome [DS:H00274]
K01275	Lysosomal cysteine protease deficiencies [DS:H00425]
K01275	Haim-Munk syndrome [DS:H00696]
K01275	Prepubertal periodontitis [DS:H02050]
K01279	Neuronal ceroid lipofuscinosis [DS:H00149]
K01279	Autosomal recessive spinocerebellar ataxias [DS:H01891]
K01279	Jansky-Bielschowsky disease [DS:H02278]
K01283	Allograft rejection [DS:H00083]
K01283	Renal tubular dysgenesis [DS:H00575]
K01283	Diabetic nephropathy [DS:H01456]
K01283	Diabetic retinopathy [DS:H01457]
K01292	Carboxypeptidase N deficiency [DS:H01136]
K01311	Tropical calcific pancreatitis [DS:H00932]
K01311	Hereditary pancreatitis [DS:H00933]
K01312	Hereditary pancreatitis [DS:H00933]
K01313	Inherited thrombophilia [DS:H00223]
K01313	Congenital prothrombin deficiency [DS:H01254]
K01314	Factor X deficiency [DS:H02257]
K01315	Inherited thrombophilia [DS:H00223]
K01315	Plasminogen deficiency [DS:H01206]
K01316	Enterokinase deficiency [DS:H00988]
K01320	Factor VII deficiency [DS:H02256]
K01321	Hemophilia [DS:H00219]
K01321	Inherited thrombophilia [DS:H00223]
K01323	Factor XI deficiency [DS:H00938]
K01324	Fletcher factor deficiency [DS:H01078]
K01327	Neutropenic disorders [DS:H00100]
K01328	Factor XII deficiency [DS:H00941]
K01328	Hereditary angioedema [DS:H01006]
K01330	Classic complement pathway component defects [DS:H00102]
K01330	Ehlers-Danlos syndrome periodontal type [DS:H02240]
K01331	Classic complement pathway component defects [DS:H00102]
K01331	Ehlers-Danlos syndrome periodontal type [DS:H02240]
K01332	Systemic lupus erythematosus [DS:H00080]
K01332	Classic complement pathway component defects [DS:H00102]
K01332	Age-related macular degeneration [DS:H00821]
K01333	Complement regulatory protein defects [DS:H00106]
K01333	Age-related macular degeneration [DS:H00821]
K01333	Atypical hemolytic uremic syndrome [DS:H01434]
K01334	Alternative complement pathway component defects [DS:H00104]
K01335	Alternative complement pathway component defects [DS:H00104]
K01335	Age-related macular degeneration [DS:H00821]
K01335	Atypical hemolytic uremic syndrome [DS:H01434]
K01344	Inherited thrombophilia [DS:H00223]
K01344	Deep vein thrombosis [DS:H01723]
K01346	Abdominal obesity-metabolic syndrome [DS:H02384]
K01357	Split-hand/foot malformation [DS:H00471]
K01357	Tooth agenesis [DS:H00625]
K01357	Odontoonychodermal dysplasia [DS:H00646]
K01357	Schopf-Schulz-Passarge syndrome [DS:H00781]
K01358	Perrault syndrome [DS:H02095]
K01359	Prohormone convertase 1/3 deficiency [DS:H02105]
K01359	Genetic obesity [DS:H02106]
K01363	Tropical calcific pancreatitis [DS:H00932]
K01366	Type 1 diabetes mellitus [DS:H00408]
K01367	Hereditary spastic paraplegia [DS:H00266]
K01371	Pycnodysostosis [DS:H00273]
K01371	Lysosomal cysteine protease deficiencies [DS:H00425]
K01373	Neuronal ceroid lipofuscinosis [DS:H00149]
K01373	Kufs disease [DS:H02276]
K01376	Beukes hip dysplasia [DS:H01817]
K01376	Spondyloepimetaphyseal dysplasia [DS:H02187]
K01379	Neuronal ceroid lipofuscinosis [DS:H00149]
K01379	Cathepsin D deficiency [DS:H02279]
K01380	Autosomal dominant tubulointerstitial kidney disease [DS:H00541]
K01380	Renal tubular dysgenesis [DS:H00575]
K01380	Familial juvenile hyperuricemic nephropathy [DS:H02011]
K01388	Choriocarcinoma [DS:H00028]
K01388	Chronic obstructive pulmonary disease (COPD) [DS:H01714]
K01389	Spinocerebellar ataxia (SCA) [DS:H00063]
K01389	Charcot-Marie-Tooth disease [DS:H00264]
K01394	Coronary artery disease [DS:H01742]
K01398	Penile cancer [DS:H00025]
K01398	Choriocarcinoma [DS:H00028]
K01398	Torg syndrome [DS:H00472]
K01403	Penile cancer [DS:H00025]
K01403	Metaphyseal dysplasias [DS:H00479]
K01409	Galloway-Mowat syndrome [DS:H01722]
K01410	Combined oxidative phosphorylation deficiency [DS:H00891]
K01412	Autosomal recessive spinocerebellar ataxias [DS:H01891]
K01415	Hirschsprung disease [DS:H00910]
K01425	Early infantile epileptic encephalopathy [DS:H00606]
K01431	Beta-ureidopropionase deficiency [DS:H00200]
K01435	Biotinidase deficiency [DS:H01182]
K01437	Canavan disease [DS:H00074]
K01444	Aspartylglucosaminuria [DS:H00145]
K01444	Glycoproteinoses [DS:H00422]
K01456	Congenital disorders of glycosylation type I [DS:H00118]
K01464	Dihydropyrimidinase deficiency [DS:H00199]
K01469	5-Oxoprolinase deficiency [DS:H02313]
K01476	Hyperargininemia [DS:H00186]
K01476	Primary hyperammonemic disorders (Urea cycle disorders) [DS:H01398]
K01481	Uncombable hair syndrome [DS:H01796]
K01481	Preimplantation embryonic lethality [DS:H02335]
K01488	T-B-Severe combined immunodeficiency [DS:H00092]
K01488	Adenosine deaminase deficiency [DS:H02309]
K01490	Hereditary spastic paraplegia [DS:H00266]
K01490	Pontocerebellar hypoplasia [DS:H00897]
K01490	AMP deaminase deficiency [DS:H02237]
K01495	Phenylketonuria [DS:H00167]
K01495	Primary dystonia [DS:H00831]
K01510	Hereditary spastic paraplegia [DS:H00266]
K01513	Hypophosphatemic rickets [DS:H00214]
K01513	Type 2 diabetes mellitus [DS:H00409]
K01513	Ossification of the posterior longitudinal ligament of spine [DS:H00431]
K01513	Generalized arterial calcification of infancy [DS:H01002]
K01513	Cole disease [DS:H01394]
K01513	Genetic obesity [DS:H02106]
K01513	Autosomal recessive hypophosphatemic rickets [DS:H02139]
K01514	Neurodevelopmental disorder with microcephaly [DS:H02461]
K01519	Early infantile epileptic encephalopathy [DS:H00606]
K01522	Small cell lung cancer [DS:H00013]
K01522	Non-small cell lung cancer [DS:H00014]
K01528	Early infantile epileptic encephalopathy [DS:H00606]
K01530	Progressive familial intrahepatic cholestasis [DS:H00624]
K01530	Benign recurrent intrahepatic cholestasis [DS:H02192]
K01530	Intrahepatic cholestasis of pregnancy [DS:H02193]
K01537	Familial benign chronic pemphigus [DS:H00844]
K01538	Hypomagnesemia [DS:H01210]
K01539	Charcot-Marie-Tooth disease [DS:H00264]
K01539	Hemiplegic migraine [DS:H00775]
K01539	Primary dystonia [DS:H00831]
K01539	Alternating hemiplegia of childhood [DS:H00998]
K01539	Primary aldosteronism [DS:H01603]
K01539	CAPOS syndrome [DS:H02272]
K01555	Tyrosinemia [DS:H00165]
K01556	Hydroxykynureninuria [DS:H01583]
K01556	Vertebral, cardiac, renal, and limb defects syndrome [DS:H02087]
K01565	Mucopolysaccharidosis type III [DS:H00130]
K01565	Mucopolysaccharidosis [DS:H00421]
K01578	Malonyl-CoA decarboxylase deficiency [DS:H01283]
K01580	Spastic quadriplegic cerebral palsy [DS:H01097]
K01581	Neurodevelopmental disorder with structural brain abnormalities [DS:H02470]
K01590	Tourette syndrome [DS:H00862]
K01593	Aromatic L-amino acid decarboxylase deficiency [DS:H01161]
K01597	Porokeratosis [DS:H01933]
K01599	Erythropoietic porphyria [DS:H00201]
K01599	Hepatic porphyria [DS:H00202]
K01599	Porphyria [DS:H01763]
K01623	Glycogen storage disease [DS:H00069]
K01623	Hereditary fructose intolerance [DS:H00071]
K01623	Muscle glycogen storage disease [DS:H01762]
K01623	Glycogen storage disease type XII [DS:H01952]
K01634	Nephrotic syndrome [DS:H01657]
K01640	3-Hydroxy-3-methylglutaryl-CoA lyase deficiency [DS:H00179]
K01641	HMG-CoA synthase deficiency [DS:H01123]
K01672	Cerebellar ataxia, mental retardation (MR), and dysequilibrium syndrome (CAMRQ) [DS:H01204]
K01672	Hyperchlorhidrosis isolated (HCHLH) [DS:H01302]
K01672	Secondary hyperammonemia [DS:H01400]
K01679	Renal cell carcinoma [DS:H00021]
K01679	Multiple cutaneous and uterine leiomyomata [DS:H00804]
K01679	Diseases of the tricarboxylic acid cycle [DS:H01022]
K01679	Cushing syndrome [DS:H01431]
K01679	Malignant paraganglioma [DS:H01510]
K01679	Uterine leiomyoma [DS:H01640]
K01679	Fumarase deficiency [DS:H02004]
K01679	Bilateral macronodular adrenal hyperplasia [DS:H02049]
K01681	Optic atrophy [DS:H01020]
K01681	Infantile cerebellar-retinal degeneration [DS:H02113]
K01689	Glycogen storage disease [DS:H00069]
K01689	Muscle glycogen storage disease [DS:H01762]
K01689	Glycogen storage disease type XIII [DS:H01953]
K01697	Homocystinuria [DS:H00183]
K01698	Hepatic porphyria [DS:H00202]
K01698	Porphyria [DS:H01763]
K01710	Catel-Manzke syndrome [DS:H01845]
K01712	Urocanase deficiency [DS:H01233]
K01719	Erythropoietic porphyria [DS:H00201]
K01719	Porphyria [DS:H01763]
K01724	Phenylketonuria [DS:H00167]
K01737	Phenylketonuria [DS:H00167]
K01745	Histidinemia [DS:H00171]
K01749	Hepatic porphyria [DS:H00202]
K01749	Porphyria [DS:H01763]
K01755	Argininosuccinic aciduria [DS:H01028]
K01755	Primary hyperammonemic disorders (Urea cycle disorders) [DS:H01398]
K01756	Adenylosuccinate lyase deficiency [DS:H00197]
K01758	Cystathioninuria [DS:H00182]
K01764	Microphthalmia with linear skin defects syndrome [DS:H01904]
K01764	Microphthalmia, syndromic [DS:H02170]
K01772	Erythropoietic porphyria [DS:H00201]
K01772	Porphyria [DS:H01763]
K01784	Galactosemia [DS:H00070]
K01784	Galactose epimerase deficiency [DS:H02010]
K01785	Galactosemia [DS:H00070]
K01794	Ehlers-Danlos syndrome musculocontractural type [DS:H02246]
K01796	Peroxisomal beta-oxidation enzyme deficiency [DS:H00407]
K01796	Congenital bile acid synthesis defect [DS:H00628]
K01796	Alpha-methylacyl-CoA racemase deficiency [DS:H02099]
K01803	Anemia due to disorders of glycolytic enzymes [DS:H00664]
K01807	Ribose 5-phosphate isomerase deficiency [DS:H01135]
K01809	Congenital disorders of glycosylation type I [DS:H00118]
K01810	Anemia due to disorders of glycolytic enzymes [DS:H00664]
K01824	X-linked chondrodysplasia punctata [DS:H01194]
K01824	MEND syndrome [DS:H02248]
K01832	Diaphyseal dysplasia with anemia [DS:H00490]
K01834	Glycogen storage disease [DS:H00069]
K01834	Muscle glycogen storage disease [DS:H01762]
K01834	Glycogen storage disease type X [DS:H01951]
K01835	Glycogen storage disease [DS:H00069]
K01835	Congenital disorders of glycosylation type I [DS:H00118]
K01835	Muscle glycogen storage disease [DS:H01762]
K01835	Glycogen storage disease type XIV [DS:H01954]
K01836	Hyper-IgE syndrome [DS:H01968]
K01837	Anemia due to disorders of glycolytic enzymes [DS:H00664]
K01847	Methylmalonic aciduria [DS:H00174]
K01847	Secondary hyperammonemia [DS:H01400]
K01852	Hypotrichosis [DS:H00786]
K01852	Cataract [DS:H01202]
K01855	Autosomal recessive mental retardation [DS:H00768]
K01866	Charcot-Marie-Tooth disease [DS:H00264]
K01866	Myopathy with lactic acidosis and sideroblastic anaemia [DS:H00898]
K01867	Distal hereditary motor neuropathies [DS:H00856]
K01867	Syndromic neurodevelopmental disorder [DS:H02459]
K01868	Combined oxidative phosphorylation deficiency [DS:H00891]
K01869	Infantile liver failure [DS:H01367]
K01869	Perrault syndrome [DS:H02095]
K01870	CAGSSS syndrome [DS:H02232]
K01870	Growth retardation, impaired intellectual development, hypotonia, and hepatopathy [DS:H02437]
K01872	Charcot-Marie-Tooth disease [DS:H00264]
K01872	Early infantile epileptic encephalopathy [DS:H00606]
K01872	Combined oxidative phosphorylation deficiency [DS:H00891]
K01872	Leukoencephalopathy, progressive, with ovarian failure [DS:H02200]
K01873	Combined oxidative phosphorylation deficiency [DS:H00891]
K01873	Neurodevelopmental disorder with microcephaly [DS:H02461]
K01874	Charcot-Marie-Tooth disease [DS:H00264]
K01874	Combined oxidative phosphorylation deficiency [DS:H00891]
K01874	Spastic ataxia [DS:H01351]
K01874	Interstitial lung and liver disease [DS:H02124]
K01875	HUPRA syndrome [DS:H02441]
K01875	Neurodevelopmental disorder with microcephaly [DS:H02461]
K01876	Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation [DS:H00871]
K01880	Charcot-Marie-Tooth disease [DS:H00264]
K01880	Distal hereditary motor neuropathies [DS:H00856]
K01881	Early infantile epileptic encephalopathy [DS:H00606]
K01883	Combined oxidative phosphorylation deficiency [DS:H00891]
K01883	Microcephaly syndrome [DS:H02132]
K01885	Combined oxidative phosphorylation deficiency [DS:H00891]
K01886	Microcephaly syndrome [DS:H02132]
K01887	Hypomyelinating leukodystrophy [DS:H00679]
K01887	Pontocerebellar hypoplasia [DS:H00897]
K01889	Hereditary spastic paraplegia [DS:H00266]
K01889	Combined oxidative phosphorylation deficiency [DS:H00891]
K01889	Rajab interstitial lung disease with brain calcification [DS:H02466]
K01890	Rajab interstitial lung disease with brain calcification [DS:H02466]
K01892	Charcot-Marie-Tooth disease [DS:H00264]
K01892	Usher syndrome (US) [DS:H00779]
K01892	Perrault syndrome [DS:H02095]
K01893	Deafness, autosomal recessive [DS:H00605]
K01893	Combined oxidative phosphorylation deficiency [DS:H00891]
K01897	X-linked mental retardation [DS:H00480]
K01899	Mitochondrial DNA depletion syndrome [DS:H00469]
K01900	Mitochondrial DNA depletion syndrome [DS:H00469]
K01915	Congenital systemic glutamine deficiency [DS:H00923]
K01915	Secondary hyperammonemia [DS:H01400]
K01922	Dilated cardiomyopathy [DS:H00294]
K01934	Neurodevelopmental disorder with microcephaly [DS:H02461]
K01937	Combined immunodeficiency [DS:H00093]
K01939	Distal myopathy [DS:H00594]
K01940	Citrullinemia [DS:H00185]
K01940	Primary hyperammonemic disorders (Urea cycle disorders) [DS:H01398]
K01942	Holocarboxylase synthetase deficiency [DS:H00180]
K01948	Carbamoyl phosphate synthetase I deficiency [DS:H00164]
K01948	Primary hyperammonemic disorders (Urea cycle disorders) [DS:H01398]
K01953	Asparagine synthetase deficiency [DS:H01386]
K01958	Pyruvate carboxylase deficiency [DS:H00073]
K01958	Secondary hyperammonemia [DS:H01400]
K01965	Propionic acidemia [DS:H00175]
K01965	Secondary hyperammonemia [DS:H01400]
K01966	Propionic acidemia [DS:H00175]
K01966	Secondary hyperammonemia [DS:H01400]
K01968	3-Methylcrotonylglycinuria [DS:H00181]
K01969	3-Methylcrotonylglycinuria [DS:H00181]
K02085	Esophageal cancer [DS:H00017]
K02085	Gastric cancer [DS:H00018]
K02085	Colorectal cancer [DS:H00020]
K02085	Cancer of the anal canal [DS:H00044]
K02085	Gallbladder cancer [DS:H00047]
K02085	Sotos syndrome [DS:H00718]
K02085	Familial adenomatous polyposis [DS:H01025]
K02085	Cushing syndrome [DS:H01431]
K02085	Medulloblastoma [DS:H01667]
K02085	Complex cortical dysplasia with other brain malformations [DS:H01881]
K02085	Bilateral macronodular adrenal hyperplasia [DS:H02049]
K02085	Hepatoblastoma [DS:H02302]
K02089	Cervical cancer [DS:H00030]
K02089	Melanoma [DS:H00038]
K02089	Glioma [DS:H00042]
K02090	Lissencephaly [DS:H00268]
K02091	Primary microcephaly [DS:H00269]
K02105	Gastric cancer [DS:H00018]
K02105	Colorectal cancer [DS:H00020]
K02105	Endometrial cancer [DS:H00026]
K02105	Thyroid cancer [DS:H00032]
K02105	Hepatocellular carcinoma [DS:H00048]
K02105	Autosomal dominant mental retardation [DS:H00773]
K02105	Pilomatricoma [DS:H00947]
K02105	Medulloblastoma [DS:H01667]
K02105	Nephroblastoma [DS:H02301]
K02105	Hepatoblastoma [DS:H02302]
K02125	Kearns-Sayre syndrome [DS:H01355]
K02125	ATP synthase deficiency [DS:H01369]
K02126	Leber hereditary optic atrophy [DS:H00068]
K02126	Infantile bilateral striatal necrosis [DS:H01177]
K02126	Kearns-Sayre syndrome [DS:H01355]
K02126	NARP syndrome [DS:H01363]
K02126	ATP synthase deficiency [DS:H01369]
K02132	Combined oxidative phosphorylation deficiency [DS:H00891]
K02132	ATP synthase deficiency [DS:H01369]
K02134	ATP synthase deficiency [DS:H01369]
K02135	ATP synthase deficiency [DS:H01369]
K02145	Infantile or early childhood epileptic encephalopathy [DS:H02150]
K02147	Distal renal tubular acidosis (RTA type 1) [DS:H00428]
K02147	Zimmermann-Laband syndrome [DS:H01573]
K02147	DDOD syndrome [DS:H02219]
K02147	Renal tubular acidosis [DS:H02310]
K02150	Cutis laxa [DS:H00557]
K02154	Distal renal tubular acidosis (RTA type 1) [DS:H00428]
K02154	Osteopetrosis [DS:H00436]
K02154	Cutis laxa [DS:H00557]
K02154	Renal tubular acidosis [DS:H02310]
K02157	Hepatocellular carcinoma [DS:H00048]
K02157	Caudal duplication anomaly [DS:H00934]
K02157	Medulloblastoma [DS:H01667]
K02159	Colorectal cancer [DS:H00020]
K02161	Chronic lymphocytic leukemia [DS:H00005]
K02161	Small cell lung cancer [DS:H00013]
K02161	Choriocarcinoma [DS:H00028]
K02161	Cervical cancer [DS:H00030]
K02161	Kaposi sarcoma [DS:H00041]
K02161	Nasopharyngeal cancer [DS:H00054]
K02161	Follicular lymphoma [DS:H01613]
K02161	Diffuse large B-cell lymphoma, not otherwise specified [DS:H02434]
K02183	Long QT syndrome [DS:H00720]
K02183	Catecholaminergic polymorphic ventricular tachycardia [DS:H01019]
K02184	Autosomal recessive mental retardation [DS:H00768]
K02185	Metaphyseal dysplasias [DS:H00479]
K02208	Early infantile epileptic encephalopathy [DS:H00606]
K02208	Syndromic intellectual developmental disorder [DS:H02463]
K02209	Meier-Gorlin syndrome [DS:H01889]
K02212	Immunodeficiency associated with DNA repair defects [DS:H00094]
K02213	Meier-Gorlin syndrome [DS:H01889]
K02235	Omodysplasia [DS:H02154]
K02256	Leber hereditary optic atrophy [DS:H00068]
K02256	Cytochrome c oxidase (COX) deficiency [DS:H01368]
K02257	Leigh syndrome [DS:H01354]
K02257	Cytochrome c oxidase (COX) deficiency [DS:H01368]
K02259	Fatal infantile cardioencephalomyopathy [DS:H01200]
K02259	Leigh syndrome [DS:H01354]
K02259	Cytochrome c oxidase (COX) deficiency [DS:H01368]
K02261	Cytochrome c oxidase (COX) deficiency [DS:H01368]
K02262	Leber hereditary optic atrophy [DS:H00068]
K02262	Kearns-Sayre syndrome [DS:H01355]
K02262	Cytochrome c oxidase (COX) deficiency [DS:H01368]
K02263	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis [DS:H00920]
K02266	Charcot-Marie-Tooth disease [DS:H00264]
K02267	Cytochrome c oxidase (COX) deficiency [DS:H01368]
K02271	Microphthalmia with linear skin defects syndrome [DS:H01904]
K02295	Delayed sleep phase syndrome [DS:H00689]
K02308	Pancreatic neuroendocrine tumor [DS:H00045]
K02318	Neurodegeneration with brain iron accumulation [DS:H00833]
K02320	Syndromic X-linked mental retardation [DS:H00658]
K02320	X-linked reticulate pigmentary disorder with systemic manifestations [DS:H02484]
K02324	IMAGE-I syndrome [DS:H02369]
K02324	FILS syndrome [DS:H02370]
K02332	Mitochondrial DNA depletion syndrome [DS:H00469]
K02332	Progressive external ophthalmoplegia [DS:H01118]
K02332	Mitochondrial recessive ataxia syndrome [DS:H01384]
K02332	Alpers syndrome [DS:H01389]
K02332	Mitochondrial neurogastrointestinal encephalomyopathy [DS:H01390]
K02332	Autosomal recessive progressive external ophthalmoplegia [DS:H01395]
K02333	Mitochondrial DNA depletion syndrome [DS:H00469]
K02333	Progressive external ophthalmoplegia [DS:H01118]
K02353	Robinow syndrome [DS:H00485]
K02354	Familial exudative vitreoretinopathy [DS:H00589]
K02355	Combined oxidative phosphorylation deficiency [DS:H00891]
K02357	Combined oxidative phosphorylation deficiency [DS:H00891]
K02358	Combined oxidative phosphorylation deficiency [DS:H00891]
K02366	Multiple exostoses [DS:H00122]
K02366	Heparan sulfate proteoglycan gene defects [DS:H00493]
K02366	Trichorhinophalangeal syndrome [DS:H00977]
K02367	Multiple exostoses [DS:H00122]
K02367	Heparan sulfate proteoglycan gene defects [DS:H00493]
K02370	Immunoskeletal dysplasia with neurodevelopmental abnormalities [DS:H02491]
K02376	Nonsyndromic congenital nail disorder [DS:H01307]
K02427	Mitochondrial DNA depletion syndrome [DS:H00469]
K02432	Breast cancer [DS:H00031]
K02432	Hepatocellular carcinoma [DS:H00048]
K02433	Combined oxidative phosphorylation deficiency [DS:H00891]
K02434	Combined oxidative phosphorylation deficiency [DS:H00891]
K02435	Combined oxidative phosphorylation deficiency [DS:H00891]
K02437	Nonketotic hyperglycinemia [DS:H00191]
K02449	Al Kaissi syndrome [DS:H02493]
K02503	Autosomal recessive neuromyotonia and axonal neuropathy [DS:H02390]
K02514	Hypogonadotropic hypogonadism [DS:H00255]
K02540	Deafness, autosomal dominant [DS:H00604]
K02576	Autosomal recessive mental retardation [DS:H00768]
K02580	Common variable immunodeficiency [DS:H00088]
K02582	Hereditary sensory and autonomic neuropathy [DS:H00265]
K02599	T-cell acute lymphoblastic leukemia [DS:H00002]
K02599	Breast cancer [DS:H00031]
K02599	Aortic valve disease [DS:H00554]
K02599	Adams-Oliver syndrome [DS:H01413]
K02603	Meier-Gorlin syndrome [DS:H01889]
K02606	Meier-Gorlin syndrome [DS:H01889]
K02608	Meier-Gorlin syndrome [DS:H01889]
K02633	Familial advanced sleep phase syndrome [DS:H00688]
K02649	SHORT syndrome [DS:H01370]
K02649	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome [DS:H01885]
K02740	Autoinflammation lipodystrophy and dermatosis syndrome [DS:H01741]
K02832	Autosomal recessive mental retardation [DS:H00768]
K02832	Syndromic autosomal recessive mental retardation [DS:H01911]
K02833	Bladder cancer [DS:H00022]
K02833	Penile cancer [DS:H00025]
K02833	Cervical cancer [DS:H00030]
K02833	Thyroid cancer [DS:H00032]
K02833	Squamous cell carcinoma [DS:H00040]
K02833	Noonan syndrome and related disorders [DS:H00523]
K02833	Giant cell tumor of bone [DS:H01470]
K02833	Merkel cell carcinoma [DS:H01555]
K02833	Medullary thyroid cancer [DS:H01592]
K02833	Angiosarcoma [DS:H01666]
K02833	Costello syndrome [DS:H01747]
K02842	Williams-Beuren syndrome [DS:H01439]
K02866	Syndromic X-linked mental retardation [DS:H00658]
K02866	Autism [DS:H02111]
K02868	Diamond-Blackfan anemia [DS:H00237]
K02873	Spondyloepimetaphyseal dysplasia [DS:H02187]
K02877	Diamond-Blackfan anemia [DS:H00237]
K02883	Diamond-Blackfan anemia [DS:H00237]
K02889	Hypotrichosis [DS:H00786]
K02898	Diamond-Blackfan anemia [DS:H00237]
K02901	Diamond-Blackfan anemia [DS:H00237]
K02906	Combined oxidative phosphorylation deficiency [DS:H00891]
K02917	Diamond-Blackfan anemia [DS:H00237]
K02918	Diamond-Blackfan anemia [DS:H00237]
K02932	Diamond-Blackfan anemia [DS:H00237]
K02935	Combined oxidative phosphorylation deficiency [DS:H00891]
K02947	Diamond-Blackfan anemia [DS:H00237]
K02954	Combined oxidative phosphorylation deficiency [DS:H00891]
K02955	5q- syndrome [DS:H01484]
K02957	Diamond-Blackfan anemia [DS:H00237]
K02959	Combined oxidative phosphorylation deficiency [DS:H00891]
K02962	Diamond-Blackfan anemia [DS:H00237]
K02966	Diamond-Blackfan anemia [DS:H00237]
K02967	Combined oxidative phosphorylation deficiency [DS:H00891]
K02974	Diamond-Blackfan anemia [DS:H00237]
K02976	Diamond-Blackfan anemia [DS:H00237]
K02978	Diamond-Blackfan anemia [DS:H00237]
K02979	Diamond-Blackfan anemia [DS:H00237]
K02980	Diamond-Blackfan anemia [DS:H00237]
K02992	Combined oxidative phosphorylation deficiency [DS:H00891]
K02993	Diamond-Blackfan anemia [DS:H00237]
K02998	Congenital asplenia [DS:H01435]
K02999	Acrofacial dysostosis [DS:H01376]
K03006	Syndromic neurodevelopmental disorder [DS:H02459]
K03018	Hypomyelinating leukodystrophy [DS:H00679]
K03020	Treacher Collins syndrome [DS:H00610]
K03021	Hypomyelinating leukodystrophy [DS:H00679]
K03027	Treacher Collins syndrome [DS:H00610]
K03027	Hypomyelinating leukodystrophy [DS:H00679]
K03068	Breast cancer [DS:H00031]
K03068	Osteopetrosis [DS:H00436]
K03068	Worth type autosomal dominant osteosclerosis [DS:H00450]
K03068	Osteoporosis-pseudoglioma syndrome [DS:H00451]
K03068	Familial exudative vitreoretinopathy [DS:H00589]
K03068	Tooth agenesis [DS:H00625]
K03068	Osteoporosis [DS:H01593]
K03068	Coronary artery disease [DS:H01742]
K03068	Hyperostosis corticalis generalisata [DS:H01774]
K03068	Atherosclerosis [DS:H02505]
K03097	Syndromic neurodevelopmental disorder [DS:H02459]
K03099	Noonan syndrome and related disorders [DS:H00523]
K03099	Hereditary gingival fibromatosis [DS:H01250]
K03099	Noonan syndrome [DS:H01738]
K03111	Optic atrophy [DS:H01020]
K03120	Spinocerebellar ataxia (SCA) [DS:H00063]
K03120	Huntington disease-like syndrome [DS:H01243]
K03121	Williams-Beuren syndrome [DS:H01439]
K03125	Syndromic X-linked mental retardation [DS:H00658]
K03125	Primary dystonia [DS:H00831]
K03127	Autosomal recessive mental retardation [DS:H00768]
K03128	Autosomal recessive mental retardation [DS:H00768]
K03129	Spermatogenic failure [DS:H01282]
K03131	Wiedemann-Steiner syndrome [DS:H01879]
K03137	Trichothiodystrophy [DS:H00866]
K03156	Asthma [DS:H00079]
K03156	Systemic lupus erythematosus [DS:H00080]
K03156	Allograft rejection [DS:H00083]
K03156	Graft-versus-host disease [DS:H00084]
K03158	Tumor necrosis factor receptor-associated periodic syndrome [DS:H00912]
K03158	Multiple sclerosis [DS:H01490]
K03160	Hyper IgM syndromes, autosomal recessive type [DS:H00086]
K03160	Combined immunodeficiency [DS:H00093]
K03161	Combined immunodeficiency [DS:H00093]
K03165	Microcephaly, growth restriction, and increased sister chromatid exchange [DS:H02492]
K03176	Thyroid cancer [DS:H00032]
K03176	Neuroblastoma [DS:H00043]
K03176	Hereditary sensory and autonomic neuropathy [DS:H00265]
K03176	Congenital pain insensitivity with anhidrosis [DS:H01836]
K03178	Spinal muscular atrophy [DS:H00455]
K03209	Osteogenesis imperfecta [DS:H00506]
K03209	Osteoporosis [DS:H01593]
K03211	Thrombocytopenia (THC) [DS:H00978]
K03231	Early infantile epileptic encephalopathy [DS:H00606]
K03231	Autosomal dominant mental retardation [DS:H00773]
K03234	Spinocerebellar ataxia (SCA) [DS:H00063]
K03239	Leukoencephalopathy with vanishing white matter [DS:H00869]
K03240	Leukoencephalopathy with vanishing white matter [DS:H00869]
K03241	Leukoencephalopathy with vanishing white matter [DS:H00869]
K03242	MEHMO syndrome [DS:H02195]
K03249	Autosomal recessive mental retardation [DS:H00768]
K03259	Autism [DS:H02111]
K03260	Parkinson disease [DS:H00057]
K03331	Pentosuria [DS:H01065]
K03341	Pontocerebellar hypoplasia [DS:H00897]
K03348	Rothmund-Thomson syndrome [DS:H01734]
K03362	Neurodevelopmental disorder with dysmorphic facies and skeletal anomalies [DS:H02460]
K03370	Amish infantile epilepsy syndrome [DS:H00996]
K03372	Hereditary spastic paraplegia [DS:H00266]
K03434	CHIME syndrome [DS:H01487]
K03434	Inherited glycosylphosphatidylinositol deficiencies [DS:H01489]
K03443	Oocyte maturation defect [DS:H01897]
K03454	Charcot-Marie-Tooth disease [DS:H00264]
K03456	Autosomal dominant mental retardation [DS:H00773]
K03469	Autosomal recessive progressive external ophthalmoplegia [DS:H01395]
K03495	Combined oxidative phosphorylation deficiency [DS:H00891]
K03509	Disorders of nucleotide excision repair [DS:H00403]
K03509	Xeroderma pigmentosum [DS:H01428]
K03521	Glutaric acidemia [DS:H00178]
K03521	Secondary hyperammonemia [DS:H01400]
K03522	Glutaric acidemia [DS:H00178]
K03522	Secondary hyperammonemia [DS:H01400]
K03575	Familial adenomatous polyposis [DS:H01025]
K03593	Mitochondrial complex I deficiency [DS:H00473]
K03595	Perrault syndrome [DS:H02095]
K03635	Molybdenum cofactor deficiency [DS:H02311]
K03644	Hyperglycinemia, lactic acidosis, and seizures [DS:H02438]
K03648	Hyper IgM syndromes, autosomal recessive type [DS:H00086]
K03650	Combined oxidative phosphorylation deficiency [DS:H00891]
K03671	Combined oxidative phosphorylation deficiency [DS:H00891]
K03680	Leukoencephalopathy with vanishing white matter [DS:H00869]
K03681	Pontocerebellar hypoplasia [DS:H00897]
K03691	Dowling-Degos disease [DS:H00944]
K03695	3-Methylglutaconic aciduria [DS:H00754]
K03754	Leukoencephalopathy with vanishing white matter [DS:H00869]
K03768	Osteogenesis imperfecta [DS:H00506]
K03781	Acatalasemia [DS:H00203]
K03783	Combined immunodeficiency [DS:H00093]
K03841	Fructose-1,6-bisphosphatase deficiency [DS:H00114]
K03842	Congenital disorders of glycosylation type I [DS:H00118]
K03843	Congenital disorders of glycosylation type I [DS:H00118]
K03843	Congenital myasthenic syndrome [DS:H00770]
K03844	Congenital disorders of glycosylation type I [DS:H00118]
K03845	Congenital disorders of glycosylation type I [DS:H00118]
K03846	Congenital disorders of glycosylation type I [DS:H00118]
K03847	Congenital disorders of glycosylation type I [DS:H00118]
K03848	Congenital disorders of glycosylation type I [DS:H00118]
K03849	Congenital disorders of glycosylation type I [DS:H00118]
K03857	Paroxysmal nocturnal hemoglobinuria [DS:H01053]
K03857	Multiple congenital anomalies-hypotonia-seizures syndrome [DS:H01486]
K03857	Inherited glycosylphosphatidylinositol deficiencies [DS:H01489]
K03858	Inherited glycosylphosphatidylinositol deficiencies [DS:H01489]
K03859	Autosomal recessive mental retardation [DS:H00768]
K03859	Inherited glycosylphosphatidylinositol deficiencies [DS:H01489]
K03860	Early infantile epileptic encephalopathy [DS:H00606]
K03860	Multiple congenital anomalies-hypotonia-seizures syndrome [DS:H01486]
K03860	Inherited glycosylphosphatidylinositol deficiencies [DS:H01489]
K03861	Early infantile epileptic encephalopathy [DS:H00606]
K03861	Inherited glycosylphosphatidylinositol deficiencies [DS:H01489]
K03869	Hyperkalemic distal renal tubular acidosis (RTA type 4) [DS:H00243]
K03869	Renal tubular acidosis [DS:H02310]
K03871	Renal cell carcinoma [DS:H00021]
K03871	Congenital polycythemia [DS:H00236]
K03871	von Hippel-Lindau syndrome [DS:H00559]
K03871	Malignant paraganglioma [DS:H01510]
K03878	Leber hereditary optic atrophy [DS:H00068]
K03878	Mitochondrial complex I deficiency [DS:H00473]
K03878	MELAS Syndrome [DS:H01347]
K03878	Leber hereditary optic neuropathy and dystonia [DS:H01365]
K03879	Leber hereditary optic atrophy [DS:H00068]
K03879	Mitochondrial complex I deficiency [DS:H00473]
K03880	Mitochondrial complex I deficiency [DS:H00473]
K03880	Kearns-Sayre syndrome [DS:H01355]
K03880	Leber hereditary optic neuropathy and dystonia [DS:H01365]
K03881	Leber hereditary optic atrophy [DS:H00068]
K03881	Mitochondrial complex I deficiency [DS:H00473]
K03881	Kearns-Sayre syndrome [DS:H01355]
K03881	Leber hereditary optic neuropathy and dystonia [DS:H01365]
K03882	Leber hereditary optic atrophy [DS:H00068]
K03882	Mitochondrial complex I deficiency [DS:H00473]
K03882	Kearns-Sayre syndrome [DS:H01355]
K03883	Leber hereditary optic atrophy [DS:H00068]
K03883	Mitochondrial complex I deficiency [DS:H00473]
K03883	MELAS Syndrome [DS:H01347]
K03883	Kearns-Sayre syndrome [DS:H01355]
K03883	Myoclonic Epilepsy and Ragged-Red Fiber Disease [DS:H01356]
K03884	Leber hereditary optic atrophy [DS:H00068]
K03884	Mitochondrial complex I deficiency [DS:H00473]
K03884	MELAS Syndrome [DS:H01347]
K03884	Kearns-Sayre syndrome [DS:H01355]
K03884	Leber hereditary optic neuropathy and dystonia [DS:H01365]
K03899	Hemophilia [DS:H00219]
K03900	Hemophilia [DS:H00219]
K03900	Macrothrombocytopenia [DS:H01740]
K03900	von Willebrand disease [DS:H02092]
K03902	Factor V deficiency [DS:H00220]
K03902	Inherited thrombophilia [DS:H00223]
K03902	Budd-Chiari syndrome [DS:H01433]
K03903	Afibrinogenemia [DS:H00222]
K03903	Inherited thrombophilia [DS:H00223]
K03903	Familial amyloidosis [DS:H00845]
K03904	Afibrinogenemia [DS:H00222]
K03904	Inherited thrombophilia [DS:H00223]
K03905	Afibrinogenemia [DS:H00222]
K03905	Inherited thrombophilia [DS:H00223]
K03906	Factor XIII deficiency [DS:H00945]
K03907	Inherited thrombophilia [DS:H00223]
K03907	Atypical hemolytic uremic syndrome [DS:H01434]
K03908	Inherited thrombophilia [DS:H00223]
K03908	Deep vein thrombosis [DS:H01723]
K03911	Inherited thrombophilia [DS:H00223]
K03911	Antithrombin III deficiency [DS:H01381]
K03911	Deep vein thrombosis [DS:H01723]
K03912	Inherited thrombophilia [DS:H00223]
K03917	Factor XIII deficiency [DS:H00945]
K03934	Mitochondrial complex I deficiency [DS:H00473]
K03935	Mitochondrial complex I deficiency [DS:H00473]
K03936	Mitochondrial complex I deficiency [DS:H00473]
K03936	Leigh syndrome [DS:H01354]
K03937	Mitochondrial complex I deficiency [DS:H00473]
K03937	Leigh syndrome [DS:H01354]
K03939	Mitochondrial complex I deficiency [DS:H00473]
K03940	Mitochondrial complex I deficiency [DS:H00473]
K03940	Leigh syndrome [DS:H01354]
K03941	Mitochondrial complex I deficiency [DS:H00473]
K03941	Leigh syndrome [DS:H01354]
K03942	Mitochondrial complex I deficiency [DS:H00473]
K03943	Mitochondrial complex I deficiency [DS:H00473]
K03945	Mitochondrial complex I deficiency [DS:H00473]
K03946	Mitochondrial complex I deficiency [DS:H00473]
K03946	Leigh syndrome [DS:H01354]
K03950	Mitochondrial complex I deficiency [DS:H00473]
K03953	Mitochondrial complex I deficiency [DS:H00473]
K03953	Leigh syndrome [DS:H01354]
K03954	Mitochondrial complex I deficiency [DS:H00473]
K03954	Leigh syndrome [DS:H01354]
K03956	Mitochondrial complex I deficiency [DS:H00473]
K03959	Mitochondrial complex I deficiency [DS:H00473]
K03964	Mitochondrial complex I deficiency [DS:H00473]
K03965	Mitochondrial complex I deficiency [DS:H00473]
K03966	Mitochondrial complex I deficiency [DS:H00473]
K03982	Inherited thrombophilia [DS:H00223]
K03982	Plasminogen activator inhibitor type 1 deficiency [DS:H01106]
K03982	Avascular necrosis of femoral head [DS:H01529]
K03982	Glucocorticoid-induced osteonecrosis [DS:H01709]
K03983	Alpha-2-plasmin inhibitor (a2-PI) deficiency [DS:H00983]
K03984	Alpha-1-antitrypsin deficiency [DS:H01103]
K03984	Chronic obstructive pulmonary disease (COPD) [DS:H01714]
K03986	Classic complement pathway component defects [DS:H00102]
K03986	Allergic contact dermatitis [DS:H01357]
K03987	Classic complement pathway component defects [DS:H00102]
K03988	Classic complement pathway component defects [DS:H00102]
K03989	Systemic lupus erythematosus [DS:H00080]
K03989	Classic complement pathway component defects [DS:H00102]
K03989	Schizophrenia [DS:H01649]
K03990	Classic complement pathway component defects [DS:H00102]
K03990	Age-related macular degeneration [DS:H00821]
K03990	Atypical hemolytic uremic syndrome [DS:H01434]
K03991	Mannose-binding lectin pathway component defects [DS:H00105]
K03991	Tuberculosis [DS:H00342]
K03992	3MC syndrome [DS:H01887]
K03993	Mannose-binding lectin pathway component defects [DS:H00105]
K03994	Late complement pathway defects [DS:H00103]
K03995	Late complement pathway defects [DS:H00103]
K03996	Late complement pathway defects [DS:H00103]
K03997	Late complement pathway defects [DS:H00103]
K03998	Late complement pathway defects [DS:H00103]
K03999	Late complement pathway defects [DS:H00103]
K04000	Late complement pathway defects [DS:H00103]
K04001	Complement regulatory protein defects [DS:H00106]
K04001	Hereditary angioedema [DS:H01006]
K04002	Complement regulatory protein defects [DS:H00106]
K04003	Complement regulatory protein defects [DS:H00106]
K04004	Alternative complement pathway component defects [DS:H00104]
K04004	Age-related macular degeneration [DS:H00821]
K04004	Familial flecked retina syndrome [DS:H00825]
K04004	Atypical hemolytic uremic syndrome [DS:H01434]
K04004	Membranoproliferative glomerulonephritis [DS:H01726]
K04004	Basal laminar drusen [DS:H02108]
K04006	Complement regulatory protein defects [DS:H00106]
K04007	Atypical hemolytic uremic syndrome [DS:H01434]
K04008	Complement regulatory protein defects [DS:H00106]
K04012	Common variable immunodeficiency [DS:H00088]
K04043	EVEN-plus syndrome [DS:H02343]
K04077	Hereditary spastic paraplegia [DS:H00266]
K04077	Hypomyelinating leukodystrophy [DS:H00679]
K04131	Prune belly syndrome [DS:H02129]
K04142	Asthma [DS:H00079]
K04142	Genetic obesity [DS:H02106]
K04143	Genetic obesity [DS:H02106]
K04145	Alcohol dependence [DS:H01611]
K04146	Essential tremor [DS:H01577]
K04146	Schizophrenia [DS:H01649]
K04147	Obsessive-compulsive disorder [DS:H01450]
K04147	Neurosis [DS:H01671]
K04147	Attention deficit hyperactivity disorder (ADHD) [DS:H01895]
K04153	Eating Disorders [DS:H01703]
K04157	Obsessive-compulsive disorder [DS:H01450]
K04157	Alcohol dependence [DS:H01611]
K04157	Major depressive disorder [DS:H01646]
K04157	Schizophrenia [DS:H01649]
K04166	Renal tubular dysgenesis [DS:H00575]
K04176	Allergic rhinitis [DS:H01360]
K04177	Allergic rhinitis [DS:H01360]
K04178	Allergic rhinitis [DS:H01360]
K04180	Allergic rhinitis [DS:H01360]
K04181	Systemic sclerosis [DS:H01492]
K04189	Chemokine receptor defect [DS:H00097]
K04192	Age-related macular degeneration [DS:H00821]
K04192	Coronary artery disease [DS:H01742]
K04193	Allergic rhinitis [DS:H01360]
K04197	Mandibulofacial dysostosis with alopecia [DS:H02126]
K04198	Nasopharyngeal cancer [DS:H00054]
K04198	Waardenburg syndrome [DS:H00759]
K04198	ABCD syndrome [DS:H00823]
K04198	Hirschsprung disease [DS:H00910]
K04199	Oculocutaneous albinism [DS:H00168]
K04200	Adrenal carcinoma [DS:H00033]
K04200	Familial glucocorticoid deficiency [DS:H00256]
K04200	Cushing syndrome [DS:H01431]
K04200	Bilateral macronodular adrenal hyperplasia [DS:H02049]
K04201	Genetic obesity [DS:H02106]
K04202	Genetic obesity [DS:H02106]
K04213	Eating Disorders [DS:H01703]
K04215	Alcohol dependence [DS:H01611]
K04224	Hypogonadotropic hypogonadism [DS:H00255]
K04228	Congenital nephrogenic diabetes insipidus [DS:H00252]
K04228	Nephrogenic syndrome of inappropriate antidiuresis [DS:H01294]
K04228	Syndrome of inappropriate secretion of antidiuretic hormone [DS:H01682]
K04228	Disorders of antidiuretic hormone (ADH) secretion [DS:H01683]
K04247	Ovarian dysgenesis [DS:H00599]
K04247	Ovarian hyperstimulation syndrome [DS:H01039]
K04248	46,XY disorder of sex development due to testosterone secretion defect [DS:H00608]
K04248	Precocious puberty [DS:H00937]
K04248	Familial male-limited precocious puberty [DS:H02019]
K04249	Congenital nongoitrous hypothyroidism (CHNG) [DS:H00250]
K04249	Congenital hyperthyroidism [DS:H01269]
K04250	Retinitis pigmentosa [DS:H00527]
K04250	Congenital stationary night blindness [DS:H00787]
K04250	Familial flecked retina syndrome [DS:H00825]
K04251	Blue cone monochromacy [DS:H00974]
K04251	Colorblindness [DS:H00976]
K04252	Colorblindness [DS:H00976]
K04254	Retinitis pigmentosa [DS:H00527]
K04259	Asthma with nasal polyps and aspirin intolerance [DS:H01191]
K04264	Bleeding disorder platelet-type [DS:H01235]
K04273	Woolly hair [DS:H00667]
K04273	Localized autosomal recessive hypotrichosis [DS:H00784]
K04273	Hypotrichosis [DS:H00786]
K04280	Hypogonadotropic hypogonadism [DS:H00255]
K04281	Peeling skin syndrome [DS:H00737]
K04282	Congenital nongoitrous hypothyroidism (CHNG) [DS:H00250]
K04282	Hypopituitarism [DS:H01700]
K04284	Growth hormone deficiency [DS:H00254]
K04286	Type 2 diabetes mellitus [DS:H00409]
K04292	Deafness, autosomal recessive [DS:H00605]
K04298	Bleeding disorder platelet-type [DS:H01235]
K04309	Osteoporosis [DS:H01593]
K04344	Spinocerebellar ataxia (SCA) [DS:H00063]
K04344	Early infantile epileptic encephalopathy [DS:H00606]
K04344	Episodic ataxias [DS:H00749]
K04344	Hemiplegic migraine [DS:H00775]
K04344	Hemiconvulsion-hemiplegia-epilepsy syndrome [DS:H01808]
K04345	Cushing syndrome [DS:H01431]
K04345	Macrothrombocytopenia [DS:H01740]
K04345	Bilateral macronodular adrenal hyperplasia [DS:H02049]
K04345	Cardioacrofacial dysplasia [DS:H02506]
K04346	Diffuse large B-cell lymphoma, not otherwise specified [DS:H02434]
K04348	Infantile or early childhood epileptic encephalopathy [DS:H02150]
K04352	Parkes Weber syndrome [DS:H00532]
K04352	Capillary malformation-arteriovenous malformation [DS:H02043]
K04354	Spinocerebellar ataxia (SCA) [DS:H00063]
K04355	Congenital central hypoventilation syndrome [DS:H00916]
K04355	Obsessive-compulsive disorder [DS:H01450]
K04355	Eating Disorders [DS:H01703]
K04357	Colorectal cancer [DS:H00020]
K04357	Hypomagnesemia [DS:H01210]
K04358	Kaposi sarcoma [DS:H00041]
K04358	Hypogonadotropic hypogonadism [DS:H00255]
K04358	Multiple synostosis syndrome [DS:H00484]
K04358	Lacrimo-auriculo-dento-digital syndrome [DS:H00642]
K04358	Aplasia of lacrimal and salivary glands [DS:H00677]
K04358	Renal hypodysplasia and aplasia [DS:H00822]
K04358	Potter syndrome [DS:H01728]
K04358	Metacarpal 4-5 fusion [DS:H01854]
K04358	Trichomegaly [DS:H01905]
K04358	Congenital deafness with inner ear agenesis, microtia, and microdontia [DS:H02286]
K04359	Malignant pleural mesothelioma [DS:H00015]
K04359	Glioma [DS:H00042]
K04360	Neuroblastoma [DS:H00043]
K04360	Early infantile epileptic encephalopathy [DS:H00606]
K04361	Non-small cell lung cancer [DS:H00014]
K04361	Oral cancer [DS:H00016]
K04361	Esophageal cancer [DS:H00017]
K04361	Bladder cancer [DS:H00022]
K04361	Choriocarcinoma [DS:H00028]
K04361	Cervical cancer [DS:H00030]
K04361	Breast cancer [DS:H00031]
K04361	Glioma [DS:H00042]
K04361	Laryngeal cancer [DS:H00055]
K04361	Salivary gland cancer [DS:H01508]
K04361	Oropharyngeal cancer [DS:H01559]
K04361	Neonatal inflammatory skin and bowel disease [DS:H02467]
K04362	Breast cancer [DS:H00031]
K04362	Hypogonadotropic hypogonadism [DS:H00255]
K04362	Osteoglophonic dysplasia [DS:H00443]
K04362	Syndromic craniosynostoses [DS:H00458]
K04362	Trigonocephaly [DS:H01207]
K04362	Pfeiffer syndrome [DS:H01756]
K04362	Hartsfield syndrome [DS:H01850]
K04362	Jackson-Weiss syndrome [DS:H01988]
K04363	Glioma [DS:H00042]
K04363	Chronic eosinophilic leukemia [DS:H01590]
K04363	Gastrotintestinal stromal tumor [DS:H01591]
K04363	Hypereosinophilic syndrome [DS:H01599]
K04365	Thyroid cancer [DS:H00032]
K04365	Melanoma [DS:H00038]
K04365	Noonan syndrome and related disorders [DS:H00523]
K04365	Langerhans cell histiocytosis [DS:H01512]
K04365	Noonan syndrome [DS:H01738]
K04365	Cardiofaciocutaneous syndrome [DS:H01745]
K04365	Leopard syndrome [DS:H01984]
K04365	Erdheim-Chester disease [DS:H02425]
K04366	Dilated cardiomyopathy [DS:H00294]
K04366	Leopard syndrome [DS:H01984]
K04368	Noonan syndrome and related disorders [DS:H00523]
K04368	Langerhans cell histiocytosis [DS:H01512]
K04368	Cardiofaciocutaneous syndrome [DS:H01745]
K04368	Erdheim-Chester disease [DS:H02425]
K04369	Noonan syndrome and related disorders [DS:H00523]
K04369	Cardiofaciocutaneous syndrome [DS:H01745]
K04369	Erdheim-Chester disease [DS:H02425]
K04371	Noonan syndrome [DS:H01738]
K04373	X-linked mental retardation [DS:H00480]
K04373	Coffin-Lowry syndrome [DS:H00574]
K04376	Prostate cancer [DS:H00024]
K04377	B-cell acute lymphoblastic leukemia [DS:H00001]
K04377	T-cell acute lymphoblastic leukemia [DS:H00002]
K04377	Burkitt lymphoma [DS:H00008]
K04377	Multiple myeloma [DS:H00010]
K04377	Small cell lung cancer [DS:H00013]
K04377	Oral cancer [DS:H00016]
K04377	Penile cancer [DS:H00025]
K04377	Ovarian cancer [DS:H00027]
K04377	Choriocarcinoma [DS:H00028]
K04377	Osteosarcoma [DS:H00036]
K04377	Kaposi sarcoma [DS:H00041]
K04377	Hepatocellular carcinoma [DS:H00048]
K04377	Laryngeal cancer [DS:H00055]
K04377	Mycosis fungoides [DS:H01463]
K04377	Tonsillar cancer [DS:H01509]
K04377	Fallopian tube cancer [DS:H01554]
K04377	Medulloblastoma [DS:H01667]
K04377	Diffuse large B-cell lymphoma, not otherwise specified [DS:H02434]
K04380	Amyotrophic lateral sclerosis (ALS) [DS:H00058]
K04380	Progressive supranuclear palsy [DS:H00077]
K04380	Frontotemporal lobar degeneration [DS:H00078]
K04382	Neurodevelopmental disorder with structural brain abnormalities [DS:H02470]
K04383	Graft-versus-host disease [DS:H00084]
K04383	Systemic sclerosis [DS:H01492]
K04385	Oligodontia-colorectal cancer syndrome [DS:H00857]
K04385	Medulloblastoma [DS:H01667]
K04385	Hepatoblastoma [DS:H02302]
K04386	Systemic sclerosis [DS:H01492]
K04388	Colorectal cancer [DS:H00020]
K04388	Hepatocellular carcinoma [DS:H00048]
K04388	Loeys-Dietz syndrome [DS:H00800]
K04388	Familial thoracic aortic aneurysm and dissection [DS:H00801]
K04389	Autoimmune lymphoproliferative syndromes [DS:H00108]
K04390	Chronic lymphocytic leukemia [DS:H00005]
K04390	Hodgkin lymphoma [DS:H00007]
K04390	Adult T-cell leukemia [DS:H00009]
K04390	Esophageal cancer [DS:H00017]
K04390	Autoimmune lymphoproliferative syndromes [DS:H00108]
K04390	Mycosis fungoides [DS:H01463]
K04391	Asthma [DS:H00079]
K04391	Allergic rhinitis [DS:H01360]
K04392	Autosomal dominant mental retardation [DS:H00773]
K04398	Autoimmune lymphoproliferative syndromes [DS:H00108]
K04400	Autoimmune lymphoproliferative syndromes [DS:H00108]
K04401	Autosomal recessive congenital ichthyosis [DS:H00734]
K04404	Congenital heart defects, multiple type [DS:H02199]
K04409	Syndromic intellectual developmental disorder [DS:H02463]
K04416	46,XY gonadal dysgenesis [DS:H00607]
K04424	Split-hand/foot malformation [DS:H00471]
K04424	Centronuclear myopathy [DS:H00700]
K04427	Cardiospondylocarpofacial syndrome [DS:H02226]
K04427	Frontometaphyseal dysplasia [DS:H02227]
K04436	Neurodevelopmental disorder with structural brain abnormalities [DS:H02470]
K04437	Periventricular nodular heterotopia [DS:H00270]
K04437	Fronto-otopalatodigital syndromes [DS:H00456]
K04437	Spondylocarpotarsal synostosis syndrome [DS:H00499]
K04437	Distal myopathy [DS:H00594]
K04437	Myofibrillar myopathies [DS:H00595]
K04437	FG syndrome [DS:H00894]
K04437	Chronic idiopathic intestinal pseudo-obstruction [DS:H01276]
K04437	Macrothrombocytopenia [DS:H01740]
K04437	Larsen syndrome [DS:H02048]
K04437	Atelosteogenesis type I and III [DS:H02064]
K04437	Boomerang dysplasia [DS:H02067]
K04437	Frontometaphyseal dysplasia [DS:H02227]
K04437	Terminal osseous dysplasia [DS:H02229]
K04437	X-linked cardiac valvular dysplasia [DS:H02230]
K04440	Lennox-Gastaut syndrome [DS:H01813]
K04444	Pattern dystrophies of the retinal pigment epithelium [DS:H01890]
K04447	Polycythemia vera [DS:H00012]
K04447	Budd-Chiari syndrome [DS:H01433]
K04447	Myelodysplastic syndrome [DS:H01481]
K04447	Myelofibrosis [DS:H01605]
K04447	Essential thrombocytosis [DS:H01612]
K04447	Myelodysplastic/myeloproliferative neoplasms [DS:H02410]
K04447	Chronic myelomonocytic leukemia [DS:H02411]
K04447	Atypical chronic myeloid leukemia [DS:H02412]
K04451	Chronic myeloid leukemia [DS:H00004]
K04451	Chronic lymphocytic leukemia [DS:H00005]
K04451	Hairy cell leukemia [DS:H00006]
K04451	Burkitt lymphoma [DS:H00008]
K04451	Adult T-cell leukemia [DS:H00009]
K04451	Multiple myeloma [DS:H00010]
K04451	Small cell lung cancer [DS:H00013]
K04451	Non-small cell lung cancer [DS:H00014]
K04451	Malignant pleural mesothelioma [DS:H00015]
K04451	Oral cancer [DS:H00016]
K04451	Esophageal cancer [DS:H00017]
K04451	Gastric cancer [DS:H00018]
K04451	Pancreatic cancer [DS:H00019]
K04451	Colorectal cancer [DS:H00020]
K04451	Bladder cancer [DS:H00022]
K04451	Penile cancer [DS:H00025]
K04451	Endometrial cancer [DS:H00026]
K04451	Ovarian cancer [DS:H00027]
K04451	Choriocarcinoma [DS:H00028]
K04451	Vulvar cancer [DS:H00029]
K04451	Breast cancer [DS:H00031]
K04451	Thyroid cancer [DS:H00032]
K04451	Adrenal carcinoma [DS:H00033]
K04451	Osteosarcoma [DS:H00036]
K04451	Melanoma [DS:H00038]
K04451	Basal cell carcinoma [DS:H00039]
K04451	Squamous cell carcinoma [DS:H00040]
K04451	Kaposi sarcoma [DS:H00041]
K04451	Glioma [DS:H00042]
K04451	Cancer of the anal canal [DS:H00044]
K04451	Cholangiocarcinoma [DS:H00046]
K04451	Gallbladder cancer [DS:H00047]
K04451	Hepatocellular carcinoma [DS:H00048]
K04451	Laryngeal cancer [DS:H00055]
K04451	Li-Fraumeni syndrome [DS:H00881]
K04451	Choroid plexus papilloma [DS:H01007]
K04451	Mycosis fungoides [DS:H01463]
K04451	Mantle cell lymphoma [DS:H01464]
K04451	Giant cell tumor of bone [DS:H01470]
K04451	Myelodysplastic syndrome [DS:H01481]
K04451	Fallopian tube cancer [DS:H01554]
K04451	Merkel cell carcinoma [DS:H01555]
K04451	Hepatic angiosarcoma [DS:H01557]
K04451	Oropharyngeal cancer [DS:H01559]
K04451	Medulloblastoma [DS:H01667]
K04451	Nephroblastoma [DS:H02301]
K04451	Chronic myelomonocytic leukemia [DS:H02411]
K04451	Diffuse large B-cell lymphoma, not otherwise specified [DS:H02434]
K04452	Myxoid liposarcoma [DS:H00049]
K04453	Malignant paraganglioma [DS:H01510]
K04454	Autosomal dominant mental retardation [DS:H00773]
K04454	Mental retardation-stereotypic movements-epilepsy and/or cerebral malformations [DS:H01223]
K04455	Distal hereditary motor neuropathies [DS:H00856]
K04456	Ovarian cancer [DS:H00027]
K04456	Familial partial lipodystrophy [DS:H00420]
K04456	Cowden syndrome [DS:H01222]
K04456	Meningioma [DS:H01556]
K04456	Schizophrenia [DS:H01649]
K04456	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome [DS:H01885]
K04456	Hypoinsulinemic hypoglycemia with hemihypertrophy [DS:H01909]
K04456	Proteus syndrome [DS:H02119]
K04462	Chronic myeloid leukemia [DS:H00004]
K04462	Radioulnar synostosis with amegakaryocytic thrombocytopenia [DS:H00867]
K04467	Cocoon syndrome [DS:H00882]
K04469	Common variable immunodeficiency [DS:H00088]
K04482	Fanconi anemia [DS:H00238]
K04482	Congenital mirror movements [DS:H01287]
K04491	Type 2 diabetes mellitus [DS:H00409]
K04494	Autism [DS:H02111]
K04495	Vesicoureteral reflux [DS:H01037]
K04496	4p deletion syndrome [DS:H01773]
K04497	Preimplantation embryonic lethality [DS:H02335]
K04498	Rubinstein-Taybi syndrome [DS:H00504]
K04498	Follicular lymphoma [DS:H01613]
K04498	Diffuse large B-cell lymphoma, not otherwise specified [DS:H02434]
K04500	Colorectal cancer [DS:H00020]
K04501	Pancreatic cancer [DS:H00019]
K04501	Colorectal cancer [DS:H00020]
K04501	Hereditary hemorrhagic telangiectasia [DS:H00533]
K04501	Juvenile polyposis syndrome [DS:H01023]
K04501	Myhre syndrome [DS:H02102]
K04503	Hairy cell leukemia [DS:H00006]
K04503	Multiple myeloma [DS:H00010]
K04503	Oral cancer [DS:H00016]
K04503	Esophageal cancer [DS:H00017]
K04503	Breast cancer [DS:H00031]
K04503	Laryngeal cancer [DS:H00055]
K04503	von Hippel-Lindau syndrome [DS:H00559]
K04503	Mantle cell lymphoma [DS:H01464]
K04505	Alzheimer disease [DS:H00056]
K04505	Frontotemporal lobar degeneration [DS:H00078]
K04505	Dilated cardiomyopathy [DS:H00294]
K04505	Acne inversa [DS:H00681]
K04508	Congenital nongoitrous hypothyroidism (CHNG) [DS:H00250]
K04508	Autosomal dominant mental retardation [DS:H00773]
K04508	Pierpont syndrome [DS:H02334]
K04508	Deafness, Y-linked [DS:H02336]
K04510	Spina bifida [DS:H00262]
K04510	Caudal regression syndrome and Sirenomelia [DS:H00979]
K04511	Progressive myoclonic epilepsy [DS:H00810]
K04513	Ectodermal dysplasia [DS:H02456]
K04515	Autosomal recessive mental retardation [DS:H00768]
K04515	Autosomal dominant mental retardation [DS:H00773]
K04519	Systemic sclerosis [DS:H01492]
K04520	Alzheimer disease [DS:H00056]
K04520	Cerebral amyloid angiopathy [DS:H01185]
K04522	Alzheimer disease [DS:H00056]
K04522	Dilated cardiomyopathy [DS:H00294]
K04523	Amyotrophic lateral sclerosis (ALS) [DS:H00058]
K04524	Alzheimer disease [DS:H00056]
K04524	Hyperlipoproteinemia, type III [DS:H00156]
K04524	Lipoprotein glomerulopathy [DS:H00887]
K04524	Sea-blue histiocyte disease [DS:H01168]
K04524	Hypertriglyceridemia [DS:H01637]
K04525	Corticosteroid-binding globulin (CBG) deficiency [DS:H01163]
K04526	Type 1 diabetes mellitus [DS:H00408]
K04526	Maturity onset diabetes of the young (MODY) [DS:H00410]
K04526	Permanent neonatal diabetes mellitus [DS:H00512]
K04527	Leprechaunism [DS:H00719]
K04527	Rabson-Mendenhall syndrome [DS:H00942]
K04527	Insulin-resistant diabetes mellitus with acanthosis nigricans [DS:H01228]
K04527	Familial hyperinsulinemic hypoglycemia [DS:H01267]
K04528	Parkinson disease [DS:H00057]
K04528	Lewy body dementia (LBD) [DS:H00066]
K04528	Parkinsonian syndrome [DS:H01600]
K04533	Huntington disease [DS:H00059]
K04534	Early infantile epileptic encephalopathy [DS:H00606]
K04536	Autosomal dominant mental retardation [DS:H00773]
K04538	Charcot-Marie-Tooth disease [DS:H00264]
K04539	Syndromic intellectual developmental disorder [DS:H02463]
K04556	Parkinson disease [DS:H00057]
K04556	Leprosy [DS:H00344]
K04556	Parkinsonian syndrome [DS:H01600]
K04560	Williams-Beuren syndrome [DS:H01439]
K04564	Diabetic nephropathy [DS:H01456]
K04565	Amyotrophic lateral sclerosis (ALS) [DS:H00058]
K04567	Charcot-Marie-Tooth disease [DS:H00264]
K04567	Deafness, autosomal recessive [DS:H00605]
K04571	Congenital disorders of glycosylation type I [DS:H00118]
K04572	Charcot-Marie-Tooth disease [DS:H00264]
K04574	Amyotrophic lateral sclerosis (ALS) [DS:H00058]
K04574	Charcot-Marie-Tooth disease [DS:H00264]
K04575	Amyotrophic lateral sclerosis (ALS) [DS:H00058]
K04575	Juvenile primary lateral sclerosis [DS:H00970]
K04575	Infantile ascending hereditary spastic paralysis [DS:H01172]
K04576	Osteoporosis [DS:H01593]
K04577	Lymphatic malformation [DS:H00535]
K04584	Growth hormone deficiency [DS:H00254]
K04584	Isolated growth hormone deficiency [DS:H02035]
K04585	Metaphyseal dysplasias [DS:H00479]
K04585	Eiken dysplasia [DS:H00495]
K04585	Blomstrand syndrome [DS:H00508]
K04585	Primary failure of tooth eruption [DS:H00680]
K04603	Spinocerebellar ataxia (SCA) [DS:H00063]
K04603	Autosomal recessive spinocerebellar ataxias [DS:H01891]
K04608	Congenital stationary night blindness [DS:H00787]
K04609	Neurodevelopmental disorder with structural brain abnormalities [DS:H02470]
K04612	Bartter syndrome [DS:H00239]
K04612	Calcium sensing receptor (CASR) related disease [DS:H00245]
K04612	Primary hyperparathyroidism [DS:H00246]
K04612	Idiopathic generalized epilepsies [DS:H00808]
K04612	Parathyroid carcinoma [DS:H01558]
K04612	Familial hypocalciuric hypercalcemia [DS:H02026]
K04612	Neonatal hyperparathyroidism [DS:H02030]
K04615	Early infantile epileptic encephalopathy [DS:H00606]
K04630	Adrenal carcinoma [DS:H00033]
K04630	Auriculocondylar syndrome [DS:H01884]
K04630	Familial ventricular tachycardia [DS:H02269]
K04631	Congenital stationary night blindness [DS:H00787]
K04631	Achromatopsia [DS:H00971]
K04632	Pseudohypoparathyroidism [DS:H00244]
K04632	Progressive osseous heteroplasia [DS:H00441]
K04632	Fibrous dysplasia, polyostotic [DS:H00501]
K04632	Pituitary adenomas [DS:H01102]
K04632	Cushing syndrome [DS:H01431]
K04632	Acromegaly [DS:H01483]
K04632	Bilateral macronodular adrenal hyperplasia [DS:H02049]
K04633	Primary dystonia [DS:H00831]
K04634	Sturge-Weber syndrome [DS:H01809]
K04635	Familial hypocalciuric hypercalcemia [DS:H02026]
K04638	Oral-facial-digital syndrome [DS:H00454]
K04639	Diffuse large B-cell lymphoma, not otherwise specified [DS:H02434]
K04646	Autosomal dominant mental retardation [DS:H00773]
K04648	Amyotrophic lateral sclerosis (ALS) [DS:H00058]
K04648	Distal hereditary motor neuropathies [DS:H00856]
K04648	Perry syndrome [DS:H00879]
K04658	Brachydactyly [DS:H00482]
K04658	Multiple synostosis syndrome [DS:H00484]
K04658	Tarsal-carpal coalition syndrome [DS:H00778]
K04658	Proximal symphalangism [DS:H00851]
K04658	Stapes ankylosis with broad thumb and toes [DS:H00868]
K04659	Multiple epiphyseal dysplasia [DS:H00476]
K04659	Pseudoachondroplasia [DS:H00477]
K04660	Congenital stromal corneal dystrophy [DS:H00958]
K04662	Cleft lip and/or cleft palate [DS:H00516]
K04662	Microphthalmia, syndromic [DS:H02170]
K04664	Grebe dysplasia [DS:H00466]
K04664	Fibular hypoplasia and complex brachydactyly [DS:H00467]
K04664	Brachydactyly [DS:H00482]
K04664	Angel shaped phalangoepiphyseal dysplasia [DS:H00483]
K04664	Multiple synostosis syndrome [DS:H00484]
K04664	Proximal symphalangism [DS:H00851]
K04665	Persistent Mullerian duct syndrome [DS:H00609]
K04666	Heterotaxy [DS:H00632]
K04671	Primary pulmonary hypertension [DS:H01619]
K04671	Pulmonary arterial hypertension [DS:H01621]
K04671	Pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis [DS:H01866]
K04672	Persistent Mullerian duct syndrome [DS:H00609]
K04673	Juvenile polyposis syndrome [DS:H01023]
K04673	Hereditary mixed polyposis syndrome [DS:H01024]
K04674	Gastric cancer [DS:H00018]
K04674	Loeys-Dietz syndrome [DS:H00800]
K04674	Familial thoracic aortic aneurysm and dissection [DS:H00801]
K04675	Fibrodysplasia ossificans progressiva [DS:H00430]
K04677	Aortic valve disease [DS:H00554]
K04685	Malignant pleural mesothelioma [DS:H00015]
K04685	Osteosarcoma [DS:H00036]
K04685	Type 2 diabetes mellitus [DS:H00409]
K04685	Mycosis fungoides [DS:H01463]
K04685	Meningioma [DS:H01556]
K04685	Diffuse large B-cell lymphoma, not otherwise specified [DS:H02434]
K04686	Axenfeld-Rieger syndrome [DS:H00620]
K04686	Ring dermoid of cornea [DS:H01149]
K04686	Anterior segment dysgenesis [DS:H01159]
K04687	Allograft rejection [DS:H00083]
K04687	Graft-versus-host disease [DS:H00084]
K04687	Aplastic anemia [DS:H01132]
K04692	Oral cancer [DS:H00016]
K04692	Other well-defined immunodeficiency syndromes [DS:H00107]
K04692	Hyper-IgE syndrome [DS:H01968]
K04703	Legius syndrome [DS:H01986]
K04707	Noonan syndrome and related disorders [DS:H00523]
K04707	CBL syndrome [DS:H02190]
K04707	Myelodysplastic/myeloproliferative neoplasms [DS:H02410]
K04707	Chronic myelomonocytic leukemia [DS:H02411]
K04707	Atypical chronic myeloid leukemia [DS:H02412]
K04708	Erythrokeratodermia variabilis [DS:H00710]
K04710	Progressive myoclonic epilepsy [DS:H00810]
K04711	Early childhood-onset progressive leukodystrophy [DS:H02468]
K04712	Hypomyelinating leukodystrophy [DS:H00679]
K04714	Calvarial doughnut lesions with bone fragility [DS:H02395]
K04725	Other well-defined immunodeficiency syndromes [DS:H00107]
K04725	X-linked lymphoproliferative syndrome [DS:H01969]
K04727	Combined oxidative phosphorylation deficiency [DS:H00891]
K04727	Deafness, X-linked [DS:H01209]
K04727	Cowchock syndrome [DS:H02344]
K04728	Chronic lymphocytic leukemia [DS:H00005]
K04728	Ataxia telangiectasia [DS:H00064]
K04728	Immunodeficiency associated with DNA repair defects [DS:H00094]
K04729	Pyogenic bacterial infections, recurrent, due to MYD88 deficiency [DS:H00721]
K04729	Primary central nervous system lymphoma [DS:H02424]
K04729	Diffuse large B-cell lymphoma, not otherwise specified [DS:H02434]
K04731	Atopic dermatitis [DS:H01358]
K04733	Defects of toll-like receptor signaling [DS:H00096]
K04734	Hodgkin lymphoma [DS:H00007]
K04734	Ectodermal dysplasia associated immunodeficiency [DS:H00095]
K04738	Congenital pulmonary alveolar proteinosis [DS:H01122]
K04739	Pigmented micronodular adrenocortical disease [DS:H00260]
K04739	Pituitary adenomas [DS:H01102]
K04739	Cushing syndrome [DS:H01431]
K04739	Carney complex [DS:H01820]
K04739	Acrodysostosis [DS:H02211]
K04794	Infantile-onset multisystem neurologic, endocrine, and pancreatic disease [DS:H02391]
K04802	Ataxia-telangiectasia-like syndrome [DS:H02014]
K04803	Congenital myasthenic syndrome [DS:H00770]
K04803	Multiple pterygium syndrome [DS:H00986]
K04804	Nocturnal frontal lobe epilepsy [DS:H00807]
K04806	Nocturnal frontal lobe epilepsy [DS:H00807]
K04809	Chromosome 15q13.3 microdeletion syndrome [DS:H01877]
K04812	Congenital myasthenic syndrome [DS:H00770]
K04813	Nocturnal frontal lobe epilepsy [DS:H00807]
K04816	Congenital myasthenic syndrome [DS:H00770]
K04816	Multiple pterygium syndrome [DS:H00986]
K04817	Congenital myasthenic syndrome [DS:H00770]
K04818	Multiple pterygium syndrome [DS:H00986]
K04824	Liddle syndrome [DS:H00242]
K04824	Hyperkalemic distal renal tubular acidosis (RTA type 4) [DS:H00243]
K04824	Bronchiectasis with or without elevated sweat chloride [DS:H00892]
K04824	Renal tubular acidosis [DS:H02310]
K04825	Liddle syndrome [DS:H00242]
K04825	Hyperkalemic distal renal tubular acidosis (RTA type 4) [DS:H00243]
K04825	Bronchiectasis with or without elevated sweat chloride [DS:H00892]
K04825	High blood pressure [DS:H01633]
K04825	Renal tubular acidosis [DS:H02310]
K04827	Liddle syndrome [DS:H00242]
K04827	Hyperkalemic distal renal tubular acidosis (RTA type 4) [DS:H00243]
K04827	Bronchiectasis with or without elevated sweat chloride [DS:H00892]
K04827	High blood pressure [DS:H01633]
K04827	Renal tubular acidosis [DS:H02310]
K04833	Hemiplegic migraine [DS:H00775]
K04833	Febrile seizures [DS:H00783]
K04833	Malignant migrating partial seizures in infancy [DS:H01815]
K04833	Dravet syndrome [DS:H01818]
K04834	Early infantile epileptic encephalopathy [DS:H00606]
K04834	Benign familial infantile seizure [DS:H02362]
K04836	Early infantile epileptic encephalopathy [DS:H00606]
K04836	Familial focal epilepsy with variable foci [DS:H02214]
K04837	Periodic paralysis [DS:H00215]
K04837	Paramyotonia congenita [DS:H00743]
K04837	Potassium-aggravated myotonia [DS:H00744]
K04837	Hyperkalemic periodic paralysis (HyperPP) [DS:H00745]
K04837	Hypokalemic periodic paralysis (HypoPP) [DS:H00746]
K04837	Congenital myasthenic syndrome [DS:H00770]
K04837	Non-dystrophic myotonia [DS:H01780]
K04838	Dilated cardiomyopathy [DS:H00294]
K04838	Long QT syndrome [DS:H00720]
K04838	Brugada syndrome [DS:H00728]
K04838	Sick sinus syndrome [DS:H00729]
K04838	Familial idiopathic ventricular fibrillation [DS:H00730]
K04838	Atrial fibrillation [DS:H00731]
K04838	Progressive cardiac conduction defect (PCCD) [DS:H01263]
K04840	Early infantile epileptic encephalopathy [DS:H00606]
K04840	Benign familial infantile seizure [DS:H02362]
K04841	Hereditary sensory and autonomic neuropathy [DS:H00265]
K04841	Inherited erythromelalgia [DS:H00771]
K04841	Paroxysmal extreme pain disorder [DS:H00772]
K04841	Congenital insensitivity to pain [DS:H00774]
K04841	Febrile seizures [DS:H00783]
K04842	Familial episodic pain syndrome [DS:H01391]
K04843	Hereditary sensory and autonomic neuropathy [DS:H00265]
K04843	Familial episodic pain syndrome [DS:H01391]
K04845	Early infantile epileptic encephalopathy [DS:H00606]
K04845	Brugada syndrome [DS:H00728]
K04845	Atrial fibrillation [DS:H00731]
K04845	Febrile seizures [DS:H00783]
K04846	Atrial fibrillation [DS:H00731]
K04847	Brugada syndrome [DS:H00728]
K04847	Atrial fibrillation [DS:H00731]
K04848	Long QT syndrome [DS:H00720]
K04848	Atrial fibrillation [DS:H00731]
K04849	Primary dystonia [DS:H00831]
K04850	Long QT syndrome [DS:H00720]
K04850	Brugada syndrome [DS:H00728]
K04851	Primary aldosteronism [DS:H01603]
K04852	Early infantile epileptic encephalopathy [DS:H00606]
K04853	Cone-rod dystrophy and cone dystrophy [DS:H00481]
K04853	Aland Island eye disease [DS:H00690]
K04853	Congenital stationary night blindness [DS:H00787]
K04854	Spinocerebellar ataxia (SCA) [DS:H00063]
K04855	Idiopathic generalized epilepsies [DS:H00808]
K04855	Primary aldosteronism [DS:H01603]
K04855	Childhood absence epilepsy [DS:H02215]
K04857	Periodic paralysis [DS:H00215]
K04857	Hypokalemic periodic paralysis (HypoPP) [DS:H00746]
K04861	Cone-rod dystrophy and cone dystrophy [DS:H00481]
K04863	Brugada syndrome [DS:H00728]
K04865	Episodic ataxias [DS:H00749]
K04865	Idiopathic generalized epilepsies [DS:H00808]
K04865	Juvenile myoclonic epilepsy [DS:H02217]
K04867	Autosomal dominant mental retardation [DS:H00773]
K04874	Episodic ataxias [DS:H00749]
K04875	Early infantile epileptic encephalopathy [DS:H00606]
K04877	Microcephaly syndrome [DS:H02132]
K04878	Atrial fibrillation [DS:H00731]
K04885	Early infantile epileptic encephalopathy [DS:H00606]
K04887	Progressive myoclonic epilepsy [DS:H00810]
K04889	Spinocerebellar ataxia (SCA) [DS:H00063]
K04893	Spinocerebellar ataxia (SCA) [DS:H00063]
K04893	Brugada syndrome [DS:H00728]
K04894	Long QT syndrome [DS:H00720]
K04894	Jervell and Lange-Nielsen syndrome [DS:H02091]
K04896	Long QT syndrome [DS:H00720]
K04896	Atrial fibrillation [DS:H00731]
K04897	Periodic paralysis [DS:H00215]
K04897	Brugada syndrome [DS:H00728]
K04904	Zimmermann-Laband syndrome [DS:H01573]
K04905	Long QT syndrome [DS:H00720]
K04905	Short QT syndrome [DS:H00725]
K04914	Pulmonary arterial hypertension [DS:H01621]
K04915	Syndromic intellectual developmental disorder [DS:H02463]
K04919	Birk Barel mental retardation syndrome (BBMRS) [DS:H00709]
K04926	Type 2 diabetes mellitus [DS:H00409]
K04926	Beckwith-Wiedemann syndrome [DS:H00713]
K04926	Long QT syndrome [DS:H00720]
K04926	Short QT syndrome [DS:H00725]
K04926	Atrial fibrillation [DS:H00731]
K04926	Jervell and Lange-Nielsen syndrome [DS:H02091]
K04927	Early infantile epileptic encephalopathy [DS:H00606]
K04927	Benign familial neonatal seizure [DS:H00806]
K04928	Benign familial neonatal seizure [DS:H00806]
K04929	Deafness, autosomal dominant [DS:H00604]
K04929	Bilateral sudden sensorineural hearing loss [DS:H01705]
K04930	Autosomal dominant mental retardation [DS:H00773]
K04935	Cone-rod dystrophy and cone dystrophy [DS:H00481]
K04936	Generalized epilepsy and paroxysmal dyskinesia [DS:H01258]
K04944	Zimmermann-Laband syndrome [DS:H01573]
K04945	Hereditary stomatocytosis [DS:H00232]
K04945	Dehydrated hereditary stomatocytosis [DS:H01978]
K04946	Nocturnal frontal lobe epilepsy [DS:H00807]
K04946	Malignant migrating partial seizures in infancy [DS:H01815]
K04947	Early infantile epileptic encephalopathy [DS:H00606]
K04948	Retinitis pigmentosa [DS:H00527]
K04950	Achromatopsia [DS:H00971]
K04952	Retinitis pigmentosa [DS:H00527]
K04953	Stargardt disease [DS:H00819]
K04953	Achromatopsia [DS:H00971]
K04954	Early infantile epileptic encephalopathy [DS:H00606]
K04957	Brugada syndrome [DS:H00728]
K04957	Sick sinus syndrome [DS:H00729]
K04958	Spinocerebellar ataxia (SCA) [DS:H00063]
K04959	Isolated anhidrosis with normal sweat glands [DS:H02281]
K04960	Type 1 diabetes mellitus [DS:H00408]
K04961	Central core disease [DS:H00699]
K04961	Multi-minicore disease [DS:H01310]
K04962	Arrhythmogenic right ventricular cardiomyopathy [DS:H00293]
K04962	Catecholaminergic polymorphic ventricular tachycardia [DS:H01019]
K04966	Spinocerebellar ataxia (SCA) [DS:H00063]
K04969	Focal segmental glomerulosclerosis [DS:H00626]
K04972	Focal nonepidermolytic palmoplantar keratoderma [DS:H02263]
K04973	Charcot-Marie-Tooth disease [DS:H00264]
K04973	Brachyolmia [DS:H00522]
K04973	Scapuloperoneal spinal muscular atrophy [DS:H00524]
K04973	Distal hereditary motor neuropathies [DS:H00856]
K04973	Familial digital arthropathy-brachydactyly [DS:H02062]
K04973	Parastremmatic dwarfism [DS:H02183]
K04973	Metatropic dysplasia [DS:H02184]
K04973	Spondylometaphyseal dysplasia [DS:H02185]
K04973	Spondyloepiphyseal dysplasia, Maroteaux type [DS:H02186]
K04975	Neonatal hyperparathyroidism [DS:H02030]
K04976	Congenital stationary night blindness [DS:H00787]
K04976	Chromosome 15q13.3 microdeletion syndrome [DS:H01877]
K04979	Erythrokeratodermia variabilis [DS:H00710]
K04979	Progressive cardiac conduction defect (PCCD) [DS:H01263]
K04981	Hypomagnesemia [DS:H01210]
K04982	Amyotrophic lateral sclerosis (ALS) [DS:H00058]
K04984	Familial episodic pain syndrome [DS:H01391]
K04985	Polycystic kidney disease [DS:H00542]
K04985	Potter syndrome [DS:H01728]
K04986	Polycystic kidney disease [DS:H00542]
K04986	Potter syndrome [DS:H01728]
K04987	Heterotaxy [DS:H00632]
K04992	Mucolipidosis IV [DS:H00144]
K04995	Bartter syndrome [DS:H00239]
K04996	Periodic paralysis [DS:H00215]
K04996	Long QT syndrome [DS:H00720]
K04996	Short QT syndrome [DS:H00725]
K04996	Atrial fibrillation [DS:H00731]
K04996	Andersen-Tawil syndrome [DS:H00748]
K04999	Long QT syndrome [DS:H00720]
K04999	Primary aldosteronism [DS:H01603]
K05000	Keppen-Lubinsky syndrome [DS:H02236]
K05003	Seizures-sensorineural deafness-ataxia-mental retardation-electrolyte imbalance (SESAME) [DS:H00803]
K05004	Type 2 diabetes mellitus [DS:H00409]
K05004	Maturity onset diabetes of the young (MODY) [DS:H00410]
K05004	Permanent neonatal diabetes mellitus [DS:H00512]
K05004	Transient neonatal diabetes mellitus [DS:H00513]
K05004	Familial hyperinsulinemic hypoglycemia [DS:H01267]
K05005	Thyrotoxic hypokalemic periodic paralysis [DS:H00747]
K05006	Vitreoretinal degeneration [DS:H00805]
K05006	Leber congenital amaurosis [DS:H00837]
K05006	Snowflake vitreoretinal degeneration [DS:H02077]
K05010	Myotonia congenita [DS:H00705]
K05010	Non-dystrophic myotonia [DS:H01780]
K05011	Idiopathic generalized epilepsies [DS:H00808]
K05011	Juvenile absence epilepsy [DS:H02216]
K05011	Juvenile myoclonic epilepsy [DS:H02217]
K05012	Hypophosphatemic rickets [DS:H00214]
K05012	X-linked mental retardation [DS:H00480]
K05012	Dent disease [DS:H00694]
K05012	X-linked recessive hypophosphatemic rickets [DS:H02142]
K05012	X-linked recessive nephrolithiasis with renal failure [DS:H02147]
K05012	Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis [DS:H02148]
K05012	X-linked hypercalciuric nephrolithiasis [DS:H02149]
K05016	Osteopetrosis [DS:H00436]
K05017	Bartter syndrome [DS:H00239]
K05018	Bartter syndrome [DS:H00239]
K05022	Syndromic X-linked mental retardation [DS:H00658]
K05025	Deafness, autosomal recessive [DS:H00605]
K05031	Cystic fibrosis [DS:H00218]
K05031	Hereditary pancreatitis [DS:H00933]
K05031	Congenital bilateral absence of vas deferens [DS:H01033]
K05032	Permanent neonatal diabetes mellitus [DS:H00512]
K05032	Transient neonatal diabetes mellitus [DS:H00513]
K05032	Familial hyperinsulinemic hypoglycemia [DS:H01267]
K05033	Dilated cardiomyopathy [DS:H00294]
K05033	Atrial fibrillation [DS:H00731]
K05034	Myoclonic-atonic epilepsy [DS:H02361]
K05035	Orthostatic intolerance [DS:H01031]
K05037	Obsessive-compulsive disorder [DS:H01450]
K05038	Hyperekplexia [DS:H00769]
K05038	Glycine encephalopathy with normal serum glycine [DS:H02419]
K05041	Cerebral creatine deficiency syndrome [DS:H00849]
K05041	X-linked creatine deficiency syndrome [DS:H02196]
K05043	Hyperbilirubinemia [DS:H00208]
K05043	Rotor syndrome [DS:H02057]
K05047	Genetic obesity [DS:H02106]
K05048	Autosomal recessive mental retardation [DS:H00768]
K05048	Iminoglycinuria [DS:H00905]
K05048	Hyperglycinuria [DS:H01304]
K05056	Craniosynostosis and dental anomalies [DS:H02254]
K05057	Primary localized cutaneous amyloidosis [DS:H01217]
K05058	Stuve-Wiedemann syndrome [DS:H00462]
K05060	Hyper-IgE syndrome [DS:H01968]
K05061	Myelodysplastic/myeloproliferative neoplasms [DS:H02410]
K05061	Atypical chronic myeloid leukemia [DS:H02412]
K05062	Leptin receptor deficiency [DS:H02060]
K05063	IFN-gamma/IL-12 axis [DS:H00089]
K05064	Behcet disease [DS:H01476]
K05065	Crohn disease [DS:H00286]
K05065	Inflammatory bowel disease (IBD) [DS:H01227]
K05065	Ulcerative colitis [DS:H01466]
K05065	Behcet disease [DS:H01476]
K05066	Congenital pulmonary alveolar proteinosis [DS:H01122]
K05068	T-B+Severe combined immunodeficiency [DS:H00091]
K05068	Type 1 diabetes mellitus [DS:H00408]
K05070	T-B+Severe combined immunodeficiency [DS:H00091]
K05070	Combined immunodeficiency [DS:H00093]
K05071	Asthma [DS:H00079]
K05071	Atopic dermatitis [DS:H01358]
K05072	T-B+Severe combined immunodeficiency [DS:H00091]
K05078	B-cell acute lymphoblastic leukemia [DS:H00001]
K05079	Congenital polycythemia [DS:H00236]
K05080	Growth hormone deficiency [DS:H00254]
K05080	Laron syndrome [DS:H02037]
K05081	Hyperprolactinemia [DS:H01388]
K05082	Congenital amegakaryocytic thrombocytopenia [DS:H00227]
K05082	Myelofibrosis [DS:H01605]
K05082	Essential thrombocytosis [DS:H01612]
K05083	Gastric cancer [DS:H00018]
K05083	Pancreatic cancer [DS:H00019]
K05083	Bladder cancer [DS:H00022]
K05083	Endometrial cancer [DS:H00026]
K05083	Ovarian cancer [DS:H00027]
K05083	Choriocarcinoma [DS:H00028]
K05083	Cervical cancer [DS:H00030]
K05083	Breast cancer [DS:H00031]
K05083	Cholangiocarcinoma [DS:H00046]
K05083	Salivary gland cancer [DS:H01508]
K05083	Fallopian tube cancer [DS:H01554]
K05084	Type 1 diabetes mellitus [DS:H00408]
K05084	Lethal congenital contractural syndrome [DS:H00865]
K05085	Amyotrophic lateral sclerosis (ALS) [DS:H00058]
K05087	Malignant pleural mesothelioma [DS:H00015]
K05087	Hepatocellular carcinoma [DS:H00048]
K05087	Synovial sarcoma [DS:H00050]
K05087	Growth delay due to insulin-like growth factor I resistance [DS:H01274]
K05088	Non-small cell lung cancer [DS:H00014]
K05089	Glioma [DS:H00042]
K05089	Familial idiopathic basal ganglia calcification [DS:H01574]
K05089	Infantile myofibromatosis [DS:H01910]
K05090	Choriocarcinoma [DS:H00028]
K05090	Hereditary diffuse leukoencephalopathy with spheroids [DS:H01807]
K05091	Acute myeloid leukemia [DS:H00003]
K05091	Breast cancer [DS:H00031]
K05091	Piebaldism [DS:H00170]
K05091	Anaphylaxis [DS:H01359]
K05091	Mast-cell leukemia [DS:H01511]
K05091	Gastrotintestinal stromal tumor [DS:H01591]
K05092	Acute myeloid leukemia [DS:H00003]
K05092	Chronic myelomonocytic leukemia [DS:H02411]
K05092	Atypical chronic myeloid leukemia [DS:H02412]
K05093	Gastric cancer [DS:H00018]
K05093	Syndromic craniosynostoses [DS:H00458]
K05093	Lacrimo-auriculo-dento-digital syndrome [DS:H00642]
K05093	Antley-Bixler syndrome [DS:H01753]
K05093	Crouzon syndrome [DS:H01754]
K05093	Apert syndrome [DS:H01755]
K05093	Pfeiffer syndrome [DS:H01756]
K05093	Jackson-Weiss syndrome [DS:H01988]
K05093	Beare-Stevenson syndrome [DS:H01989]
K05093	Saethre-Chotzen syndrome [DS:H01991]
K05094	Multiple myeloma [DS:H00010]
K05094	Bladder cancer [DS:H00022]
K05094	Syndromic craniosynostoses [DS:H00458]
K05094	FGFR3-related short limb skeletal dysplasia [DS:H00505]
K05094	Lacrimo-auriculo-dento-digital syndrome [DS:H00642]
K05094	CATSHL syndrome [DS:H00997]
K05094	Achondroplasia [DS:H01749]
K05094	Thanatophoric dysplasia [DS:H01750]
K05094	Crouzon syndrome [DS:H01754]
K05094	Muenke syndrome [DS:H01990]
K05094	Hypochondroplasia [DS:H02068]
K05094	SADDAN [DS:H02069]
K05097	Lymphatic malformation [DS:H00535]
K05097	Lymphangioma [DS:H01471]
K05098	Infantile hemangioma [DS:H01482]
K05099	Non-small cell lung cancer [DS:H00014]
K05099	Gastric cancer [DS:H00018]
K05099	Renal cell carcinoma [DS:H00021]
K05099	Cholangiocarcinoma [DS:H00046]
K05099	Hepatocellular carcinoma [DS:H00048]
K05099	Deafness, autosomal recessive [DS:H00605]
K05099	Desmoplastic small round cell tumor [DS:H01985]
K05101	Neuroblastoma [DS:H00043]
K05101	Salivary gland cancer [DS:H01508]
K05103	Cataract [DS:H01202]
K05113	Lymphatic malformation [DS:H00535]
K05113	Capillary malformation-arteriovenous malformation [DS:H02043]
K05117	Retinitis pigmentosa [DS:H00527]
K05119	Non-small cell lung cancer [DS:H00014]
K05119	Anaplastic large-cell lymphoma [DS:H01601]
K05119	Peripheral T cell lymphoma [DS:H01892]
K05121	Venous malformations [DS:H00531]
K05121	Cutaneous and mucosal venous malformation [DS:H02044]
K05122	Deafness, autosomal recessive [DS:H00605]
K05123	Brachydactyly [DS:H00482]
K05123	Robinow syndrome [DS:H00485]
K05125	SEMD, short limb-hand type [DS:H00777]
K05126	Non-small cell lung cancer [DS:H00014]
K05126	Thyroid cancer [DS:H00032]
K05126	Multiple endocrine neoplasia syndrome [DS:H00247]
K05126	Hirschsprung disease [DS:H00910]
K05126	Congenital central hypoventilation syndrome [DS:H00916]
K05126	Malignant paraganglioma [DS:H01510]
K05126	Medullary thyroid cancer [DS:H01592]
K05129	Congenital myasthenic syndrome [DS:H00770]
K05129	Fetal akinesia deformation sequence [DS:H00987]
K05132	IFN-gamma/IL-12 axis [DS:H00089]
K05132	Tuberculosis [DS:H00342]
K05133	IFN-gamma/IL-12 axis [DS:H00089]
K05133	Tuberculosis [DS:H00342]
K05134	Crohn disease [DS:H00286]
K05134	Inflammatory bowel disease (IBD) [DS:H01227]
K05135	Crohn disease [DS:H00286]
K05135	Inflammatory bowel disease (IBD) [DS:H01227]
K05140	Allergic rhinitis [DS:H01360]
K05141	Graft-versus-host disease [DS:H00084]
K05142	Combined immunodeficiency [DS:H00093]
K05147	Osteopetrosis [DS:H00436]
K05147	Paget disease of bone [DS:H00437]
K05147	Familial expansile osteolysis [DS:H02042]
K05148	Paget disease of bone [DS:H00437]
K05150	Common variable immunodeficiency [DS:H00088]
K05151	Common variable immunodeficiency [DS:H00088]
K05152	Diffuse large B-cell lymphoma, not otherwise specified [DS:H02434]
K05156	Amelogenesis imperfecta [DS:H00615]
K05162	Hypohidrotic ectodermal dysplasia [DS:H00651]
K05164	Chronic mucocutaneous candidiasis [DS:H01109]
K05166	Chronic mucocutaneous candidiasis [DS:H01109]
K05167	Hypogonadotropic hypogonadism [DS:H00255]
K05170	X-linked mental retardation [DS:H00480]
K05175	Early infantile epileptic encephalopathy [DS:H00606]
K05175	Idiopathic generalized epilepsies [DS:H00808]
K05175	Alcohol dependence [DS:H01611]
K05175	Childhood absence epilepsy [DS:H02215]
K05175	Juvenile myoclonic epilepsy [DS:H02217]
K05181	Early infantile epileptic encephalopathy [DS:H00606]
K05181	Infantile or early childhood epileptic encephalopathy [DS:H02150]
K05181	Childhood absence epilepsy [DS:H02215]
K05184	Febrile seizures [DS:H00783]
K05184	Idiopathic generalized epilepsies [DS:H00808]
K05184	Juvenile myoclonic epilepsy [DS:H02217]
K05186	Early infantile epileptic encephalopathy [DS:H00606]
K05186	Febrile seizures [DS:H00783]
K05186	Childhood absence epilepsy [DS:H02215]
K05193	Hyperekplexia [DS:H00769]
K05196	Hyperekplexia [DS:H00769]
K05198	Syndromic neurodevelopmental disorder [DS:H02459]
K05199	Syndromic X-linked mental retardation [DS:H00658]
K05200	Syndromic neurodevelopmental disorder [DS:H02459]
K05202	Autosomal recessive mental retardation [DS:H00768]
K05207	Autosomal recessive spinocerebellar ataxias [DS:H01891]
K05208	Autosomal dominant mental retardation [DS:H00773]
K05208	Syndromic neurodevelopmental disorder [DS:H02459]
K05209	Landau-Kleffner syndrome [DS:H01514]
K05209	Rolandic epilepsy, mental retardation, and speech dyspraxia [DS:H01827]
K05210	Early infantile epileptic encephalopathy [DS:H00606]
K05210	Autosomal dominant mental retardation [DS:H00773]
K05212	Early infantile epileptic encephalopathy [DS:H00606]
K05216	Deafness, autosomal dominant [DS:H00604]
K05227	Waardenburg syndrome [DS:H00759]
K05227	Hirschsprung disease [DS:H00910]
K05227	Congenital central hypoventilation syndrome [DS:H00916]
K05228	Genetic obesity [DS:H02106]
K05231	Eating Disorders [DS:H01703]
K05231	Genetic obesity [DS:H02106]
K05240	Hypogonadotropic hypogonadism [DS:H00255]
K05242	Neurohypophyseal diabetes insipidus (NPDI) [DS:H00253]
K05244	Familial epilepsy temporal lobe (ETL) [DS:H00809]
K05246	Narcolepsy [DS:H01293]
K05250	Isolated follicle-stimulating hormone deficiency [DS:H01253]
K05251	Congenital nongoitrous hypothyroidism (CHNG) [DS:H00250]
K05251	Isolated TSH deficiency [DS:H01699]
K05252	Hypogonadotropic hypogonadism [DS:H00255]
K05254	Eating Disorders [DS:H01703]
K05254	Genetic obesity [DS:H02106]
K05260	Hypopituitarism [DS:H01700]
K05261	Osteoporosis [DS:H01593]
K05261	Hypoparathyroidism [DS:H01862]
K05283	Hyperphosphatasia with mental retardation syndrome [DS:H01488]
K05283	Inherited glycosylphosphatidylinositol deficiencies [DS:H01489]
K05284	PIGM-congenital disorder of glycosylation [DS:H01127]
K05284	Inherited glycosylphosphatidylinositol deficiencies [DS:H01489]
K05285	Multiple congenital anomalies-hypotonia-seizures syndrome [DS:H01486]
K05285	Inherited glycosylphosphatidylinositol deficiencies [DS:H01489]
K05286	Early infantile epileptic encephalopathy [DS:H00606]
K05286	Inherited glycosylphosphatidylinositol deficiencies [DS:H01489]
K05288	Hyperphosphatasia with mental retardation syndrome [DS:H01488]
K05288	Inherited glycosylphosphatidylinositol deficiencies [DS:H01489]
K05289	Inherited glycosylphosphatidylinositol deficiencies [DS:H01489]
K05290	Inherited glycosylphosphatidylinositol deficiencies [DS:H01489]
K05291	Inherited glycosylphosphatidylinositol deficiencies [DS:H01489]
K05292	Multiple congenital anomalies-hypotonia-seizures syndrome [DS:H01486]
K05292	Inherited glycosylphosphatidylinositol deficiencies [DS:H01489]
K05293	Inherited glycosylphosphatidylinositol deficiencies [DS:H01489]
K05294	Autosomal recessive mental retardation [DS:H00768]
K05294	Autosomal recessive mental retardation-42 [DS:H01485]
K05294	Inherited glycosylphosphatidylinositol deficiencies [DS:H01489]
K05304	Spondyloepimetaphyseal dysplasia [DS:H02187]
K05305	Congenital disorder of glycosylation with defective fucosylation [DS:H02451]
K05309	Penile cancer [DS:H00025]
K05310	Autosomal recessive mental retardation [DS:H00768]
K05310	Inherited glycosylphosphatidylinositol deficiencies [DS:H01489]
K05334	Hartnup disorder [DS:H00843]
K05334	Iminoglycinuria [DS:H00905]
K05334	Hyperglycinuria [DS:H01304]
K05357	Combined deficiency of vitamin K-dependent clotting factors [DS:H00995]
K05357	Coumarin resistance [DS:H01205]
K05361	Spondylometaphyseal dysplasia, Sedaghatian type [DS:H01825]
K05398	Leprosy [DS:H00344]
K05405	Graft-versus-host disease [DS:H00084]
K05405	Castleman disease [DS:H01479]
K05405	Juvenile idiopathic arthritis [DS:H01672]
K05410	Amyotrophic lateral sclerosis (ALS) [DS:H00058]
K05410	Frontotemporal dementia and amyotrophic lateral sclerosis [DS:H02342]
K05416	Allergic rhinitis [DS:H01360]
K05421	Cold-induced sweating syndrome [DS:H00935]
K05424	Leptin deficiency [DS:H02059]
K05425	IFN-gamma/IL-12 axis [DS:H00089]
K05429	Graft-versus-host disease [DS:H00084]
K05429	Type 1 diabetes mellitus [DS:H00408]
K05430	Asthma [DS:H00079]
K05431	Epidermodysplasia verruciformis [DS:H00842]
K05434	Common variable immunodeficiency [DS:H00088]
K05434	Type 1 diabetes mellitus [DS:H00408]
K05435	Asthma [DS:H00079]
K05435	Graft-versus-host disease [DS:H00084]
K05435	Atopic dermatitis [DS:H01358]
K05435	Allergic rhinitis [DS:H01360]
K05436	Eosinophilic esophagitis [DS:H01361]
K05437	Allergic rhinitis [DS:H01360]
K05437	Diabetic retinopathy [DS:H01457]
K05438	Growth hormone deficiency [DS:H00254]
K05438	Isolated growth hormone deficiency [DS:H02035]
K05438	Kowarski syndrome [DS:H02039]
K05443	Allograft rejection [DS:H00083]
K05443	Graft-versus-host disease [DS:H00084]
K05443	Inflammatory bowel disease (IBD) [DS:H01227]
K05443	Anaphylaxis [DS:H01359]
K05443	Ulcerative colitis [DS:H01466]
K05443	Eosinophilic granulomatosis with polyangiitis [DS:H01468]
K05443	Behcet disease [DS:H01476]
K05448	Diabetic nephropathy [DS:H01456]
K05448	Diabetic retinopathy [DS:H01457]
K05448	Diabetic neuropathy [DS:H01459]
K05448	Avascular necrosis of femoral head [DS:H01529]
K05448	Glucocorticoid-induced osteonecrosis [DS:H01709]
K05449	Lymphatic malformation [DS:H00535]
K05452	Hirschsprung disease [DS:H00910]
K05452	Congenital central hypoventilation syndrome [DS:H00916]
K05455	Schizophrenia [DS:H01649]
K05459	Malignant pleural mesothelioma [DS:H00015]
K05459	Insulin-like growth factor I deficiency [DS:H02040]
K05460	Hepatocellular carcinoma [DS:H00048]
K05460	Deafness, autosomal recessive [DS:H00605]
K05461	Deafness, autosomal dominant [DS:H00604]
K05461	Familial progressive hyperpigmentation [DS:H00884]
K05463	Syndromic craniosynostoses [DS:H00458]
K05463	Craniofrontonasal syndrome [DS:H01992]
K05468	Leprosy [DS:H00344]
K05469	Systemic sclerosis [DS:H01492]
K05473	Osteopetrosis [DS:H00436]
K05473	Giant cell tumor of bone [DS:H01470]
K05478	Crohn disease [DS:H00286]
K05480	Tooth agenesis [DS:H00625]
K05480	Hypohidrotic ectodermal dysplasia [DS:H00651]
K05481	Graft-versus-host disease [DS:H00084]
K05481	Interleukin 1 receptor antagonist deficiency (DIRA) [DS:H01275]
K05482	Allergic rhinitis [DS:H01360]
K05482	Adult onset Still disease [DS:H01516]
K05483	Psoriasis [DS:H01656]
K05494	Chronic mucocutaneous candidiasis [DS:H01109]
K05495	Tetralogy of Fallot [DS:H00549]
K05495	Complete transposition of the great arteries [DS:H00550]
K05495	Heterotaxy [DS:H00632]
K05495	Double-outlet right ventricle [DS:H00918]
K05495	Congenital asplenia [DS:H01435]
K05495	Congenital heart defects, multiple type [DS:H02199]
K05497	Muscle hypertrophy [DS:H02452]
K05498	Ovarian dysgenesis [DS:H00599]
K05498	Premature ovarian failure [DS:H00627]
K05502	Osteogenesis imperfecta [DS:H00506]
K05503	Hereditary hemorrhagic telangiectasia [DS:H00533]
K05546	Polycystic kidney disease [DS:H00542]
K05546	Potter syndrome [DS:H01728]
K05547	Congenital nongoitrous hypothyroidism (CHNG) [DS:H00250]
K05605	Methacrylic aciduria [DS:H01349]
K05606	Methylmalonic aciduria [DS:H00174]
K05607	3-Methylglutaconic aciduria [DS:H00754]
K05611	Parkinson disease [DS:H00057]
K05611	Hereditary spastic paraplegia [DS:H00266]
K05612	Dicarboxylic aminoaciduria [DS:H00911]
K05612	Obsessive-compulsive disorder [DS:H01450]
K05613	Early infantile epileptic encephalopathy [DS:H00606]
K05614	Episodic ataxias [DS:H00749]
K05615	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly [DS:H02282]
K05619	Autosomal recessive congenital ichthyosis [DS:H00734]
K05620	Uncombable hair syndrome [DS:H01796]
K05622	Peeling skin syndrome [DS:H00737]
K05624	Spinocerebellar ataxia (SCA) [DS:H00063]
K05626	Dentatorubropallidoluysian atrophy (DRPLA) [DS:H00060]
K05628	RERE-related neurodevelopmental syndrome [DS:H02305]
K05629	Nephrotic syndrome [DS:H01657]
K05632	Syndromic multisystem autoimmune disease [DS:H01232]
K05634	Prion disease [DS:H00061]
K05634	Huntington disease-like syndrome [DS:H01243]
K05636	Lissencephaly [DS:H00268]
K05637	Limb-girdle muscular dystrophy [DS:H00593]
K05637	Merosin-deficient congenital muscular dystrophy [DS:H01958]
K05637	Poretti-Boltshauser syndrome [DS:H02464]
K05638	Hepatocellular carcinoma [DS:H00048]
K05640	Alexander disease [DS:H00065]
K05641	Tangier disease [DS:H00159]
K05641	Hypoalphalipoproteinemia [DS:H00930]
K05641	Atherosclerosis [DS:H02505]
K05642	Syndromic intellectual developmental disorder [DS:H02463]
K05643	Congenital pulmonary alveolar proteinosis [DS:H01122]
K05644	Cone-rod dystrophy and cone dystrophy [DS:H00481]
K05644	Retinitis pigmentosa [DS:H00527]
K05644	Stargardt disease [DS:H00819]
K05644	Age-related macular degeneration [DS:H00821]
K05646	Harlequin ichthyosis [DS:H00733]
K05646	Autosomal recessive congenital ichthyosis [DS:H00734]
K05648	Gingival fibromatosis with hypertrichosis [DS:H02417]
K05653	Combined immunodeficiency [DS:H00093]
K05653	Bare lymphocyte syndrome type1 [DS:H00984]
K05654	Combined immunodeficiency [DS:H00093]
K05654	Bare lymphocyte syndrome type1 [DS:H00984]
K05658	Inflammatory bowel disease (IBD) [DS:H01227]
K05658	Avascular necrosis of femoral head [DS:H01529]
K05658	Glucocorticoid-induced osteonecrosis [DS:H01709]
K05659	Progressive familial intrahepatic cholestasis [DS:H00624]
K05659	Gallbladder disease [DS:H01213]
K05659	Intrahepatic cholestasis of pregnancy [DS:H02193]
K05661	Hereditary stomatocytosis [DS:H00232]
K05661	Microphthalmia [DS:H01027]
K05661	Familial pseudohyperkalemia [DS:H02001]
K05661	Dyschromatosis universalis hereditaria [DS:H02350]
K05662	Sideroblastic anemia [DS:H00982]
K05664	Progressive familial intrahepatic cholestasis [DS:H00624]
K05664	Benign recurrent intrahepatic cholestasis [DS:H02192]
K05665	Deafness, autosomal dominant [DS:H00604]
K05666	Hyperbilirubinemia [DS:H00208]
K05666	Dubin-Johnson syndrome [DS:H02056]
K05669	Pseudoxanthoma elasticum [DS:H00560]
K05669	Generalized arterial calcification of infancy [DS:H01002]
K05675	Adrenoleukodystrophy [DS:H00176]
K05677	Congenital bile acid synthesis defect [DS:H00628]
K05678	Methylmalonic aciduria and homocystinuria [DS:H02221]
K05683	Sitosterolemia [DS:H00152]
K05683	Macrothrombocytopenia [DS:H01740]
K05683	Atherosclerosis [DS:H02505]
K05684	Sitosterolemia [DS:H00152]
K05684	Gallbladder disease [DS:H01213]
K05684	Macrothrombocytopenia [DS:H01740]
K05684	Atherosclerosis [DS:H02505]
K05687	Parkinson disease [DS:H00057]
K05687	Parkinsonian syndrome [DS:H01600]
K05688	Parkinson disease [DS:H00057]
K05688	Parkinsonian syndrome [DS:H01600]
K05689	Gastric cancer [DS:H00018]
K05689	Penile cancer [DS:H00025]
K05689	Thyroid cancer [DS:H00032]
K05689	Nasopharyngeal cancer [DS:H00054]
K05689	Blepharocheilodontic syndrome [DS:H02474]
K05690	Blepharocheilodontic syndrome [DS:H02474]
K05691	Complex cortical dysplasia with other brain malformations [DS:H01881]
K05691	Pattern dystrophies of the retinal pigment epithelium [DS:H01890]
K05692	Other phagocyte defects [DS:H00101]
K05692	Deafness, autosomal dominant [DS:H00604]
K05692	Juvenile-onset dystonia [DS:H01255]
K05692	Bilateral sudden sensorineural hearing loss [DS:H01705]
K05692	Baraitser-Winter syndrome [DS:H02023]
K05699	Focal segmental glomerulosclerosis [DS:H00626]
K05699	Macrothrombocytopenia [DS:H01740]
K05700	Hypertrophic cardiomyopathy [DS:H00292]
K05700	Dilated cardiomyopathy [DS:H00294]
K05704	Thrombocytopenia (THC) [DS:H00978]
K05706	Piebaldism [DS:H00170]
K05706	Waardenburg syndrome [DS:H00759]
K05717	Glomerulopathy with fibronectin deposits [DS:H01260]
K05717	Spondylometaphyseal dysplasia [DS:H02185]
K05720	Aarskog-Scott syndrome [DS:H00569]
K05723	Charcot-Marie-Tooth disease [DS:H00264]
K05727	Syndromic neurodevelopmental disorder [DS:H02459]
K05729	X-linked mental retardation [DS:H00480]
K05733	X-linked mental retardation [DS:H00480]
K05738	Congenital myopathy [DS:H01810]
K05740	Deafness, autosomal dominant [DS:H00604]
K05740	Macrothrombocytopenia [DS:H01740]
K05741	Premature ovarian failure [DS:H00627]
K05742	Autosomal recessive spinocerebellar ataxias [DS:H01891]
K05743	Williams-Beuren syndrome [DS:H01439]
K05745	Auditory neuropathy [DS:H02339]
K05747	Neutropenic disorders [DS:H00100]
K05747	Other well-defined immunodeficiency syndromes [DS:H00107]
K05747	Thrombocytopenia (THC) [DS:H00978]
K05747	Wiskott-Aldrich syndrome [DS:H01523]
K05749	Early infantile epileptic encephalopathy [DS:H00606]
K05753	Syndromic neurodevelopmental disorder [DS:H02459]
K05759	Amyotrophic lateral sclerosis (ALS) [DS:H00058]
K05762	Deafness, autosomal recessive [DS:H00605]
K05765	Nemaline myopathy [DS:H00698]
K05768	Amyloidosis, Finnish type [DS:H02322]
K05771	Glucocorticoid resistance syndrome [DS:H01702]
K05771	Glucocorticoid-induced osteonecrosis [DS:H01709]
K05810	Juvenile idiopathic arthritis [DS:H01672]
K05840	Attention deficit hyperactivity disorder (ADHD) [DS:H01895]
K05850	Primary aldosteronism [DS:H01603]
K05852	Dilated cardiomyopathy [DS:H00294]
K05853	Darier disease [DS:H00715]
K05853	Acrokeratosis verruciformis [DS:H00755]
K05853	Brody myopathy [DS:H01129]
K05856	Combined immunodeficiency [DS:H00093]
K05857	Nonsyndromic congenital nail disorder [DS:H01307]
K05858	Early infantile epileptic encephalopathy [DS:H00606]
K05858	Malignant migrating partial seizures in infancy [DS:H01815]
K05858	Auriculocondylar syndrome [DS:H01884]
K05859	Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation [DS:H01743]
K05859	Familial cold autoinflammatory syndrome [DS:H02159]
K05860	Nephrotic syndrome [DS:H01657]
K05861	Spermatogenic failure [DS:H01282]
K05863	Mitochondrial DNA depletion syndrome [DS:H00469]
K05863	Progressive external ophthalmoplegia [DS:H01118]
K05865	Hypertrophic cardiomyopathy [DS:H00292]
K05865	Dilated cardiomyopathy [DS:H00294]
K05872	Hodgkin lymphoma [DS:H00007]
K05948	Spondylocostal dysostosis [DS:H00517]
K06013	Restrictive dermopathy [DS:H00663]
K06013	Mandibuloacral dysplasia [DS:H00665]
K06030	Charcot-Marie-Tooth disease [DS:H00264]
K06051	Spondylocostal dysostosis [DS:H00517]
K06051	Adams-Oliver syndrome [DS:H01413]
K06051	Neurodevelopmental disorder with structural brain abnormalities [DS:H02470]
K06052	Tetralogy of Fallot [DS:H00549]
K06052	Alagille syndrome [DS:H00551]
K06053	Adams-Oliver syndrome [DS:H01413]
K06059	Neonatal inflammatory skin and bowel disease [DS:H02467]
K06061	Salivary gland cancer [DS:H01508]
K06068	Autoimmune lymphoproliferative syndromes [DS:H00108]
K06070	Congenital heart defects and ectodermal dysplasia [DS:H02453]
K06081	Cleft lip and/or cleft palate [DS:H00516]
K06087	Deafness, autosomal recessive [DS:H00605]
K06087	Neonatal ichthyosis-sclerosing cholangitis (NISCH) syndrome [DS:H00742]
K06087	Hypomagnesemia [DS:H01210]
K06087	Williams-Beuren syndrome [DS:H01439]
K06087	HELIX syndrome [DS:H02486]
K06088	Band-like calcification with simplified gyration and polymicrogyria [DS:H00840]
K06095	Congenital hydrocephalus [DS:H01677]
K06098	Progressive familial intrahepatic cholestasis [DS:H00624]
K06098	Familial hypercholanemia [DS:H01935]
K06101	Autosomal dominant mental retardation [DS:H00773]
K06103	FG syndrome [DS:H00894]
K06103	MICPCH syndrome [DS:H01921]
K06107	Hereditary elliptocytosis [DS:H00231]
K06114	Hereditary spherocytosis [DS:H00230]
K06114	Hereditary elliptocytosis [DS:H00231]
K06114	Early infantile epileptic encephalopathy [DS:H00606]
K06114	Hereditary pyropoikilocytosis [DS:H01125]
K06115	Hereditary spherocytosis [DS:H00230]
K06115	Hereditary elliptocytosis [DS:H00231]
K06125	Coenzyme Q10 deficiency [DS:H00999]
K06125	Multiple system atrophy [DS:H01614]
K06126	Coenzyme Q10 deficiency [DS:H00999]
K06127	Coenzyme Q10 deficiency [DS:H00999]
K06134	Coenzyme Q10 deficiency [DS:H00999]
K06170	Acne inversa [DS:H00681]
K06171	Acne inversa [DS:H00681]
K06173	Myopathy with lactic acidosis and sideroblastic anaemia [DS:H00898]
K06176	Syndromic intellectual developmental disorder [DS:H02463]
K06210	Leber congenital amaurosis [DS:H00837]
K06225	Basal cell carcinoma [DS:H00039]
K06225	Holoprosencephaly [DS:H00267]
K06225	Basal cell nevus syndrome [DS:H00895]
K06225	Medulloblastoma [DS:H01667]
K06226	Basal cell carcinoma [DS:H00039]
K06226	Meningioma [DS:H01556]
K06226	Medulloblastoma [DS:H01667]
K06229	Joubert syndrome [DS:H00530]
K06229	Basal cell nevus syndrome [DS:H00895]
K06229	Meningioma [DS:H01556]
K06229	Medulloblastoma [DS:H01667]
K06230	Pallister-Hall syndrome [DS:H00502]
K06230	Polysyndactyly [DS:H01226]
K06230	Postaxial polydactyly [DS:H01852]
K06230	Greig cephalopolysyndactyly syndrome [DS:H02161]
K06230	Preaxial polydactyly [DS:H02332]
K06233	Donnai-Barrow syndrome [DS:H00886]
K06234	Syndromic craniosynostoses [DS:H00458]
K06234	Carpenter syndrome [DS:H01888]
K06235	Holoprosencephaly [DS:H00267]
K06236	Osteogenesis imperfecta [DS:H00506]
K06236	Infantile cortical hyperostosis [DS:H00613]
K06236	Osteoporosis [DS:H01593]
K06236	Ehlers-Danlos syndrome cardiac valvular type [DS:H02241]
K06236	Ehlers-Danlos syndrome arthrochalasia type [DS:H02243]
K06237	Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) [DS:H00579]
K06237	Alport syndrome [DS:H00581]
K06237	Benign familial hematuria [DS:H00582]
K06237	Porencephaly [DS:H00839]
K06237	Brain small vessel disease [DS:H00877]
K06237	Deafness, X-linked [DS:H01209]
K06237	Uterine leiomyoma [DS:H01640]
K06238	Ossification of the posterior longitudinal ligament of spine [DS:H00431]
K06238	Primary dystonia [DS:H00831]
K06238	Myosclerosis [DS:H01338]
K06238	Bethlem myopathy [DS:H01340]
K06238	Collagen VI myopathy [DS:H01341]
K06238	Atopic dermatitis [DS:H01358]
K06238	Ullrich disease [DS:H01778]
K06240	Epidermolysis bullosa, junctional [DS:H00586]
K06240	Laryngo onycho cutaneous syndrome [DS:H00813]
K06241	Dilated cardiomyopathy [DS:H00294]
K06243	Pierson syndrome [DS:H00576]
K06243	Nephrotic syndrome [DS:H01657]
K06244	Epidermolysis bullosa, junctional [DS:H00586]
K06244	Amelogenesis imperfecta [DS:H00615]
K06246	Epidermolysis bullosa, junctional [DS:H00586]
K06247	Occipital cortical malformation [DS:H02501]
K06249	Lissencephaly [DS:H00268]
K06249	Familial epilepsy temporal lobe (ETL) [DS:H00809]
K06252	Deafness, autosomal dominant [DS:H00604]
K06252	Ehlers-Danlos syndrome [DS:H00802]
K06252	Vesicoureteral reflux [DS:H01037]
K06254	Congenital myasthenic syndrome [DS:H00770]
K06255	Heparan sulfate proteoglycan gene defects [DS:H00493]
K06255	Schwartz-Jampel syndrome [DS:H01777]
K06255	Dyssegmental dysplasia [DS:H02155]
K06259	CD36 deficiency [DS:H01108]
K06259	Coronary artery disease [DS:H01742]
K06261	Hemophilia [DS:H00219]
K06261	Bernard-Soulier syndrome [DS:H00224]
K06261	Macrothrombocytopenia [DS:H01740]
K06261	Platelet-type von Willebrand disease [DS:H02093]
K06262	Bernard-Soulier syndrome [DS:H00224]
K06262	Macrothrombocytopenia [DS:H01740]
K06263	Bernard-Soulier syndrome [DS:H00224]
K06263	Macrothrombocytopenia [DS:H01740]
K06264	Bleeding disorder platelet-type [DS:H01235]
K06265	Muscular dystrophy-dystroglycanopathy type A [DS:H00120]
K06265	Limb-girdle muscular dystrophy [DS:H00593]
K06265	Muscular dystrophy-dystroglycanopathy type C [DS:H01959]
K06265	Muscular dystrophy-dystroglycanopathy [DS:H02307]
K06269	Noonan syndrome and related disorders [DS:H00523]
K06269	Noonan-like syndrome with loose anagen hair [DS:H02191]
K06278	Congenital generalized lipodystrophy [DS:H00419]
K06278	Pulmonary arterial hypertension [DS:H01621]
K06316	Congenital disorders of glycosylation type I [DS:H00118]
K06450	T-B+Severe combined immunodeficiency [DS:H00091]
K06451	T-B+Severe combined immunodeficiency [DS:H00091]
K06452	Combined immunodeficiency [DS:H00093]
K06453	T-B+Severe combined immunodeficiency [DS:H00091]
K06453	Systemic sclerosis [DS:H01492]
K06458	Combined immunodeficiency [DS:H00093]
K06463	Systemic lupus erythematosus [DS:H00080]
K06463	NK cell defects [DS:H00090]
K06464	Leukocyte adhesion deficiency [DS:H00099]
K06465	Common variable immunodeficiency [DS:H00088]
K06466	Common variable immunodeficiency [DS:H00088]
K06472	Systemic lupus erythematosus [DS:H00080]
K06472	Allergic rhinitis [DS:H01360]
K06476	Glanzmann thrombasthenia [DS:H00226]
K06476	Macrothrombocytopenia [DS:H01740]
K06478	T-B+Severe combined immunodeficiency [DS:H00091]
K06481	Bleeding disorder platelet-type [DS:H01235]
K06482	Congenital interstitial lung disease with nephrotic syndrome and epidermolysis bullosa [DS:H02500]
K06485	Epidermolysis bullosa, junctional [DS:H00586]
K06490	Allograft rejection [DS:H00083]
K06492	Diffuse large B-cell lymphoma, not otherwise specified [DS:H02434]
K06493	Allograft rejection [DS:H00083]
K06493	Glanzmann thrombasthenia [DS:H00226]
K06493	Macrothrombocytopenia [DS:H01740]
K06499	Deafness, autosomal dominant [DS:H00604]
K06499	Deafness, autosomal recessive [DS:H00605]
K06506	Agammaglobulinemias [DS:H00085]
K06506	Diffuse large B-cell lymphoma, not otherwise specified [DS:H02434]
K06507	Agammaglobulinemias [DS:H00085]
K06507	Primary central nervous system lymphoma [DS:H02424]
K06507	Diffuse large B-cell lymphoma, not otherwise specified [DS:H02434]
K06508	Common variable immunodeficiency [DS:H00088]
K06517	C syndrome [DS:H01008]
K06521	Cone-rod dystrophy and cone dystrophy [DS:H00481]
K06521	Retinitis pigmentosa [DS:H00527]
K06522	Lacrimal duct defect [DS:H02514]
K06525	Epidermolysis bullosa, junctional [DS:H00586]
K06526	Hereditary hemorrhagic telangiectasia [DS:H00533]
K06526	Pulmonary arterial hypertension [DS:H01621]
K06528	Danon disease [DS:H00150]
K06528	Autophagic vacuolar myopathy [DS:H01781]
K06532	Cone-rod dystrophy and cone dystrophy [DS:H00481]
K06532	Retinitis pigmentosa [DS:H00527]
K06532	Stargardt disease [DS:H00819]
K06537	Nephropathy with pretibial epidermolysis bullosa and deafness [DS:H00928]
K06538	Hashimoto thyroiditis [DS:H00081]
K06538	Graves disease [DS:H00082]
K06538	Allograft rejection [DS:H00083]
K06538	Autoimmune lymphoproliferative syndromes [DS:H00108]
K06538	Type 1 diabetes mellitus [DS:H00408]
K06538	Rasmussen encephalitis [DS:H01812]
K06538	Celiac disease [DS:H02123]
K06546	Deafness, autosomal dominant [DS:H00604]
K06550	Hereditary spastic paraplegia [DS:H00266]
K06550	L1 syndrome [DS:H01034]
K06550	MASA syndrome [DS:H02178]
K06550	Hydrocephalus due to congenital stenosis of aqueduct of sylvius [DS:H02458]
K06554	Agammaglobulinemias [DS:H00085]
K06558	Barrett esophagus [DS:H01901]
K06566	Osteogenesis imperfecta [DS:H00506]
K06567	Type 1 diabetes mellitus [DS:H00408]
K06568	Autosomal dominant tubulointerstitial kidney disease [DS:H00541]
K06568	Medullary cystic kidney disease [DS:H02012]
K06571	X-linked mental retardation [DS:H00480]
K06573	Hereditary spherocytosis [DS:H00230]
K06573	Hereditary elliptocytosis [DS:H00231]
K06573	Hereditary stomatocytosis [DS:H00232]
K06573	Distal renal tubular acidosis (RTA type 1) [DS:H00428]
K06573	Southeast Asian ovalocytosis [DS:H01720]
K06573	Cryohydrocytosis [DS:H02002]
K06573	Renal tubular acidosis [DS:H02310]
K06580	Hereditary stomatocytosis [DS:H00232]
K06580	Rh-null hemolytic anemia (RHN) [DS:H01214]
K06580	Overhydrated hereditary stomatocytosis [DS:H01979]
K06583	Congenital muscular dystrophies (CMD/MDC) [DS:H00590]
K06584	Renal hypodysplasia and aplasia [DS:H00822]
K06584	Potter syndrome [DS:H01728]
K06585	Congenital muscular dystrophies (CMD/MDC) [DS:H00590]
K06589	Amelogenesis imperfecta [DS:H00615]
K06593	Ectodermal dysplasia-syndactyly syndrome [DS:H00647]
K06618	Chronic myeloid leukemia [DS:H00004]
K06618	Small cell lung cancer [DS:H00013]
K06618	Esophageal cancer [DS:H00017]
K06618	Bladder cancer [DS:H00022]
K06618	Osteosarcoma [DS:H00036]
K06618	Glioma [DS:H00042]
K06618	Hepatocellular carcinoma [DS:H00048]
K06618	Retinoblastoma [DS:H01513]
K06619	B-cell acute lymphoblastic leukemia [DS:H00001]
K06619	Chronic myeloid leukemia [DS:H00004]
K06621	Chronic myeloid leukemia [DS:H00004]
K06621	Burkitt lymphoma [DS:H00008]
K06621	Adult T-cell leukemia [DS:H00009]
K06621	Non-small cell lung cancer [DS:H00014]
K06621	Malignant pleural mesothelioma [DS:H00015]
K06621	Oral cancer [DS:H00016]
K06621	Esophageal cancer [DS:H00017]
K06621	Pancreatic cancer [DS:H00019]
K06621	Bladder cancer [DS:H00022]
K06621	Penile cancer [DS:H00025]
K06621	Osteosarcoma [DS:H00036]
K06621	Melanoma [DS:H00038]
K06621	Squamous cell carcinoma [DS:H00040]
K06621	Glioma [DS:H00042]
K06621	Cholangiocarcinoma [DS:H00046]
K06621	Gallbladder cancer [DS:H00047]
K06621	Hepatocellular carcinoma [DS:H00048]
K06621	Nasopharyngeal cancer [DS:H00054]
K06621	Laryngeal cancer [DS:H00055]
K06621	Type 2 diabetes mellitus [DS:H00409]
K06621	Mycosis fungoides [DS:H01463]
K06621	Mantle cell lymphoma [DS:H01464]
K06621	Salivary gland cancer [DS:H01508]
K06621	Tonsillar cancer [DS:H01509]
K06621	Retinoblastoma [DS:H01513]
K06621	Meningioma [DS:H01556]
K06621	Primary central nervous system lymphoma [DS:H02424]
K06621	Diffuse large B-cell lymphoma, not otherwise specified [DS:H02434]
K06624	Gastric cancer [DS:H00018]
K06624	Prostate cancer [DS:H00024]
K06624	Multiple endocrine neoplasia syndrome [DS:H00247]
K06624	Pituitary adenomas [DS:H01102]
K06624	Cushing syndrome [DS:H01431]
K06625	Cervical cancer [DS:H00030]
K06626	Gastric cancer [DS:H00018]
K06626	Laryngeal cancer [DS:H00055]
K06628	Meier-Gorlin syndrome [DS:H01889]
K06630	Lissencephaly [DS:H00268]
K06632	Oocyte maturation defect [DS:H01897]
K06636	Early infantile epileptic encephalopathy [DS:H00606]
K06636	Cornelia de Lange syndrome [DS:H00631]
K06637	Mosaic variegated aneuploidy syndrome [DS:H01288]
K06639	Deafness, autosomal recessive [DS:H00605]
K06640	Rhabdomyosarcoma [DS:H00037]
K06640	Seckel syndrome [DS:H00992]
K06641	Li-Fraumeni syndrome [DS:H00881]
K06642	T-B-Severe combined immunodeficiency [DS:H00092]
K06643	Penile cancer [DS:H00025]
K06643	Choriocarcinoma [DS:H00028]
K06643	Osteosarcoma [DS:H00036]
K06643	Rhabdomyosarcoma [DS:H00037]
K06643	Glioma [DS:H00042]
K06643	Retinoblastoma [DS:H01513]
K06643	Medulloblastoma [DS:H01667]
K06664	Infantile Refsum disease [DS:H00204]
K06664	Peroxisome biogenesis disorder [DS:H00205]
K06664	Zellweger syndrome [DS:H01342]
K06669	Cornelia de Lange syndrome [DS:H00631]
K06670	Cornelia de Lange syndrome [DS:H00631]
K06671	Holoprosencephaly [DS:H00267]
K06671	Autosomal dominant mental retardation [DS:H00773]
K06672	Cornelia de Lange syndrome [DS:H00631]
K06676	Primary microcephaly [DS:H00269]
K06677	Primary microcephaly [DS:H00269]
K06695	Ovarian dysgenesis [DS:H00599]
K06711	Syndromic intellectual developmental disorder [DS:H02463]
K06713	Common variable immunodeficiency [DS:H00088]
K06735	Familial idiopathic basal ganglia calcification [DS:H01574]
K06736	Agenesis of corpus callosum, cardiac, ocular, and genital syndrome [DS:H02508]
K06737	Mismatch repair deficiency [DS:H00876]
K06737	Congenital diarrhea [DS:H01174]
K06744	Systemic lupus erythematosus [DS:H00080]
K06744	Multiple sclerosis [DS:H01490]
K06744	Rasmussen encephalitis [DS:H01812]
K06751	Leprosy [DS:H00344]
K06751	Behcet disease [DS:H01476]
K06751	Seronegative arthritis [DS:H01507]
K06751	Psoriasis [DS:H01656]
K06751	Ankylosing spondylitis [DS:H01674]
K06751	Stevens-Johnson syndrome [DS:H01694]
K06751	Diffuse panbronchiolitis [DS:H01713]
K06752	Asthma [DS:H00079]
K06752	Systemic lupus erythematosus [DS:H00080]
K06752	Hashimoto thyroiditis [DS:H00081]
K06752	Graves disease [DS:H00082]
K06752	Allograft rejection [DS:H00083]
K06752	Dilated cardiomyopathy [DS:H00294]
K06752	Viral myocarditis [DS:H00295]
K06752	Tuberculosis [DS:H00342]
K06752	Type 1 diabetes mellitus [DS:H00408]
K06752	Dermatitis herpetiformis [DS:H01362]
K06752	Eosinophilic granulomatosis with polyangiitis [DS:H01468]
K06752	Multiple sclerosis [DS:H01490]
K06752	Systemic sclerosis [DS:H01492]
K06752	Sjogren syndrome [DS:H01502]
K06752	Vogt-Koyanagi-Harada syndrome [DS:H01504]
K06752	Adult onset Still disease [DS:H01516]
K06752	Giant cell arteritis [DS:H01698]
K06752	Celiac disease [DS:H02123]
K06752	Primary central nervous system lymphoma [DS:H02424]
K06754	Vesicoureteral reflux [DS:H01037]
K06755	Horizontal gaze palsy with progressive scoliosis [DS:H02450]
K06757	Syndromic neurodevelopmental disorder [DS:H02459]
K06759	Congenital myopathy [DS:H01810]
K06760	Familial adult myoclonic epilepsy [DS:H02213]
K06765	Colorectal cancer [DS:H00020]
K06765	Cancer of the anal canal [DS:H00044]
K06765	Congenital mirror movements [DS:H01287]
K06765	Horizontal gaze palsy with progressive scoliosis [DS:H02450]
K06770	Charcot-Marie-Tooth disease [DS:H00264]
K06770	Roussy-Levy syndrome [DS:H01155]
K06770	Congenital hypomyelinating neuropathy [DS:H02357]
K06770	Dejerine-Sottas disease [DS:H02359]
K06771	Hereditary spastic paraplegia [DS:H00266]
K06781	Nasopharyngeal cancer [DS:H00054]
K06784	Aortic valve disease [DS:H00554]
K06785	Hemorrhagic destruction of the brain, subependymal calcification, and cataracts [DS:H01301]
K06789	Congenital short bowel syndrome [DS:H01477]
K06792	Familial osteochondritis dissecans [DS:H00448]
K06792	Spondyloepiphyseal dysplasia, Kimberley type [DS:H00765]
K06792	Spondyloepimetaphyseal dysplasia [DS:H02187]
K06793	Vitreoretinal degeneration [DS:H00805]
K06793	Wagner syndrome [DS:H02073]
K06796	Ectodermal dysplasia, ectrodactyly, and macular dystrophy [DS:H00639]
K06796	Congenital hypotrichosis with juvenile macular dystrophy [DS:H00785]
K06803	Retinoblastoma [DS:H01513]
K06809	Autosomal dominant mental retardation [DS:H00773]
K06813	Deafness, autosomal recessive [DS:H00605]
K06813	Usher syndrome (US) [DS:H00779]
K06813	Bilateral sudden sensorineural hearing loss [DS:H01705]
K06823	Vitreoretinal degeneration [DS:H00805]
K06823	Knobloch syndrome [DS:H02074]
K06825	Marfan syndrome [DS:H00653]
K06825	MASS phenotype [DS:H00661]
K06825	Ectopia lentis [DS:H00662]
K06825	Weill-Marchesani syndrome [DS:H00673]
K06825	Geleophysic dysplasia [DS:H00900]
K06825	Stiff skin syndrome [DS:H01173]
K06825	Acromicric dysplasia [DS:H02228]
K06834	Cone-rod dystrophy and cone dystrophy [DS:H00481]
K06840	Hypogonadotropic hypogonadism [DS:H00255]
K06840	CHARGE syndrome [DS:H00556]
K06841	Chromosme 5p deletion syndrome [DS:H00764]
K06843	Congenital mirror movements [DS:H01287]
K06997	Early-onset vitamin B6-dependent epilepsy [DS:H02250]
K07151	Congenital disorders of glycosylation type I [DS:H00118]
K07152	Cytochrome c oxidase (COX) deficiency [DS:H01368]
K07188	Familial partial lipodystrophy [DS:H00420]
K07190	Glycogen storage disease [DS:H00069]
K07190	Hepatic glycogen storage disease [DS:H01760]
K07190	Muscle glycogen storage disease [DS:H01762]
K07190	Glycogen storage disease type IX [DS:H01948]
K07195	Neurodevelopmental disorder with microcephaly [DS:H02461]
K07197	Ichthyosis follicularis, alopecia, and photophobia syndrome [DS:H00740]
K07200	Glycogen storage disease [DS:H00069]
K07200	Hypertrophic cardiomyopathy [DS:H00292]
K07200	Wolff-Parkinson-White (WPW) syndrome [DS:H01154]
K07200	Glycogen storage disease of heart [DS:H01956]
K07201	Rhabdomyosarcoma [DS:H00037]
K07201	Diffuse large B-cell lymphoma, not otherwise specified [DS:H02434]
K07203	Smith-Kingsmore syndrome [DS:H01928]
K07206	Lymphangioleiomyomatosis [DS:H00896]
K07206	Tuberous sclerosis complex [DS:H00915]
K07206	Focal cortical dysplasia of Taylor [DS:H01251]
K07206	Renal angiomyolipoma [DS:H01691]
K07206	Subependymal giant cell astrocytoma [DS:H01692]
K07207	Lymphangioleiomyomatosis [DS:H00896]
K07207	Tuberous sclerosis complex [DS:H00915]
K07207	Renal angiomyolipoma [DS:H01691]
K07207	Subependymal giant cell astrocytoma [DS:H01692]
K07209	Combined immunodeficiency [DS:H00093]
K07210	IFN-gamma/IL-12 axis [DS:H00089]
K07210	Ectodermal dysplasia associated immunodeficiency [DS:H00095]
K07210	Osteoporosis, lymphedema, anhydrotic ectodermal dysplasia with immunodeficiency (OLEDAID) [DS:H00540]
K07210	Incontinentia pigmenti [DS:H00645]
K07210	Immunodeficiency without anhidrotic ectodermal dysplasia [DS:H01245]
K07249	Microphthalmia [DS:H01027]
K07253	Juvenile idiopathic arthritis [DS:H01672]
K07292	Maturity onset diabetes of the young (MODY) [DS:H00410]
K07293	Noonan syndrome and related disorders [DS:H00523]
K07293	Metachondromatosis [DS:H01018]
K07293	Noonan syndrome [DS:H01738]
K07293	Leopard syndrome [DS:H01984]
K07293	Myelodysplastic/myeloproliferative neoplasms [DS:H02410]
K07296	Adiponectin deficiency [DS:H00967]
K07298	Pancreatic cancer [DS:H00019]
K07298	Peutz-Jeghers syndrome [DS:H00666]
K07299	Hereditary stomatocytosis [DS:H00232]
K07299	Idiopathic generalized epilepsies [DS:H00808]
K07299	Primary dystonia [DS:H00831]
K07299	GLUT1 deficiency syndrome [DS:H00836]
K07305	Deafness, autosomal recessive [DS:H00605]
K07360	Combined immunodeficiency [DS:H00093]
K07363	Other well-defined immunodeficiency syndromes [DS:H00107]
K07363	Lymphoproliferative syndrome 1 [DS:H01970]
K07367	Combined immunodeficiency [DS:H00093]
K07367	Primary central nervous system lymphoma [DS:H02424]
K07367	Diffuse large B-cell lymphoma, not otherwise specified [DS:H02434]
K07368	Combined immunodeficiency [DS:H00093]
K07369	Combined immunodeficiency [DS:H00093]
K07370	Agammaglobulinemias [DS:H00085]
K07370	Growth hormone deficiency [DS:H00254]
K07370	Isolated growth hormone deficiency [DS:H02035]
K07371	Agammaglobulinemias [DS:H00085]
K07372	Oculodentodigital dysplasia [DS:H00449]
K07372	Atrioventricular septal defect [DS:H00547]
K07372	Erythrokeratodermia variabilis [DS:H00710]
K07372	Syndactyly [DS:H01095]
K07372	Hypoplastic left heart syndrome [DS:H01272]
K07374	Amyotrophic lateral sclerosis (ALS) [DS:H00058]
K07374	Lissencephaly [DS:H00268]
K07374	Keratoconus [DS:H00789]
K07374	Complex cortical dysplasia with other brain malformations [DS:H01881]
K07375	Hypomyelinating leukodystrophy [DS:H00679]
K07375	Leber congenital amaurosis [DS:H00837]
K07375	Congenital fibrosis of the extraocular muscles [DS:H00838]
K07375	Congenital symmetric circumferential skin creases [DS:H01579]
K07375	Macrothrombocytopenia [DS:H01740]
K07375	Complex cortical dysplasia with other brain malformations [DS:H01881]
K07375	Oocyte maturation defect [DS:H01897]
K07376	Familial thoracic aortic aneurysm and dissection [DS:H00801]
K07377	Pitt-Hopkins syndrome [DS:H00756]
K07378	Asperger syndrome [DS:H01882]
K07378	Autism [DS:H02111]
K07379	Lethal congenital contractural syndrome [DS:H00865]
K07379	Congenital hypomyelinating neuropathy [DS:H02357]
K07380	Pitt-Hopkins syndrome [DS:H00756]
K07380	Autism [DS:H02111]
K07390	Sideroblastic anemia [DS:H00982]
K07410	Anterior segment dysgenesis [DS:H01159]
K07410	Primary congenital glaucoma [DS:H01203]
K07419	Vitamin D-dependent rickets [DS:H01143]
K07422	Hereditary spastic paraplegia [DS:H00266]
K07427	Familial flecked retina syndrome [DS:H00825]
K07427	Bietti crystalline corneoretinal dystrophy [DS:H02107]
K07430	Hereditary spastic paraplegia [DS:H00266]
K07430	Congenital bile acid synthesis defect [DS:H00628]
K07432	Congenital disorders of glycosylation type I [DS:H00118]
K07432	Early infantile epileptic encephalopathy [DS:H00606]
K07433	Aldosterone synthase deficiency [DS:H00258]
K07433	Glucocorticoid-remediable aldosteronism (GRA) [DS:H00602]
K07433	High blood pressure [DS:H01633]
K07434	Aromatase excess syndrome [DS:H00794]
K07434	Aromatase deficiency [DS:H02020]
K07436	Hypercalcemia infantile [DS:H01371]
K07438	Type 1 diabetes mellitus [DS:H00408]
K07438	Vitamin D-dependent rickets [DS:H01143]
K07441	Congenital myasthenic syndrome [DS:H00770]
K07441	Syndromic intellectual developmental disorder [DS:H02463]
K07509	Disorders of mitochondrial fatty-acid oxidation [DS:H00525]
K07509	Mitochondrial trifunctional protein deficiency [DS:H01352]
K07511	Disorders of mitochondrial fatty-acid oxidation [DS:H00525]
K07512	Primary dystonia [DS:H00831]
K07514	Fanconi renotubular syndrome [DS:H01198]
K07515	LCHAD deficiency [DS:H00489]
K07515	Disorders of mitochondrial fatty-acid oxidation [DS:H00525]
K07515	Mitochondrial trifunctional protein deficiency [DS:H01352]
K07542	Hyperphosphatasia with mental retardation syndrome [DS:H01488]
K07542	Inherited glycosylphosphatidylinositol deficiencies [DS:H01489]
K07556	ATP synthase deficiency [DS:H01369]
K07561	Developmental delay with short stature, dysmorphic facial features, and sparse hair [DS:H02368]
K07588	Methylmalonic aciduria [DS:H00174]
K07593	Glycogen storage disease [DS:H00069]
K07593	Fanconi-Bickel syndrome [DS:H01947]
K07594	Maturity onset diabetes of the young (MODY) [DS:H00410]
K07594	Permanent neonatal diabetes mellitus [DS:H00512]
K07594	Pancreatic agenesis [DS:H00861]
K07596	Striate palmoplantar keratoderma [DS:H00717]
K07597	Arrhythmogenic right ventricular cardiomyopathy [DS:H00293]
K07599	Localized autosomal recessive hypotrichosis [DS:H00784]
K07599	Hypotrichosis [DS:H00786]
K07601	Arrhythmogenic right ventricular cardiomyopathy [DS:H00293]
K07602	Hypotrichosis and recurrent skin vesicles [DS:H00782]
K07603	Epidermolysis bullosa, junctional [DS:H00586]
K07604	Epidermolysis bullosa simplex [DS:H00584]
K07604	Woolly hair [DS:H00667]
K07604	Pachyonychia congenita [DS:H00684]
K07604	Bullous congenital ichthyosiform erythroderma (BCIE) [DS:H00691]
K07604	Naegeli-Franceschetti-Jadassohn syndrome [DS:H00708]
K07604	Epidermolytic palmoplantar keratoderma [DS:H00722]
K07604	Non-epidermolytic palmoplantar keratoderma [DS:H00723]
K07604	White sponge nevus [DS:H00724]
K07604	Meesmann corneal dystrophy [DS:H00726]
K07604	Ichthyosis with confetti [DS:H00738]
K07604	Dermatopathia pigmentosa reticularis [DS:H00796]
K07604	Familial cirrhosis [DS:H02225]
K07604	Focal nonepidermolytic palmoplantar keratoderma [DS:H02263]
K07604	Annular epidermolytic ichthyosis [DS:H02265]
K07605	Epidermolysis bullosa simplex [DS:H00584]
K07605	Ectodermal dysplasia, hair-nail type [DS:H00649]
K07605	Woolly hair [DS:H00667]
K07605	Monilethrix [DS:H00670]
K07605	Pseudofolliculitis barbae [DS:H00672]
K07605	Pachyonychia congenita [DS:H00684]
K07605	Bullous congenital ichthyosiform erythroderma (BCIE) [DS:H00691]
K07605	Ichthyosis bullosa of Siemens [DS:H00693]
K07605	Ichthyosis hystrix, Curth-Macklin type [DS:H00707]
K07605	Erythrokeratodermia variabilis [DS:H00710]
K07605	Striate palmoplantar keratoderma [DS:H00717]
K07605	Epidermolytic palmoplantar keratoderma [DS:H00722]
K07605	Non-epidermolytic palmoplantar keratoderma [DS:H00723]
K07605	White sponge nevus [DS:H00724]
K07605	Meesmann corneal dystrophy [DS:H00726]
K07605	Hypotrichosis [DS:H00786]
K07605	Dowling-Degos disease [DS:H00944]
K07605	Familial cirrhosis [DS:H02225]
K07605	Annular epidermolytic ichthyosis [DS:H02265]
K07606	Cataract [DS:H01202]
K07607	Amyotrophic lateral sclerosis (ALS) [DS:H00058]
K07610	Dilated cardiomyopathy [DS:H00294]
K07610	Myofibrillar myopathies [DS:H00595]
K07610	Scapuloperoneal myopathy [DS:H00656]
K07610	Restrictive cardiomyopathy [DS:H01219]
K07611	Familial partial lipodystrophy [DS:H00420]
K07611	Progressive myoclonic epilepsy [DS:H00810]
K07611	Adult-onset autosomal dominant leukodystrophy [DS:H01230]
K07612	Cataract [DS:H01202]
K07614	Atrial fibrillation [DS:H00731]
K07617	Cataract [DS:H01202]
K07619	Hereditary spastic paraplegia [DS:H00266]
K07619	Lymphatic malformation [DS:H00535]
K07619	Hypomyelinating leukodystrophy [DS:H00679]
K07620	Charcot-Marie-Tooth disease [DS:H00264]
K07621	Deafness, autosomal dominant [DS:H00604]
K07621	Deafness, autosomal recessive [DS:H00605]
K07621	Bart-Pumphrey syndrome [DS:H00706]
K07621	KID/HID syndrome [DS:H00712]
K07621	Vohwinkel syndrome [DS:H00714]
K07621	Palmoplantar keratoderma with deafness [DS:H00716]
K07622	Deafness, autosomal dominant [DS:H00604]
K07622	Deafness, autosomal recessive [DS:H00605]
K07622	Erythrokeratodermia variabilis [DS:H00710]
K07623	Erythrokeratodermia variabilis [DS:H00710]
K07625	Deafness, autosomal dominant [DS:H00604]
K07625	Deafness, autosomal recessive [DS:H00605]
K07625	Ectodermal dysplasia, Clouston type [DS:H00648]
K07748	Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) [DS:H00496]
K07748	CK syndrome [DS:H01917]
K07750	Microcephaly syndrome [DS:H02132]
K07763	Winchester syndrome [DS:H02089]
K07765	Osteogenesis imperfecta [DS:H00506]
K07765	Ichthyosis follicularis, alopecia, and photophobia syndrome [DS:H00740]
K07765	Keratosis follicularis spinulosa decalvans [DS:H00750]
K07818	Familial hemophagocytic lymphohistiocytosis [DS:H00109]
K07825	Congenital stationary night blindness [DS:H00787]
K07827	Acute myeloid leukemia [DS:H00003]
K07827	Multiple myeloma [DS:H00010]
K07827	Non-small cell lung cancer [DS:H00014]
K07827	Oral cancer [DS:H00016]
K07827	Gastric cancer [DS:H00018]
K07827	Pancreatic cancer [DS:H00019]
K07827	Colorectal cancer [DS:H00020]
K07827	Endometrial cancer [DS:H00026]
K07827	Ovarian cancer [DS:H00027]
K07827	Cervical cancer [DS:H00030]
K07827	Thyroid cancer [DS:H00032]
K07827	Squamous cell carcinoma [DS:H00040]
K07827	Kaposi sarcoma [DS:H00041]
K07827	Cholangiocarcinoma [DS:H00046]
K07827	Gallbladder cancer [DS:H00047]
K07827	Syndromic craniosynostoses [DS:H00458]
K07827	Noonan syndrome and related disorders [DS:H00523]
K07827	Hepatic angiosarcoma [DS:H01557]
K07827	Medullary thyroid cancer [DS:H01592]
K07827	Angiosarcoma [DS:H01666]
K07827	Noonan syndrome [DS:H01738]
K07827	Cardiofaciocutaneous syndrome [DS:H01745]
K07827	Myelodysplastic/myeloproliferative neoplasms [DS:H02410]
K07827	Chronic myelomonocytic leukemia [DS:H02411]
K07827	Atypical chronic myeloid leukemia [DS:H02412]
K07827	Erdheim-Chester disease [DS:H02425]
K07828	Acute myeloid leukemia [DS:H00003]
K07828	Multiple myeloma [DS:H00010]
K07828	Oral cancer [DS:H00016]
K07828	Gastric cancer [DS:H00018]
K07828	Thyroid cancer [DS:H00032]
K07828	Adrenal carcinoma [DS:H00033]
K07828	Melanoma [DS:H00038]
K07828	Autoimmune lymphoproliferative syndromes [DS:H00108]
K07828	Noonan syndrome and related disorders [DS:H00523]
K07828	Myelodysplastic syndrome [DS:H01481]
K07828	Angiosarcoma [DS:H01666]
K07828	Noonan syndrome [DS:H01738]
K07828	Myelodysplastic/myeloproliferative neoplasms [DS:H02410]
K07828	Chronic myelomonocytic leukemia [DS:H02411]
K07828	Atypical chronic myeloid leukemia [DS:H02412]
K07828	Erdheim-Chester disease [DS:H02425]
K07830	Noonan syndrome [DS:H01738]
K07831	Noonan syndrome [DS:H01738]
K07832	Noonan syndrome and related disorders [DS:H00523]
K07832	Noonan syndrome [DS:H01738]
K07843	Pituitary adenomas [DS:H01102]
K07843	Cushing syndrome [DS:H01431]
K07860	Leukocyte adhesion deficiency [DS:H00099]
K07861	Neurodevelopmental disorder with structural brain abnormalities [DS:H02470]
K07868	Early infantile epileptic encephalopathy [DS:H00606]
K07873	Epidermodysplasia verruciformis [DS:H00842]
K07885	Other phagocyte defects [DS:H00101]
K07885	Griscelli syndrome [DS:H02022]
K07897	Charcot-Marie-Tooth disease [DS:H00264]
K07905	Neurodevelopmental disorder with structural brain abnormalities [DS:H02470]
K07910	Warburg micro syndrome [DS:H00792]
K07915	Cone-rod dystrophy and cone dystrophy [DS:H00481]
K07920	Smith-McCort dysplasia [DS:H02497]
K07925	X-linked mental retardation [DS:H00480]
K07934	Bardet-Biedl syndrome [DS:H00418]
K07944	Retinitis pigmentosa [DS:H00527]
K07944	Joubert syndrome [DS:H00530]
K07951	Bardet-Biedl syndrome [DS:H00418]
K07951	Retinitis pigmentosa [DS:H00527]
K07953	Chylomicron retention disease [DS:H00927]
K07962	Joubert syndrome [DS:H00530]
K07965	Urofacial syndrome [DS:H00753]
K07966	Congenital disorders of glycosylation type II [DS:H00119]
K07984	Cherubism [DS:H00497]
K07985	Familial Mediterranean fever [DS:H00288]
K07990	Other well-defined immunodeficiency syndromes [DS:H00107]
K07990	X-linked lymphoproliferative syndrome [DS:H01969]
K07992	Nasu-Hakola disease [DS:H00438]
K07994	Metaphyseal dysplasias [DS:H00479]
K07998	Cavitary optic disc anomalies [DS:H02270]
K07999	Amelogenesis imperfecta [DS:H00615]
K08000	Heterotaxy [DS:H00632]
K08009	Chronic granulomatous disease [DS:H00098]
K08009	Granulibacter infection [DS:H01167]
K08010	Chronic granulomatous disease [DS:H00098]
K08011	Chronic granulomatous disease [DS:H00098]
K08011	Granulibacter infection [DS:H01167]
K08017	Nephrotic syndrome [DS:H01657]
K08018	Familial adult myoclonic epilepsy [DS:H02213]
K08021	Autosomal recessive congenital ichthyosis [DS:H00734]
K08023	Cutis laxa [DS:H00557]
K08023	Tooth agenesis [DS:H00625]
K08023	Weill-Marchesani syndrome [DS:H00673]
K08023	Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities [DS:H00904]
K08023	Primary congenital glaucoma [DS:H01203]
K08024	Type 2 diabetes mellitus [DS:H00409]
K08025	Currarino syndrome [DS:H00463]
K08028	Congenital diarrhea [DS:H01174]
K08031	Aniridia [DS:H00635]
K08031	Ocular coloboma [DS:H01114]
K08031	Anterior segment dysgenesis [DS:H01159]
K08031	Foveal hypoplasia [DS:H01256]
K08031	Autosomal dominant keratitis [DS:H01273]
K08031	Optic nerve hypoplasia [DS:H02203]
K08032	Maturity onset diabetes of the young (MODY) [DS:H00410]
K08032	Ketosis-prone diabetes mellitus [DS:H01224]
K08033	Maturity onset diabetes of the young (MODY) [DS:H00410]
K08034	Type 2 diabetes mellitus [DS:H00409]
K08034	Maturity onset diabetes of the young (MODY) [DS:H00410]
K08034	Autosomal dominant tubulointerstitial kidney disease [DS:H00541]
K08036	Maturity onset diabetes of the young (MODY) [DS:H00410]
K08041	Deafness, autosomal recessive [DS:H00605]
K08043	Genetic obesity [DS:H02106]
K08045	Familial dyskinesia with facial myokymia [DS:H02389]
K08046	Lethal congenital contractural syndrome [DS:H00865]
K08052	Noonan syndrome and related disorders [DS:H00523]
K08052	Neurofibromatosis type 1 [DS:H01437]
K08052	Malignant paraganglioma [DS:H01510]
K08052	Watson syndrome [DS:H02188]
K08052	Neurofibromatosis-Noonan syndrome [DS:H02189]
K08052	Myelodysplastic/myeloproliferative neoplasms [DS:H02410]
K08055	Familial amyloidosis [DS:H00845]
K08055	Hypercatabolic hypoproteinemia [DS:H01303]
K08055	Diffuse large B-cell lymphoma, not otherwise specified [DS:H02434]
K08057	Myelofibrosis [DS:H01605]
K08057	Essential thrombocytosis [DS:H01612]
K08058	Bare lymphocyte syndrome type1 [DS:H00984]
K08060	Combined immunodeficiency [DS:H00093]
K08060	Bare lymphocyte syndrome type2 [DS:H00985]
K08061	Combined immunodeficiency [DS:H00093]
K08061	Bare lymphocyte syndrome type2 [DS:H00985]
K08062	Combined immunodeficiency [DS:H00093]
K08062	Bare lymphocyte syndrome type2 [DS:H00985]
K08063	Combined immunodeficiency [DS:H00093]
K08063	Bare lymphocyte syndrome type2 [DS:H00985]
K08073	Charcot-Marie-Tooth disease [DS:H00264]
K08073	Early infantile epileptic encephalopathy [DS:H00606]
K08073	Ataxia with ocular apraxia [DS:H00848]
K08090	Asthma [DS:H00079]
K08102	Syndromic X-linked mental retardation [DS:H00658]
K08105	Ehlers-Danlos syndrome musculocontractural type [DS:H02246]
K08109	Heparan sulfate proteoglycan gene defects [DS:H00493]
K08109	Simpson-Golabi-Behmel syndrome [DS:H01215]
K08110	Keipert syndrome [DS:H02326]
K08112	Heparan sulfate proteoglycan gene defects [DS:H00493]
K08112	Omodysplasia [DS:H02154]
K08118	Spondyloepimetaphyseal dysplasia [DS:H02187]
K08123	Cornea plana congenita [DS:H01029]
K08129	Congenital stationary night blindness [DS:H00787]
K08131	Multiple epiphyseal dysplasia [DS:H00476]
K08131	Stickler syndrome [DS:H02072]
K08132	Ullrich disease [DS:H01778]
K08132	Ehlers-Danlos syndrome myopathic type [DS:H02247]
K08133	Punctate palmoplantar keratoderma [DS:H01404]
K08134	Osteogenesis imperfecta [DS:H00506]
K08146	Renal hypouricemia [DS:H00948]
K08147	Arterial tortuosity syndrome [DS:H00919]
K08171	Glycogen storage disease [DS:H00069]
K08171	Hepatic glycogen storage disease [DS:H01760]
K08171	Glycogen storage disease type I [DS:H01939]
K08179	Erythrocyte lactate transporter defect [DS:H01248]
K08179	Familial hyperinsulinemic hypoglycemia [DS:H01267]
K08202	Crohn disease [DS:H00286]
K08202	Disorders of mitochondrial fatty-acid oxidation [DS:H00525]
K08202	Systemic primary carnitine deficiency [DS:H01589]
K08208	Renal hypouricemia [DS:H00948]
K08220	Posterior column ataxia with retinitis pigmentosa [DS:H01036]
K08220	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome [DS:H01120]
K08231	Allan-Herndon-Dudley syndrome [DS:H00650]
K08239	Mucolipidosis II [DS:H00143]
K08239	Mucolipidosis III [DS:H02130]
K08268	Tonsillar cancer [DS:H01509]
K08271	Polyhydramnios, megalencephaly, and symptomatic epilepsy [DS:H01112]
K08283	Autosomal dominant mental retardation [DS:H00773]
K08285	Opitz-GBBB syndrome [DS:H00583]
K08288	Polycystic liver disease [DS:H00545]
K08328	Cone-rod dystrophy and cone dystrophy [DS:H00481]
K08328	Retinitis pigmentosa [DS:H00527]
K08339	Autosomal recessive spinocerebellar ataxias [DS:H01891]
K08362	Thyroid hormone resistance syndrome [DS:H00249]
K08367	B-cell acute lymphoblastic leukemia [DS:H00001]
K08367	Acute myeloid leukemia [DS:H00003]
K08367	Chronic myeloid leukemia [DS:H00004]
K08367	Thrombocytopenia (THC) [DS:H00978]
K08367	Myelodysplastic syndrome [DS:H01481]
K08367	Myelodysplastic/myeloproliferative neoplasms [DS:H02410]
K08367	Chronic myelomonocytic leukemia [DS:H02411]
K08367	Atypical chronic myeloid leukemia [DS:H02412]
K08374	Hypogonadotropic hypogonadism [DS:H00255]
K08374	Precocious puberty [DS:H00937]
K08374	Central precocious puberty [DS:H02018]
K08380	Hypogonadotropic hypogonadism [DS:H00255]
K08408	Amelogenesis imperfecta [DS:H00615]
K08422	Chorea, childhood-onset, with psychomotor retardation [DS:H02367]
K08423	Pituitary adenomas [DS:H01102]
K08423	Cushing syndrome [DS:H01431]
K08423	Acromegaly [DS:H01483]
K08423	Pituitary gigantism [DS:H01618]
K08423	Excessive secretion of growth hormone [DS:H01864]
K08425	Genetic obesity [DS:H02106]
K08443	Vibratory urticaria [DS:H01799]
K08450	Polymicrogyria [DS:H00271]
K08451	Congenital bilateral absence of vas deferens [DS:H01033]
K08463	Lethal congenital contractural syndrome [DS:H00865]
K08470	Ocular albinism [DS:H00169]
K08470	Congenital motor nystagmus (CMN) [DS:H00776]
K08474	Alcohol dependence [DS:H01611]
K08486	Febrile seizures [DS:H00783]
K08487	Familial hemophagocytic lymphohistiocytosis [DS:H00109]
K08489	Pseudohypoparathyroidism [DS:H00244]
K08496	Progressive myoclonic epilepsy [DS:H00810]
K08509	CEDNIK syndrome [DS:H00799]
K08510	Congenital myasthenic syndrome [DS:H00770]
K08510	Spastic ataxia [DS:H01351]
K08521	Hypogonadotropic hypogonadism [DS:H00255]
K08521	Fertile eunuch syndrome [DS:H01973]
K08528	Small cell lung cancer [DS:H00013]
K08528	Non-small cell lung cancer [DS:H00014]
K08528	Gastric cancer [DS:H00018]
K08528	Microphthalmia, syndromic [DS:H02170]
K08530	Thyroid cancer [DS:H00032]
K08530	Type 2 diabetes mellitus [DS:H00409]
K08530	Familial partial lipodystrophy [DS:H00420]
K08530	Genetic obesity [DS:H02106]
K08532	Syndromic intellectual developmental disorder [DS:H02463]
K08533	Idiopathic generalized epilepsies [DS:H00808]
K08534	IFN-gamma/IL-12 axis [DS:H00089]
K08537	Progressive familial intrahepatic cholestasis [DS:H00624]
K08539	Tuberculosis [DS:H00342]
K08539	Vitamin D-dependent rickets [DS:H01143]
K08539	Osteoporosis [DS:H01593]
K08546	Retinitis pigmentosa [DS:H00527]
K08546	Vitreoretinal degeneration [DS:H00805]
K08546	Enhanced S-cone syndrome [DS:H02075]
K08546	Goldmann-Favre syndrome [DS:H02341]
K08547	Bosch-Boonstra optic atrophy syndrome [DS:H01378]
K08548	Congenital heart defects, multiple type [DS:H02199]
K08550	Breast cancer [DS:H00031]
K08550	Estrogen resistance syndrome [DS:H02061]
K08551	Ovarian dysgenesis [DS:H00599]
K08553	Deafness, autosomal recessive [DS:H00605]
K08555	Hyperkalemic distal renal tubular acidosis (RTA type 4) [DS:H00243]
K08555	Hypertension exacerbated in pregnancy [DS:H00603]
K08555	High blood pressure [DS:H01633]
K08555	Renal tubular acidosis [DS:H02310]
K08557	Prostate cancer [DS:H00024]
K08557	Spinal and bulbar muscular atrophy (SBMA) [DS:H00062]
K08557	Spinal muscular atrophy [DS:H00455]
K08557	Hypospadias [DS:H02175]
K08557	Androgen insensitivity syndrome [DS:H02177]
K08558	Parkinson disease [DS:H00057]
K08559	Extraskeletal myxoid chondrosarcoma [DS:H00053]
K08560	46,XX testicular disorder of sex development [DS:H00598]
K08560	46,XY gonadal dysgenesis [DS:H00607]
K08560	Premature ovarian failure [DS:H00627]
K08560	Spermatogenic failure [DS:H01282]
K08560	Adrenal insufficiency, NR5A1 related [DS:H02316]
K08562	46,XY gonadal dysgenesis [DS:H00607]
K08562	Addison disease [DS:H01598]
K08562	Adrenal hypoplasia, congenital [DS:H01772]
K08563	Genetic obesity [DS:H02106]
K08573	Calpainopathy [DS:H00592]
K08573	Limb-girdle muscular dystrophy [DS:H00593]
K08574	Autosomal dominant neovascular inflammatory vitreoretinopathy [DS:H01798]
K08579	Type 2 diabetes mellitus [DS:H00409]
K08601	Brooke-Spiegler syndrome [DS:H00827]
K08601	Familial cylindromatosis [DS:H00828]
K08601	Multiple familial trichoepithelioma [DS:H00829]
K08616	Asthma [DS:H00079]
K08618	Ehlers-Danlos syndrome dermatospraxis type [DS:H02244]
K08619	Hennekam lymphangiectasia-lymphedema syndrome [DS:H02169]
K08624	Type 2 diabetes mellitus [DS:H00409]
K08625	Weill-Marchesani syndrome [DS:H00673]
K08627	Thrombotic thrombocytopenic purpura [DS:H00225]
K08631	Weill-Marchesani syndrome [DS:H00673]
K08632	Microcornea, myopic chorioretinal atrophy, and telecanthus [DS:H02445]
K08636	Hypophosphatemic rickets [DS:H00214]
K08636	X-linked dominant hypophosphatemic rickets [DS:H02143]
K08653	Spondyloepiphyseal dysplasia [DS:H02462]
K08666	Amelogenesis imperfecta [DS:H00615]
K08669	Parkinson disease [DS:H00057]
K08669	3-Methylglutaconic aciduria [DS:H00754]
K08670	Autosomal recessive congenital ichthyosis [DS:H00734]
K08670	Ichthyosis with hypotrichosis [DS:H00739]
K08675	CODAS syndrome [DS:H01824]
K08683	2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency [DS:H00925]
K08694	Williams-Beuren syndrome [DS:H01439]
K08718	Retinitis pigmentosa [DS:H00527]
K08727	Atopic dermatitis [DS:H01358]
K08729	Lenz-Majewski syndrome [DS:H01832]
K08733	Maturity onset diabetes of the young (MODY) [DS:H00410]
K08734	Gastric cancer [DS:H00018]
K08734	Colorectal cancer [DS:H00020]
K08734	Endometrial cancer [DS:H00026]
K08734	Ovarian cancer [DS:H00027]
K08734	Mismatch repair deficiency [DS:H00876]
K08735	Colorectal cancer [DS:H00020]
K08735	Ovarian cancer [DS:H00027]
K08735	Mismatch repair deficiency [DS:H00876]
K08736	Colorectal cancer [DS:H00020]
K08737	Colorectal cancer [DS:H00020]
K08737	Mismatch repair deficiency [DS:H00876]
K08738	Thrombocytopenia (THC) [DS:H00978]
K08739	Mismatch repair deficiency [DS:H00876]
K08741	Premature ovarian failure [DS:H00627]
K08745	Ichthyosis prematurity syndrome [DS:H00741]
K08757	Familial amyloidosis [DS:H00845]
K08757	Hypoalphalipoproteinemia [DS:H00930]
K08757	Atherosclerosis [DS:H02505]
K08759	Hyperalphalipoproteinemia [DS:H01199]
K08764	Peroxisomal beta-oxidation enzyme deficiency [DS:H00407]
K08764	Leukoencephalopathy with dystonia and motor neuropathy [DS:H00874]
K08765	Disorders of mitochondrial fatty-acid oxidation [DS:H00525]
K08765	Carnitine palmitoyltransferase I deficiency [DS:H01981]
K08766	Disorders of mitochondrial fatty-acid oxidation [DS:H00525]
K08766	Secondary hyperammonemia [DS:H01400]
K08766	Carnitine palmitoyltransferase II deficiency [DS:H01982]
K08768	Familial partial lipodystrophy [DS:H00420]
K08769	Genetic obesity [DS:H02106]
K08771	Genetic obesity [DS:H02106]
K08774	Colorectal cancer [DS:H00020]
K08774	Hepatocellular carcinoma [DS:H00048]
K08775	Pancreatic cancer [DS:H00019]
K08775	Ovarian cancer [DS:H00027]
K08775	Breast cancer [DS:H00031]
K08775	Fanconi anemia [DS:H00238]
K08775	Fallopian tube cancer [DS:H01554]
K08782	Febrile seizures [DS:H00783]
K08782	Familial epilepsy temporal lobe (ETL) [DS:H00809]
K08784	Age-related macular degeneration [DS:H00821]
K08784	Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy [DS:H01757]
K08788	Myotonic dystrophy [DS:H00568]
K08803	Bladder cancer [DS:H00022]
K08809	Centronuclear myopathy [DS:H00700]
K08810	Autosomal dominant mental retardation [DS:H00773]
K08815	Spinocerebellar ataxia (SCA) [DS:H00063]
K08816	Pontocerebellar hypoplasia [DS:H00897]
K08819	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder [DS:H02454]
K08824	Early infantile epileptic encephalopathy [DS:H00606]
K08825	Autosomal dominant mental retardation [DS:H00773]
K08825	Down syndrome [DS:H01552]
K08825	Abdominal obesity-metabolic syndrome [DS:H02384]
K08828	Endocrine-cerebro-osteodysplasia syndrome [DS:H00972]
K08828	Juvenile myoclonic epilepsy [DS:H02217]
K08829	Retinitis pigmentosa [DS:H00527]
K08834	Deafness, autosomal recessive [DS:H00605]
K08840	Autosomal recessive mental retardation [DS:H00768]
K08844	Parkinson disease [DS:H00057]
K08844	Lewy body dementia (LBD) [DS:H00066]
K08844	Parkinsonian syndrome [DS:H01600]
K08845	Noonan syndrome and related disorders [DS:H00523]
K08845	Noonan syndrome [DS:H01738]
K08845	Erdheim-Chester disease [DS:H02425]
K08848	Lethal-type popliteal pterygium syndrome [DS:H01931]
K08851	Galloway-Mowat syndrome [DS:H01722]
K08857	Short rib-polydactyly syndrome [DS:H00511]
K08857	Short-rib thoracic dysplasia [DS:H02157]
K08860	Permanent neonatal diabetes mellitus [DS:H00512]
K08860	Wolcott-Rallison syndrome [DS:H00766]
K08863	Autosomal recessive microcephaly and chorioretinopathy [DS:H01880]
K08864	Autosomal dominant mental retardation [DS:H00773]
K08867	Hyperkalemic distal renal tubular acidosis (RTA type 4) [DS:H00243]
K08867	Hereditary sensory and autonomic neuropathy [DS:H00265]
K08867	Renal tubular acidosis [DS:H02310]
K08868	ROSAH syndrome [DS:H02482]
K08869	Coenzyme Q10 deficiency [DS:H00999]
K08869	Nephrotic syndrome [DS:H01657]
K08869	Autosomal recessive spinocerebellar ataxias [DS:H01891]
K08874	Deafness, autosomal dominant [DS:H00604]
K08876	Autosomal recessive spinocerebellar ataxias [DS:H01891]
K08879	Charcot-Marie-Tooth disease [DS:H00264]
K08879	Distal hereditary motor neuropathies [DS:H00856]
K08890	Maturity onset diabetes of the young (MODY) [DS:H00410]
K08900	Bjornstad syndrome [DS:H00820]
K08900	Leigh syndrome [DS:H01354]
K08900	GRACILE syndrome [DS:H02007]
K08900	Mitochondrial complex III deficiency [DS:H02086]
K08955	Optic atrophy [DS:H01020]
K08956	Spinocerebellar ataxia (SCA) [DS:H00063]
K08956	Optic atrophy [DS:H01020]
K08956	Spastic ataxia [DS:H01351]
K08959	Familial advanced sleep phase syndrome [DS:H00688]
K09008	Mitochondrial complex I deficiency [DS:H00473]
K09025	Hyperlipoproteinemia, type V [DS:H00157]
K09025	Hyperlipidemia [DS:H01635]
K09025	Primary hyperchylomicronemia [DS:H01784]
K09028	Mycosis fungoides [DS:H01463]
K09035	Multiple myeloma [DS:H00010]
K09035	Cataract [DS:H01202]
K09036	Multicentric carpotarsal osteolysis syndrome [DS:H01865]
K09038	Retinitis pigmentosa [DS:H00527]
K09042	Type 1 diabetes mellitus [DS:H00408]
K09048	Osteogenesis imperfecta [DS:H00506]
K09053	Clear cell sarcoma of soft tissue [DS:H00052]
K09054	Achromatopsia [DS:H00971]
K09055	Acute myeloid leukemia [DS:H00003]
K09055	Myelodysplastic/myeloproliferative neoplasms [DS:H02410]
K09055	Atypical chronic myeloid leukemia [DS:H02412]
K09063	B-cell acute lymphoblastic leukemia [DS:H00001]
K09064	Congenital myopathy [DS:H01810]
K09066	Premature ovarian failure [DS:H00627]
K09067	Congenital central hypoventilation syndrome [DS:H00916]
K09068	T-cell acute lymphoblastic leukemia [DS:H00002]
K09069	Syndromic craniosynostoses [DS:H00458]
K09069	Ablepharon-macrostomia syndrome [DS:H01932]
K09069	Barber-Say syndrome [DS:H01934]
K09069	Saethre-Chotzen syndrome [DS:H01991]
K09069	Focal facial dermal dysplasia [DS:H02083]
K09069	Craniosynostoses [DS:H02160]
K09071	Hypoplastic left heart syndrome [DS:H01272]
K09073	Permanent neonatal diabetes mellitus [DS:H00512]
K09076	Spondylocostal dysostosis [DS:H00517]
K09078	Early infantile epileptic encephalopathy [DS:H00606]
K09083	Persistent hyperplastic primary vitreous [DS:H02112]
K09087	Spondylocostal dysostosis [DS:H00517]
K09093	Retinitis pigmentosa [DS:H00527]
K09095	Congenital polycythemia [DS:H00236]
K09095	Malignant paraganglioma [DS:H01510]
K09100	Genetic obesity [DS:H02106]
K09103	Hypotonia, ataxia, and delayed development syndrome [DS:H02378]
K09105	Renal cell carcinoma [DS:H00021]
K09105	Alveolar soft part sarcoma [DS:H00051]
K09106	Familial combined hyperlipidemia [DS:H00153]
K09106	Hypertriglyceridemia [DS:H01637]
K09109	Neuroblastoma [DS:H00043]
K09109	Feingold syndrome [DS:H00510]
K09113	Williams-Beuren syndrome [DS:H01439]
K09168	Brain malformations with urinary tract defects [DS:H02471]
K09171	Sotos syndrome [DS:H00718]
K09171	Marshall-Smith syndrome [DS:H01834]
K09176	Char syndrome [DS:H00555]
K09176	Branchiooculofacial syndrome [DS:H00817]
K09176	Patent ductus arteriosus [DS:H01630]
K09182	Thrombocytopenia (THC) [DS:H00978]
K09182	Macrothrombocytopenia [DS:H01740]
K09183	Atrial septal defect [DS:H00546]
K09183	Atrioventricular septal defect [DS:H00547]
K09183	Tetralogy of Fallot [DS:H00549]
K09183	Ventricular septal defect [DS:H01926]
K09186	B-cell acute lymphoblastic leukemia [DS:H00001]
K09186	T-cell acute lymphoblastic leukemia [DS:H00002]
K09186	Wiedemann-Steiner syndrome [DS:H01879]
K09187	Kabuki syndrome [DS:H00570]
K09187	Follicular lymphoma [DS:H01613]
K09187	Diffuse large B-cell lymphoma, not otherwise specified [DS:H02434]
K09188	Kleefstra syndrome [DS:H00907]
K09188	Diffuse large B-cell lymphoma, not otherwise specified [DS:H02434]
K09197	Osteogenesis imperfecta [DS:H00506]
K09201	Gabriele-de Vries syndrome [DS:H02490]
K09204	Congenital dyserythropoietic anemias (CDAs) [DS:H00917]
K09208	Chromosome 15q13.3 microdeletion syndrome [DS:H01877]
K09209	Maturity onset diabetes of the young (MODY) [DS:H00410]
K09216	Posterior polymorphous corneal dystrophy [DS:H00961]
K09220	Common variable immunodeficiency [DS:H00088]
K09222	Deafness, autosomal dominant [DS:H00604]
K09222	Hereditary gingival fibromatosis [DS:H01250]
K09223	Neutropenic disorders [DS:H00100]
K09223	Macrothrombocytopenia [DS:H01740]
K09224	Dandy-Walker syndrome [DS:H01678]
K09224	Craniosynostoses [DS:H02160]
K09225	Dandy-Walker syndrome [DS:H01678]
K09228	Transient neonatal diabetes mellitus [DS:H00513]
K09228	Postaxial polydactyly [DS:H01852]
K09232	Permanent neonatal diabetes mellitus [DS:H00512]
K09233	Nephronophthisis [DS:H00537]
K09234	46,XY gonadal dysgenesis [DS:H00607]
K09234	Nephrotic syndrome [DS:H01657]
K09234	Desmoplastic small round cell tumor [DS:H01985]
K09234	Nephroblastoma [DS:H02301]
K09236	Congenital aural atresia [DS:H02115]
K09239	Autosomal dominant mental retardation [DS:H00773]
K09250	Myotonic dystrophy [DS:H00568]
K09254	Hodgkin lymphoma [DS:H00007]
K09257	Spondyloepimetaphyseal dysplasia [DS:H02187]
K09260	Coronary artery disease [DS:H01742]
K09260	Atherosclerosis [DS:H02505]
K09261	Follicular lymphoma [DS:H01613]
K09261	Diffuse large B-cell lymphoma, not otherwise specified [DS:H02434]
K09266	46,XX testicular disorder of sex development [DS:H00598]
K09266	46,XY gonadal dysgenesis [DS:H00607]
K09267	Growth hormone deficiency [DS:H00254]
K09267	Septo-optic dysplasia [DS:H00544]
K09267	46,XX testicular disorder of sex development [DS:H00598]
K09267	Syndromic X-linked mental retardation [DS:H00658]
K09267	X-linked panhypopituitarism [DS:H02038]
K09268	Autosomal dominant mental retardation [DS:H00773]
K09268	Coffin-Siris syndrome [DS:H01403]
K09269	Lamb-Shaffer syndrome [DS:H02156]
K09270	Waardenburg syndrome [DS:H00759]
K09270	Hypotrichosis-lymphedema-telangiectasia syndrome [DS:H02168]
K09270	PCWH syndrome [DS:H02356]
K09273	Childhood-onset neurodegeneration with brain atrophy [DS:H02476]
K09275	Deafness, autosomal dominant [DS:H00604]
K09275	Posterior polymorphous corneal dystrophy [DS:H00961]
K09275	Van der Woude syndrome [DS:H01927]
K09278	Cleidocranial dysplasia [DS:H00521]
K09283	Uterine leiomyoma [DS:H01640]
K09288	Thyroid cancer [DS:H00032]
K09289	Thyroid cancer [DS:H00032]
K09290	Thyroid cancer [DS:H00032]
K09290	Nemaline myopathy [DS:H00698]
K09290	Congenital fiber type disproportion [DS:H00701]
K09290	Cap myopathy [DS:H00702]
K09291	Thyroid cancer [DS:H00032]
K09292	Thyroid cancer [DS:H00032]
K09292	Hereditary spastic paraplegia [DS:H00266]
K09293	Thyroid cancer [DS:H00032]
K09293	Congenital nongoitrous hypothyroidism (CHNG) [DS:H00250]
K09295	Congenital vertical talus [DS:H00929]
K09298	Synpolydactyly [DS:H00459]
K09298	Hand-foot-genital syndrome [DS:H00460]
K09298	Brachydactyly [DS:H00482]
K09298	Ectodermal dysplasia, hair-nail type [DS:H00649]
K09298	Guttmacher syndrome [DS:H00859]
K09298	Brachydactyly-syndactyly syndrome [DS:H00870]
K09298	Syndactyly [DS:H01095]
K09298	VACTERL/VATER association [DS:H01195]
K09299	Fuchs corneal dystrophy [DS:H00960]
K09299	Posterior polymorphous corneal dystrophy [DS:H00961]
K09301	Athabascan brainstem dysgenesis syndrome [DS:H00727]
K09301	Hereditary congenital facial paresis [DS:H02151]
K09302	Microtia hearing impairment and cleft palate (MHICP) [DS:H01286]
K09310	Diencephalic-mesencephalic junction dysplasia syndrome [DS:H02487]
K09313	Early infantile epileptic encephalopathy [DS:H00606]
K09314	Cleft lip and/or cleft palate [DS:H00516]
K09315	Tricho-dento-osseous syndrome [DS:H00487]
K09315	Amelogenesis imperfecta hypoplastic-hypomaturation with taurodontism [DS:H00618]
K09317	Schizencephaly [DS:H01160]
K09318	Microphthalmia, syndromic [DS:H02170]
K09322	Klippel-Feil syndrome [DS:H00852]
K09323	Frontonasal dysplasia [DS:H00528]
K09323	Frontorhiny [DS:H00850]
K09324	Syndromic disorder with short stature [DS:H02481]
K09327	Growth hormone deficiency [DS:H00254]
K09327	Combined pituitary hormone deficiency [DS:H02036]
K09329	Agnathia-otocephaly complex [DS:H02118]
K09330	Congenital fibrosis of the extraocular muscles [DS:H00838]
K09330	Congenital central hypoventilation syndrome [DS:H00916]
K09331	SHOX-related short stature [DS:H00492]
K09332	Microphthalmia [DS:H01027]
K09333	Cone-rod dystrophy and cone dystrophy [DS:H00481]
K09333	Age-related macular degeneration [DS:H00821]
K09334	Frontonasal dysplasia [DS:H00528]
K09335	Keratoconus [DS:H00789]
K09336	Microphthalmia [DS:H01027]
K09337	Cone-rod dystrophy and cone dystrophy [DS:H00481]
K09337	Leber congenital amaurosis [DS:H00837]
K09340	T-cell acute lymphoblastic leukemia [DS:H00002]
K09341	Enlarged parietal foramina/cranium bifidum [DS:H00475]
K09341	Cleft lip and/or cleft palate [DS:H00516]
K09341	Tooth agenesis [DS:H00625]
K09341	Tooth and nail syndrome [DS:H00643]
K09341	Craniosynostoses [DS:H02160]
K09342	Brain-lung-thyroid syndrome [DS:H00913]
K09345	Congenital nongoitrous hypothyroidism (CHNG) [DS:H00250]
K09345	Atrial septal defect [DS:H00546]
K09345	Tetralogy of Fallot [DS:H00549]
K09345	Hypoplastic left heart syndrome [DS:H01272]
K09345	Ventricular septal defect [DS:H01926]
K09346	Persistent truncus arteriosus [DS:H01736]
K09348	Prostate cancer [DS:H00024]
K09349	Oculo-auricular syndrome [DS:H01012]
K09350	Spastic ataxia [DS:H01351]
K09354	Growth hormone deficiency [DS:H00254]
K09354	Septo-optic dysplasia [DS:H00544]
K09354	Combined pituitary hormone deficiency [DS:H02036]
K09355	B-cell acute lymphoblastic leukemia [DS:H00001]
K09355	Congenital anomalies of kidney and urinary tract [DS:H01867]
K09356	Congenital clubfoot [DS:H00903]
K09357	Anterior segment dysgenesis [DS:H01159]
K09357	Cataract [DS:H01202]
K09363	Growth hormone deficiency [DS:H00254]
K09363	Combined pituitary hormone deficiency [DS:H02036]
K09365	Deafness, X-linked [DS:H01209]
K09365	Snijders Blok-Fisher syndrome [DS:H02387]
K09366	Deafness, autosomal dominant [DS:H00604]
K09371	Nail-patella syndrome [DS:H00464]
K09371	Deafness, autosomal dominant [DS:H00604]
K09374	Growth hormone deficiency [DS:H00254]
K09374	Combined pituitary hormone deficiency [DS:H02036]
K09377	Hypertrophic cardiomyopathy [DS:H00292]
K09377	Dilated cardiomyopathy [DS:H00294]
K09379	Congenital insensitivity to pain [DS:H00774]
K09381	Craniofacial-deafness-hand syndrome [DS:H00446]
K09381	Waardenburg syndrome [DS:H00759]
K09381	Congenital myopathy [DS:H01810]
K09382	Tooth agenesis [DS:H00625]
K09382	OFC syndrome [DS:H02046]
K09383	B-cell acute lymphoblastic leukemia [DS:H00001]
K09383	Lymphoplasmacytic lymphoma [DS:H00011]
K09385	Rett syndrome [DS:H00440]
K09396	Axenfeld-Rieger syndrome [DS:H00620]
K09396	Anterior segment dysgenesis [DS:H01159]
K09396	Lymphedema-distichiasis syndrome [DS:H02167]
K09398	Congenital primary aphakia [DS:H00676]
K09398	Familial thoracic aortic aneurysm and dissection [DS:H00801]
K09398	Bamforth-Lazarus syndrome [DS:H01040]
K09398	Anterior segment dysgenesis [DS:H01159]
K09398	Cataract [DS:H01202]
K09399	Alveolar capillary dysplasia with misalignment of pulmonary veins [DS:H00830]
K09401	Thyroid dyshormonogenesis [DS:H00251]
K09402	Primary ciliary dyskinesia [DS:H00564]
K09402	Allergic rhinitis [DS:H01360]
K09405	Premature ovarian failure [DS:H00627]
K09405	Blepharophimosis-ptosis-epicanthus inversus syndrome [DS:H00826]
K09407	T-B+Severe combined immunodeficiency [DS:H00091]
K09407	T-cell immunodeficiency congenital alopecia and nail dystrophy [DS:H01181]
K09409	Speech-language disorder 1 [DS:H00902]
K09417	Cataract [DS:H01202]
K09420	Salivary gland cancer [DS:H01508]
K09431	Prostate cancer [DS:H00024]
K09431	Ewing sarcoma [DS:H00035]
K09434	Craniosynostoses [DS:H02160]
K09435	Prostate cancer [DS:H00024]
K09435	Ewing sarcoma [DS:H00035]
K09436	Ewing sarcoma [DS:H00035]
K09436	Bleeding disorder platelet-type [DS:H01235]
K09437	Ewing sarcoma [DS:H00035]
K09438	Acute myeloid leukemia [DS:H00003]
K09446	Inflammatory bowel disease (IBD) [DS:H01227]
K09446	Systemic sclerosis [DS:H01492]
K09446	Sjogren syndrome [DS:H01502]
K09448	Sveinsson chorioretinal atrophy (SCRA) [DS:H01180]
K09451	Enlarged parietal foramina/cranium bifidum [DS:H00475]
K09451	Frontonasal dysplasia [DS:H00528]
K09451	Craniosynostoses [DS:H02160]
K09452	Lissencephaly [DS:H00268]
K09452	X-linked mental retardation [DS:H00480]
K09452	Early infantile epileptic encephalopathy [DS:H00606]
K09452	West syndrome [DS:H01460]
K09452	Proud syndrome [DS:H01919]
K09452	Partington syndrome [DS:H01920]
K09455	Melanoma [DS:H00038]
K09455	Ocular albinism [DS:H00169]
K09455	Waardenburg syndrome [DS:H00759]
K09455	Tietz syndrome [DS:H01187]
K09478	SBCAD deficiency [DS:H00375]
K09479	VLCAD deficiency [DS:H00392]
K09479	Disorders of mitochondrial fatty-acid oxidation [DS:H00525]
K09492	Bardet-Biedl syndrome [DS:H00418]
K09492	McKusick-Kaufman syndrome [DS:H02180]
K09497	Hereditary sensory and autonomic neuropathy [DS:H00265]
K09501	Osteogenesis imperfecta [DS:H00506]
K09508	Distal hereditary motor neuropathies [DS:H00856]
K09512	Limb-girdle muscular dystrophy [DS:H00593]
K09517	Polycystic kidney disease [DS:H00542]
K09519	Primary ciliary dyskinesia [DS:H00564]
K09523	Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus [DS:H02430]
K09525	Neuronal ceroid lipofuscinosis [DS:H00149]
K09525	Kufs disease [DS:H02276]
K09533	Parkinsonian syndrome [DS:H01600]
K09536	Parkinson disease [DS:H00057]
K09539	3-Methylglutaconic aciduria [DS:H00754]
K09540	Polycystic liver disease [DS:H00545]
K09541	Cataract [DS:H01202]
K09542	Dilated cardiomyopathy [DS:H00294]
K09542	Myofibrillar myopathies [DS:H00595]
K09542	Cataract [DS:H01202]
K09544	Distal hereditary motor neuropathies [DS:H00856]
K09552	Hereditary spastic paraplegia [DS:H00266]
K09557	Dilated cardiomyopathy [DS:H00294]
K09557	Myofibrillar myopathies [DS:H00595]
K09561	Autosomal recessive spinocerebellar ataxias [DS:H01891]
K09571	Major depressive disorder [DS:H01646]
K09572	Williams-Beuren syndrome [DS:H01439]
K09575	Osteogenesis imperfecta [DS:H00506]
K09575	Bruck syndrome [DS:H00514]
K09577	Ehlers-Danlos syndrome kyphoscoliosis type [DS:H02245]
K09580	Cole-Carpenter syndrome [DS:H01572]
K09592	Congenital polycythemia [DS:H00236]
K09593	Deafness, autosomal recessive [DS:H00605]
K09594	Renal cell carcinoma [DS:H00021]
K09594	Birt-Hogg-Dube syndrome [DS:H00818]
K09594	Pneumothorax [DS:H01110]
K09608	Atrial septal defect [DS:H00546]
K09610	Distal arthrogryposis [DS:H00811]
K09624	Autosomal recessive mental retardation [DS:H00768]
K09634	Deafness, autosomal recessive [DS:H00605]
K09634	Bilateral sudden sensorineural hearing loss [DS:H01705]
K09637	Iron-refractory iron deficiency anemia [DS:H01278]
K09653	Tn syndrome [DS:H01188]
K09654	Muscular dystrophy-dystroglycanopathy type A [DS:H00120]
K09654	Muscular dystrophy-dystroglycanopathy [DS:H02307]
K09658	Congenital disorders of glycosylation type I [DS:H00118]
K09659	Congenital disorders of glycosylation type I [DS:H00118]
K09660	Congenital disorders of glycosylation type I [DS:H00118]
K09666	Muscular dystrophy-dystroglycanopathy type A [DS:H00120]
K09666	Retinitis pigmentosa [DS:H00527]
K09666	Limb-girdle muscular dystrophy [DS:H00593]
K09666	Muscular dystrophy-dystroglycanopathy type C [DS:H01959]
K09666	Muscular dystrophy-dystroglycanopathy type B [DS:H01960]
K09666	Muscular dystrophy-dystroglycanopathy [DS:H02307]
K09667	X-linked mental retardation [DS:H00480]
K09668	Muscular dystrophy-dystroglycanopathy type A [DS:H00120]
K09668	Muscular dystrophy-dystroglycanopathy type B [DS:H01960]
K09668	Congenital muscular dystrophy type 1D [DS:H01962]
K09668	Muscular dystrophy-dystroglycanopathy [DS:H02307]
K09671	Macular corneal dystrophy [DS:H00954]
K09672	Peeling skin syndrome [DS:H00737]
K09680	Core neuroacanthocytosis syndromes [DS:H00832]
K09680	Neurodegeneration with brain iron accumulation [DS:H00833]
K09680	Pantothenate kinase-associated neurodegeneration [DS:H02208]
K09680	HARP syndrome [DS:H02209]
K09699	Maple syrup urine disease [DS:H00172]
K09782	Colorectal cancer [DS:H00020]
K09784	Colorectal cancer [DS:H00020]
K09821	Renal tubular dysgenesis [DS:H00575]
K09828	Desmosterolosis [DS:H00617]
K09850	Non-small cell lung cancer [DS:H00014]
K09850	Bladder cancer [DS:H00022]
K09850	Nasopharyngeal cancer [DS:H00054]
K09863	Cataract [DS:H01202]
K09865	Congenital nephrogenic diabetes insipidus [DS:H00252]
K09866	Neuromyelitis optica [DS:H01491]
K09867	Palmoplantar keratoderma, Bothnian type [DS:H02266]
K09881	Mitochondrial DNA depletion syndrome [DS:H00469]
K09881	Cataract [DS:H01202]
K09993	Adrenal carcinoma [DS:H00033]
K09993	Beckwith-Wiedemann syndrome [DS:H00713]
K09993	IMAGE syndrome [DS:H02319]
K09995	Spondylo-megaepiphyseal-metaphyseal dysplasia [DS:H00863]
K10051	Other phagocyte defects [DS:H00101]
K10051	Neutrophil specific granule deficiency [DS:H02024]
K10054	Acute myeloid leukemia [DS:H00003]
K10055	Acute myeloid leukemia [DS:H00003]
K10055	Skeletal defects, genital hypoplasia, and mental retardation [DS:H00969]
K10056	Arrhythmogenic right ventricular cardiomyopathy [DS:H00293]
K10056	Naxos disease [DS:H00669]
K10065	3MC syndrome [DS:H01887]
K10066	3MC syndrome [DS:H01887]
K10067	Idiopathic pulmonary fibrosis [DS:H01299]
K10074	Chronic mucocutaneous candidiasis [DS:H01109]
K10080	Combined deficiency of factors V and VIII [DS:H00221]
K10083	Autosomal recessive mental retardation [DS:H00768]
K10087	Mucolipidosis III [DS:H02130]
K10106	Pseudoxanthoma elasticum [DS:H00560]
K10106	Combined deficiency of vitamin K-dependent clotting factors [DS:H00995]
K10106	Coumarin resistance [DS:H01205]
K10127	Retinoblastoma [DS:H01513]
K10140	Disorders of nucleotide excision repair [DS:H00403]
K10140	Xeroderma pigmentosum [DS:H01428]
K10147	Syndromic intellectual developmental disorder [DS:H02463]
K10149	Split-hand/foot malformation [DS:H00471]
K10149	Cleft lip and/or cleft palate [DS:H00516]
K10149	Ectrodactyly-ectodermal dysplasia cleft-palate syndrome [DS:H00638]
K10149	Limb-mammary syndrome [DS:H00640]
K10149	ADULT syndrome [DS:H00641]
K10149	Ankyloblepharon-ctodermal defects-cleft lip/palate (AEC) syndrome and Rapp-Hodgkin syndrome [DS:H00752]
K10151	Testicular cancer [DS:H00023]
K10151	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome [DS:H01885]
K10152	Multiple myeloma [DS:H00010]
K10154	Cleft lip and/or cleft palate [DS:H00516]
K10154	Popliteal pterygium syndrome (PPS) [DS:H00611]
K10154	Van der Woude syndrome [DS:H01927]
K10155	IFN-gamma/IL-12 axis [DS:H00089]
K10158	Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [DS:H01498]
K10159	Leprosy [DS:H00344]
K10159	Atopic dermatitis [DS:H01358]
K10160	Age-related macular degeneration [DS:H00821]
K10161	Atopic dermatitis [DS:H01358]
K10163	Other well-defined immunodeficiency syndromes [DS:H00107]
K10163	Permanent neonatal diabetes mellitus [DS:H00512]
K10163	IPEX syndrome [DS:H01971]
K10165	Blau syndrome [DS:H00285]
K10165	Crohn disease [DS:H00286]
K10165	Inflammatory bowel disease (IBD) [DS:H01227]
K10165	Sarcoidosis, early-onset [DS:H01309]
K10165	Atopic dermatitis [DS:H01358]
K10166	Asthma with nasal polyps and aspirin intolerance [DS:H01191]
K10168	Systemic lupus erythematosus [DS:H00080]
K10172	Sacral agenesis with vertebral anomalies [DS:H02324]
K10173	Polymicrogyria [DS:H00271]
K10174	Intellectual developmental disorder with autism and speech delay [DS:H02371]
K10175	Other well-defined immunodeficiency syndromes [DS:H00107]
K10175	Tetralogy of Fallot [DS:H00549]
K10175	Velocardiofacial syndrome [DS:H01004]
K10175	DiGeorge syndrome [DS:H01524]
K10175	22q11.2 deletion syndrome [DS:H01525]
K10177	Ulnar-mammary syndrome [DS:H00637]
K10178	Ischiocoxopodopatellar syndrome [DS:H00461]
K10179	Holt-Oram syndrome [DS:H00433]
K10180	Spondylocostal dysostosis [DS:H00517]
K10182	Cousin syndrome [DS:H00873]
K10183	Congenital anomalies of kidney and urinary tract [DS:H01867]
K10184	Adrenocorticotropic hormone deficiency [DS:H01011]
K10185	Atrial septal defect [DS:H00546]
K10186	Cleft palate with ankyloglossia [DS:H00909]
K10207	46,XY disorder of sex development due to testosterone secretion defect [DS:H00608]
K10214	Congenital bile acid synthesis defect [DS:H00628]
K10244	Spinocerebellar ataxia (SCA) [DS:H00063]
K10249	Stargardt disease [DS:H00819]
K10258	Autosomal recessive mental retardation [DS:H00768]
K10269	Intellectual developmental disorder with short stature, facial anomalies, and speech defects [DS:H02346]
K10270	Mitochondrial DNA depletion syndrome [DS:H00469]
K10293	Parkinson disease [DS:H00057]
K10297	Syndromic intellectual developmental disorder [DS:H02463]
K10308	Autosomal recessive mental retardation [DS:H00768]
K10313	Distal hereditary motor neuropathies [DS:H00856]
K10332	Primary open angle glaucoma [DS:H00612]
K10351	Hypertrophic cardiomyopathy [DS:H00292]
K10352	MYH9-related disease [DS:H00233]
K10352	Epstein syndrome [DS:H00578]
K10352	Deafness, autosomal dominant [DS:H00604]
K10352	Familial thoracic aortic aneurysm and dissection [DS:H00801]
K10352	Patent ductus arteriosus [DS:H01630]
K10352	Macrothrombocytopenia [DS:H01740]
K10352	May-Hegglin anomaly [DS:H02051]
K10352	Sebastian syndrome [DS:H02052]
K10352	Fechtner syndrome [DS:H02053]
K10354	Nemaline myopathy [DS:H00698]
K10354	Congenital fiber type disproportion [DS:H00701]
K10354	Cap myopathy [DS:H00702]
K10356	Focal segmental glomerulosclerosis [DS:H00626]
K10357	Other phagocyte defects [DS:H00101]
K10357	Congenital diarrhea [DS:H01174]
K10357	Griscelli syndrome [DS:H02022]
K10358	Deafness, autosomal dominant [DS:H00604]
K10358	Deafness, autosomal recessive [DS:H00605]
K10359	Deafness, autosomal dominant [DS:H00604]
K10359	Deafness, autosomal recessive [DS:H00605]
K10359	Usher syndrome (US) [DS:H00779]
K10360	Congenital myasthenic syndrome [DS:H00770]
K10360	Celiac disease [DS:H02123]
K10361	Deafness, autosomal recessive [DS:H00605]
K10362	Klippel-Feil syndrome [DS:H00852]
K10366	Dilated cardiomyopathy [DS:H00294]
K10366	Dystrophinopathies [DS:H00562]
K10366	Duchenne muscular dystrophy [DS:H01963]
K10366	Becker muscular dystrophy [DS:H01964]
K10372	Nemaline myopathy [DS:H00698]
K10373	Hypertrophic cardiomyopathy [DS:H00292]
K10373	Dilated cardiomyopathy [DS:H00294]
K10373	Left ventricular noncompaction [DS:H01216]
K10374	Nemaline myopathy [DS:H00698]
K10374	Cap myopathy [DS:H00702]
K10374	Distal arthrogryposis [DS:H00811]
K10378	Cataract [DS:H01202]
K10379	Cataract [DS:H01202]
K10380	Hereditary spherocytosis [DS:H00230]
K10380	Long QT syndrome [DS:H00720]
K10380	Autosomal recessive mental retardation [DS:H00768]
K10381	Arrhythmogenic right ventricular cardiomyopathy [DS:H00293]
K10381	Epidermolysis bullosa simplex [DS:H00584]
K10381	Striate palmoplantar keratoderma [DS:H00717]
K10381	Skin fragility-woolly hair syndrome [DS:H00893]
K10381	Carvajal syndrome [DS:H02094]
K10382	Hereditary sensory and autonomic neuropathy [DS:H00265]
K10384	Ichthyosis vulgaris [DS:H00735]
K10384	Peeling skin syndrome [DS:H00737]
K10384	Atopic dermatitis [DS:H01358]
K10385	Vohwinkel syndrome [DS:H00714]
K10387	Ectodermal dysplasia/skin fragility syndrome [DS:H00644]
K10388	Epidermolysis bullosa, hemidesmosomal [DS:H00585]
K10388	Limb-girdle muscular dystrophy [DS:H00593]
K10389	Complex cortical dysplasia with other brain malformations [DS:H01881]
K10392	Charcot-Marie-Tooth disease [DS:H00264]
K10392	Hereditary sensory and autonomic neuropathy [DS:H00265]
K10392	Hereditary spastic paraplegia [DS:H00266]
K10392	Autosomal dominant mental retardation [DS:H00773]
K10392	Spastic ataxia [DS:H01351]
K10393	Complex cortical dysplasia with other brain malformations [DS:H01881]
K10395	X-linked mental retardation [DS:H00480]
K10396	Hereditary spastic paraplegia [DS:H00266]
K10396	Complex cortical dysplasia with other brain malformations [DS:H01881]
K10398	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation [DS:H01876]
K10403	SEMD with joint laxity type [DS:H01494]
K10407	Spastic paraplegia, optic atrophy, and neuropathy [DS:H02114]
K10408	Primary ciliary dyskinesia [DS:H00564]
K10408	Spermatogenic failure [DS:H01282]
K10409	Primary ciliary dyskinesia [DS:H00564]
K10411	Primary ciliary dyskinesia [DS:H00564]
K10412	Congenital mirror movements [DS:H01287]
K10413	Charcot-Marie-Tooth disease [DS:H00264]
K10413	Spinal muscular atrophy [DS:H00455]
K10413	Autosomal dominant mental retardation [DS:H00773]
K10414	Short rib-polydactyly syndrome [DS:H00511]
K10414	Asphyxiating thoracic dystrophy [DS:H00751]
K10414	Short-rib thoracic dysplasia [DS:H02157]
K10415	Neurodevelopmental disorder with microcephaly [DS:H02461]
K10417	Short-rib thoracic dysplasia [DS:H02157]
K10422	Williams-Beuren syndrome [DS:H01439]
K10436	Congenital symmetric circumferential skin creases [DS:H01579]
K10443	Hyperkalemic distal renal tubular acidosis (RTA type 4) [DS:H00243]
K10443	Renal tubular acidosis [DS:H02310]
K10445	Retinitis pigmentosa [DS:H00527]
K10445	Cold-induced sweating syndrome [DS:H00935]
K10448	Spermatogenic failure [DS:H01282]
K10452	X-linked mental retardation [DS:H00480]
K10453	Giant axonal neuropathy [DS:H01259]
K10456	Hepatocellular carcinoma [DS:H00048]
K10461	Epidermolysis bullosa simplex [DS:H00584]
K10473	Nemaline myopathy [DS:H00698]
K10484	Fanconi anemia [DS:H00238]
K10486	Neurodevelopmental disorder with structural brain abnormalities [DS:H02470]
K10498	Autosomal recessive mental retardation [DS:H00768]
K10501	Primrose syndrome [DS:H02249]
K10503	Immunodeficiency-centromeric instability-facial anomalies syndrome [DS:H02308]
K10522	Deafness, autosomal dominant [DS:H00604]
K10523	Neurodevelopmental disorder with microcephaly [DS:H02461]
K10532	Mucopolysaccharidosis type III [DS:H00130]
K10532	Mucopolysaccharidosis [DS:H00421]
K10532	Retinitis pigmentosa [DS:H00527]
K10570	Cockayne syndrome [DS:H00076]
K10570	Disorders of nucleotide excision repair [DS:H00403]
K10570	UV-sensitive syndrome [DS:H02131]
K10573	Syndromic X-linked mental retardation [DS:H00658]
K10587	Angelman syndrome [DS:H01732]
K10590	Autosomal dominant mental retardation [DS:H00773]
K10592	Syndromic X-linked mental retardation [DS:H00658]
K10594	Macrocephaly, dysmorphic facies, and psychomotor retardation [DS:H02298]
K10595	Autosomal recessive mental retardation [DS:H00768]
K10602	Progressive myoclonic epilepsy [DS:H00810]
K10602	Lafora disease [DS:H01994]
K10603	Other well-defined immunodeficiency syndromes [DS:H00107]
K10603	Autoimmune polyendocrinopathy syndrome type 1 [DS:H01972]
K10605	Ovarian cancer [DS:H00027]
K10605	Breast cancer [DS:H00031]
K10605	Fanconi anemia [DS:H00238]
K10605	Fallopian tube cancer [DS:H01554]
K10605	Primary peritoneal carcinoma [DS:H01665]
K10606	Fanconi anemia [DS:H00238]
K10607	Bardet-Biedl syndrome [DS:H00418]
K10607	Limb-girdle muscular dystrophy [DS:H00593]
K10608	Mulibrey nanism [DS:H01289]
K10609	Syndromic X-linked mental retardation [DS:H00658]
K10610	Disorders of nucleotide excision repair [DS:H00403]
K10610	Xeroderma pigmentosum [DS:H01428]
K10613	3M syndrome [DS:H00509]
K10625	Johanson-Blizzard syndrome [DS:H00571]
K10628	T-B-Severe combined immunodeficiency [DS:H00092]
K10628	Combined immunodeficiency [DS:H00093]
K10628	T+B+Severe combined immunodeficiencies (SCIDs) [DS:H01244]
K10630	Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis [DS:H01744]
K10631	Retinitis pigmentosa [DS:H00527]
K10641	Charcot-Marie-Tooth disease [DS:H00264]
K10645	Left ventricular noncompaction [DS:H01216]
K10646	Meningioma [DS:H01556]
K10647	X-linked mental retardation [DS:H00480]
K10661	Familial adult myoclonic epilepsy [DS:H02213]
K10706	Amyotrophic lateral sclerosis (ALS) [DS:H00058]
K10706	Ataxia with ocular apraxia [DS:H00848]
K10706	Autosomal recessive spinocerebellar ataxias [DS:H01891]
K10707	Amyotrophic lateral sclerosis (ALS) [DS:H00058]
K10707	Spinal muscular atrophy [DS:H00455]
K10727	Meier-Gorlin syndrome [DS:H01889]
K10730	Defects in RecQ helicases [DS:H00296]
K10730	Syndromic craniosynostoses [DS:H00458]
K10730	RAPADILINO syndrome [DS:H00965]
K10730	Rothmund-Thomson syndrome [DS:H01734]
K10730	Baller-Gerold syndrome [DS:H01993]
K10737	Premature ovarian failure [DS:H00627]
K10738	Ovarian dysgenesis [DS:H00599]
K10742	Seckel syndrome [DS:H00992]
K10742	Progressive external ophthalmoplegia [DS:H01118]
K10743	Aicardi-Goutieres syndrome [DS:H00290]
K10744	Aicardi-Goutieres syndrome [DS:H00290]
K10745	Aicardi-Goutieres syndrome [DS:H00290]
K10747	Immunodeficiency associated with DNA repair defects [DS:H00094]
K10749	Primary ciliary dyskinesia [DS:H00564]
K10749	Meier-Gorlin syndrome [DS:H01889]
K10754	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome [DS:H02366]
K10755	Williams-Beuren syndrome [DS:H01439]
K10761	Autosomal recessive spinocerebellar ataxias [DS:H01891]
K10770	Autosomal recessive mental retardation [DS:H00768]
K10777	Immunodeficiency associated with DNA repair defects [DS:H00094]
K10777	LIG4 syndrome [DS:H02015]
K10779	Pancreatic neuroendocrine tumor [DS:H00045]
K10779	Thalassemia [DS:H00228]
K10779	ATR-X syndrome [DS:H01752]
K10788	Eosinophil peroxidase deficiency [DS:H01094]
K10789	Other phagocyte defects [DS:H00101]
K10789	Myeloperoxidase deficiency [DS:H02025]
K10790	Aicardi-Goutieres syndrome [DS:H00290]
K10790	Familial chilblain lupus (FCL) [DS:H00291]
K10790	Retinal vasculopathy with cerebral leukodystrophy [DS:H01000]
K10803	Autosomal recessive spinocerebellar ataxias [DS:H01891]
K10808	Mitochondrial DNA depletion syndrome [DS:H00469]
K10808	Progressive external ophthalmoplegia [DS:H01118]
K10808	Mitochondrial neurogastrointestinal encephalomyopathy [DS:H01390]
K10809	Thyroid dyshormonogenesis [DS:H00251]
K10838	Disorders of nucleotide excision repair [DS:H00403]
K10838	Xeroderma pigmentosum [DS:H01428]
K10841	Cockayne syndrome [DS:H00076]
K10841	Disorders of nucleotide excision repair [DS:H00403]
K10841	Premature ovarian failure [DS:H00627]
K10841	Age-related macular degeneration [DS:H00821]
K10841	UV-sensitive syndrome [DS:H02131]
K10843	Disorders of nucleotide excision repair [DS:H00403]
K10843	Trichothiodystrophy [DS:H00866]
K10843	Xeroderma pigmentosum [DS:H01428]
K10844	Disorders of nucleotide excision repair [DS:H00403]
K10844	Trichothiodystrophy [DS:H00866]
K10844	Xeroderma pigmentosum [DS:H01428]
K10845	Disorders of nucleotide excision repair [DS:H00403]
K10845	Trichothiodystrophy [DS:H00866]
K10846	Disorders of nucleotide excision repair [DS:H00403]
K10846	Xeroderma pigmentosum [DS:H01428]
K10847	Disorders of nucleotide excision repair [DS:H00403]
K10847	Xeroderma pigmentosum [DS:H01428]
K10848	Fanconi anemia [DS:H00238]
K10848	Disorders of nucleotide excision repair [DS:H00403]
K10848	Xeroderma pigmentosum [DS:H01428]
K10849	Disorders of nucleotide excision repair [DS:H00403]
K10858	Mismatch repair deficiency [DS:H00876]
K10861	Primary ciliary dyskinesia [DS:H00564]
K10862	Autosomal recessive spinocerebellar ataxias [DS:H01891]
K10863	Ataxia with ocular apraxia [DS:H00848]
K10865	Immunodeficiency associated with DNA repair defects [DS:H00094]
K10865	Ataxia-telangiectasia-like syndrome [DS:H02014]
K10866	Nijmegen syndrome [DS:H01344]
K10867	Immunodeficiency associated with DNA repair defects [DS:H00094]
K10867	Nijmegen syndrome [DS:H01344]
K10870	Fanconi anemia [DS:H00238]
K10879	Fanconi anemia [DS:H00238]
K10886	Syndromic disorder with short stature [DS:H02481]
K10887	T-B-Severe combined immunodeficiency [DS:H00092]
K10888	Fanconi anemia [DS:H00238]
K10889	Fanconi anemia [DS:H00238]
K10890	Fanconi anemia [DS:H00238]
K10891	Fanconi anemia [DS:H00238]
K10892	Fanconi anemia [DS:H00238]
K10893	Fanconi anemia [DS:H00238]
K10894	Fanconi anemia [DS:H00238]
K10895	Fanconi anemia [DS:H00238]
K10896	Fanconi anemia [DS:H00238]
K10896	Spermatogenic failure [DS:H01282]
K10897	Fanconi anemia [DS:H00238]
K10900	Defects in RecQ helicases [DS:H00296]
K10900	Werner syndrome [DS:H01733]
K10901	Immunodeficiency associated with DNA repair defects [DS:H00094]
K10901	Defects in RecQ helicases [DS:H00296]
K10901	Bloom syndrome [DS:H01346]
K10901	Microcephaly, growth restriction, and increased sister chromatid exchange [DS:H02492]
K10956	Autosomal dominant tubulointerstitial kidney disease [DS:H00541]
K10956	Familial juvenile hyperuricemic nephropathy [DS:H02011]
K10980	Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation [DS:H00924]
K10988	T-B-Severe combined immunodeficiency [DS:H00092]
K10988	Combined immunodeficiency [DS:H00093]
K10989	Hyper IgM syndromes, autosomal recessive type [DS:H00086]
K11001	Hyperphosphatasia with mental retardation syndrome [DS:H01488]
K11001	Inherited glycosylphosphatidylinositol deficiencies [DS:H01489]
K11067	N-acetylglutamate synthase deficiency [DS:H01032]
K11067	Primary hyperammonemic disorders (Urea cycle disorders) [DS:H01398]
K11086	Cerebrocostomandibular syndrome [DS:H01843]
K11097	Hypotrichosis [DS:H00786]
K11100	Prader-Willi syndrome [DS:H00478]
K11101	Basal cell nevus syndrome [DS:H00895]
K11112	Dyskeratosis congenita [DS:H00507]
K11112	Revesz syndrome [DS:H00921]
K11114	Dyskeratosis congenita [DS:H00507]
K11126	Gastric cancer [DS:H00018]
K11126	Hepatocellular carcinoma [DS:H00048]
K11126	Dyskeratosis congenita [DS:H00507]
K11126	Chromosme 5p deletion syndrome [DS:H00764]
K11126	Aplastic anemia [DS:H01132]
K11126	Idiopathic pulmonary fibrosis [DS:H01299]
K11126	Medulloblastoma [DS:H01667]
K11129	Dyskeratosis congenita [DS:H00507]
K11130	Dyskeratosis congenita [DS:H00507]
K11131	Dyskeratosis congenita [DS:H00507]
K11131	Hoyeraal-Hreidarsson syndrome [DS:H00788]
K11136	Dyskeratosis congenita [DS:H00507]
K11137	You-Hoover-Fong syndrome [DS:H01789]
K11143	Primary ciliary dyskinesia [DS:H00564]
K11152	Retinal dystrophy, juvenile cataracts, and short stature syndrome [DS:H02292]
K11153	Leber congenital amaurosis [DS:H00837]
K11155	Congenital diarrhea [DS:H01174]
K11158	Retinitis pigmentosa [DS:H00527]
K11158	Leber congenital amaurosis [DS:H00837]
K11204	Anemia due to disorders of glutathione metabolism [DS:H00668]
K11218	T-B+Severe combined immunodeficiency [DS:H00091]
K11219	Other well-defined immunodeficiency syndromes [DS:H00107]
K11219	Hyper-IgE syndrome [DS:H01968]
K11220	IFN-gamma/IL-12 axis [DS:H00089]
K11220	Chronic mucocutaneous candidiasis [DS:H01109]
K11222	Systemic sclerosis [DS:H01492]
K11222	Sjogren syndrome [DS:H01502]
K11224	Growth hormone insensitivity with immunodeficiency [DS:H00931]
K11253	Giant cell tumor of bone [DS:H01470]
K11265	Absorptive hypercalciuria [DS:H02340]
K11268	ESCO2-related disorders [DS:H00572]
K11273	Warsaw breakage syndrome [DS:H00914]
K11276	Chronic myelomonocytic leukemia [DS:H02411]
K11284	Sudden infant death with dysgenesis of the testes syndrome [DS:H02174]
K11290	Autosomal dominant mental retardation [DS:H00773]
K11296	Microphthalmia, syndromic [DS:H02170]
K11305	Autosomal dominant mental retardation [DS:H00773]
K11306	Young-Simpson syndrome [DS:H01793]
K11306	Genitopatellar syndrome [DS:H01794]
K11306	Blepharophimosis-mental retardation syndrome [DS:H01795]
K11318	Spinocerebellar ataxia (SCA) [DS:H00063]
K11348	Syndromic intellectual developmental disorder [DS:H02463]
K11351	Mitochondrial complex I deficiency [DS:H00473]
K11351	Microphthalmia with linear skin defects syndrome [DS:H01904]
K11352	Mitochondrial complex I deficiency [DS:H00473]
K11352	Leigh syndrome [DS:H01354]
K11353	Mitochondrial complex I deficiency [DS:H00473]
K11366	X-linked mental retardation [DS:H00480]
K11367	Pilarowski-Bjornsson syndrome [DS:H02507]
K11373	Hereditary sensory and autonomic neuropathy [DS:H00265]
K11373	Familial dysautonomia [DS:H01987]
K11374	Autosomal recessive mental retardation [DS:H00768]
K11375	Aniridia [DS:H00635]
K11405	Cornelia de Lange syndrome [DS:H00631]
K11406	Brachydactyly-mental retardation syndrome [DS:H00561]
K11407	Chondrodysplasia Chassaing-Lacombe type [DS:H02260]
K11420	Kleefstra syndrome [DS:H00907]
K11422	Syndromic neurodevelopmental disorder [DS:H02459]
K11422	Syndromic intellectual developmental disorder [DS:H02463]
K11423	Luscan-Lumish syndrome [DS:H02444]
K11424	Multiple myeloma [DS:H00010]
K11424	4p deletion syndrome [DS:H01773]
K11429	Autosomal dominant mental retardation [DS:H00773]
K11430	Follicular lymphoma [DS:H01613]
K11430	Weaver syndrome [DS:H01751]
K11430	Myelodysplastic/myeloproliferative neoplasms [DS:H02410]
K11430	Chronic myelomonocytic leukemia [DS:H02411]
K11430	Atypical chronic myeloid leukemia [DS:H02412]
K11430	Diffuse large B-cell lymphoma, not otherwise specified [DS:H02434]
K11438	Syndromic disorder with short stature [DS:H02481]
K11446	Syndromic X-linked mental retardation [DS:H00658]
K11446	Autosomal recessive mental retardation [DS:H00768]
K11447	Kabuki syndrome [DS:H00570]
K11447	Medulloblastoma [DS:H01667]
K11448	Neurodevelopmental disorder with dysmorphic facies and skeletal anomalies [DS:H02460]
K11450	Cleft palate, psychomotor retardation, and distinctive facial features [DS:H02381]
K11451	46,XY gonadal dysgenesis [DS:H00607]
K11456	Primary microcephaly [DS:H00269]
K11459	Penile cancer [DS:H00025]
K11462	Cohen-Gibson syndrome [DS:H02477]
K11471	Myelodysplastic syndrome [DS:H01481]
K11471	Bohring-Opitz syndrome [DS:H02047]
K11471	Bainbridge-Ropers syndrome [DS:H02382]
K11471	Myelodysplastic/myeloproliferative neoplasms [DS:H02410]
K11471	Chronic myelomonocytic leukemia [DS:H02411]
K11471	Atypical chronic myeloid leukemia [DS:H02412]
K11471	Neurodevelopmental disorder with dysmorphic facies and skeletal anomalies [DS:H02460]
K11480	Spermatogenic failure [DS:H01282]
K11491	Primary microcephaly [DS:H00269]
K11492	Neurodevelopmental disorder with microcephaly [DS:H02461]
K11494	Retinal dystrophy with or without extraocular anomalies [DS:H02289]
K11498	Primary microcephaly [DS:H00269]
K11499	Stromme syndrome [DS:H01814]
K11502	Primary microcephaly [DS:H00269]
K11502	Seckel syndrome [DS:H00992]
K11512	Syndromic disorder with short stature [DS:H02481]
K11529	D-glyceric aciduria [DS:H02380]
K11538	Isobutyryl-CoA dehydrogenase deficiency [DS:H01279]
K11540	Congenital disorders of glycosylation type I [DS:H00118]
K11540	Early infantile epileptic encephalopathy [DS:H00606]
K11542	Primary microcephaly [DS:H00269]
K11580	Chronic atrial and intestinal dysrhythmia [DS:H02122]
K11583	Spermatogenic failure [DS:H01282]
K11584	Autosomal dominant mental retardation [DS:H00773]
K11588	Rett syndrome [DS:H00440]
K11588	Syndromic X-linked mental retardation [DS:H00658]
K11588	MECP2-related severe neonatal encephalopathy [DS:H01211]
K11588	Autism [DS:H02111]
K11592	Pituitary adenomas [DS:H01102]
K11592	Cushing syndrome [DS:H01431]
K11594	X-linked mental retardation [DS:H00480]
K11599	Keratosis linearis with ichthyosis congenita and sclerosing keratoderma [DS:H00790]
K11643	Sifrim-Hitz-Weiss syndrome [DS:H02328]
K11644	Chromosome 15q24 microdeletion syndrome [DS:H01861]
K11647	Autosomal dominant mental retardation [DS:H00773]
K11647	Rhabdoid predisposition syndrome [DS:H01134]
K11647	Nicolaides-Baraitser syndrome [DS:H01402]
K11647	Coffin-Siris syndrome [DS:H01403]
K11648	Autosomal dominant mental retardation [DS:H00773]
K11648	Rhabdoid predisposition syndrome [DS:H01134]
K11648	Coffin-Siris syndrome [DS:H01403]
K11648	Meningioma [DS:H01556]
K11649	Coffin-Siris syndrome [DS:H01403]
K11650	Coffin-Siris syndrome [DS:H01403]
K11650	Neutrophil specific granule deficiency [DS:H02024]
K11651	Coffin-Siris syndrome [DS:H01403]
K11651	Meningioma [DS:H01556]
K11652	Early infantile epileptic encephalopathy [DS:H00606]
K11652	Syndromic intellectual developmental disorder [DS:H02463]
K11653	Hepatocellular carcinoma [DS:H00048]
K11653	Autosomal dominant mental retardation [DS:H00773]
K11653	Coffin-Siris syndrome [DS:H01403]
K11658	Williams-Beuren syndrome [DS:H01439]
K11661	Floating-Harbor syndrome [DS:H02082]
K11703	Brain small vessel disease [DS:H00877]
K11724	Spermatogenic failure [DS:H01282]
K11728	Neurodevelopmental disorder with dysmorphic facies and skeletal anomalies [DS:H02460]
K11765	Hepatocellular carcinoma [DS:H00048]
K11765	Coffin-Siris syndrome [DS:H01403]
K11778	Congenital disorders of glycosylation type I [DS:H00118]
K11778	Retinitis pigmentosa [DS:H00527]
K11793	Autosomal recessive mental retardation [DS:H00768]
K11797	Syndromic intellectual developmental disorder [DS:H02463]
K11798	X-linked mental retardation [DS:H00480]
K11804	Giant axonal neuropathy [DS:H01259]
K11810	Cataract [DS:H01202]
K11826	Autosomal dominant mental retardation [DS:H00773]
K11827	Familial hypocalciuric hypercalcemia [DS:H02026]
K11830	Mitochondrial DNA depletion syndrome [DS:H00469]
K11839	Pituitary adenomas [DS:H01102]
K11839	Cushing syndrome [DS:H01431]
K11840	X-linked mental retardation [DS:H00480]
K11840	Azoospermia [DS:H00890]
K11840	Spermatogenic failure [DS:H01282]
K11844	Leber congenital amaurosis [DS:H00837]
K11859	Systemic sclerosis [DS:H01492]
K11859	Primary central nervous system lymphoma [DS:H02424]
K11859	Diffuse large B-cell lymphoma, not otherwise specified [DS:H02434]
K11863	Spinocerebellar ataxia (SCA) [DS:H00063]
K11863	Machado-Joseph disease [DS:H01478]
K11866	Microcephaly-capillary malformation syndrome [DS:H01872]
K11976	Gordon Holmes syndrome [DS:H02144]
K11985	Seckel syndrome [DS:H00992]
K11987	Esophageal cancer [DS:H00017]
K11987	Penile cancer [DS:H00025]
K11987	Cholangiocarcinoma [DS:H00046]
K11988	Basal cell carcinoma [DS:H00039]
K11988	Holoprosencephaly [DS:H00267]
K11988	Solitary median maxillary central incisor syndrome [DS:H00652]
K11988	Microphthalmia [DS:H01027]
K11988	Schizencephaly [DS:H01160]
K11989	Brachydactyly [DS:H00482]
K11989	Acrocapitofemoral dysplasia [DS:H00675]
K11990	46,XY gonadal dysgenesis [DS:H00607]
K11997	Charcot-Marie-Tooth disease [DS:H00264]
K12013	Anencephaly [DS:H02120]
K12020	Aniridia [DS:H00635]
K12024	Williams-Beuren syndrome [DS:H01439]
K12035	Congenital hydrocephalus [DS:H01677]
K12040	Congenital diarrhea [DS:H01174]
K12041	X-linked mental retardation [DS:H00480]
K12041	Christianson syndrome [DS:H01914]
K12043	Distal arthrogryposis [DS:H00811]
K12044	Hypertrophic cardiomyopathy [DS:H00292]
K12044	Dilated cardiomyopathy [DS:H00294]
K12044	Restrictive cardiomyopathy [DS:H01219]
K12045	Hypertrophic cardiomyopathy [DS:H00292]
K12045	Dilated cardiomyopathy [DS:H00294]
K12045	Left ventricular noncompaction [DS:H01216]
K12045	Restrictive cardiomyopathy [DS:H01219]
K12046	Distal arthrogryposis [DS:H00811]
K12159	IFN-gamma/IL-12 axis [DS:H00089]
K12160	Cleft lip and/or cleft palate [DS:H00516]
K12162	Hypomyelinating leukodystrophy [DS:H00679]
K12164	Early infantile epileptic encephalopathy [DS:H00606]
K12164	Autosomal recessive spinocerebellar ataxias [DS:H01891]
K12165	Syndromic neurodevelopmental disorder [DS:H02459]
K12166	Spastic paraplegia-psychomotor retardation-seizures syndrome [DS:H02293]
K12168	Syndromic neurodevelopmental disorder [DS:H02459]
K12170	Tenorio syndrome [DS:H01806]
K12185	Hereditary spastic paraplegia [DS:H00266]
K12185	Williams-Beuren syndrome [DS:H01439]
K12192	Amyotrophic lateral sclerosis (ALS) [DS:H00058]
K12192	Frontotemporal lobar degeneration [DS:H00078]
K12194	Cataract [DS:H01202]
K12197	Pontocerebellar hypoplasia [DS:H00897]
K12298	Maturity onset diabetes of the young (MODY) [DS:H00410]
K12301	Sialuria [DS:H00147]
K12302	Deafness, autosomal dominant [DS:H00604]
K12303	Porokeratosis [DS:H01933]
K12304	Desbuquois syndrome [DS:H00494]
K12307	Neuronal ceroid lipofuscinosis [DS:H00149]
K12309	Mucopolysaccharidosis type IV [DS:H00123]
K12309	GM1 gangliosidosis [DS:H00281]
K12309	Mucopolysaccharidosis [DS:H00421]
K12309	Glycoproteinoses [DS:H00422]
K12309	Sphingolipidosis [DS:H00423]
K12309	Gangliosidosis [DS:H00426]
K12311	alpha-Mannosidosis [DS:H00139]
K12311	Glycoproteinoses [DS:H00422]
K12313	Familial thoracic aortic aneurysm and dissection [DS:H00801]
K12313	Moyamoya disease [DS:H01396]
K12313	Patent ductus arteriosus [DS:H01630]
K12314	Hypertrophic cardiomyopathy [DS:H00292]
K12314	Dilated cardiomyopathy [DS:H00294]
K12314	Atrial septal defect [DS:H00546]
K12314	Left ventricular noncompaction [DS:H01216]
K12314	Restrictive cardiomyopathy [DS:H01219]
K12315	Megacystis microcolon intestinal hypoperistalsis syndrome [DS:H01869]
K12316	Glycogen storage disease [DS:H00069]
K12316	Muscle glycogen storage disease [DS:H01762]
K12316	Glycogen storage disease type II [DS:H01940]
K12318	Moyamoya disease [DS:H01396]
K12320	Congenital diarrhea [DS:H01174]
K12320	Irritable bowel syndrome [DS:H01615]
K12321	Cone-rod dystrophy and cone dystrophy [DS:H00481]
K12321	Leber congenital amaurosis [DS:H00837]
K12321	Central areolar choroidal dystrophy [DS:H01768]
K12324	Acromesomelic dysplasia, Maroteaux type [DS:H00470]
K12334	Atrial fibrillation [DS:H00731]
K12344	46,XY disorder of sex development due to testosterone secretion defect [DS:H00608]
K12345	Congenital disorders of glycosylation type I [DS:H00118]
K12347	Tuberculosis [DS:H00342]
K12348	Farber lipogranulomatosis [DS:H00138]
K12348	Sphingolipidosis [DS:H00423]
K12348	Defects in the degradation of sphingomyelin [DS:H00424]
K12350	Niemann-Pick disease type A/B [DS:H00137]
K12350	Sphingolipidosis [DS:H00423]
K12350	Defects in the degradation of sphingomyelin [DS:H00424]
K12353	Neurodevelopmental disorder with microcephaly [DS:H02461]
K12359	Neuronal ceroid lipofuscinosis [DS:H00149]
K12359	Kufs disease [DS:H02276]
K12360	Neuronal ceroid lipofuscinosis [DS:H00149]
K12361	Bleeding disorder platelet-type [DS:H01235]
K12367	Combined immunodeficiency [DS:H00093]
K12373	GM2 gangliosidoses [DS:H00124]
K12373	Gangliosidosis [DS:H00426]
K12373	Tay-Sachs disease [DS:H02016]
K12373	Sandhoff disease [DS:H02017]
K12382	Gaucher disease [DS:H00126]
K12382	Metachromatic leukodystrophy [DS:H00127]
K12382	Krabbe disease [DS:H00135]
K12382	Sphingolipidosis [DS:H00423]
K12382	Combined SAP deficiency [DS:H01239]
K12383	GM2 gangliosidoses [DS:H00124]
K12383	Gangliosidosis [DS:H00426]
K12384	Progressive myoclonic epilepsy [DS:H00810]
K12385	Niemann-Pick disease type C [DS:H00136]
K12386	Cystinosis [DS:H00275]
K12389	Neuronal ceroid lipofuscinosis [DS:H00149]
K12389	Batten disease [DS:H02275]
K12390	Neuronal ceroid lipofuscinosis [DS:H00149]
K12392	KID/HID syndrome [DS:H00712]
K12394	Syndromic X-linked mental retardation [DS:H00658]
K12394	MEDNIK syndrome [DS:H02220]
K12395	Psoriasis [DS:H01656]
K12396	Hermansky-Pudlak syndrome [DS:H00166]
K12397	Hermansky-Pudlak syndrome [DS:H00166]
K12397	Early infantile epileptic encephalopathy [DS:H00606]
K12400	Hereditary spastic paraplegia [DS:H00266]
K12401	Hereditary spastic paraplegia [DS:H00266]
K12402	Hereditary spastic paraplegia [DS:H00266]
K12403	Hereditary spastic paraplegia [DS:H00266]
K12405	Peroxisomal beta-oxidation enzyme deficiency [DS:H00407]
K12405	Perrault syndrome [DS:H02095]
K12405	D-bifunctional protein deficiency [DS:H02098]
K12406	Pyruvate kinase deficiency [DS:H01096]
K12407	Maturity onset diabetes of the young (MODY) [DS:H00410]
K12407	Permanent neonatal diabetes mellitus [DS:H00512]
K12407	Familial hyperinsulinemic hypoglycemia [DS:H01267]
K12408	Congenital bile acid synthesis defect [DS:H00628]
K12409	Sialuria [DS:H00147]
K12409	Distal myopathy [DS:H00594]
K12409	Nonaka distal myopathy (NM) [DS:H00596]
K12457	Primary open angle glaucoma [DS:H00612]
K12459	Type 1 diabetes mellitus [DS:H00408]
K12462	Nephrotic syndrome [DS:H01657]
K12473	Familial hypercholesterolemia [DS:H00155]
K12473	Hyperlipoproteinemia type IIa [DS:H01383]
K12473	Hyperlipidemia [DS:H01635]
K12473	Atherosclerosis [DS:H02505]
K12474	Familial autosomal recessive hypercholesterolemia [DS:H01918]
K12474	Atherosclerosis [DS:H02505]
K12495	X-linked mental retardation [DS:H00480]
K12495	Syndromic intellectual developmental disorder [DS:H02463]
K12496	Charcot-Marie-Tooth disease [DS:H00264]
K12496	Congenital hypomyelinating neuropathy [DS:H02357]
K12496	Dejerine-Sottas disease [DS:H02359]
K12499	Atopic dermatitis [DS:H01358]
K12499	Allergic rhinitis [DS:H01360]
K12504	Coenzyme Q10 deficiency [DS:H00999]
K12505	Coenzyme Q10 deficiency [DS:H00999]
K12557	Distal arthrogryposis [DS:H00811]
K12557	Lethal congenital contractural syndrome [DS:H00865]
K12557	Congenital myopathy [DS:H01810]
K12560	Systemic lupus erythematosus [DS:H00080]
K12562	Centronuclear myopathy [DS:H00700]
K12563	Dilated cardiomyopathy [DS:H00294]
K12563	Sarcoglycanopathies [DS:H00565]
K12563	Limb-girdle muscular dystrophy [DS:H00593]
K12564	Sarcoglycanopathies [DS:H00565]
K12564	Limb-girdle muscular dystrophy [DS:H00593]
K12565	Sarcoglycanopathies [DS:H00565]
K12565	Limb-girdle muscular dystrophy [DS:H00593]
K12566	Sarcoglycanopathies [DS:H00565]
K12566	Limb-girdle muscular dystrophy [DS:H00593]
K12567	Hypertrophic cardiomyopathy [DS:H00292]
K12567	Dilated cardiomyopathy [DS:H00294]
K12567	Limb-girdle muscular dystrophy [DS:H00593]
K12567	Distal myopathy [DS:H00594]
K12567	Tibial muscular dystrophy [DS:H01976]
K12568	Hypertrophic cardiomyopathy [DS:H00292]
K12568	Dilated cardiomyopathy [DS:H00294]
K12568	Left ventricular noncompaction [DS:H01216]
K12569	Emery-Dreifuss muscular dystrophy [DS:H00563]
K12580	Syndromic intellectual developmental disorder [DS:H02463]
K12584	Al-Raqad syndrome [DS:H01878]
K12586	Pontocerebellar hypoplasia [DS:H00897]
K12599	Tricho-hepato-enteric syndrome [DS:H01805]
K12600	Tricho-hepato-enteric syndrome [DS:H01805]
K12604	Holoprosencephaly [DS:H00267]
K12605	Syndromic intellectual developmental disorder [DS:H02463]
K12614	Syndromic intellectual developmental disorder [DS:H02463]
K12615	Autosomal recessive mental retardation [DS:H00768]
K12641	Charcot-Marie-Tooth disease [DS:H00264]
K12641	Dilated cardiomyopathy [DS:H00294]
K12641	Familial partial lipodystrophy [DS:H00420]
K12641	Emery-Dreifuss muscular dystrophy [DS:H00563]
K12641	Congenital muscular dystrophies (CMD/MDC) [DS:H00590]
K12641	Hutchinson-Gilford progeria syndrome [DS:H00601]
K12641	Restrictive dermopathy [DS:H00663]
K12641	Mandibuloacral dysplasia [DS:H00665]
K12642	Arrhythmogenic right ventricular cardiomyopathy [DS:H00293]
K12646	Singleton-Merten syndrome [DS:H01571]
K12647	Aicardi-Goutieres syndrome [DS:H00290]
K12647	Type 1 diabetes mellitus [DS:H00408]
K12647	Singleton-Merten syndrome [DS:H01571]
K12654	STING-associated vasculopathy with onset in infancy [DS:H01746]
K12657	Hereditary spastic paraplegia [DS:H00266]
K12657	Cutis laxa [DS:H00557]
K12657	Secondary hyperammonemia [DS:H01400]
K12662	Retinitis pigmentosa [DS:H00527]
K12665	Focal facial dermal dysplasia [DS:H02083]
K12669	Autosomal recessive mental retardation [DS:H00768]
K12670	Congenital disorders of glycosylation type I [DS:H00118]
K12671	Allergic rhinitis [DS:H01360]
K12672	Allergic rhinitis [DS:H01360]
K12737	Retinitis pigmentosa with skeletal anomalies [DS:H02422]
K12741	Amyotrophic lateral sclerosis (ALS) [DS:H00058]
K12741	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia [DS:H02031]
K12749	Hypertrophic cardiomyopathy [DS:H00292]
K12750	Atrial fibrillation [DS:H00731]
K12791	Neurodevelopmental disorder with structural brain abnormalities [DS:H02470]
K12794	Chronic mucocutaneous candidiasis [DS:H01109]
K12798	Vitiligo [DS:H01372]
K12800	Cryopyrin associated periodic syndrome [DS:H00282]
K12800	Anaphylaxis [DS:H01359]
K12800	Familial cold autoinflammatory syndrome [DS:H02159]
K12801	Inflammatory bowel disease (IBD) [DS:H01227]
K12803	Familial Mediterranean fever [DS:H00288]
K12803	Adult onset Still disease [DS:H01516]
K12804	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne syndrome [DS:H00287]
K12805	Autoinflammation with infantile enterocolitis [DS:H01748]
K12805	Familial cold autoinflammatory syndrome [DS:H02159]
K12815	Retinitis pigmentosa [DS:H00527]
K12828	Myelodysplastic syndrome [DS:H01481]
K12828	Myelodysplastic/myeloproliferative neoplasms [DS:H02410]
K12828	Chronic myelomonocytic leukemia [DS:H02411]
K12831	Acrofacial dysostosis [DS:H01376]
K12836	Myelodysplastic syndrome [DS:H01481]
K12836	Myelodysplastic/myeloproliferative neoplasms [DS:H02410]
K12836	Chronic myelomonocytic leukemia [DS:H02411]
K12838	Verheij syndrome [DS:H01800]
K12843	Retinitis pigmentosa [DS:H00527]
K12844	Retinitis pigmentosa [DS:H00527]
K12852	Mandibulofacial dysostosis with microcephaly [DS:H01838]
K12854	Retinitis pigmentosa [DS:H00527]
K12855	Retinitis pigmentosa [DS:H00527]
K12856	Retinitis pigmentosa [DS:H00527]
K12859	Burn-McKeown syndrome [DS:H01839]
K12865	Renpenning syndrome [DS:H01913]
K12876	Thrombocytopenia-absent radius syndrome [DS:H01847]
K12879	X-linked mental retardation [DS:H00480]
K12885	Syndromic X-linked mental retardation [DS:H00658]
K12886	Au-Kline syndrome [DS:H01930]
K12888	Early infantile epileptic encephalopathy [DS:H00606]
K12891	Myelodysplastic syndrome [DS:H01481]
K12891	Myelodysplastic/myeloproliferative neoplasms [DS:H02410]
K12891	Chronic myelomonocytic leukemia [DS:H02411]
K12891	Atypical chronic myeloid leukemia [DS:H02412]
K12898	Syndromic X-linked mental retardation [DS:H00658]
K12959	Limb-girdle muscular dystrophy 1C [DS:H00567]
K12959	Distal myopathy [DS:H00594]
K12959	Long QT syndrome [DS:H00720]
K12959	Rippling muscle disease [DS:H02179]
K12959	Idiopathic hyperCKemia [DS:H02181]
K12959	Distal myopathy, Tateyama type [DS:H02182]
K12968	Aicardi-Goutieres syndrome [DS:H00290]
K12968	Dyschromatosis symmetrica hereditaria [DS:H00880]
K13024	Deafness, autosomal recessive [DS:H00605]
K13025	Richieri-Costa-Pereira syndrome [DS:H02503]
K13044	Limb-girdle muscular dystrophy [DS:H00593]
K13050	Familial hypercholesterolemia [DS:H00155]
K13050	Atherosclerosis [DS:H02505]
K13055	Premature ovarian failure [DS:H00627]
K13094	TARP syndrome [DS:H00943]
K13098	Amyotrophic lateral sclerosis (ALS) [DS:H00058]
K13098	Essential tremor [DS:H01577]
K13119	Syndromic X-linked mental retardation [DS:H00658]
K13122	Facioscapulohumeral muscular dystrophy [DS:H00591]
K13127	Trichothiodystrophy [DS:H00866]
K13129	Spinal muscular atrophy [DS:H00455]
K13132	Neurodevelopmental disorder with microcephaly [DS:H02461]
K13138	Syndromic neurodevelopmental disorder [DS:H02459]
K13145	Neurodevelopmental disorder with structural brain abnormalities [DS:H02470]
K13158	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia [DS:H02031]
K13175	Beaulieu-Boycott-Innes syndrome [DS:H02253]
K13185	Syndromic neurodevelopmental disorder [DS:H02459]
K13194	Neurodevelopmental disorder with microcephaly [DS:H02461]
K13196	Coffin-Siris syndrome [DS:H01403]
K13201	Distal myopathy [DS:H00594]
K13201	Welander distal myopathy [DS:H01975]
K13202	Pontocerebellar hypoplasia [DS:H00897]
K13213	Amyotrophic lateral sclerosis (ALS) [DS:H00058]
K13214	Syndromic X-linked mental retardation [DS:H00658]
K13241	Esophageal cancer [DS:H00017]
K13242	Avascular necrosis of femoral head [DS:H01529]
K13254	Hereditary spastic paraplegia [DS:H00266]
K13273	Porokeratosis [DS:H01933]
K13279	Methylmalonic aciduria and homocystinuria [DS:H02221]
K13289	Galactosialidosis [DS:H00276]
K13289	Glycoproteinoses [DS:H00422]
K13293	Acrodysostosis [DS:H02211]
K13298	Pigmented micronodular adrenocortical disease [DS:H00260]
K13298	Cushing syndrome [DS:H01431]
K13298	Bilateral macronodular adrenal hyperplasia [DS:H02049]
K13305	Periventricular nodular heterotopia [DS:H00270]
K13335	Peroxisome biogenesis disorder [DS:H00205]
K13335	Zellweger syndrome [DS:H01342]
K13336	Peroxisome biogenesis disorder [DS:H00205]
K13336	Zellweger syndrome [DS:H01342]
K13337	Peroxisome biogenesis disorder [DS:H00205]
K13337	Zellweger syndrome [DS:H01342]
K13338	Neonatal adrenoleukodystrophy [DS:H00177]
K13338	Infantile Refsum disease [DS:H00204]
K13338	Peroxisome biogenesis disorder [DS:H00205]
K13338	Zellweger syndrome [DS:H01342]
K13339	Peroxisome biogenesis disorder [DS:H00205]
K13339	Zellweger syndrome [DS:H01342]
K13339	Roifman syndrome [DS:H01575]
K13340	Neonatal adrenoleukodystrophy [DS:H00177]
K13340	Infantile Refsum disease [DS:H00204]
K13340	Peroxisome biogenesis disorder [DS:H00205]
K13340	Zellweger syndrome [DS:H01342]
K13341	Refsum disease [DS:H00075]
K13341	Peroxisome biogenesis disorder [DS:H00205]
K13341	Rhizomelic chondrodysplasia punctata [DS:H00207]
K13342	Neonatal adrenoleukodystrophy [DS:H00177]
K13342	Peroxisome biogenesis disorder [DS:H00205]
K13342	Rhizomelic chondrodysplasia punctata [DS:H00207]
K13342	Zellweger syndrome [DS:H01342]
K13343	Peroxisome biogenesis disorder [DS:H00205]
K13343	Zellweger syndrome [DS:H01342]
K13344	Neonatal adrenoleukodystrophy [DS:H00177]
K13344	Peroxisome biogenesis disorder [DS:H00205]
K13344	Zellweger syndrome [DS:H01342]
K13345	Peroxisome biogenesis disorder [DS:H00205]
K13345	Zellweger syndrome [DS:H01342]
K13346	Neonatal adrenoleukodystrophy [DS:H00177]
K13346	Peroxisome biogenesis disorder [DS:H00205]
K13346	Zellweger syndrome [DS:H01342]
K13347	Roussy-Levy syndrome [DS:H01155]
K13348	Charcot-Marie-Tooth disease [DS:H00264]
K13348	Mitochondrial DNA depletion syndrome [DS:H00469]
K13356	Rhizomelic chondrodysplasia punctata [DS:H00207]
K13356	Peroxisomal fatty acyl-CoA reductase 1 disorder [DS:H02100]
K13365	Nephrolithiasis/osteoporosis, hypophosphatemic [DS:H00888]
K13375	Allograft rejection [DS:H00083]
K13375	Graft-versus-host disease [DS:H00084]
K13375	Camurati-Engelmann disease [DS:H00434]
K13375	Osteoporosis [DS:H01593]
K13376	Allograft rejection [DS:H00083]
K13376	Graft-versus-host disease [DS:H00084]
K13376	Loeys-Dietz syndrome [DS:H00800]
K13377	Allograft rejection [DS:H00083]
K13377	Graft-versus-host disease [DS:H00084]
K13377	Arrhythmogenic right ventricular cardiomyopathy [DS:H00293]
K13377	Ossification of the posterior longitudinal ligament of spine [DS:H00431]
K13377	Loeys-Dietz syndrome [DS:H00800]
K13377	Rienhoff syndrome [DS:H01385]
K13411	Thyroid dyshormonogenesis [DS:H00251]
K13421	Orotic aciduria [DS:H00198]
K13443	Niemann-Pick disease type C [DS:H00136]
K13444	Multiple sulfatase deficiency [DS:H00272]
K13444	Sphingolipidosis [DS:H00423]
K13499	Temtamy preaxial brachydactyly syndrome [DS:H01497]
K13504	Syndromic neurodevelopmental disorder [DS:H02459]
K13509	Congenital generalized lipodystrophy [DS:H00419]
K13511	Dilated cardiomyopathy [DS:H00294]
K13511	Barth syndrome [DS:H00654]
K13511	3-Methylglutaconic aciduria [DS:H00754]
K13516	Autosomal recessive mental retardation [DS:H00768]
K13524	GABA-transaminase deficiency [DS:H01257]
K13525	Amyotrophic lateral sclerosis (ALS) [DS:H00058]
K13525	Frontotemporal lobar degeneration [DS:H00078]
K13525	Charcot-Marie-Tooth disease [DS:H00264]
K13525	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia [DS:H02031]
K13526	Parkinson disease [DS:H00057]
K13526	Hereditary spastic paraplegia [DS:H00266]
K13526	Parkinsonian syndrome [DS:H01600]
K13526	Kufor-Rakeb syndrome [DS:H02207]
K13534	Non-alcoholic fatty liver disease [DS:H01333]
K13575	Proximal renal tubular acidosis (RTA type 2) [DS:H00429]
K13575	Renal tubular acidosis [DS:H02310]
K13577	Mitochondrial DNA depletion syndrome [DS:H00469]
K13578	Acromesomelic dysplasia, Demirhan type [DS:H00468]
K13578	Brachydactyly [DS:H00482]
K13594	Hereditary hemorrhagic telangiectasia [DS:H00533]
K13594	Pulmonary arterial hypertension [DS:H01621]
K13596	Heterotaxy [DS:H00632]
K13619	Hereditary spastic paraplegia [DS:H00266]
K13624	Aceruloplasminemia [DS:H02206]
K13625	Neurodegeneration with brain iron accumulation [DS:H00833]
K13625	Neuroferritinopathy [DS:H01779]
K13625	Hereditary hyperferritinaemia-cataract syndrome [DS:H02204]
K13645	Bruck syndrome [DS:H00514]
K13646	Lysyl hydroxylase 3 deficiency [DS:H01192]
K13649	Neurodegeneration due to cerebral folate transport deficiency [DS:H01295]
K13667	Limb-girdle muscular dystrophy [DS:H00593]
K13675	Peters anomaly [DS:H01075]
K13699	Dorfman-Chanarin syndrome [DS:H00736]
K13703	Williams-Beuren syndrome [DS:H01439]
K13704	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [DS:H01115]
K13728	Fanconi anemia [DS:H00238]
K13738	Focal segmental glomerulosclerosis [DS:H00626]
K13749	Congenital stationary night blindness [DS:H00787]
K13752	Amelogenesis imperfecta [DS:H00615]
K13753	Oculocutaneous albinism [DS:H00168]
K13755	Deafness, autosomal dominant [DS:H00604]
K13756	Retinitis pigmentosa [DS:H00527]
K13756	Congenital stationary night blindness [DS:H00787]
K13757	Cone-rod dystrophy and cone dystrophy [DS:H00481]
K13757	Achromatopsia [DS:H00971]
K13758	Joubert syndrome [DS:H00530]
K13759	Retinitis pigmentosa [DS:H00527]
K13760	Cone-rod dystrophy and cone dystrophy [DS:H00481]
K13760	Achromatopsia [DS:H00971]
K13765	Bradyopsia [DS:H00973]
K13769	Adrenal carcinoma [DS:H00033]
K13769	Hepatocellular carcinoma [DS:H00048]
K13769	Russell-Silver syndrome [DS:H00711]
K13769	Beckwith-Wiedemann syndrome [DS:H00713]
K13801	Myopia [DS:H02041]
K13811	Brachyolmia [DS:H00522]
K13811	SEMD, Pakistani type [DS:H00761]
K13822	Thalassemia [DS:H00228]
K13823	Thalassemia [DS:H00228]
K13823	Sickle cell anemia [DS:H00229]
K13824	Thalassemia [DS:H00228]
K13862	Fuchs corneal dystrophy [DS:H00960]
K13862	Congenital hereditary endothelial dystrophy [DS:H00963]
K13867	Lysinuric protein intolerance [DS:H00899]
K13867	Secondary hyperammonemia [DS:H01400]
K13868	Cystinuria [DS:H00901]
K13871	Retinitis pigmentosa [DS:H00527]
K13878	Retinitis pigmentosa [DS:H00527]
K13878	Vitreoretinal degeneration [DS:H00805]
K13878	Vitelliform macular dystrophy [DS:H00814]
K13878	Autosomal dominant vitreoretinochoroidopathy [DS:H02078]
K13882	T-B+Severe combined immunodeficiency [DS:H00091]
K13899	Age-related macular degeneration [DS:H00821]
K13899	Cerebral amyloid angiopathy [DS:H01185]
K13902	Ectodermal dysplasia [DS:H02456]
K13907	Peeling skin syndrome [DS:H00737]
K13907	Progressive myoclonic epilepsy [DS:H00810]
K13907	Unverricht-Lundborg disease [DS:H01995]
K13908	Idiopathic pulmonary fibrosis [DS:H01299]
K13915	Familial amyloidosis [DS:H00845]
K13937	Cortisone reductase deficiency [DS:H01111]
K13951	Alcohol dependence [DS:H01611]
K13960	Fanconi anemia [DS:H00238]
K13963	Deafness, autosomal recessive [DS:H00605]
K13964	Palmoplantar keratoderma, Nagashima type [DS:H02264]
K13965	Peeling skin syndrome [DS:H00737]
K13990	Formiminotransferase deficiency [DS:H01262]
K13997	Pyruvate dehydrogenase complex deficiency [DS:H00072]
K13997	Pyruvate dehydrogenase E3-binding protein deficiency [DS:H02003]
K14001	Marinesco-Sjogren syndrome [DS:H01284]
K14005	Neurodevelopmental disorder with structural brain abnormalities [DS:H02470]
K14006	Congenital dyserythropoietic anemias (CDAs) [DS:H00917]
K14006	Cranio-lenticulo-sutural dysplasia [DS:H01105]
K14006	Cowden syndrome [DS:H01222]
K14007	Cole-Carpenter syndrome [DS:H01572]
K14009	Deafness, dystonia, and cerebral hypomyelination [DS:H02287]
K14018	Neurodevelopmental disorder with microcephaly [DS:H02461]
K14020	Type 2 diabetes mellitus [DS:H00409]
K14020	Deafness, autosomal dominant [DS:H00604]
K14020	Wolfram syndrome [DS:H00854]
K14020	Cataract [DS:H01202]
K14020	Bilateral sudden sensorineural hearing loss [DS:H01705]
K14073	Pancreatic lipase deficiency [DS:H02330]
K14078	Congenital diarrhea [DS:H01174]
K14085	Pyridoxine-dependent epilepsy [DS:H01247]
K14139	Crohn disease [DS:H00286]
K14139	Inflammatory bowel disease (IBD) [DS:H01227]
K14156	Congenital muscular dystrophies (CMD/MDC) [DS:H00590]
K14157	Hyperlysinemia [DS:H00188]
K14157	Saccharopinuria [DS:H01242]
K14158	Congenital glucose-galactose malabsorption [DS:H01261]
K14163	Hypomyelinating leukodystrophy [DS:H00679]
K14165	Progressive myoclonic epilepsy [DS:H00810]
K14165	Anaplastic large-cell lymphoma [DS:H01601]
K14165	Peripheral T cell lymphoma [DS:H01892]
K14165	Lafora disease [DS:H01994]
K14169	Microcephaly syndrome [DS:H02132]
K14209	Iminoglycinuria [DS:H00905]
K14209	Hyperglycinuria [DS:H01304]
K14210	Cystinuria [DS:H00901]
K14211	Congenital supravalvar aortic stenosis [DS:H00553]
K14211	Cutis laxa [DS:H00557]
K14211	Williams-Beuren syndrome [DS:H01439]
K14213	Prolidase deficiency [DS:H01119]
K14222	MELAS Syndrome [DS:H01347]
K14223	MELAS Syndrome [DS:H01347]
K14226	MELAS Syndrome [DS:H01347]
K14226	Myoclonic Epilepsy and Ragged-Red Fiber Disease [DS:H01356]
K14227	Myoclonic Epilepsy and Ragged-Red Fiber Disease [DS:H01356]
K14228	MELAS Syndrome [DS:H01347]
K14228	Myoclonic Epilepsy and Ragged-Red Fiber Disease [DS:H01356]
K14229	MELAS Syndrome [DS:H01347]
K14229	Myoclonic Epilepsy and Ragged-Red Fiber Disease [DS:H01356]
K14231	Myoclonic Epilepsy and Ragged-Red Fiber Disease [DS:H01356]
K14232	Myoclonic Epilepsy and Ragged-Red Fiber Disease [DS:H01356]
K14233	MELAS Syndrome [DS:H01347]
K14233	Myoclonic Epilepsy and Ragged-Red Fiber Disease [DS:H01356]
K14300	Nephrotic syndrome [DS:H01657]
K14300	Galloway-Mowat syndrome [DS:H01722]
K14301	Ovarian dysgenesis [DS:H00599]
K14301	Nephrotic syndrome [DS:H01657]
K14301	Galloway-Mowat syndrome [DS:H01722]
K14302	Primary microcephaly [DS:H00269]
K14303	Nephrotic syndrome [DS:H01657]
K14304	Nephrotic syndrome [DS:H01657]
K14306	Infantile bilateral striatal necrosis [DS:H01177]
K14309	Nephrotic syndrome [DS:H01657]
K14310	Nephrotic syndrome [DS:H01657]
K14312	Atrial fibrillation [DS:H00731]
K14318	Fetal akinesia deformation sequence [DS:H00987]
K14320	Achalasia Addisonianism Alacrima syndrome [DS:H00257]
K14328	Syndromic X-linked mental retardation [DS:H00658]
K14342	Primary bile acid malabsorption [DS:H01016]
K14345	Primary hypertrophic osteoarthropathy [DS:H00457]
K14345	Chronic nonspecific multiple ulcers of the small intestine [DS:H01853]
K14347	Syndromic disorder with short stature [DS:H02481]
K14365	Emery-Dreifuss muscular dystrophy [DS:H00563]
K14365	Scapuloperoneal myopathy [DS:H00656]
K14365	Reducing body myopathy [DS:H00657]
K14365	X-linked myopathy with postural muscle atrophy [DS:H00697]
K14378	Nasu-Hakola disease [DS:H00438]
K14379	Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [DS:H01576]
K14381	Amyotrophic lateral sclerosis (ALS) [DS:H00058]
K14381	Paget disease of bone [DS:H00437]
K14381	Frontotemporal dementia and amyotrophic lateral sclerosis [DS:H02342]
K14382	Familial renal glucosuria [DS:H01126]
K14385	Thyroid dyshormonogenesis [DS:H00251]
K14387	Congenital myasthenic syndrome [DS:H00770]
K14387	Distal hereditary motor neuropathies [DS:H00856]
K14396	Oculopharyngeal muscular dystrophy [DS:H00704]
K14399	Pontocerebellar hypoplasia [DS:H00897]
K14410	Acid phosphatase deficiency [DS:H01113]
K14425	Bartter syndrome [DS:H00239]
K14426	Gitelman syndrome [DS:H00240]
K14427	Agenesis of the corpus callosum with peripheral neuropathy [DS:H00816]
K14437	Hypogonadotropic hypogonadism [DS:H00255]
K14437	CHARGE syndrome [DS:H00556]
K14439	Adermatoglyphia [DS:H02295]
K14439	Basan syndrome [DS:H02296]
K14440	Schimke immunoosseous dysplasia [DS:H00580]
K14443	Oocyte maturation defect [DS:H01897]
K14445	Early infantile epileptic encephalopathy [DS:H00606]
K14455	Early infantile epileptic encephalopathy [DS:H00606]
K14462	Familial hypercholesterolemia [DS:H00155]
K14462	Familial hypobetalipoproteinemia [DS:H01270]
K14462	Atherosclerosis [DS:H02505]
K14463	Abetalipoproteinemia [DS:H00160]
K14480	Schizophrenia [DS:H01649]
K14536	Shwachman-Diamond syndrome [DS:H00439]
K14548	North American Indian childhood cirrhosis [DS:H02194]
K14554	Primary open angle glaucoma [DS:H00612]
K14562	Treacher Collins syndrome [DS:H00610]
K14564	Spinocerebellar ataxia (SCA) [DS:H00063]
K14568	Bowen-Conradi syndrome [DS:H00616]
K14569	Aplasia cutis congenita [DS:H01896]
K14573	Alopecia neurologic defects and endocrinopathy syndrome [DS:H00621]
K14574	Other phagocyte defects [DS:H00101]
K14574	Shwachman-Diamond syndrome [DS:H00439]
K14575	Symptomatic generalized epilepsies [DS:H00577]
K14576	Other well-defined immunodeficiency syndromes [DS:H00107]
K14576	Metaphyseal dysplasias [DS:H00479]
K14576	Metaphyseal dysplasia without hypotrichosis [DS:H00518]
K14576	Cartilage-hair hypoplasia [DS:H01966]
K14576	Anauxetic dysplasia [DS:H01967]
K14610	Thiamine-responsive megaloblastic anemia [DS:H01183]
K14610	Biotin-responsive basal ganglia disease [DS:H01231]
K14610	Wernicke encephalopathy [DS:H01565]
K14613	Hereditary folate malabsorption [DS:H01252]
K14615	Vitamin B12 deficiency anaemia [DS:H01277]
K14616	Vitamin B12 deficiency anaemia [DS:H01277]
K14617	Methylmalonic aciduria and homocystinuria [DS:H02221]
K14618	Methylmalonic aciduria and homocystinuria [DS:H02221]
K14619	Transcobalamin II deficiency [DS:H01190]
K14620	Infantile progressive bulbar palsy [DS:H00841]
K14620	Brown-Vialetto-Van Laere syndrome [DS:H01903]
K14636	Congenital myasthenic syndrome [DS:H00770]
K14640	Familial idiopathic basal ganglia calcification [DS:H01574]
K14676	Hereditary spastic paraplegia [DS:H00266]
K14676	PNPLA6-related disorders [DS:H01898]
K14676	Laurence-Moon syndrome [DS:H02137]
K14676	Boucher-Neuhauser syndrome [DS:H02140]
K14677	Aminoacylase 1 deficiency [DS:H01146]
K14683	Hypophosphatemic rickets [DS:H00214]
K14683	Nephrolithiasis/osteoporosis, hypophosphatemic [DS:H00888]
K14683	Fanconi renotubular syndrome [DS:H01198]
K14683	Pulmonary alveolar microlithiasis [DS:H01298]
K14683	Hereditary hypophophatemic rickets with hypercalciuria [DS:H02138]
K14684	Fontaine progeroid syndrome [DS:H02480]
K14685	Hemochromatosis [DS:H00211]
K14689	Transient neonatal zinc deficiency [DS:H01925]
K14695	Type 2 diabetes mellitus [DS:H00409]
K14697	Hypermanganesemia with dystonia [DS:H01938]
K14700	Calcium oxalate nephrolithiasis [DS:H02145]
K14701	Multiple epiphyseal dysplasia [DS:H00476]
K14701	Atelosteogenesis type II [DS:H00515]
K14701	Diastrophic dysplasia [DS:H02063]
K14701	Achondrogenesis type IB [DS:H02065]
K14702	Thyroid dyshormonogenesis [DS:H00251]
K14702	Deafness, autosomal recessive [DS:H00605]
K14703	Deafness, autosomal recessive [DS:H00605]
K14705	Spermatogenic failure [DS:H01282]
K14710	Acrodermatitis enteropathica [DS:H00212]
K14711	Myopia [DS:H02041]
K14714	Congenital disorders of glycosylation type II [DS:H00119]
K14719	Ehlers-Danlos syndrome, spondylodysplastic type [DS:H02239]
K14720	Hypermanganesemia with dystonia [DS:H01938]
K14725	Autism [DS:H02111]
K14736	Atransferrinemia [DS:H01145]
K14756	Familial tumoral calcinosis [DS:H01193]
K14780	46,XY gonadal dysgenesis [DS:H00607]
K14780	Neurodevelopmental disorder with structural brain abnormalities [DS:H02470]
K14800	Diamond-Blackfan anemia [DS:H00237]
K14802	Cerebellar ataxia, mental retardation (MR), and dysequilibrium syndrome (CAMRQ) [DS:H01204]
K14856	Allergic rhinitis [DS:H01360]
K14864	X-linked mental retardation [DS:H00480]
K14944	Neurodevelopmental disorder with structural brain abnormalities [DS:H02470]
K14947	Deafness, autosomal recessive [DS:H00605]
K14959	Primary dystonia [DS:H00831]
K14959	Follicular lymphoma [DS:H01613]
K14966	X-linked mental retardation [DS:H00480]
K14966	Methylmalonic acidemia and hyperhomocysteinemia, cblX type [DS:H02222]
K14970	Adrenal carcinoma [DS:H00033]
K14970	Carcinoid [DS:H00034]
K14970	Pancreatic neuroendocrine tumor [DS:H00045]
K14970	Primary hyperparathyroidism [DS:H00246]
K14970	Multiple endocrine neoplasia syndrome [DS:H00247]
K14970	Pituitary adenomas [DS:H01102]
K14970	Cushing syndrome [DS:H01431]
K14970	Zollinger-Ellison syndrome [DS:H01522]
K14970	Medulloblastoma [DS:H01667]
K14970	Bilateral macronodular adrenal hyperplasia [DS:H02049]
K14994	Foveal hypoplasia [DS:H01256]
K14998	Charcot-Marie-Tooth disease [DS:H00264]
K14998	Leigh syndrome [DS:H01354]
K15009	Phelan-McDermid syndrome [DS:H01238]
K15009	Autism [DS:H02111]
K15010	Deafness, autosomal dominant [DS:H00604]
K15014	H syndrome [DS:H00815]
K15048	Coronary artery disease [DS:H01742]
K15100	Congenital myasthenic syndrome [DS:H00770]
K15100	Combined D-2- and L-2-hydroxyglutaric aciduria [DS:H02304]
K15101	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome [DS:H01268]
K15101	Primary hyperammonemic disorders (Urea cycle disorders) [DS:H01398]
K15102	Mitochondrial phosphate carrier deficiency [DS:H01348]
K15103	Genetic obesity [DS:H02106]
K15105	Citrullinemia [DS:H00185]
K15105	Global cerebral hypomyelination [DS:H01305]
K15105	Primary hyperammonemic disorders (Urea cycle disorders) [DS:H01398]
K15107	Early infantile epileptic encephalopathy [DS:H00606]
K15107	Early myoclonic encephalopathy [DS:H01819]
K15108	Microcephaly, Amish type [DS:H00990]
K15109	Disorders of mitochondrial fatty-acid oxidation [DS:H00525]
K15109	Secondary hyperammonemia [DS:H01400]
K15109	Carnitine-acylcarnitine translocase deficiency [DS:H01983]
K15110	Mitochondrial DNA depletion syndrome [DS:H00469]
K15111	Combined oxidative phosphorylation deficiency [DS:H00891]
K15118	Sideroblastic anemia [DS:H00982]
K15133	Microcephaly syndrome [DS:H02132]
K15162	Lujan-Fryns syndrome [DS:H00889]
K15162	FG syndrome [DS:H00894]
K15162	Uterine leiomyoma [DS:H01640]
K15162	Blepharophimosis-mental retardation syndrome [DS:H01795]
K15164	Complete transposition of the great arteries [DS:H00550]
K15164	Autosomal dominant mental retardation [DS:H00773]
K15166	Autosomal recessive mental retardation [DS:H00768]
K15168	Basel-Vanagait-Smirin-Yosef syndrome [DS:H02483]
K15175	Primary hyperparathyroidism [DS:H00246]
K15175	Parathyroid carcinoma [DS:H01558]
K15184	B-cell acute lymphoblastic leukemia [DS:H00001]
K15185	CHOPS syndrome [DS:H01569]
K15191	Alazami syndrome [DS:H02233]
K15194	Syndromic X-linked mental retardation [DS:H00658]
K15196	Cerebellofaciodental syndrome [DS:H02271]
K15198	Deafness, autosomal recessive [DS:H00605]
K15225	Benign hereditary chorea [DS:H00860]
K15264	Williams-Beuren syndrome [DS:H01439]
K15271	Premature ovarian failure [DS:H00627]
K15272	Congenital disorders of glycosylation type II [DS:H00119]
K15272	Early infantile epileptic encephalopathy [DS:H00606]
K15272	Arthrogryposis, mental retardation, and seizures [DS:H01392]
K15279	Leukocyte adhesion deficiency [DS:H00099]
K15279	Congenital disorders of glycosylation type II [DS:H00119]
K15281	Schneckenbecken dysplasia [DS:H00474]
K15290	Syndromic neurodevelopmental disorder [DS:H02459]
K15291	Cone-rod dystrophy and cone dystrophy [DS:H00481]
K15292	Early infantile epileptic encephalopathy [DS:H00606]
K15294	Early infantile epileptic encephalopathy [DS:H00606]
K15294	4p deletion syndrome [DS:H01773]
K15297	Cone-rod synaptic disorder [DS:H02469]
K15309	Salivary gland cancer [DS:H01508]
K15322	Pontocerebellar hypoplasia [DS:H00897]
K15323	Pontocerebellar hypoplasia [DS:H00897]
K15324	Pontocerebellar hypoplasia [DS:H00897]
K15326	Pontocerebellar hypoplasia [DS:H00897]
K15335	Autosomal recessive mental retardation [DS:H00768]
K15362	Fanconi anemia [DS:H00238]
K15363	Chromosome 15q13.3 microdeletion syndrome [DS:H01877]
K15369	Early infantile epileptic encephalopathy [DS:H00606]
K15376	Molybdenum cofactor deficiency [DS:H02311]
K15377	Deafness, autosomal dominant [DS:H00604]
K15378	Oculocutaneous albinism [DS:H00168]
K15378	Syndromic intellectual developmental disorder [DS:H02463]
K15412	Alternative complement pathway component defects [DS:H00104]
K15414	Combined oxidative phosphorylation deficiency [DS:H00891]
K15429	Combined oxidative phosphorylation deficiency [DS:H00891]
K15436	Limb-girdle muscular dystrophy [DS:H00593]
K15437	Hypomyelinating leukodystrophy [DS:H00679]
K15438	Hypomyelinating leukodystrophy [DS:H00679]
K15442	Autosomal recessive mental retardation [DS:H00768]
K15443	Galloway-Mowat syndrome [DS:H01722]
K15443	Microcephaly syndrome [DS:H02132]
K15445	Microcephaly, short stature, and impaired glucose metabolism [DS:H01923]
K15516	Fragile X syndrome [DS:H00465]
K15516	Premature ovarian failure [DS:H00627]
K15516	Fragile X tremor/ataxia syndrome [DS:H01731]
K15588	Sotos syndrome [DS:H00718]
K15589	Webb-Dattani syndrome [DS:H01797]
K15592	Prostate cancer [DS:H00024]
K15592	Ewing sarcoma [DS:H00035]
K15593	Prostate cancer [DS:H00024]
K15603	Pitt-Hopkins syndrome [DS:H00756]
K15603	Fuchs corneal dystrophy [DS:H00960]
K15603	Craniosynostoses [DS:H02160]
K15604	T-cell acute lymphoblastic leukemia [DS:H00002]
K15607	T-cell acute lymphoblastic leukemia [DS:H00002]
K15608	Focal segmental glomerulosclerosis [DS:H00626]
K15608	Renal coloboma syndrome [DS:H01026]
K15612	T-cell acute lymphoblastic leukemia [DS:H00002]
K15614	Branchio-oto-renal syndrome [DS:H00453]
K15614	Deafness, autosomal dominant [DS:H00604]
K15616	Branchio-oto-renal syndrome [DS:H00453]
K15616	OFC syndrome [DS:H02046]
K15618	Hairy cell leukemia [DS:H00006]
K15618	Diffuse large B-cell lymphoma, not otherwise specified [DS:H02434]
K15624	Synovial sarcoma [DS:H00050]
K15625	Synovial sarcoma [DS:H00050]
K15631	Xanthinuria [DS:H00192]
K15680	Cortisone reductase deficiency [DS:H01111]
K15687	Central precocious puberty [DS:H02018]
K15691	Fanconi anemia [DS:H00238]
K15692	Early infantile epileptic encephalopathy [DS:H00606]
K15707	Autosomal dominant sensory ataxia [DS:H02101]
K15728	Chronic recurrent multifocal osteomyelitis [DS:H01117]
K15728	Acute recurrent myoglobinuria [DS:H01290]
K15732	Congenital cataracts, facial dysmorphism, and neuropathy [DS:H01220]
K15759	Chondrodysplasia with joint dislocations, GPAPP type [DS:H02306]
K15791	Charcot-Marie-Tooth disease [DS:H00264]
K15837	Deafness, autosomal recessive [DS:H00605]
K15840	Spinocerebellar ataxia (SCA) [DS:H00063]
K15865	Type 2 diabetes mellitus [DS:H00409]
K15901	Galloway-Mowat syndrome [DS:H01722]
K15902	Galloway-Mowat syndrome [DS:H01722]
K15909	Opsismodysplasia [DS:H01828]
K15980	Mitochondrial complex I deficiency [DS:H00473]
K15980	Disorders of mitochondrial fatty-acid oxidation [DS:H00525]
K15980	Acyl-CoA dehydrogenase 9 deficiency [DS:H02085]
K16056	Combined immunodeficiency [DS:H00093]
K16056	Tubular aggregate myopathy [DS:H02258]
K16059	Combined immunodeficiency [DS:H00093]
K16059	Tubular aggregate myopathy [DS:H02258]
K16059	Stormorken syndrome [DS:H02259]
K16068	Early infantile epileptic encephalopathy [DS:H00606]
K16143	Systemic lupus erythematosus [DS:H00080]
K16194	Developmental delay, leukoencephalopathy, and neurologic decompensation [DS:H02457]
K16195	Developmental delay, leukoencephalopathy, and neurologic decompensation [DS:H02457]
K16196	Pulmonary arterial hypertension [DS:H01621]
K16196	Pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis [DS:H01866]
K16198	Early infantile epileptic encephalopathy [DS:H00606]
K16220	Neutropenic disorders [DS:H00100]
K16271	X-linked mental retardation [DS:H00480]
K16272	Macrocephaly macrosomia facial dysmorphism syndrome [DS:H01308]
K16288	Hereditary spastic paraplegia [DS:H00266]
K16288	Congenital anomalies of kidney and urinary tract [DS:H01867]
K16302	Symptomatic generalized epilepsies [DS:H00577]
K16302	Jalili syndrome [DS:H01015]
K16302	Hypomagnesemia [DS:H01210]
K16308	Primary microcephaly [DS:H00269]
K16309	Thrombocytopenia (THC) [DS:H00978]
K16337	Genetic obesity [DS:H02106]
K16342	Gastrointestinal ulceration, recurrent, with dysfunctional platelets [DS:H02504]
K16343	Parkinson disease [DS:H00057]
K16343	Neurodegeneration with brain iron accumulation [DS:H00833]
K16359	Syndromic neurodevelopmental disorder [DS:H02459]
K16362	Hypogonadotropic hypogonadism [DS:H00255]
K16364	Lethal congenital contractural syndrome [DS:H00865]
K16366	Auriculocondylar syndrome [DS:H01884]
K16455	Joubert syndrome [DS:H00530]
K16456	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly [DS:H01937]
K16458	Joubert syndrome [DS:H00530]
K16459	Joubert syndrome [DS:H00530]
K16459	Short-rib thoracic dysplasia [DS:H02157]
K16461	Primary microcephaly [DS:H00269]
K16462	Nephronophthisis [DS:H00537]
K16464	Cone-rod dystrophy and hearing loss [DS:H02135]
K16470	Polycystic kidney disease [DS:H00542]
K16470	Mitral valve prolapse [DS:H01868]
K16472	Hydrolethalus syndrome [DS:H01265]
K16476	Seckel syndrome [DS:H00992]
K16478	Nephronophthisis [DS:H00537]
K16478	Senior-Loken syndrome [DS:H00538]
K16480	Oral-facial-digital syndrome [DS:H00454]
K16480	Retinitis pigmentosa [DS:H00527]
K16480	Joubert syndrome [DS:H00530]
K16480	Simpson-Golabi-Behmel syndrome [DS:H01215]
K16481	Microcephalic osteodysplastic primordial dwarfism, type II (MOPD II) [DS:H00991]
K16482	Cone-rod dystrophy and cone dystrophy [DS:H00481]
K16482	Syndromic disorder with short stature [DS:H02481]
K16484	Microcephaly syndrome [DS:H02132]
K16487	Primary microcephaly [DS:H00269]
K16488	Bardet-Biedl syndrome [DS:H00418]
K16488	Nephronophthisis [DS:H00537]
K16488	Senior-Loken syndrome [DS:H00538]
K16499	Early infantile epileptic encephalopathy [DS:H00606]
K16499	PCDH19-related epilepsy syndrome [DS:H01775]
K16499	Diencephalic-mesencephalic junction dysplasia syndrome [DS:H02487]
K16500	Deafness, autosomal recessive [DS:H00605]
K16500	Usher syndrome (US) [DS:H00779]
K16501	Cone-rod dystrophy and cone dystrophy [DS:H00481]
K16506	Spinocerebellar ataxia (SCA) [DS:H00063]
K16507	Van Maldergem syndrome [DS:H01393]
K16507	Mitral valve prolapse [DS:H01868]
K16512	Cone-rod dystrophy and cone dystrophy [DS:H00481]
K16512	Leber congenital amaurosis [DS:H00837]
K16531	Bardet-Biedl syndrome [DS:H00418]
K16533	Meckel syndrome [DS:H00261]
K16533	Bardet-Biedl syndrome [DS:H00418]
K16533	Joubert syndrome [DS:H00530]
K16533	Nephronophthisis [DS:H00537]
K16533	Senior-Loken syndrome [DS:H00538]
K16533	Leber congenital amaurosis [DS:H00837]
K16533	Arima syndrome [DS:H01811]
K16534	Schizophrenia [DS:H01649]
K16538	Joubert syndrome [DS:H00530]
K16539	Retinitis pigmentosa [DS:H00527]
K16542	Primary microcephaly [DS:H00269]
K16545	Hereditary spastic paraplegia [DS:H00266]
K16550	Meckel syndrome [DS:H00261]
K16550	Joubert syndrome [DS:H00530]
K16550	COACH syndrome [DS:H01001]
K16551	Long QT syndrome [DS:H00720]
K16571	Autosomal recessive microcephaly and chorioretinopathy [DS:H01880]
K16573	Autosomal recessive microcephaly and chorioretinopathy [DS:H01880]
K16579	Lissencephaly [DS:H00268]
K16602	Cone-rod dystrophy and cone dystrophy [DS:H00481]
K16617	Congenital myasthenic syndrome [DS:H00770]
K16628	Epidermolysis bullosa, dysprophica [DS:H00587]
K16628	Transient bullous dermolysis of the newborn [DS:H00763]
K16628	Nonsyndromic congenital nail disorder [DS:H01307]
K16631	Amyotrophic lateral sclerosis (ALS) [DS:H00058]
K16659	Schizophrenia [DS:H01649]
K16669	Van Maldergem syndrome [DS:H01393]
K16669	Hennekam lymphangiectasia-lymphedema syndrome [DS:H02169]
K16670	Cleft palate, cardiac defects, and mental retardation [DS:H02394]
K16675	Syndromic X-linked mental retardation [DS:H00658]
K16681	Retinitis pigmentosa [DS:H00527]
K16681	Focal segmental glomerulosclerosis [DS:H00626]
K16681	Leber congenital amaurosis [DS:H00837]
K16681	Pigmented paravenous chorioretinal atrophy [DS:H01088]
K16684	Malignant pleural mesothelioma [DS:H00015]
K16684	Neurofibromatosis type 2 [DS:H01438]
K16684	Meningioma [DS:H01556]
K16684	Medulloblastoma [DS:H01667]
K16687	Ocular coloboma [DS:H01114]
K16724	Primary microcephaly [DS:H00269]
K16728	Primary microcephaly [DS:H00269]
K16728	Seckel syndrome [DS:H00992]
K16738	Lissencephaly [DS:H00268]
K16738	Microhydranencephaly [DS:H01870]
K16740	Joubert syndrome [DS:H00530]
K16741	Alstrom syndrome [DS:H00417]
K16742	Retinitis pigmentosa [DS:H00527]
K16743	Primary microcephaly [DS:H00269]
K16744	Meckel syndrome [DS:H00261]
K16744	Joubert syndrome [DS:H00530]
K16745	Meckel syndrome [DS:H00261]
K16745	Joubert syndrome [DS:H00530]
K16746	Bardet-Biedl syndrome [DS:H00418]
K16747	Bardet-Biedl syndrome [DS:H00418]
K16747	Retinitis pigmentosa [DS:H00527]
K16748	Bardet-Biedl syndrome [DS:H00418]
K16749	Bardet-Biedl syndrome [DS:H00418]
K16751	Oral-facial-digital syndrome [DS:H00454]
K16754	Nephronophthisis [DS:H00537]
K16762	Mosaic variegated aneuploidy syndrome [DS:H01288]
K16763	Seckel syndrome [DS:H00992]
K16765	Cone-rod dystrophy and hearing loss [DS:H02135]
K16769	Filippi syndrome [DS:H01857]
K16771	Joubert syndrome [DS:H00530]
K16772	Retinitis pigmentosa [DS:H00527]
K16774	Nephronophthisis [DS:H00537]
K16774	Senior-Loken syndrome [DS:H00538]
K16781	Bardet-Biedl syndrome [DS:H00418]
K16791	Pulmonary arterial hypertension [DS:H01621]
K16794	Lissencephaly [DS:H00268]
K16796	Septo-optic dysplasia [DS:H00544]
K16796	Microphthalmia, syndromic [DS:H02170]
K16797	Postaxial polydactyly [DS:H01852]
K16797	Preaxial polydactyly [DS:H02332]
K16798	Holoprosencephaly [DS:H00267]
K16801	Morbid obesity and spermatogenic failure [DS:H02235]
K16813	Autosomal recessive congenital ichthyosis [DS:H00734]
K16815	Mitochondrial myopathy with lactic acidosis [DS:H02201]
K16816	Neutral lipid storage disease with myopathy [DS:H01297]
K16824	Immune thrombocytopenia [DS:H01240]
K16834	Sclerosteosis [DS:H00486]
K16834	Hyperostosis corticalis generalisata [DS:H01774]
K16835	Hyperalphalipoproteinemia [DS:H01199]
K16860	Spinocerebellar ataxia (SCA) [DS:H00063]
K16866	Sorsby fundus dystrophy [DS:H00732]
K16882	Pontocerebellar hypoplasia [DS:H00897]
K16889	Spermatogenic failure [DS:H01282]
K16890	Deafness-infertility syndrome [DS:H02435]
K16910	Deafness, autosomal dominant [DS:H00604]
K16910	Deafness, autosomal recessive [DS:H00605]
K16912	Wilson-Turner syndrome [DS:H02267]
K16931	Congenital adrenal hyperplasia [DS:H00216]
K16938	Hereditary neuralgic amyotrophy [DS:H01131]
K16938	Spermatogenic failure [DS:H01282]
K17065	Optic atrophy [DS:H01020]
K17065	Encephalopathy due to defective mitochondrial and peroxisomal fission [DS:H01900]
K17079	Mitochondrial DNA depletion syndrome [DS:H00469]
K17079	Optic atrophy [DS:H01020]
K17082	Kindler syndrome [DS:H00588]
K17084	Leukocyte adhesion deficiency [DS:H00099]
K17095	Amyotrophic lateral sclerosis (ALS) [DS:H00058]
K17108	Hereditary spastic paraplegia [DS:H00266]
K17114	Deafness, autosomal dominant [DS:H00604]
K17145	Spondyloepiphyseal dysplasia [DS:H02462]
K17166	Retinal dystrophy and iris coloboma with congenital cataract [DS:H02290]
K17177	EDICT syndrome [DS:H02426]
K17231	Thyroid dyshormonogenesis [DS:H00251]
K17232	Thyroid dyshormonogenesis [DS:H00251]
K17255	X-linked mental retardation [DS:H00480]
K17256	Acid-labile subunit deficiency [DS:H01907]
K17259	Epidermodysplasia verruciformis [DS:H00842]
K17270	Narcolepsy [DS:H01293]
K17271	Hereditary spastic paraplegia [DS:H00266]
K17271	Hypomyelinating leukodystrophy [DS:H00679]
K17275	Deafness, autosomal dominant [DS:H00604]
K17277	Deafness, autosomal recessive [DS:H00605]
K17277	Hypotrichosis [DS:H00786]
K17277	Marie-Unna hereditary hypotrichosis [DS:H00858]
K17279	Retinitis pigmentosa [DS:H00527]
K17285	Extraoral halitosis due to MTO deficiency [DS:H02485]
K17288	Gelatinous drop-like corneal dystrophy [DS:H00953]
K17291	Deafness, autosomal recessive [DS:H00605]
K17302	Primary microcephaly [DS:H00269]
K17307	Synpolydactyly [DS:H00459]
K17309	Congenital diarrhea [DS:H01174]
K17336	Osteoporosis [DS:H01593]
K17338	Hereditary spastic paraplegia [DS:H00266]
K17338	Distal hereditary motor neuropathies [DS:H00856]
K17339	Hereditary sensory and autonomic neuropathy [DS:H00265]
K17339	Hereditary spastic paraplegia [DS:H00266]
K17340	Cutis laxa [DS:H00557]
K17340	Age-related macular degeneration [DS:H00821]
K17341	Age-related macular degeneration [DS:H00821]
K17343	Retinitis pigmentosa [DS:H00527]
K17343	Vitelliform macular dystrophy [DS:H00814]
K17343	Leber congenital amaurosis [DS:H00837]
K17343	Central areolar choroidal dystrophy [DS:H01768]
K17343	Pattern dystrophies of the retinal pigment epithelium [DS:H01890]
K17344	Retinitis pigmentosa [DS:H00527]
K17355	Familial exudative vitreoretinopathy [DS:H00589]
K17356	Osteosarcoma [DS:H00036]
K17385	Hypogonadotropic hypogonadism [DS:H00255]
K17386	Malignant pleural mesothelioma [DS:H00015]
K17386	Glioma [DS:H00042]
K17386	Familial idiopathic basal ganglia calcification [DS:H01574]
K17392	Type 2 diabetes mellitus [DS:H00409]
K17398	Myelodysplastic syndrome [DS:H01481]
K17398	Peripheral T cell lymphoma [DS:H01892]
K17398	Tatton-Brown-Rahman syndrome [DS:H02294]
K17398	Myelodysplastic/myeloproliferative neoplasms [DS:H02410]
K17398	Chronic myelomonocytic leukemia [DS:H02411]
K17399	Other humoral immunodeficiencies [DS:H00087]
K17399	Immunodeficiency-centromeric instability-facial anomalies syndrome [DS:H02308]
K17401	Ovarian dysgenesis [DS:H00599]
K17401	Combined oxidative phosphorylation deficiency [DS:H00891]
K17402	Combined oxidative phosphorylation deficiency [DS:H00891]
K17404	Combined oxidative phosphorylation deficiency [DS:H00891]
K17407	Combined oxidative phosphorylation deficiency [DS:H00891]
K17412	Combined oxidative phosphorylation deficiency [DS:H00891]
K17425	Combined oxidative phosphorylation deficiency [DS:H00891]
K17442	Tetralogy of Fallot [DS:H00549]
K17442	46,XY gonadal dysgenesis [DS:H00607]
K17442	Congenital diaphragmatic hernia [DS:H01241]
K17446	Congenital nongoitrous hypothyroidism (CHNG) [DS:H00250]
K17455	Retinitis pigmentosa [DS:H00527]
K17479	Deafness, autosomal recessive [DS:H00605]
K17496	3-Methylglutaconic aciduria [DS:H00754]
K17497	Congenital disorders of glycosylation type I [DS:H00118]
K17505	Maple syrup urine disease [DS:H00172]
K17523	Schizophrenia [DS:H01649]
K17535	Cardiac conduction disease with dilated cardiomyopathy [DS:H02125]
K17536	Syndromic X-linked mental retardation [DS:H00658]
K17540	Spermatogenic failure [DS:H01282]
K17541	Arthrogryposis multiplex congenita [DS:H02299]
K17544	Infantile hypotonia with psychomotor retardation and characteristic facies [DS:H01922]
K17547	Muscular dystrophy-dystroglycanopathy type A [DS:H00120]
K17547	Muscular dystrophy-dystroglycanopathy type C [DS:H01959]
K17547	Muscular dystrophy-dystroglycanopathy [DS:H02307]
K17558	Microcephaly, short stature, and impaired glucose metabolism [DS:H01923]
K17561	3M syndrome [DS:H00509]
K17570	Primary ciliary dyskinesia [DS:H00564]
K17592	Autosomal recessive spastic ataxia of Charlevoix-Saguenay [DS:H01170]
K17592	Spastic ataxia [DS:H01351]
K17594	Early infantile epileptic encephalopathy [DS:H00606]
K17599	Deafness, autosomal recessive [DS:H00605]
K17601	Cerebellar ataxia, mental retardation (MR), and dysequilibrium syndrome (CAMRQ) [DS:H01204]
K17601	Congenital hydrocephalus [DS:H01677]
K17606	Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia [DS:H01035]
K17610	Spastic ataxia [DS:H01351]
K17622	Dilated cardiomyopathy [DS:H00294]
K17622	Deafness, autosomal dominant [DS:H00604]
K17631	Autosomal dominant mental retardation [DS:H00773]
K17654	Combined oxidative phosphorylation deficiency [DS:H00891]
K17680	Mitochondrial DNA depletion syndrome [DS:H00469]
K17680	Progressive external ophthalmoplegia [DS:H01118]
K17680	Perrault syndrome [DS:H02095]
K17681	Harel-Yoon syndrome [DS:H02448]
K17682	Mitochondrial complex III deficiency [DS:H02086]
K17683	Coumarin resistance [DS:H01205]
K17686	Menkes syndrome [DS:H00209]
K17686	Wilson disease [DS:H00210]
K17686	Spinal muscular atrophy [DS:H00455]
K17686	Distal hereditary motor neuropathies [DS:H00856]
K17686	Occipital horn syndrome [DS:H01859]
K17698	Thrombocytopenia (THC) [DS:H00978]
K17703	Cataract [DS:H01202]
K17705	Cerebral cavernous malformation [DS:H00534]
K17712	Poor drug metabolism [DS:H01171]
K17719	Coumarin resistance [DS:H01205]
K17721	Poor drug metabolism [DS:H01171]
K17725	Ethylmalonic encephalopathy [DS:H01249]
K17731	Autosomal recessive congenital ichthyosis [DS:H00734]
K17732	Multiple mitochondrial dysfunctions syndrome [DS:H01894]
K17751	Hypertrophic cardiomyopathy [DS:H00292]
K17751	Dilated cardiomyopathy [DS:H00294]
K17751	Atrial septal defect [DS:H00546]
K17751	Distal myopathy [DS:H00594]
K17751	Scapuloperoneal myopathy [DS:H00656]
K17751	Myosin storage myopathy [DS:H00703]
K17751	Left ventricular noncompaction [DS:H01216]
K17751	Laing distal myopathy [DS:H01977]
K17757	PEBEL [DS:H02262]
K17759	PEBEL [DS:H02262]
K17767	Leber congenital amaurosis [DS:H00837]
K17767	Pituitary adenomas [DS:H01102]
K17767	Cushing syndrome [DS:H01431]
K17767	Acromegaly [DS:H01483]
K17767	Excessive secretion of growth hormone [DS:H01864]
K17780	Mohr-Tranebjaerg syndrome [DS:H00989]
K17780	Jensen syndrome [DS:H01201]
K17790	Combined oxidative phosphorylation deficiency [DS:H00891]
K17800	4p deletion syndrome [DS:H01773]
K17805	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type [DS:H01830]
K17846	Meningioma [DS:H01556]
K17890	Crohn disease [DS:H00286]
K17890	Inflammatory bowel disease (IBD) [DS:H01227]
K17894	Myelodysplastic syndrome [DS:H01481]
K17895	Hypoparathyroidism with sensorineural deafness and renal dysplasia [DS:H01271]
K17895	Allergic rhinitis [DS:H01360]
K17896	Congenital heart defects, multiple type [DS:H02199]
K17897	Atrial septal defect [DS:H00546]
K17897	Atrioventricular septal defect [DS:H00547]
K17897	Tetralogy of Fallot [DS:H00549]
K17897	Persistent truncus arteriosus [DS:H01736]
K17897	Pancreatic agenesis and congenital heart disease [DS:H02198]
K17901	Down syndrome [DS:H01552]
K17908	Syndromic intellectual developmental disorder [DS:H02463]
K17915	Meckel syndrome [DS:H00261]
K17915	Primary microcephaly [DS:H00269]
K17915	Retinoblastoma [DS:H01513]
K17924	Osteopetrosis [DS:H00436]
K17926	Autosomal recessive spinocerebellar ataxias [DS:H01891]
K17943	Spinocerebellar ataxia (SCA) [DS:H00063]
K17962	Genetic obesity [DS:H02106]
K17964	Leigh syndrome [DS:H01354]
K17964	Cytochrome c oxidase (COX) deficiency [DS:H01368]
K17965	Congenital anomalies of kidney and urinary tract [DS:H01867]
K17966	ATP synthase deficiency [DS:H01369]
K17966	Secondary hyperammonemia [DS:H01400]
K17973	Type 1 diabetes mellitus [DS:H00408]
K18024	Type 1 diabetes mellitus [DS:H00408]
K18024	Systemic sclerosis [DS:H01492]
K18024	Giant cell arteritis [DS:H01698]
K18025	Choanal atresia and lymphedema [DS:H01017]
K18026	Type 1 diabetes mellitus [DS:H00408]
K18035	Nephrotic syndrome [DS:H01657]
K18040	Neurodevelopmental disorder with structural brain abnormalities [DS:H02470]
K18052	Type 1 diabetes mellitus [DS:H00408]
K18060	Spastic ataxia [DS:H01351]
K18061	Charcot-Marie-Tooth disease [DS:H00264]
K18081	Charcot-Marie-Tooth disease [DS:H00264]
K18123	Primary hyperoxaluria [DS:H00117]
K18134	Adams-Oliver syndrome [DS:H01413]
K18157	Optic atrophy [DS:H01020]
K18159	Mitochondrial complex I deficiency [DS:H00473]
K18160	Mitochondrial complex I deficiency [DS:H00473]
K18160	Leigh syndrome [DS:H01354]
K18161	Mitochondrial complex I deficiency [DS:H00473]
K18162	Mitochondrial complex I deficiency [DS:H00473]
K18163	Mitochondrial complex I deficiency [DS:H00473]
K18163	Leigh syndrome [DS:H01354]
K18165	Mitochondrial complex I deficiency [DS:H00473]
K18166	Mitochondrial complex I deficiency [DS:H00473]
K18166	Leigh syndrome [DS:H01354]
K18167	Mitochondrial complex II deficiency [DS:H02005]
K18169	Mitochondrial complex III deficiency [DS:H02086]
K18170	Mitochondrial complex III deficiency [DS:H02086]
K18178	Fatal infantile cardioencephalomyopathy [DS:H01200]
K18178	Cytochrome c oxidase (COX) deficiency [DS:H01368]
K18179	Fatal infantile cardioencephalomyopathy [DS:H01200]
K18180	Autosomal recessive spinocerebellar ataxias [DS:H01891]
K18181	Cytochrome c oxidase (COX) deficiency [DS:H01368]
K18184	Cytochrome c oxidase (COX) deficiency [DS:H01368]
K18186	Cytochrome c oxidase (COX) deficiency [DS:H01368]
K18189	Leigh syndrome [DS:H01354]
K18190	Combined oxidative phosphorylation deficiency [DS:H00891]
K18190	Cytochrome c oxidase (COX) deficiency [DS:H01368]
K18194	ATP synthase deficiency [DS:H01369]
K18204	D-2-hydroxyglutaric aciduria [DS:H01225]
K18207	Muscular dystrophy-dystroglycanopathy type A [DS:H00120]
K18207	Limb-girdle muscular dystrophy [DS:H00593]
K18207	Muscular dystrophy-dystroglycanopathy [DS:H02307]
K18211	Congenital myasthenic syndrome [DS:H00770]
K18222	X-linked chondrodysplasia punctata [DS:H01194]
K18245	Combined proximal and distal renal tubular acidosis [DS:H00241]
K18245	Osteopetrosis [DS:H00436]
K18245	Renal tubular acidosis [DS:H02310]
K18246	Retinitis pigmentosa [DS:H00527]
K18258	Deafness, autosomal dominant [DS:H00604]
K18259	Vitamin B12 deficiency anaemia [DS:H01277]
K18260	Autosomal recessive mental retardation [DS:H00768]
K18261	Distal myopathy with anterior tibial onset [DS:H00566]
K18261	Limb-girdle muscular dystrophy [DS:H00593]
K18261	Distal myopathy [DS:H00594]
K18261	Miyoshi myopathy [DS:H01965]
K18261	Limb-girdle muscular dystrophy 2B [DS:H01974]
K18262	Familial flecked retina syndrome [DS:H00825]
K18262	Doyne honeycomb retinal dystrophy [DS:H02110]
K18263	Usher syndrome (US) [DS:H00779]
K18263	Febrile seizures [DS:H00783]
K18264	Familial dementia [DS:H01184]
K18264	Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities [DS:H02288]
K18266	Charcot-Marie-Tooth disease [DS:H00264]
K18267	Nemaline myopathy [DS:H00698]
K18268	Nephrotic syndrome [DS:H01657]
K18269	Cerebral cavernous malformation [DS:H00534]
K18270	Warburg micro syndrome [DS:H00792]
K18271	Microphthalmia [DS:H01027]
K18271	Retinal dystrophy, iris coloboma, and comedogenic acne syndrome [DS:H02291]
K18272	Retinitis pigmentosa [DS:H00527]
K18273	Deafness, autosomal dominant [DS:H00604]
K18273	Deafness, autosomal recessive [DS:H00605]
K18273	Bilateral sudden sensorineural hearing loss [DS:H01705]
K18274	Autosomal dominant tubulointerstitial kidney disease [DS:H00541]
K18274	Familial juvenile hyperuricemic nephropathy [DS:H02011]
K18274	Medullary cystic kidney disease [DS:H02012]
K18342	Syndromic intellectual developmental disorder [DS:H02463]
K18343	Autoinflammation, panniculitis, and dermatosis syndrome [DS:H02414]
K18400	Koolen-De Vries syndrome [DS:H02121]
K18403	Syndromic X-linked mental retardation [DS:H00658]
K18405	Cataract [DS:H01202]
K18408	Spermatogenic failure [DS:H01282]
K18412	Familial adult myoclonic epilepsy [DS:H02213]
K18435	Campomelic dysplasia [DS:H00442]
K18435	46,XY gonadal dysgenesis [DS:H00607]
K18437	Pigmented micronodular adrenocortical disease [DS:H00260]
K18437	Cushing syndrome [DS:H01431]
K18437	Autosomal dominant striatal degeneration [DS:H01570]
K18438	Autosomal dominant striatal degeneration [DS:H01570]
K18438	Infantile-onset limb and orofacial dyskinesia [DS:H02388]
K18442	Periventricular nodular heterotopia [DS:H00270]
K18450	Cerebellar ataxia cayman type [DS:H01038]
K18464	Hereditary spastic paraplegia [DS:H00266]
K18464	3C syndrome [DS:H01568]
K18465	Autosomal recessive mental retardation [DS:H00768]
K18468	Parkinson disease [DS:H00057]
K18485	Centronuclear myopathy [DS:H00700]
K18487	Heterotaxy [DS:H00632]
K18487	VACTERL/VATER association [DS:H01195]
K18487	Congenital heart defects, multiple type [DS:H02199]
K18489	Split-hand/foot malformation [DS:H00471]
K18490	Growth hormone deficiency [DS:H00254]
K18490	Septo-optic dysplasia [DS:H00544]
K18490	Medulloblastoma [DS:H01667]
K18490	Combined pituitary hormone deficiency [DS:H02036]
K18490	Microphthalmia, syndromic [DS:H02170]
K18586	Coenzyme Q10 deficiency [DS:H00999]
K18587	Coenzyme Q10 deficiency [DS:H00999]
K18621	Focal segmental glomerulosclerosis [DS:H00626]
K18622	Spastic quadriplegic cerebral palsy [DS:H01097]
K18625	Stocco dos Santos X-linked mental retardation syndrome [DS:H01916]
K18626	Uncombable hair syndrome [DS:H01796]
K18643	Lissencephaly [DS:H00268]
K18660	Combined malonic and methylmalonic aciduria [DS:H02109]
K18666	Barrett esophagus [DS:H01901]
K18666	Spinal muscular atrophy with congenital bone fractures [DS:H02238]
K18684	Autosomal recessive congenital ichthyosis [DS:H00734]
K18703	Glutaric acidemia [DS:H00178]
K18723	Amyotrophic lateral sclerosis (ALS) [DS:H00058]
K18723	Lethal congenital contractural syndrome [DS:H00865]
K18723	Congenital arthrogryposis with anterior horn cell disease [DS:H01030]
K18730	Parkinson disease [DS:H00057]
K18735	Heart and brain malformation syndrome [DS:H02364]
K18739	Spinal muscular atrophy [DS:H00455]
K18741	Spermatogenic failure [DS:H01282]
K18758	Perlman syndrome [DS:H01412]
K18806	Acrocallosal syndrome [DS:H00263]
K18806	Joubert syndrome [DS:H00530]
K18806	Hydrolethalus syndrome [DS:H01265]
K18914	Auditory neuropathy [DS:H02339]
K18985	Primary intraosseous vascular malformation [DS:H02088]
K19001	Immunodeficiency-centromeric instability-facial anomalies syndrome [DS:H02308]
K19008	Early infantile epileptic encephalopathy [DS:H00606]
K19008	Early myoclonic encephalopathy [DS:H01819]
K19009	Spondyloepimetaphyseal dysplasia [DS:H02187]
K19016	Vitelliform macular dystrophy [DS:H00814]
K19017	Retinitis pigmentosa [DS:H00527]
K19017	Vitelliform macular dystrophy [DS:H00814]
K19021	Brachydactyly [DS:H00482]
K19025	Hereditary spastic paraplegia [DS:H00266]
K19026	Amyotrophic lateral sclerosis (ALS) [DS:H00058]
K19026	Hereditary spastic paraplegia [DS:H00266]
K19027	Hereditary spastic paraplegia [DS:H00266]
K19036	Charcot-Marie-Tooth disease [DS:H00264]
K19036	Distal hereditary motor neuropathies [DS:H00856]
K19054	Friedreich ataxia [DS:H00067]
K19177	Congenital disorders of glycosylation type I [DS:H00118]
K19177	Autosomal dominant mental retardation [DS:H00773]
K19284	Amelogenesis imperfecta [DS:H00615]
K19289	Charcot-Marie-Tooth disease [DS:H00264]
K19289	Hereditary neuropathy with liability to pressure palsies [DS:H01296]
K19289	Guillain-Barre syndrome [DS:H01436]
K19289	Dejerine-Sottas disease [DS:H02359]
K19306	Williams-Beuren syndrome [DS:H01439]
K19323	Spinocerebellar ataxia (SCA) [DS:H00063]
K19324	Spinocerebellar ataxia (SCA) [DS:H00063]
K19326	Emery-Dreifuss muscular dystrophy [DS:H00563]
K19326	Autosomal recessive spinocerebellar ataxias [DS:H01891]
K19326	Arthrogryposis multiplex congenita [DS:H02299]
K19327	Autosomal recessive spinocerebellar ataxias [DS:H01891]
K19328	Autosomal recessive spinocerebellar ataxias [DS:H01891]
K19329	Early infantile epileptic encephalopathy [DS:H00606]
K19329	Autosomal recessive spinocerebellar ataxias [DS:H01891]
K19330	Autosomal recessive spinocerebellar ataxias [DS:H01891]
K19331	Bartter syndrome [DS:H00239]
K19332	Meckel syndrome [DS:H00261]
K19332	Bardet-Biedl syndrome [DS:H00418]
K19332	Joubert syndrome [DS:H00530]
K19346	Emery-Dreifuss muscular dystrophy [DS:H00563]
K19348	Meckel syndrome [DS:H00261]
K19348	Joubert syndrome [DS:H00530]
K19348	Nephronophthisis [DS:H00537]
K19348	COACH syndrome [DS:H01001]
K19352	Meckel syndrome [DS:H00261]
K19352	Joubert syndrome [DS:H00530]
K19352	COACH syndrome [DS:H01001]
K19360	Meckel syndrome [DS:H00261]
K19360	Nephronophthisis [DS:H00537]
K19360	Renal-hepatic-pancreatic dysplasia [DS:H00543]
K19361	Meckel syndrome [DS:H00261]
K19361	Joubert syndrome [DS:H00530]
K19362	Meckel syndrome [DS:H00261]
K19362	Joubert syndrome [DS:H00530]
K19363	Charcot-Marie-Tooth disease [DS:H00264]
K19364	Hereditary spastic paraplegia [DS:H00266]
K19365	Hereditary spastic paraplegia [DS:H00266]
K19365	Congenital generalized lipodystrophy [DS:H00419]
K19365	Distal hereditary motor neuropathies [DS:H00856]
K19366	Hereditary spastic paraplegia [DS:H00266]
K19367	Hereditary spastic paraplegia [DS:H00266]
K19368	Hereditary spastic paraplegia [DS:H00266]
K19369	Charcot-Marie-Tooth disease [DS:H00264]
K19374	Williams-Beuren syndrome [DS:H01439]
K19382	Oral-facial-digital syndrome [DS:H00454]
K19382	Joubert syndrome [DS:H00530]
K19383	Holoprosencephaly [DS:H00267]
K19385	Meckel syndrome [DS:H00261]
K19385	Joubert syndrome [DS:H00530]
K19387	Congenital generalized lipodystrophy [DS:H00419]
K19398	Bardet-Biedl syndrome [DS:H00418]
K19399	Bardet-Biedl syndrome [DS:H00418]
K19400	Bardet-Biedl syndrome [DS:H00418]
K19401	Bardet-Biedl syndrome [DS:H00418]
K19402	Bardet-Biedl syndrome [DS:H00418]
K19403	Primary microcephaly [DS:H00269]
K19404	Woolly hair [DS:H00667]
K19404	Localized autosomal recessive hypotrichosis [DS:H00784]
K19404	Hypotrichosis [DS:H00786]
K19407	Osteopathia striata with cranial sclerosis [DS:H00444]
K19407	Nephroblastoma [DS:H02301]
K19408	Rolandic epilepsy, mental retardation, and speech dyspraxia [DS:H01827]
K19410	Buschke-Ollendorff syndrome [DS:H00452]
K19415	Syndromic X-linked mental retardation [DS:H00658]
K19464	Charcot-Marie-Tooth disease [DS:H00264]
K19464	Distal hereditary motor neuropathies [DS:H00856]
K19465	Mitochondrial DNA depletion syndrome [DS:H00469]
K19466	Oral-facial-digital syndrome [DS:H00454]
K19467	Multiple epiphyseal dysplasia [DS:H00476]
K19467	SEMD, Matrilin type [DS:H00767]
K19469	Type 2 diabetes mellitus [DS:H00409]
K19469	Growth retardation, developmental delay, coarse facies, and early death [DS:H00926]
K19469	Genetic obesity [DS:H02106]
K19470	Type 1 diabetes mellitus [DS:H00408]
K19471	Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal [DS:H02318]
K19473	Holoprosencephaly [DS:H00267]
K19473	Schizencephaly [DS:H01160]
K19473	Optic disc anomalies with retinal and/or macular dystrophy [DS:H02231]
K19474	Branchio-oto-renal syndrome [DS:H00453]
K19475	Wiskott-Aldrich syndrome [DS:H01523]
K19478	Congenital disorders of glycosylation type I [DS:H00118]
K19479	Metaphyseal dysplasias [DS:H00479]
K19480	Gnathodiaphyseal dysplasia [DS:H00498]
K19480	Limb-girdle muscular dystrophy [DS:H00593]
K19480	Distal myopathy [DS:H00594]
K19480	Miyoshi myopathy [DS:H01965]
K19481	Keutel syndrome [DS:H00500]
K19482	Prader-Willi syndrome [DS:H00478]
K19485	Transient neonatal diabetes mellitus [DS:H00513]
K19495	Type 2 diabetes mellitus [DS:H00409]
K19498	Primary dystonia [DS:H00831]
K19500	Scott syndrome [DS:H01162]
K19511	Anterior segment dysgenesis [DS:H01159]
K19512	Hypospadias [DS:H02175]
K19513	Type 1 diabetes mellitus [DS:H00408]
K19514	Congenital disorders of glycosylation type II [DS:H00119]
K19514	Syndromic X-linked mental retardation [DS:H00658]
K19519	Reis-Bucklers corneal dystrophy [DS:H00951]
K19519	Thiel-Behnke dystrophies [DS:H00952]
K19519	Granular corneal dystrophies [DS:H00955]
K19519	Lattice corneal dystrophies [DS:H00956]
K19519	Epithelial basement membrane corneal dystrophy [DS:H01221]
K19521	Mitchell-Riley syndrome [DS:H01377]
K19522	McLeod syndrome [DS:H00655]
K19522	Core neuroacanthocytosis syndromes [DS:H00832]
K19524	Hereditary spastic paraplegia [DS:H00266]
K19525	Core neuroacanthocytosis syndromes [DS:H00832]
K19525	Choreoacanthocytosis [DS:H01432]
K19525	Parkinsonian syndrome [DS:H01600]
K19526	Cohen syndrome [DS:H00940]
K19527	Autosomal recessive spinocerebellar ataxias [DS:H01891]
K19528	Azoospermia [DS:H00890]
K19528	Spermatogenic failure [DS:H01282]
K19530	Charcot-Marie-Tooth disease [DS:H00264]
K19530	Core neuroacanthocytosis syndromes [DS:H00832]
K19530	Huntington disease-like syndrome [DS:H01243]
K19531	Congenital dyserythropoietic anemias (CDAs) [DS:H00917]
K19532	Pelger-Huet anomaly [DS:H00234]
K19532	HEM skeletal dysplasia [DS:H00447]
K19532	Reynolds syndrome [DS:H01133]
K19534	Premature ovarian failure [DS:H00627]
K19534	Spermatogenic failure [DS:H01282]
K19538	Retinitis pigmentosa [DS:H00527]
K19538	Occult macular dystrophy [DS:H01010]
K19539	Abnormal thyroid hormone metabolism [DS:H01186]
K19572	Polyarteritis nodosa [DS:H01382]
K19574	3M syndrome [DS:H00509]
K19600	Retinitis pigmentosa [DS:H00527]
K19600	Leber congenital amaurosis [DS:H00837]
K19601	Retinitis pigmentosa [DS:H00527]
K19602	Retinitis pigmentosa [DS:H00527]
K19604	Retinitis pigmentosa [DS:H00527]
K19605	Ellis-van Creveld syndrome [DS:H00503]
K19605	Weyers acrofacial dysostosis [DS:H02158]
K19606	Osteogenesis imperfecta [DS:H00506]
K19607	Cone-rod dystrophy and cone dystrophy [DS:H00481]
K19607	Retinitis pigmentosa [DS:H00527]
K19608	Ellis-van Creveld syndrome [DS:H00503]
K19608	Acrofacial dysostosis [DS:H01376]
K19608	Weyers acrofacial dysostosis [DS:H02158]
K19613	Noonan syndrome and related disorders [DS:H00523]
K19613	Noonan-like syndrome with loose anagen hair [DS:H02191]
K19614	Osteogenesis imperfecta [DS:H00506]
K19619	Autosomal recessive spinocerebellar ataxias [DS:H01891]
K19625	Retinitis pigmentosa [DS:H00527]
K19625	Familial flecked retina syndrome [DS:H00825]
K19625	Newfoundland rod-cone dystrophy [DS:H01009]
K19626	Nephronophthisis [DS:H00537]
K19627	Retinitis pigmentosa [DS:H00527]
K19627	Congenital stationary night blindness [DS:H00787]
K19636	Retinitis pigmentosa [DS:H00527]
K19636	Usher syndrome (US) [DS:H00779]
K19637	Retinitis pigmentosa [DS:H00527]
K19638	Hennekam lymphangiectasia-lymphedema syndrome [DS:H02169]
K19655	Leber congenital amaurosis [DS:H00837]
K19656	Cranioectodermal dysplasia [DS:H00529]
K19657	Joubert syndrome [DS:H00530]
K19657	Nephronophthisis [DS:H00537]
K19657	Senior-Loken syndrome [DS:H00538]
K19663	Spinocerebellar ataxia (SCA) [DS:H00063]
K19671	Cranioectodermal dysplasia [DS:H00529]
K19671	Nephronophthisis [DS:H00537]
K19671	Senior-Loken syndrome [DS:H00538]
K19671	Asphyxiating thoracic dystrophy [DS:H00751]
K19671	Short-rib thoracic dysplasia [DS:H02157]
K19672	Retinitis pigmentosa [DS:H00527]
K19672	Short-rib thoracic dysplasia [DS:H02157]
K19673	Joubert syndrome [DS:H00530]
K19673	Nephronophthisis [DS:H00537]
K19673	Asphyxiating thoracic dystrophy [DS:H00751]
K19673	Short-rib thoracic dysplasia [DS:H02157]
K19674	Short rib-polydactyly syndrome [DS:H00511]
K19674	Cranioectodermal dysplasia [DS:H00529]
K19674	Short-rib thoracic dysplasia [DS:H02157]
K19675	Retinitis pigmentosa [DS:H00527]
K19675	Cranioectodermal dysplasia [DS:H00529]
K19675	Short-rib thoracic dysplasia [DS:H02157]
K19676	Retinitis pigmentosa [DS:H00527]
K19676	Short-rib thoracic dysplasia [DS:H02157]
K19677	Short-rib thoracic dysplasia [DS:H02157]
K19678	Asphyxiating thoracic dystrophy [DS:H00751]
K19678	Short-rib thoracic dysplasia [DS:H02157]
K19679	Bardet-Biedl syndrome [DS:H00418]
K19680	Senior-Loken syndrome [DS:H00538]
K19681	Short-rib thoracic dysplasia [DS:H02157]
K19703	Hereditary spastic paraplegia [DS:H00266]
K19719	Osteoarthritis with mild chondrodysplasia [DS:H00445]
K19719	Multiple epiphyseal dysplasia [DS:H00476]
K19719	Spondyloepiphyseal dysplasia congenita [DS:H00519]
K19719	Type II collagenopathies [DS:H00520]
K19719	Vitreoretinal degeneration [DS:H00805]
K19719	Legg-Calve-Perthes Disease [DS:H01526]
K19719	Avascular necrosis of femoral head [DS:H01529]
K19719	Glucocorticoid-induced osteonecrosis [DS:H01709]
K19719	Achondrogenesis type II [DS:H02066]
K19719	Kniest dysplasia [DS:H02070]
K19719	Czech dysplasia [DS:H02071]
K19719	Stickler syndrome [DS:H02072]
K19719	Spondyloepimetaphyseal dysplasia [DS:H02187]
K19720	Ehlers-Danlos syndrome vascular type [DS:H02242]
K19721	Ossification of the posterior longitudinal ligament of spine [DS:H00431]
K19721	Deafness, autosomal dominant [DS:H00604]
K19721	Deafness, autosomal recessive [DS:H00605]
K19721	Ehlers-Danlos syndrome [DS:H00802]
K19721	Vitreoretinal degeneration [DS:H00805]
K19721	Stickler syndrome [DS:H02072]
K19721	Oto-spondylo-megaepiphyseal dysplasia [DS:H02079]
K19721	Fibrochondrogenesis [DS:H02080]
K19721	Marshall syndrome [DS:H02081]
K19721	Steel syndrome [DS:H02300]
K19728	Familial hemophagocytic lymphohistiocytosis [DS:H00109]
K19748	Geroderma osteodysplasticum [DS:H00558]
K19749	Smith-Magenis syndrome [DS:H01791]
K19750	Primary ciliary dyskinesia [DS:H00564]
K19751	Primary ciliary dyskinesia [DS:H00564]
K19752	Primary ciliary dyskinesia [DS:H00564]
K19753	Primary ciliary dyskinesia [DS:H00564]
K19754	Primary ciliary dyskinesia [DS:H00564]
K19755	Primary ciliary dyskinesia [DS:H00564]
K19756	Primary ciliary dyskinesia [DS:H00564]
K19757	Primary ciliary dyskinesia [DS:H00564]
K19758	Primary ciliary dyskinesia [DS:H00564]
K19758	Dyslexia [DS:H01899]
K19759	Primary ciliary dyskinesia [DS:H00564]
K19827	Lissencephaly [DS:H00268]
K19865	Polycystic kidney disease [DS:H00542]
K19865	Potter syndrome [DS:H01728]
K19866	Cutis laxa [DS:H00557]
K19867	Dilated cardiomyopathy [DS:H00294]
K19867	Myofibrillar myopathies [DS:H00595]
K19867	Left ventricular noncompaction [DS:H01216]
K19868	Primary ciliary dyskinesia [DS:H00564]
K19870	Primary ciliary dyskinesia [DS:H00564]
K19871	Townes-Brocks syndrome [DS:H00573]
K19871	Duane-radial ray syndrome [DS:H00634]
K19871	Ocular coloboma [DS:H01114]
K19871	IVIC syndrome [DS:H02283]
K19872	Muscular dystrophy-dystroglycanopathy type A [DS:H00120]
K19872	Dilated cardiomyopathy [DS:H00294]
K19872	Limb-girdle muscular dystrophy [DS:H00593]
K19872	Fukuyama congenital muscular dystrophy [DS:H01957]
K19872	Muscular dystrophy-dystroglycanopathy type C [DS:H01959]
K19872	Muscular dystrophy-dystroglycanopathy type B [DS:H01960]
K19872	Muscular dystrophy-dystroglycanopathy [DS:H02307]
K19873	Muscular dystrophy-dystroglycanopathy type A [DS:H00120]
K19873	Limb-girdle muscular dystrophy [DS:H00593]
K19873	Muscular dystrophy-dystroglycanopathy type C [DS:H01959]
K19873	Muscular dystrophy-dystroglycanopathy type B [DS:H01960]
K19873	Congenital muscular dystrophy type 1C [DS:H01961]
K19873	Muscular dystrophy-dystroglycanopathy [DS:H02307]
K19874	Congenital fiber type disproportion [DS:H00701]
K19874	Multi-minicore disease [DS:H01310]
K19875	Myofibrillar myopathies [DS:H00595]
K19875	Spheroid body myopathy [DS:H01291]
K19879	Dilated cardiomyopathy [DS:H00294]
K19879	Limb-girdle muscular dystrophy [DS:H00593]
K19902	Congenital myasthenic syndrome [DS:H00770]
K19926	Oocyte maturation defect [DS:H01897]
K19927	Oocyte maturation defect [DS:H01897]
K19928	Oocyte maturation defect [DS:H01897]
K19937	Warburg micro syndrome [DS:H00792]
K19937	Martsolf syndrome [DS:H00797]
K19941	Symptomatic generalized epilepsies [DS:H00577]
K19941	Schizophrenia [DS:H01649]
K19942	Primary ciliary dyskinesia [DS:H00564]
K19946	Amyotrophic lateral sclerosis (ALS) [DS:H00058]
K19946	Primary open angle glaucoma [DS:H00612]
K19949	Deafness, autosomal recessive [DS:H00605]
K19951	Nephrotic syndrome [DS:H01657]
K19970	Calcification of joints and arteries [DS:H00824]
K19985	SEMD with joint laxity type [DS:H01494]
K19986	Neurodevelopmental disorder with microcephaly [DS:H02461]
K20001	Hyperlipoproteinemia, type I [DS:H00154]
K20001	Primary hyperchylomicronemia [DS:H01784]
K20012	Multiple synostosis syndrome [DS:H00484]
K20012	Leber congenital amaurosis [DS:H00837]
K20012	Klippel-Feil syndrome [DS:H00852]
K20012	Microphthalmia [DS:H01027]
K20028	X-linked mental retardation [DS:H00480]
K20033	Holoprosencephaly [DS:H00267]
K20050	Oculopharyngodistal myopathy [DS:H02513]
K20051	Sclerosteosis [DS:H00486]
K20051	Congenital myasthenic syndrome [DS:H00770]
K20051	Cenani-Lenz syndactyly syndrome [DS:H00853]
K20053	Cerebellar ataxia, mental retardation (MR), and dysequilibrium syndrome (CAMRQ) [DS:H01204]
K20054	Spinocerebellar ataxia (SCA) [DS:H00063]
K20056	Deafness, autosomal recessive [DS:H00605]
K20056	Oculopharyngodistal myopathy [DS:H02513]
K20068	Neurodegeneration with brain iron accumulation [DS:H00833]
K20069	Early infantile epileptic encephalopathy [DS:H00606]
K20070	Megaloencephalic leukoencephalopathy with subcortical cysts [DS:H00875]
K20091	Epileptic encephalopathy, childhood-onset [DS:H02360]
K20164	Early infantile epileptic encephalopathy [DS:H00606]
K20174	Deafness, autosomal dominant [DS:H00604]
K20179	Hypomyelinating leukodystrophy [DS:H00679]
K20182	Mucopolysaccharidosis-plus syndrome [DS:H02205]
K20186	Hermansky-Pudlak syndrome [DS:H00166]
K20188	Hermansky-Pudlak syndrome [DS:H00166]
K20189	Hermansky-Pudlak syndrome [DS:H00166]
K20190	Hermansky-Pudlak syndrome [DS:H00166]
K20191	Hermansky-Pudlak syndrome [DS:H00166]
K20192	Hermansky-Pudlak syndrome [DS:H00166]
K20193	Hermansky-Pudlak syndrome [DS:H00166]
K20194	Hermansky-Pudlak syndrome [DS:H00166]
K20196	Retinitis pigmentosa [DS:H00527]
K20225	Autosomal dominant mental retardation [DS:H00773]
K20251	Fraser syndrome [DS:H00687]
K20278	Joubert syndrome [DS:H00530]
K20279	Early infantile epileptic encephalopathy [DS:H00606]
K20279	Parkinsonian syndrome [DS:H01600]
K20288	Congenital disorders of glycosylation type II [DS:H00119]
K20289	Congenital disorders of glycosylation type II [DS:H00119]
K20291	Congenital disorders of glycosylation type II [DS:H00119]
K20292	Congenital disorders of glycosylation type II [DS:H00119]
K20293	Congenital disorders of glycosylation type II [DS:H00119]
K20294	Congenital disorders of glycosylation type II [DS:H00119]
K20295	Congenital disorders of glycosylation type II [DS:H00119]
K20299	Pontocerebellar hypoplasia [DS:H00897]
K20301	Spondyloepiphyseal dysplasia tarda [DS:H00760]
K20301	Early-onset progressive encephalopathy [DS:H02472]
K20303	Neurodevelopmental disorder with structural brain abnormalities [DS:H02470]
K20304	Neurodevelopmental disorder with microcephaly [DS:H02461]
K20306	Autosomal recessive mental retardation [DS:H00768]
K20308	Limb-girdle muscular dystrophy [DS:H00593]
K20309	Early-onset progressive encephalopathy [DS:H02472]
K20364	Combined deficiency of factors V and VIII [DS:H00221]
K20365	Arthrogryposis multiplex congenita [DS:H02299]
K20372	Warburg micro syndrome [DS:H00792]
K20396	Autosomal recessive macrocephaly/megalencephaly syndrome [DS:H02446]
K20398	P14 deficiency [DS:H01218]
K20404	Familial focal epilepsy with variable foci [DS:H02214]
K20405	Familial focal epilepsy with variable foci [DS:H02214]
K20406	Familial focal epilepsy with variable foci [DS:H02214]
K20471	Syndromic disorder with short stature [DS:H02481]
K20473	Infantile liver failure [DS:H01367]
K20473	Syndromic disorder with short stature [DS:H02481]
K20474	Infantile liver failure [DS:H01367]
K20476	CATIFA syndrome [DS:H02478]
K20630	Duane retraction syndrome [DS:H00633]
K20646	Adams-Oliver syndrome [DS:H01413]
K20650	Syndromic X-linked mental retardation [DS:H00658]
K20686	Early infantile epileptic encephalopathy [DS:H00606]
K20686	Hyperekplexia and epilepsy [DS:H02353]
K20705	Cataract [DS:H01202]
K20719	Amyotrophic lateral sclerosis (ALS) [DS:H00058]
K20719	Distal hereditary motor neuropathies [DS:H00856]
K20722	Hereditary spastic paraplegia [DS:H00266]
K20731	Familial carpal tunnel syndrome [DS:H00798]
K20731	Familial amyloidosis [DS:H00845]
K20732	Primary localized cutaneous amyloidosis [DS:H01217]
K20773	Seckel syndrome [DS:H00992]
K20779	RIDDLE syndrome [DS:H00962]
K20791	Microphthalmia, syndromic [DS:H02170]
K20792	Autosomal dominant mental retardation [DS:H00773]
K20795	Patent ductus arteriosus [DS:H01630]
K20797	Progressive myoclonic epilepsy [DS:H00810]
K20864	Recurrent hydatidiform moles [DS:H00289]
K20865	Familial cold autoinflammatory syndrome [DS:H02159]
K20872	Retinitis pigmentosa [DS:H00527]
K20877	Nephronophthisis [DS:H00537]
K20878	Lethal congenital contractural syndrome [DS:H00865]
K20879	Primary ciliary dyskinesia [DS:H00564]
K20909	Hyaline fibromatosis syndrome [DS:H00614]
K20909	Infantile hemangioma [DS:H01482]
K20913	Psoriasis [DS:H01656]
K20913	Pityriasis rubra pilaris [DS:H01659]
K20967	Molybdenum cofactor deficiency [DS:H02311]
K20994	Type 2 diabetes mellitus [DS:H00409]
K20994	Alagille syndrome [DS:H00551]
K20994	Hajdu-Cheney syndrome [DS:H00623]
K20995	Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) [DS:H00536]
K20995	Lateral meningocele syndrome [DS:H01893]
K20995	Infantile myofibromatosis [DS:H01910]
K20996	Breast cancer [DS:H00031]
K21027	Infantile liver failure [DS:H01367]
K21031	Muscular dystrophy-dystroglycanopathy type A [DS:H00120]
K21031	Limb-girdle muscular dystrophy [DS:H00593]
K21031	Muscular dystrophy-dystroglycanopathy type C [DS:H01959]
K21031	Muscular dystrophy-dystroglycanopathy [DS:H02307]
K21032	Muscular dystrophy-dystroglycanopathy type A [DS:H00120]
K21032	Muscular dystrophy-dystroglycanopathy [DS:H02307]
K21052	Muscular dystrophy-dystroglycanopathy type A [DS:H00120]
K21052	Muscular dystrophy-dystroglycanopathy [DS:H02307]
K21066	Retinitis pigmentosa [DS:H00527]
K21073	Dilated cardiomyopathy [DS:H00294]
K21073	Congenital myopathy [DS:H01810]
K21096	Allergic rhinitis [DS:H01360]
K21096	Eosinophilic esophagitis [DS:H01361]
K21098	X-linked mental retardation [DS:H00480]
K21108	Limb-girdle muscular dystrophy [DS:H00593]
K21124	Chronic mucocutaneous candidiasis [DS:H01109]
K21124	Psoriasis [DS:H01656]
K21283	Brachydactyly [DS:H00482]
K21283	Syndromic disorder with short stature [DS:H02481]
K21290	Ataxia with ocular apraxia [DS:H00848]
K21361	Atrial septal defect [DS:H00546]
K21361	Ventricular septal defect [DS:H01926]
K21392	Ehlers-Danlos syndrome [DS:H00802]
K21398	Hypochromic microcytic anemia [DS:H01196]
K21412	Primary microcephaly [DS:H00269]
K21415	Nephronophthisis [DS:H00537]
K21421	IFN-gamma/IL-12 axis [DS:H00089]
K21421	Chronic granulomatous disease [DS:H00098]
K21421	Granulibacter infection [DS:H01167]
K21436	KBG syndrome [DS:H02327]
K21456	Anemia due to disorders of glutathione metabolism [DS:H00668]
K21456	Glutathione synthetase deficiency [DS:H02312]
K21594	Early infantile epileptic encephalopathy [DS:H00606]
K21596	Nonprogressive cerebellar ataxia with mental retardation [DS:H02273]
K21598	Primary hyperparathyroidism [DS:H00246]
K21598	Hypoparathyroidism [DS:H01862]
K21762	Primary microcephaly [DS:H00269]
K21763	Nephronophthisis [DS:H00537]
K21765	Oral-facial-digital syndrome [DS:H00454]
K21767	PEBAT [DS:H02261]
K21768	Kenny-Caffey syndrome [DS:H00619]
K21768	Hypoparathyroidism-retardation-dysmorphism syndrome [DS:H00622]
K21772	Autosomal dominant mental retardation [DS:H00773]
K21841	Deafness, autosomal dominant [DS:H00604]
K21841	Deafness, autosomal recessive [DS:H00605]
K21841	Early infantile epileptic encephalopathy [DS:H00606]
K21841	Malignant migrating partial seizures in infancy [DS:H01815]
K21841	Familial infantile myoclonic epilepsy [DS:H02212]
K21841	DOORS syndrome [DS:H02218]
K21843	Gastrointestinal defects and immunodeficiency syndrome [DS:H02331]
K21844	Hypomyelinating leukodystrophy [DS:H00679]
K21848	Early infantile epileptic encephalopathy [DS:H00606]
K21852	Early infantile epileptic encephalopathy [DS:H00606]
K21852	Autosomal dominant mental retardation [DS:H00773]
K21852	Adams-Oliver syndrome [DS:H01413]
K21852	Hyper-IgE syndrome [DS:H01968]
K21863	Infantile hypotonia with psychomotor retardation and characteristic facies [DS:H01922]
K21870	Nestor-Guillermo progeria syndrome [DS:H01883]
K21876	Spermatogenic failure [DS:H01282]
K21877	Deafness, autosomal recessive [DS:H00605]
K21877	Usher syndrome (US) [DS:H00779]
K21878	Usher syndrome (US) [DS:H00779]
K21879	Deafness, autosomal recessive [DS:H00605]
K21879	Usher syndrome (US) [DS:H00779]
K21882	Deafness, autosomal recessive [DS:H00605]
K21882	Usher syndrome (US) [DS:H00779]
K21891	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome [DS:H02415]
K21913	Nemaline myopathy [DS:H00698]
K21914	Primary dystonia [DS:H00831]
K21917	Progressive myoclonic epilepsy [DS:H00810]
K21945	Familial advanced sleep phase syndrome [DS:H00688]
K21946	Hypogonadotropic hypogonadism [DS:H00255]
K21951	Radioulnar synostosis with amegakaryocytic thrombocytopenia [DS:H00867]
K21954	Cataract [DS:H01202]
K21956	Cone-rod dystrophy and cone dystrophy [DS:H00481]
K21957	Amelogenesis imperfecta [DS:H00615]
K21958	Raine syndrome [DS:H00968]
K21969	Combined oxidative phosphorylation deficiency [DS:H00891]
K21988	Deafness, autosomal dominant [DS:H00604]
K21988	Deafness, autosomal recessive [DS:H00605]
K21988	Epidermodysplasia verruciformis [DS:H00842]
K21989	Hypomyelinating leukodystrophy [DS:H00679]
K21991	Cataract [DS:H01202]
K21999	Cryptorchidism [DS:H02176]
K22028	Dilated cardiomyopathy [DS:H00294]
K22028	Nemaline myopathy [DS:H00698]
K22030	Nemaline myopathy [DS:H00698]
K22038	Agammaglobulinemias [DS:H00085]
K22040	Trichorhinophalangeal syndrome [DS:H00977]
K22045	Syndromic intellectual developmental disorder [DS:H02463]
K22046	Syndromic intellectual developmental disorder [DS:H02463]
K22063	Multiple mitochondrial dysfunctions syndrome [DS:H01894]
K22068	Myopathy with lactic acidosis and sideroblastic anaemia [DS:H00898]
K22069	Combined oxidative phosphorylation deficiency [DS:H00891]
K22072	Multiple mitochondrial dysfunctions syndrome [DS:H01894]
K22073	Hereditary spastic paraplegia [DS:H00266]
K22073	Multiple mitochondrial dysfunctions syndrome [DS:H01894]
K22074	Multiple mitochondrial dysfunctions syndrome [DS:H01894]
K22075	Multiple mitochondrial dysfunctions syndrome [DS:H01894]
K22076	Encephalopathy due to defective mitochondrial and peroxisomal fission [DS:H01900]
K22077	Charcot-Marie-Tooth disease [DS:H00264]
K22117	Brown-Vialetto-Van Laere syndrome [DS:H01903]
K22128	Hereditary stomatocytosis [DS:H00232]
K22128	Lymphatic malformation [DS:H00535]
K22128	Distal arthrogryposis [DS:H00811]
K22128	Dehydrated hereditary stomatocytosis [DS:H01978]
K22128	Familial pseudohyperkalemia [DS:H02001]
K22138	Mitochondrial pyruvate carrier deficiency [DS:H02197]
K22146	Deafness, autosomal dominant [DS:H00604]
K22147	Deafness, autosomal recessive [DS:H00605]
K22182	Familial glucocorticoid deficiency [DS:H00256]
K22183	Dyskeratosis congenita [DS:H00507]
K22183	Aplastic anemia [DS:H01132]
K22183	Idiopathic pulmonary fibrosis [DS:H01299]
K22234	Gastric cancer [DS:H00018]
K22235	Other phagocyte defects [DS:H00101]
K22235	Griscelli syndrome [DS:H02022]
K22236	Epidermolysis bullosa simplex [DS:H00584]
K22262	Primary microcephaly [DS:H00269]
K22283	Hepatic lipase deficiency [DS:H02329]
K22287	Hyperlipoproteinemia, type I [DS:H00154]
K22287	Hyperlipidemia [DS:H01635]
K22287	Primary hyperchylomicronemia [DS:H01784]
K22288	Familial hypobetalipoproteinemia [DS:H01270]
K22290	Myopia [DS:H02041]
K22382	Skraban-Deardorff syndrome [DS:H02337]
K22383	Common variable immunodeficiency [DS:H00088]
K22383	Syndromic neurodevelopmental disorder [DS:H02459]
K22398	Familial glucocorticoid deficiency [DS:H00256]
K22399	Mosaic variegated aneuploidy syndrome [DS:H01288]
K22399	Oocyte maturation defect [DS:H01897]
K22402	Joint laxity, short stature, and myopia [DS:H02502]
K22403	Neurodevelopmental disorder with dysmorphic facies and skeletal anomalies [DS:H02460]
K22410	Left ventricular noncompaction [DS:H01216]
K22413	Early infantile epileptic encephalopathy [DS:H00606]
K22420	Spermatogenic failure [DS:H01282]
K22422	Microcephaly syndrome [DS:H02132]
K22428	Hypophosphatemic rickets [DS:H00214]
K22428	Familial tumoral calcinosis [DS:H01193]
K22428	Autosomal dominant hypophosphatemic rickets [DS:H02141]
K22459	Myopia [DS:H02041]
K22495	Ovarian dysgenesis [DS:H00599]
K22495	Spermatogenic failure [DS:H01282]
K22499	Cushing syndrome [DS:H01431]
K22499	Bilateral macronodular adrenal hyperplasia [DS:H02049]
K22503	Hypomyelination with brainstem and spinal cord involvement and leg spasticity [DS:H02433]
K22524	Deafness, autosomal recessive [DS:H00605]
K22526	Congenital megabladder [DS:H02495]
K22530	Hyperekplexia [DS:H00769]
K22533	Autosomal recessive mental retardation [DS:H00768]
K22534	Brittle cornea syndrome [DS:H01902]
K22544	Aicardi-Goutieres syndrome [DS:H00290]
K22582	Congenital myasthenic syndrome [DS:H00770]
K22591	Helsmoortel-van der Aa syndrome [DS:H02365]
K22592	Autosomal dominant mental retardation [DS:H00773]
K22593	Autosomal dominant mental retardation [DS:H00773]
K22608	Brachydactyly [DS:H00482]
K22611	Disseminated superficial actinic porokeratosis (DSAP) [DS:H00791]
K22628	Allergic contact dermatitis [DS:H01357]
K22630	Primary localized cutaneous amyloidosis [DS:H01217]
K22672	Klippel-Feil syndrome [DS:H00852]
K22672	Microphthalmia [DS:H01027]
K22673	Premature ovarian failure [DS:H00627]
K22733	Autosomal recessive congenital ichthyosis [DS:H00734]
K22734	Craniometaphyseal dysplasia [DS:H00491]
K22734	Familial articular chondrocalcinosis [DS:H01236]
K22754	Moyamoya disease [DS:H01396]
K22756	Seckel syndrome [DS:H00992]
K22758	Parkinson disease [DS:H00057]
K22759	Amyotrophic lateral sclerosis (ALS) [DS:H00058]
K22759	Frontotemporal dementia and amyotrophic lateral sclerosis [DS:H02342]
K22761	Myopia [DS:H02041]
K22764	Meckel syndrome [DS:H00261]
K22764	Oral-facial-digital syndrome [DS:H00454]
K22764	Joubert syndrome [DS:H00530]
K22765	Joubert syndrome [DS:H00530]
K22808	Spastic quadriplegic cerebral palsy [DS:H01097]
K22808	Nephrotic syndrome [DS:H01657]
K22816	Early infantile epileptic encephalopathy [DS:H00606]
K22827	Myopathy with extrapyramidal signs [DS:H02447]
K22858	Joubert syndrome [DS:H00530]
K22859	Oral-facial-digital syndrome [DS:H00454]
K22859	Joubert syndrome [DS:H00530]
K22862	Oral-facial-digital syndrome [DS:H00454]
K22862	Short-rib thoracic dysplasia [DS:H02157]
K22863	Bardet-Biedl syndrome [DS:H00418]
K22863	Congenital heart defects, hamartomas of tongue, and polysyndactyly [DS:H02455]
K22864	Joubert syndrome [DS:H00530]
K22865	Joubert syndrome [DS:H00530]
K22865	Short-rib thoracic dysplasia [DS:H02157]
K22866	Short-rib thoracic dysplasia [DS:H02157]
K22867	Joubert syndrome [DS:H00530]
K22868	Short-rib thoracic dysplasia [DS:H02157]
K22869	Short rib-polydactyly syndrome [DS:H00511]
K22869	Short-rib thoracic dysplasia [DS:H02157]
K22870	Systemic lupus erythematosus [DS:H00080]
K22870	Joubert syndrome [DS:H00530]
K22870	Nephronophthisis [DS:H00537]
K22913	Amyotrophic lateral sclerosis (ALS) [DS:H00058]
K22913	Charcot-Marie-Tooth disease [DS:H00264]
K22913	Polymicrogyria [DS:H00271]
K22913	Yunis-Varon syndrome [DS:H02127]
K22937	Other phagocyte defects [DS:H00101]
K22937	Chediak-Higashi syndrome [DS:H02021]
K22939	Microcephaly syndrome [DS:H02132]
K22961	Congenital stationary night blindness [DS:H00787]
K22990	Primary dystonia [DS:H00831]
K22990	Arthrogryposis multiplex congenita [DS:H02299]
K22991	Neurodegeneration with brain iron accumulation [DS:H00833]
K22991	Neurodevelopmental disorder with structural brain abnormalities [DS:H02470]
K23001	Limb-girdle muscular dystrophy [DS:H00593]
K23013	Familial idiopathic ventricular fibrillation [DS:H00730]
K23013	Autosomal dominant mental retardation [DS:H00773]
K23027	Primary open angle glaucoma [DS:H00612]
K23028	Opitz-GBBB syndrome [DS:H00583]
K23028	Oblique facial cleft [DS:H02202]
K23029	Juvenile absence epilepsy [DS:H02216]
K23029	Juvenile myoclonic epilepsy [DS:H02217]
K23033	Osteogenesis imperfecta [DS:H00506]
K23038	Autosomal recessive mental retardation [DS:H00768]
K23041	Autosomal dominant mental retardation [DS:H00773]
K23088	Microphthalmia [DS:H01027]
K23088	Microphthalmia, syndromic [DS:H02170]
K23090	Progressive pseudorheumatoid dysplasia [DS:H00758]
K23091	Ectodermal dysplasia, hair-nail type [DS:H00649]
K23092	Cerebellar, ocular, craniofacial, and genital syndrome [DS:H02496]
K23093	Poikiloderma with neutropenia [DS:H00793]
K23097	Tetra-amelia syndrome [DS:H00636]
K23099	Anonychia congenita [DS:H00683]
K23099	Nonsyndromic congenital nail disorder [DS:H01307]
K23100	Hemochromatosis [DS:H00211]
K23106	Hemochromatosis [DS:H00211]
K23112	Symptomatic generalized epilepsies [DS:H00577]
K23112	Neurodevelopmental disorder with structural brain abnormalities [DS:H02470]
K23113	Facioscapulohumeral muscular dystrophy [DS:H00591]
K23115	Autosomal recessive mental retardation [DS:H00768]
K23116	Megaloencephalic leukoencephalopathy with subcortical cysts [DS:H00875]
K23140	Hypogonadotropic hypogonadism [DS:H00255]
K23151	Autosomal recessive mental retardation [DS:H00768]
K23164	Optic atrophy [DS:H01020]
K23165	Mitochondrial complex III deficiency [DS:H02086]
K23166	3-Methylglutaconic aciduria [DS:H00754]
K23166	Optic atrophy [DS:H01020]
K23168	Hereditary spastic paraplegia [DS:H00266]
K23168	Neurodegeneration with brain iron accumulation [DS:H00833]
K23193	Autosomal dominant mental retardation [DS:H00773]
K23194	Autosomal dominant mental retardation [DS:H00773]
K23195	Autosomal dominant mental retardation [DS:H00773]
K23196	Autosomal dominant mental retardation [DS:H00773]
K23196	Lethal congenital contractural syndrome [DS:H00865]
K23203	Primary dystonia [DS:H00831]
K23214	Autosomal dominant mental retardation [DS:H00773]
K23215	Microphthalmia, syndromic [DS:H02170]
K23216	Autosomal dominant mental retardation [DS:H00773]
K23217	Autosomal dominant mental retardation [DS:H00773]
K23217	Schinzel-Giedion midface retraction syndrome [DS:H00922]
K23217	Myelodysplastic/myeloproliferative neoplasms [DS:H02410]
K23217	Atypical chronic myeloid leukemia [DS:H02412]
K23218	Autosomal dominant mental retardation [DS:H00773]
K23219	Autosomal dominant mental retardation [DS:H00773]
K23223	Spermatogenic failure [DS:H01282]
K23226	Glass syndrome [DS:H02146]
K23281	Arthrogryposis, renal dysfunction, and cholestasis [DS:H00950]
K23282	Osteopetrosis [DS:H00436]
K23286	Macrothrombocytopenia [DS:H01740]
K23286	Gray platelet syndrome [DS:H02097]
K23287	Arthrogryposis, renal dysfunction, and cholestasis [DS:H00950]
K23290	Autosomal dominant mental retardation [DS:H00773]
K23291	Autosomal recessive mental retardation [DS:H00768]
K23292	Neurodevelopmental disorder with structural brain abnormalities [DS:H02470]
K23294	Early infantile epileptic encephalopathy [DS:H00606]
K23295	Autosomal recessive mental retardation [DS:H00768]
K23298	Early infantile epileptic encephalopathy [DS:H00606]
K23309	PEHO syndrome [DS:H02252]
K23310	Borjeson-Forssman-Lehmann syndrome [DS:H01915]
K23311	Coats plus syndrome [DS:H02251]
K23312	Coats plus syndrome [DS:H02251]
K23314	Dyskeratosis congenita [DS:H00507]
K23318	Tooth agenesis [DS:H00625]
K23324	Hypohidrotic ectodermal dysplasia [DS:H00651]
K23325	Williams-Beuren syndrome [DS:H01439]
K23326	Syndromic intellectual developmental disorder [DS:H02463]
K23327	Hypomyelinating leukodystrophy [DS:H00679]
K23328	Hypophosphatemic rickets [DS:H00214]
K23328	Autosomal recessive hypophosphatemic rickets [DS:H02139]
K23330	Noonan syndrome and related disorders [DS:H00523]
K23330	Noonan syndrome [DS:H01738]
K23331	Woodhouse-Sakati syndrome [DS:H00682]
K23332	Spondyloepimetaphyseal dysplasia [DS:H02187]
K23341	Hereditary spastic paraplegia [DS:H00266]
K23342	Congenital contractural arachnodactyly [DS:H00660]
K23342	Distal arthrogryposis [DS:H00811]
K23343	3C syndrome [DS:H01568]
K23344	Spondyloepimetaphyseal dysplasia [DS:H02187]
K23345	Venous malformations [DS:H00531]
K23346	Hypohidrotic ectodermal dysplasia [DS:H00651]
K23353	Osteoporosis [DS:H01593]
K23354	Limb-girdle muscular dystrophy [DS:H00593]
K23357	Neurodevelopmental disorder with microcephaly [DS:H02461]
K23368	Achondrogenesis type IA [DS:H00678]
K23368	Odontochondrodysplasia [DS:H02349]
K23369	Ectopia lentis [DS:H00662]
K23379	Fraser syndrome [DS:H00687]
K23380	Bifid nose with or without anorectal and renal anomalies [DS:H00685]
K23380	Manitoba oculotrichoanal syndrome [DS:H00686]
K23380	Fraser syndrome [DS:H00687]
K23380	Trigonocephaly [DS:H01207]
K23389	Cowden syndrome [DS:H01222]
K23398	Congenital muscular dystrophies (CMD/MDC) [DS:H00590]
K23398	Spinal muscular atrophy with congenital bone fractures [DS:H02238]
K23401	Deafness, autosomal recessive [DS:H00605]
K23404	Complex lethal osteochondrodysplasia [DS:H02280]
K23405	Nephronophthisis [DS:H00537]
K23405	Deafness, autosomal recessive [DS:H00605]
K23407	Dilated cardiomyopathy [DS:H00294]
K23408	Immunodeficiency-centromeric instability-facial anomalies syndrome [DS:H02308]
K23409	Alopecia-mental retardation syndrome [DS:H02303]
K23410	Inherited thrombophilia [DS:H00223]
K23412	Familial encephalopathy with neuroserpin inclusion bodies [DS:H01212]
K23413	Hypogonadotropic hypogonadism [DS:H00255]
K23417	Tropical calcific pancreatitis [DS:H00932]
K23417	Hereditary pancreatitis [DS:H00933]
K23418	Spermatogenic failure [DS:H01282]
K23420	Netherton syndrome [DS:H00671]
K23420	Atopic dermatitis [DS:H01358]
K23421	Congenital diarrhea [DS:H01174]
K23424	Lissencephaly [DS:H00268]
K23436	Fuchs corneal dystrophy [DS:H00960]
K23438	Retinitis pigmentosa [DS:H00527]
K23440	Microphthalmia [DS:H01027]
K23441	Inflammatory bowel disease (IBD) [DS:H01227]
K23441	Ulcerative colitis [DS:H01466]
K23442	Amelogenesis imperfecta [DS:H00615]
K23443	Amelogenesis imperfecta [DS:H00615]
K23444	Amelogenesis imperfecta [DS:H00615]
K23445	Catecholaminergic polymorphic ventricular tachycardia [DS:H01019]
K23449	Catecholaminergic polymorphic ventricular tachycardia [DS:H01019]
K23455	Fuchs corneal dystrophy [DS:H00960]
K23455	Posterior polymorphous corneal dystrophy [DS:H00961]
K23456	Spondylometaphyseal dysplasia [DS:H02185]
K23457	Peeling skin syndrome [DS:H00737]
K23457	Hypotrichosis [DS:H00786]
K23460	Choroideremia [DS:H01116]
K23468	Vacuolar myopathy with CASQ1 aggregates [DS:H02320]
K23482	Cataract [DS:H01202]
K23483	Cataract [DS:H01202]
K23484	Charcot-Marie-Tooth disease [DS:H00264]
K23484	Centronuclear myopathy [DS:H00700]
K23484	Lethal congenital contractural syndrome [DS:H00865]
K23490	Methemoglobinemia [DS:H00235]
K23491	Chromosme 5p deletion syndrome [DS:H00764]
K23495	Williams-Beuren syndrome [DS:H01439]
K23498	Hereditary spastic paraplegia [DS:H00266]
K23498	Combined oxidative phosphorylation deficiency [DS:H00891]
K23499	Combined oxidative phosphorylation deficiency [DS:H00891]
K23502	Combined oxidative phosphorylation deficiency [DS:H00891]
K23504	3-Methylglutaconic aciduria [DS:H00754]
K23505	Mitochondrial complex I deficiency [DS:H00473]
K23506	Cytochrome c oxidase (COX) deficiency [DS:H01368]
K23507	Combined oxidative phosphorylation deficiency [DS:H00891]
K23531	Deafness, autosomal recessive [DS:H00605]
K23531	Congenital stationary night blindness [DS:H00787]
K23531	Cone-rod synaptic disorder [DS:H02469]
K23533	Autosomal recessive mental retardation [DS:H00768]
K23538	Deafness, autosomal recessive [DS:H00605]
K23541	Congenital disorders of glycosylation type II [DS:H00119]
K23542	Congenital disorders of glycosylation type II [DS:H00119]
K23543	Congenital disorders of glycosylation type II [DS:H00119]
K23552	Hyperphosphatasia with mental retardation syndrome [DS:H01488]
K23552	Inherited glycosylphosphatidylinositol deficiencies [DS:H01489]
K23553	Hyperphosphatasia with mental retardation syndrome [DS:H01488]
K23553	Inherited glycosylphosphatidylinositol deficiencies [DS:H01489]
K23555	Combined lipase deficiency [DS:H01101]
K23555	Primary hyperchylomicronemia [DS:H01784]
K23560	Mowat-Wilson syndrome [DS:H00908]
K23562	Cerebellar atrophy, visual impairment, and psychomotor retardation [DS:H02274]
K23573	Hereditary dentine disorders [DS:H00432]
K23573	Deafness, autosomal dominant [DS:H00604]
K23573	Dentin dysplasia [DS:H02348]
K23574	Deafness, autosomal dominant [DS:H00604]
K23574	Deafness, autosomal recessive [DS:H00605]
K23574	Bilateral sudden sensorineural hearing loss [DS:H01705]
K23581	Coffin-Siris syndrome [DS:H01403]
K23585	Focal segmental glomerulosclerosis [DS:H00626]
K23588	T-cell acute lymphoblastic leukemia [DS:H00002]
K23600	Amyotrophic lateral sclerosis (ALS) [DS:H00058]
K23605	Loeys-Dietz syndrome [DS:H00800]
K23609	Amyotrophic lateral sclerosis (ALS) [DS:H00058]
K23609	Frontotemporal dementia and amyotrophic lateral sclerosis [DS:H02342]
K23616	Spinocerebellar ataxia (SCA) [DS:H00063]
K23625	Spinocerebellar ataxia (SCA) [DS:H00063]
K23664	Carpenter syndrome [DS:H01888]
K23677	Deafness, autosomal recessive [DS:H00605]
K23681	Mal de Meleda [DS:H00695]
K23687	Macrocephaly, alopecia, cutis laxa, and scoliosis [DS:H00906]
K23693	Centronuclear myopathy [DS:H00700]
K23694	Deafness, autosomal recessive [DS:H00605]
K23705	Dyschromatosis universalis hereditaria [DS:H02350]
K23713	Native American myopathy [DS:H02084]
K23718	ZTTK syndrome [DS:H01769]
K23720	UV-sensitive syndrome [DS:H02131]
K23728	Primary ciliary dyskinesia [DS:H00564]
K23729	Primary ciliary dyskinesia [DS:H00564]
K23730	Primary ciliary dyskinesia [DS:H00564]
K23731	Primary ciliary dyskinesia [DS:H00564]
K23732	Primary ciliary dyskinesia [DS:H00564]
K23733	Primary ciliary dyskinesia [DS:H00564]
K23741	Autosomal recessive mental retardation [DS:H00768]
K23751	Deafness, autosomal recessive [DS:H00605]
K23755	Fatal infantile cardioencephalomyopathy [DS:H01200]
K23755	Cytochrome c oxidase (COX) deficiency [DS:H01368]
K23755	Myopia [DS:H02041]
K23790	Prostate cancer [DS:H00024]
K23803	Grange syndrome [DS:H02224]
K23815	Age-related macular degeneration [DS:H00821]
K23815	Atypical hemolytic uremic syndrome [DS:H01434]
K23817	Membranoproliferative glomerulonephritis [DS:H01726]
K23829	Systemic sclerosis [DS:H01492]
K23837	Deafness, autosomal recessive [DS:H00605]
K23837	Usher syndrome (US) [DS:H00779]
K23841	Retinitis pigmentosa [DS:H00527]
K23841	Usher syndrome (US) [DS:H00779]
K23844	Hypogonadotropic hypogonadism [DS:H00255]
K23845	Goldberg-Shprintzen megacolon syndrome [DS:H00936]
K23846	Primary dystonia [DS:H00831]
K23859	Leukodystrophy and acquired microcephaly with or without dystonia [DS:H02377]
K23863	Osteopetrosis [DS:H00436]
K23864	Primary dystonia [DS:H00831]
K23867	Lipoid proteinosis [DS:H00883]
K23868	Postaxial polydactyly [DS:H01852]
K23878	Punctate palmoplantar keratoderma [DS:H01404]
K23879	Frontotemporal lobar degeneration [DS:H00078]
K23879	Neuronal ceroid lipofuscinosis [DS:H00149]
K23880	Hereditary sensory and autonomic neuropathy [DS:H00265]
K23881	Hereditary spastic paraplegia [DS:H00266]
K23882	Wolfram syndrome [DS:H00854]
K23883	Vici syndrome [DS:H02133]
K23884	DeSanto-Shinawi syndrome [DS:H02103]
K23893	Deafness, autosomal recessive [DS:H00605]
K23894	Primary microcephaly [DS:H00269]
K23897	Primary dystonia [DS:H00831]
K23897	Benign familial infantile seizure [DS:H02362]
K23907	Deafness, autosomal recessive [DS:H00605]
K23910	Hemochromatosis [DS:H00211]
K23911	Retinitis pigmentosa [DS:H00527]
K23917	Premature ovarian failure [DS:H00627]
K23918	Dilated cardiomyopathy [DS:H00294]
K23919	Mycosis fungoides [DS:H01463]
K23920	Spinocerebellar ataxia (SCA) [DS:H00063]
K23931	Amelogenesis imperfecta [DS:H00615]
K23932	Spinocerebellar ataxia (SCA) [DS:H00063]
K23932	Autosomal recessive spinocerebellar ataxias [DS:H01891]
K23933	Spinocerebellar ataxia (SCA) [DS:H00063]
K23949	Familial tumoral calcinosis [DS:H01193]
K23950	Schaaf-Yang syndrome [DS:H02325]
K23951	Dyggve-Melchior-Clausen disease [DS:H00757]
K23951	Smith-McCort dysplasia [DS:H02497]
K23952	Autophagic vacuolar myopathy [DS:H01781]
K23956	X-linked mental retardation [DS:H00480]
K23958	Charcot-Marie-Tooth disease [DS:H00264]
K23958	Focal segmental glomerulosclerosis [DS:H00626]
K23961	Autosomal dominant mental retardation [DS:H00773]
K23964	STAR syndrome [DS:H01156]
K23965	Primary ciliary dyskinesia [DS:H00564]
K23967	Early infantile epileptic encephalopathy [DS:H00606]
K23967	Idiopathic generalized epilepsies [DS:H00808]
K23967	Malignant migrating partial seizures in infancy [DS:H01815]
K23970	Corpus callosum agenesis with facial anomalies and cerebellar ataxia [DS:H02396]
K23971	Congenital motor nystagmus (CMN) [DS:H00776]
K24013	Osteogenesis imperfecta [DS:H00506]
K24015	Infantile hypotonia with psychomotor retardation and characteristic facies [DS:H01922]
K24030	Primary ciliary dyskinesia [DS:H00564]
K24031	Dilated cardiomyopathy [DS:H00294]
K24032	Frank-ter Haar syndrome [DS:H01816]
K24038	Congenital myasthenic syndrome [DS:H00770]
K24038	Fetal akinesia deformation sequence [DS:H00987]
K24047	Deafness, autosomal recessive [DS:H00605]
K24047	Usher syndrome (US) [DS:H00779]
K24051	Ruijs-Aalfs syndrome [DS:H02323]
K24052	Dilated cardiomyopathy [DS:H00294]
K24063	Long QT syndrome [DS:H00720]
K24068	Early-onset myopathy, areflexia, respiratory distress, and dysphagia [DS:H02321]
K24069	Cone-rod dystrophy and cone dystrophy [DS:H00481]
K24080	Cataract [DS:H01202]
K24081	Spermatogenic failure [DS:H01282]
K24086	Williams-Beuren syndrome [DS:H01439]
K24123	Spermatogenic failure [DS:H01282]
K24125	Primary ciliary dyskinesia [DS:H00564]
K24127	Bartter syndrome [DS:H00239]
K24135	Charcot-Marie-Tooth disease [DS:H00264]
K24141	Familial adult myoclonic epilepsy [DS:H02213]
K24144	Cataract [DS:H01202]
K24144	Nance-Horan syndrome [DS:H01292]
K24145	Syndactyly [DS:H01095]
K24155	Deafness, autosomal dominant [DS:H00604]
K24155	Early infantile epileptic encephalopathy [DS:H00606]
K24164	Deafness, autosomal recessive [DS:H00605]
K24165	Retinitis pigmentosa [DS:H00527]
K24178	Spermatogenic failure [DS:H01282]
K24181	Common variable immunodeficiency [DS:H00088]
K24185	Congenital fibrosis of the extraocular muscles [DS:H00838]
K24190	Cataract [DS:H01202]
K24191	Hypogonadotropic hypogonadism [DS:H00255]
K24195	Familial idiopathic basal ganglia calcification [DS:H01574]
K24199	Premature ovarian failure [DS:H00627]
K24200	Oculocutaneous albinism [DS:H00168]
K24201	Lewy body dementia (LBD) [DS:H00066]
K24209	Deafness, X-linked [DS:H01209]
K24210	Autosomal recessive congenital ichthyosis [DS:H00734]
K24212	Late-onset retinal degeneration [DS:H01130]
K24219	Catecholaminergic polymorphic ventricular tachycardia [DS:H01019]
K24220	Distal arthrogryposis [DS:H00811]
K24220	Trismus-pseudocamptodactyly syndrome [DS:H00872]
K24220	Inclusion body myopathy 3 [DS:H01229]
K24222	Congenital muscular dystrophies (CMD/MDC) [DS:H00590]
K24223	Spermatogenic failure [DS:H01282]
K24223	Congenital hydrocephalus [DS:H01677]
K24224	Spermatogenic failure [DS:H01282]
K24225	Heterotaxy [DS:H00632]
K24226	Spermatogenic failure [DS:H01282]
K24227	Spermatogenic failure [DS:H01282]
K24228	Spermatogenic failure [DS:H01282]
K24229	Primary ciliary dyskinesia [DS:H00564]
K24230	Primary ciliary dyskinesia [DS:H00564]
K24242	Anemia due to disorders of nucleotide metabolism [DS:H00674]
K24253	Primary ciliary dyskinesia [DS:H00564]
K24254	Primary ciliary dyskinesia [DS:H00564]
K24255	Hereditary sensory and autonomic neuropathy [DS:H00265]
K24260	Hypogonadotropic hypogonadism [DS:H00255]
K24261	Primary microcephaly [DS:H00269]
K24262	Osteogenesis imperfecta [DS:H00506]
K24273	Myelodysplastic syndrome [DS:H01481]
K24273	Myelodysplastic/myeloproliferative neoplasms [DS:H02410]
K24273	Chronic myelomonocytic leukemia [DS:H02411]
K24274	Kenny-Caffey syndrome [DS:H00619]
K24274	Osteocraniostenosis [DS:H02223]
K24275	Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis [DS:H01906]
K24286	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome [DS:H00526]
K24294	Deafness, autosomal recessive [DS:H00605]
K24295	Diffuse panbronchiolitis [DS:H01713]
K24296	Diffuse panbronchiolitis [DS:H01713]
K24297	Ververi-Brady syndrome [DS:H02363]
K24298	Spermatogenic failure [DS:H01282]
K24309	Myelodysplastic syndrome [DS:H01481]
K24309	Peripheral T cell lymphoma [DS:H01892]
K24309	Myelodysplastic/myeloproliferative neoplasms [DS:H02410]
K24309	Chronic myelomonocytic leukemia [DS:H02411]
K24309	Atypical chronic myeloid leukemia [DS:H02412]
K24313	Charcot-Marie-Tooth disease [DS:H00264]
K24317	Autosomal recessive peripheral neuropathy (PNRIID) [DS:H02345]
K24319	Van den Ende-Gupta syndrome [DS:H01886]
K24335	Atrioventricular septal defect [DS:H00547]
K24354	Microphthalmia with limb anomalies [DS:H02134]
K24354	Dentin dysplasia [DS:H02348]
K24356	Congenital fibrosis of the extraocular muscles [DS:H00838]
K24359	Microphthalmia [DS:H01027]
K24359	Nanophthalmos [DS:H02172]
K24369	Wieacker-Wolff syndrome [DS:H02268]
K24370	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies [DS:H02376]
K24371	Primary microcephaly [DS:H00269]
K24372	Retinitis pigmentosa [DS:H00527]
K24372	Familial exudative vitreoretinopathy [DS:H00589]
K24373	Retinitis pigmentosa [DS:H00527]
K24374	Myopia [DS:H02041]
K24375	Paget disease of bone [DS:H00437]
K24376	X-linked mental retardation [DS:H00480]
K24377	Seborrhea-like dermatitis with psoriasiform element [DS:H00795]
K24397	Schizophrenia [DS:H01649]
K24398	Amelogenesis imperfecta [DS:H00615]
K24399	Oculocutaneous albinism [DS:H00168]
K24403	Dyslexia [DS:H01899]
K24418	Autosomal recessive mental retardation [DS:H00768]
K24419	Williams-Beuren syndrome [DS:H01439]
K24425	Autosomal recessive congenital ichthyosis [DS:H00734]
K24426	Myofibrillar myopathies [DS:H00595]
K24430	Geleophysic dysplasia [DS:H00900]
K24437	Deafness, autosomal recessive [DS:H00605]
K24437	Ectodermal dysplasia [DS:H02456]
K24445	Bleeding disorder platelet-type [DS:H01235]
K24455	Ataxia with isolated vitamin E deficiency (AVED) [DS:H00981]
K24456	Myofibrillar myopathies [DS:H00595]
K24466	Essential tremor [DS:H01577]
K24473	Microphthalmia [DS:H01027]
K24473	Essential tremor [DS:H01577]
K24481	Cold-induced sweating syndrome [DS:H00935]
K24491	Congenital stationary night blindness [DS:H00787]
K24496	Nephrotic syndrome [DS:H01657]
K24501	Diffuse large B-cell lymphoma, not otherwise specified [DS:H02434]
K24502	Hypogonadotropic hypogonadism [DS:H00255]
K24503	Hepatic venoocclusive disease with immunodeficiency [DS:H01264]
K24509	Autosomal recessive spinocerebellar ataxias [DS:H01891]
K24517	Diaphanospondylodysostosis [DS:H01844]
K24520	Megalocornea [DS:H02104]
K24539	Familial adult myoclonic epilepsy [DS:H02213]
K24540	Primary dystonia [DS:H00831]
K24552	Autosomal dominant lamellar ichthyosis [DS:H02449]
K24553	Globozoospermia [DS:H01208]
K24553	Spermatogenic failure [DS:H01282]
K24554	Postaxial polydactyly [DS:H01852]
K24574	Spermatogenic failure [DS:H01282]
K24575	Trichothiodystrophy [DS:H00866]
K24577	Carey-Fineman-Ziter syndrome [DS:H01908]
K24594	Autosomal recessive mental retardation [DS:H00768]
K24609	Urofacial syndrome [DS:H00753]
K24611	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis [DS:H02383]
K24622	Autosomal recessive congenital ichthyosis [DS:H00734]
K24624	Combined oxidative phosphorylation deficiency [DS:H00891]
K24627	Primary ciliary dyskinesia [DS:H00564]
K24628	Kohlschutter-Tonz syndrome [DS:H02058]
K24629	Hereditary spastic paraplegia [DS:H00266]
K24636	Deafness, autosomal recessive [DS:H00605]
K24636	Deafness-infertility syndrome [DS:H02435]
K24651	Syndromic intellectual developmental disorder [DS:H02463]
K24652	Primary ciliary dyskinesia [DS:H00564]
K24653	Joubert syndrome [DS:H00530]
K24677	Postaxial polydactyly [DS:H01852]
K24678	Nivelon-Nivelon-Mabille syndrome [DS:H02479]
K24682	Autism [DS:H02111]
K24726	Mitochondrial complex I deficiency [DS:H00473]
K24727	Familial idiopathic basal ganglia calcification [DS:H01574]
K24753	Amelogenesis imperfecta [DS:H00615]
K24754	Galloway-Mowat syndrome [DS:H01722]
K24768	Cardiac-urogenital syndrome [DS:H02488]
K24768	Mild encephalopathy with reversible myelin vacuolization [DS:H02489]
K24769	Syndromic intellectual developmental disorder [DS:H02463]
K24788	Hereditary spastic paraplegia [DS:H00266]
K24788	Neurodevelopmental disorder with structural brain abnormalities [DS:H02470]
K24789	Recurrent hydatidiform moles [DS:H00289]
K24818	Deafness, autosomal recessive [DS:H00605]
K24822	Deafness, autosomal recessive [DS:H00605]
K24823	Oocyte maturation defect [DS:H01897]
K24826	Syndromic disorder with short stature [DS:H02481]
K24828	Leber congenital amaurosis [DS:H00837]
K24851	Syndromic neurodevelopmental disorder [DS:H02459]
K24852	Hyper-IgE syndrome [DS:H01968]
K24853	Weiss-Kruszka syndrome [DS:H02465]
K24864	Hereditary spastic paraplegia [DS:H00266]
K24865	Congenital dyserythropoietic anemias (CDAs) [DS:H00917]
K24869	Syndromic intellectual developmental disorder [DS:H02463]
K24870	Spinocerebellar ataxia (SCA) [DS:H00063]
K24886	Joubert syndrome [DS:H00530]
K24888	Jaberi-Elahi syndrome [DS:H02510]
K24889	Hamamy syndrome [DS:H02234]
K24908	FRA12A mental retardation [DS:H01306]
K24924	Congenital myasthenic syndrome [DS:H00770]
K24924	Fetal akinesia deformation sequence [DS:H00987]
K24932	Spermatogenic failure [DS:H01282]
K24939	Autosomal recessive spinocerebellar ataxias [DS:H01891]
K24964	Alkuraya-Kucinskas syndrome [DS:H02494]
K24973	Early infantile epileptic encephalopathy [DS:H00606]
K24977	Charcot-Marie-Tooth disease [DS:H00264]
K24996	X-linked mental retardation [DS:H00480]
K24997	Autosomal recessive spinocerebellar ataxias [DS:H01891]
K25004	Homocystinuria [DS:H00183]
K25004	Spina bifida [DS:H00262]
K25004	Down syndrome [DS:H01552]
K25004	Schizophrenia [DS:H01649]
K25029	Deafness, autosomal recessive [DS:H00605]
K25030	Deafness, autosomal recessive [DS:H00605]
K25048	Hypomyelinating leukodystrophy [DS:H00679]
K25076	Recurrent hydatidiform moles [DS:H00289]
K25094	Hereditary spherocytosis [DS:H00230]