#KO	Disease
K00001	{Alcoholism, susceptibility to} [MIM:103780]
K00008	Cataract, congenital
K00016	Exertional myoglobinuria due to deficiency of LDH-A; Lactate dehydrogenase-B deficiency
K00021	[Statins, attenuated cholesterol lowering by]
K00022	2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency [MIM:300438]; 3-hydroxyacyl-CoA dehydrogenase deficiency [MIM:231530]; Hyperinsulinemic hypoglycemia, familial, 4 [MIM:609975]
K00027	{Epilepsy, idopathic generalized, susceptibility to} [MIM:600669]
K00036	Favism; G6PD deficiency; Hemolytic anemia due to G6PD deficiency
K00044	Pseudohermaphroditism, male, with gynecomastia [MIM:264300]
K00049	Hyperoxaluria, primary, type II [MIM:260000]
K00058	Phosphoglycerate dehydrogenase deficiency [MIM:601815]
K00061	Fundus albipunctatus [MIM:136880]
K00071	Apparent mineralocorticoid excess, hypertension due to; Hypertension, mild low-renin; Cortisone reductase deficiency [MIM:604931]
K00072	Sepiapterin reductase deficiency
K00088	Retinitis pigmentosa-10; Retinitis pigmentosa-10 [MIM:180105]
K00100	Leber congenital amaurosis, type III [MIM:604232]
K00106	Xanthinuria, type I [MIM:278300]
K00109	L-2-hydroxyglutaric aciduria [MIM:236792]
K00111	{Diabetes mellitus, noninsulin-dependent} [MIM:125853]
K00128	Alcohol intolerance, acute; {?Fetal alcohol syndrome}
K00139	Succinic semialdehyde dehydrogenase deficiency
K00140	Methylmalonate semialdehyde dehydrogenase deficiency
K00161	Leigh syndrome, X-linked [MIM:308930]; Pyruvate dehydrogenase deficiency [MIM:312170]
K00162	Pyruvate dehydrogenase E1-beta deficiency
K00164	Alpha-ketoglutarate dehydrogenase deficiency
K00166	Maple syrup urine disease, type Ia [MIM:248600]
K00167	Maple syrup urine disease, type Ib
K00207	Thymine-uraciluria; {Fluorouracil toxicity, sensitivity to}
K00212	Obesity, hyperphagia, and developmental delay
K00213	Smith-Lemli-Opitz syndrome [MIM:270400]
K00219	DECR deficiency
K00224	Desmosterolosis [MIM:602398]
K00227	Lathosterolosis [MIM:607330]
K00228	Coproporphyria; Harderoporphyrinuria
K00231	Porphyria variegata [MIM:176200]
K00232	Peroxisomal acyl-CoA oxidase deficiency [MIM:264470]
K00234	Leigh syndrome [MIM:256000]; Mitochondrial respiratory chain complex II deficiency [MIM:252011]
K00235	Paraganglioma, familial chromaffin, 4 [MIM:115310]; Pheochromocytoma [MIM:171300]
K00236	Paragangliomas, familial nonchromaffin, 3 [MIM:605373]
K00237	Carcinoid tumors, intestinal [MIM:114900]; Merkel cell carcinoma, somatic; Paragangliomas, familial nonchromaffin, 1, with or without deafness [MIM:168000]; Pheochromocytoma [MIM:171300]
K00248	Acyl-CoA dehydrogenase, short-chain, deficiency of [MIM:201470]
K00249	Acyl-CoA dehydrogenase, medium chain, deficiency of [MIM:201450]
K00250	Pseudovaginal perineoscrotal hypospadias [MIM:264600]
K00252	Glutaricaciduria, type I [MIM:231670]
K00253	Isovaleric acidemia [MIM:243500]
K00255	Acyl-CoA dehydrogenase, long chain, deficiency of [MIM:201460]
K00257	2-methylbutyrylglycinuria; VLCAD deficiency [MIM:201475]
K00261	Hyperinsulinism-hyperammonemia syndrome [MIM:606762]
K00273	{Schizophrenia} [MIM:181500]
K00274	Brunner syndrome
K00277	Cutis laxa, recessive, type I [MIM:219100]
K00283	Glycine encephalopathy [MIM:605899]
K00287	Anemia, megaloblastic, due to DHFR deficiency
K00292	Hyperlysinemia [MIM:238700]; Saccharopinuria [MIM:268700]
K00294	Hyperprolinemia, type II [MIM:239510]
K00297	Homocystinuria due to MTHFR deficiency [MIM:236250]
K00309	Hyperprolinemia, type I [MIM:239500]; {Schizophrenia, susceptibility to, 4} 600850
K00311	Glutaricaciduria, type IIC [MIM:231680]
K00312	Tetra-amelia, autosomal recessive [MIM:273395]
K00314	[Sarcosinemia] [MIM:268900]
K00315	Dimethylglycine dehydrogenase deficiency [MIM:605850]
K00326	Methemoglobinemia, type I; Methemoglobinemia, type II
K00327	Adrenal hyperplasia, congenital, due to combined P450C17 and P450C21 deficiency [MIM:201750]; Antley-Bixler syndrome-like with disordered steroidogenesis [MIM:201750]; Disordered steroidogenesis, isolated [MIM:201750]; POR deficiency [MIM:201750]
K00355	{Benzene toxicity, susceptibility to}; {Leukemia, post-chemotherapy, susceptibility to}
K00357	Phenylketonuria due to dihydropteridine reductase deficiency
K00382	Leigh syndrome [MIM:256000]; Maple syrup urine disease, type III [MIM:248600]
K00383	Hemolytic anemia due to glutathione reductase deficiency
K00387	Sulfite oxidase deficiency [MIM:272300]
K00408	Rokitansky-Kuster-Hauser syndrome [MIM:277000]
K00417	Mitochondrial complex III deficiency [MIM:124000]
K00430	Eosinophil peroxidase deficiency [MIM:261500]; Myeloperoxidase deficiency [MIM:254600]; {Alzheimer disease, susceptibility to} [MIM:104300]
K00431	Goiter, congenital; Hyperthyroidism, congenital; Thyroid hormone organification defect IIA [MIM:274500]; Total iodide organification defect [MIM:274500]
K00432	Hemolytic anemia due to glutathione peroxidase deficiency
K00451	Alkaptonuria [MIM:203500]
K00457	Hawkinsinuria [MIM:140350]; Tyrosinemia, type III [MIM:276710]
K00461	Bronchial asthma; {Asthma, dimished response to antileukotriene treatment in} [MIM:600807]; {Atherosclerosis, susceptibility to}
K00465	Ichthyosiform erythroderma, congenital, nonbullous, 1 [MIM:242100]
K00473	Bruck syndrome 2 [MIM:609220]; Ehlers-Danlos syndrome, type VI [MIM:225400]; Nevo syndrome [MIM:601451]
K00477	Refsum disease [MIM:266500]
K00485	[Fish-odor syndrome] [MIM:602079]
K00488	Cerebrotendinous xanthomatosis [MIM:213700]
K00491	Preeclampsia/eclampsia 1; {Alzheimer disease, late-onset, susceptibility to} [MIM:104300]; {Coronary spasms, susceptibility to}; {Hypertension, pregnancy-induced} [MIM:189800]; {Hypertension, susceptibility to} [MIM:145500]; {Placental abruption}; {Hypertension, susceptibility to} [MIM:145500]; {Malaria, resistance to} [MIM:248310]; {Malaria, intensity of infection}; {Pyloric stenosis, infantile hypertrophic, susceptibility to} [MIM:179010]
K00497	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency; Aldosteronism, glucocorticoid-remediable [MIM:103900]; Aldosterone to renin ratio raised; Hypoaldosteronism, congenital, due to CMO I deficiency [MIM:203400]; Hypoaldosteronism, congenital, due to CMO II deficiency; {Low renin hypertension, susceptibility to}
K00498	Lipoid congenital adrenal hyperplasia [MIM:201710]; Polycystic ovary syndrome [MIM:184700]
K00500	Phenylketonuria; [Hyperphenylalaninemia, mild]
K00501	Segawa syndrome, recessive
K00502	{Unipolar depression, susceptibility to} [MIM:608516]
K00503	Dopamine beta-hydroxylase deficiency [MIM:223360]; Parkinson disease, resistance to [MIM:168600]; [Dopamine-beta-hydroxylase activity levels, plasma]
K00505	Albinism, oculocutaneous, type IA [MIM:203100]; Albinism, oculocutaneous, type IB [MIM:606952]; Waardenburg syndrome/albinism, digenic [MIM:103470]
K00506	Albinism, brown [MIM:203290]; Albinism, rufous [MIM:278400]
K00510	Heme oxygenase-1 deficiency
K00512	17,20-lyase deficiency, isolated [MIM:202110]; 17-alpha-hydroxylase/17,20-lyase deficiency [MIM:202110]
K00513	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency; Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency
K00518	[Superoxide dismutase, elevated extracellular]
K00522	Cerebellar ataxia [MIM:604290]; Hemosiderosis, systemic, due to aceruloplasminemia [MIM:604290]; [Hypoceruloplasminemia, hereditary] [MIM:604290]; Iron overload, autosomal dominant
K00541	Homocysteine plasma level
K00542	GAMT deficiency
K00545	Panic disorder syndrome 1; {Panic disorder, susceptibility to} [MIM:167870]; {Schizophrenia, susceptibility to} [MIM:181500]
K00546	Bronchial asthma; {Asthma, susceptibility to} [MIM:600807]
K00548	Down syndrome; Methylcobalamin deficiency, cblG type [MIM:250940]; {Down syndrome, risk of} [MIM:190685]; {Spina bifida, risk of} [MIM:601634, 182940]
K00552	Glycine N-methyltransferase deficiency [MIM:606664]
K00553	Hypertension, essential [MIM:145500]
K00558	Immunodeficiency-centromeric instability-facial anomalies syndrome [MIM:242860]
K00569	6-mercaptopurine sensitivity
K00597	Homocystinuria-megaloblastic anemia, cbl E type [MIM:236270]; {Spina bifida, risk of} [MIM:601634, 182940]
K00605	Glycine encephalopathy [MIM:605899]
K00611	Ornithine transcarbamylase deficiency [MIM:311250]
K00613	AGAT deficiency
K00615	{?Wernicke-Korsakoff syndrome, susceptibility to}; {Wernicke-Korsakoff syndrome, susceptibility to} [MIM:277730]
K00616	Transaldolase deficiency [MIM:606003]
K00618	N-acetylglutamate synthase deficiency [MIM:237310]
K00622	[Slow acetylation]
K00623	Myasthenic syndrome, congenital, associated with episodic apnea [MIM:254210]
K00624	Carnitine acetyltransferase deficiency
K00626	ACAT2 deficiency; Alpha-methylacetoacetic aciduria [MIM:203750]
K00627	Lacticacidemia due to PDX1 deficiency [MIM:245349]
K00636	CPT II deficiency, lethal neonatal [MIM:608836]; CPT deficiency, hepatic, type II [MIM:600649]; Myopathy due to CPT II deficiency [MIM:255110]; CPT deficiency, hepatic, type IA [MIM:255120]
K00643	Anemia, sideroblastic/hypochromic
K00649	Chondrodysplasia punctata, rhizomelic, type 2 [MIM:222765]
K00650	Fish-eye disease [MIM:136120]; Norum disease [MIM:245900]
K00654	Neuropathy, hereditary sensory and autonomic, type 1 [MIM:162400]
K00655	Lipodystrophy, congenital generalized, type 1 [MIM:608594]
K00657	Keratosis follicularis spinulosa decalvans [MIM:308800]
K00669	{Delayed sleep phase syndrome, susceptibility to}
K00678	Retinal dystrophy, early-onset severe
K00680	Maple syrup urine disease, type II; Roberts syndrome [MIM:268300]; SC phocomelia syndrome [MIM:269000]
K00681	Glutathioninuria; [Gamma-glutamyltransferase, familial high serum]
K00688	Glycogen storage disease VI; McArdle disease [MIM:232600]
K00693	Glycogen storage disease, type 0 [MIM:240600]; {Diabetes mellitus, noninsulin-dependent}
K00700	Glycogen storage disease IV [MIM:232500]
K00709	[Blood group, ABO system]
K00716	[Blood group, Lewis]
K00718	[Bombay phenotype]; [Bombay phenotype]; {Norwalk virus infection, resistance to}
K00719	[Blood group, P system] [MIM:111400]; {Urinary tract infection, susceptibility to}
K00721	Congenital disorder of glycosylation, type Ie [MIM:608799]
K00728	Muscular dystrophy, limb-girdle, type 2K [MIM:609308]; Walker-Warburg syndrome [MIM:236670]; Walker-Warburg syndrome [MIM:236670]
K00733	Ehlers-Danlos syndrome, progeroid form [MIM:130070]
K00736	Carbohydrate-deficient glycoprotein syndrome, type II [MIM:212066]
K00742	Adult i phenotype with congenital cataract [MIM:110800]; Adult i phenotype without cataract [MIM:110800]; [Blood group, Ii] [MIM:110800]
K00758	Mitochondrial neurogastrointestinal encephalomyopathy syndrome [MIM:603041]
K00759	Urolithiasis, 2,8-dihydroxyadenine
K00760	HPRT-related gout [MIM:300323]; Lesch-Nyhan syndrome [MIM:300322,]
K00774	Xeroderma pigmentosum
K00784	{Prostate cancer, susceptibility to} [MIM:176807]
K00786	Muscular dystrophy, congenital, type 1D [MIM:608840]
K00789	Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency; Methionine adenosyltransferase deficiency, autosomal recessive
K00798	Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type [MIM:251110]
K00802	Mental retardation, X-linked, Snyder-Robinson type [MIM:309583]
K00803	Rhizomelic chondrodysplasia punctata, type 3 [MIM:600121]
K00807	Leukotriene C4 synthase deficiency
K00815	Tyrosinemia, type II
K00819	Gyrate atrophy of choroid and retina with ornithinemia, B6 responsive or unresponsive
K00826	Hyperleucinemia-isoleucinemia or hypervalinemia; Hypervalinemia or hyperleucine-isoleucinemia
K00830	Hyperoxaluria, primary, type 1 [MIM:259900]
K00844	Hemolytic anemia due to hexokinase deficiency
K00845	Diabetes mellitus, neonatal-onset [MIM:606176]; Hyperinsulinism, familial [MIM:602485]; MODY, type II [MIM:125851]
K00846	[Fructosuria]
K00849	Galactokinase deficiency with cataracts [MIM:230200]
K00850	Glycogen storage disease VII; Hemolytic anemia due to phosphofructokinase deficiency
K00857	Mitochondrial DNA depletion myopathy [MIM:251880]
K00864	Glycerol kinase deficiency [MIM:307030]
K00867	HARP syndrome [MIM:607236]; Neurodegeneration, pantothenate kinase-associated [MIM:234200]
K00869	Hyper-IgD syndrome [MIM:260920]; Mevalonicaciduria
K00871	Glycogenosis, hepatic, autosomal
K00873	Pyruvate kinase deficiency [MIM:266200]
K00889	Corneal fleck dystrophy [MIM:121850]
K00904	Mitochondrial DNA-depletion syndrome, hepatocerebral form [MIM:251880]
K00907	Cardiomyopathy, dilated, 1G [MIM:604145]; Cardiomyopathy, familial hypertrophic, 9; Muscular dystrophy, limb-girdle, type 2J [MIM:608807]; Myopathy, proximal, with early respiratory muscle involvment [MIM:603689]; Tibial muscular dystrophy, tardive [MIM:600334]; Cardiomyopathy, hypertrophic, midventricular, digenic [MIM:192600]
K00909	Oguchi disease-2 [MIM:258100]
K00922	Breast cancer [MIM:114480]; Colorectal cancer [MIM:114500]; Ovarian cancer [MIM:604370]
K00927	Hemolytic anemia due to PGK deficiency; Myoglobinuria/hemolysis due to PGK deficiency
K00931	Hyperammonemia with hypoornithinemia, hypocitrullinemia, hypoargininemia, and hypoprolinemia
K00939	Hemolytic anemia due to adenylate kinase deficiency
K00940	Neuroblastoma [MIM:256700]
K00948	Phosphoribosyl pyrophosphate synthetase-related gout
K00955	SEMD, Pakistani type
K00965	Galactosemia [MIM:230400]
K00992	{Aplastic anemia, susceptibility to} [MIM:609135]; {Diabetes mellitus, insulin-dependent-1}; {Diabetes mellitus, type 1, susceptibility to} [MIM:222100]; {Viral infection, susceptibility to}
K01001	Congenital disorder of glycosylation, type Ij [MIM:608093]
K01020	Spondyloepiphyseal dysplasia, Omani type [MIM:608637]
K01029	Ketoacidosis due to SCOT deficiency
K01043	Muscle-eye-brain disease [MIM:253280]; Muscular dystrophy, congenital, 1C [MIM:606612]; Muscular dystrophy, limb-girdle, type 2I [MIM:607155]; Walker-Warburg syndrome [MIM:236670]
K01044	Monocyte carboxylesterase deficiency
K01046	Hepatic lipase deficiency; Pancreatic lipase deficiency
K01049	[Blood group, Yt system] [MIM:112100]
K01050	Apnea, postanesthetic
K01052	Cholesteryl ester storage disease; Wolman disease; Diabetes and pancreatic exocrine dysfunction [MIM:609812]
K01057	Cortisone reductase deficiency [MIM:604931]
K01062	Lissencephaly-1 [MIM:607432]; Subcortical laminar heterotopia
K01068	Hypercholanemia, familial [MIM:607748]
K01069	[Glyoxalase II deficiency]
K01072	Cylindromatosis, familial [MIM:132700]
K01074	Ceroid lipofuscinosis, neuronal, variant juvenile type, with granular osmiophilic deposits; Ceroid lipofuscinosis, neuronal-1, infantile [MIM:256730]
K01077	Hypophosphatasia, childhood [MIM:241510]; Hypophosphatasia, infantile [MIM:241500]; Odontohypophosphatasia [MIM:146300]
K01078	Lysosomal acid phosphatase deficiency
K01079	Phosphoserine phosphatase deficiency
K01081	Anemia, hemolytic, due to UMPH1 deficiency [MIM:266120]
K01084	Glycogen storage disease I
K01099	Dent syndrome [MIM:300009]; Lowe syndrome [MIM:309000]
K01110	Bannayan-Riley-Ruvalcaba syndrome [MIM:153480]; Bannayan-Zonana syndrome [MIM:153480]; Cowden disease [MIM:158350]; Endometrial carcinoma; Lhermitte-Duclos syndrome; Meningioma [MIM:607174]; Oligodendroglioma [MIM:137800]; Proteus syndr; Thyroid carcinoma, follicular [MIM:188470]; VATER association with hydrocephalus [MIM:276950]; {Prostate cancer} [MIM:176807]
K01112	Charcot-Marie-Tooth disease, type 4B1 [MIM:601382]
K01113	Spinocerebellar ataxia, autosomal recessive with axonal neuropathy [MIM:607250]
K01117	Niemann-Pick disease, type A [MIM:257200]; Niemann-Pick disease, type B [MIM:607616]
K01130	Chondrodysplasia punctata, X-linked recessive [MIM:302950]
K01131	Ichthyosis, X-linked; Placental steroid sulfatase deficiency
K01132	Mucopolysaccharidosis IVA
K01134	Metachromatic leukodystrophy [MIM:250100]
K01135	Maroteaux-Lamy syndrome, several forms
K01136	Mucopolysaccharidosis II
K01137	Mucopolysaccharidosis type IIID [MIM:252940]
K01140	{Coronary artery disease, susceptibility to}; {Coronary artery disease, susceptibility to}; {Coronary artery spasm, susceptibility to}
K01150	{Systemic lupus erythematosus, susceptibility to} [MIM:152700]
K01165	Prostate cancer 1 [MIM:176807, 601518]
K01175	Xeroderma pigmentosum, group F [MIM:278760]; {Drug addiction, susceptibility to}
K01183	[Chitotriosidase deficiency]
K01185	Amyloidosis, renal [MIM:105200]
K01186	Sialidosis, type I [MIM:256550]; Sialidosis, type II [MIM:256550]
K01187	Glycogen storage disease II [MIM:232300]
K01190	GM1-gangliosidosis; Mucopolysaccharidosis IVB
K01191	Mannosidosis, alpha-, types I and II [MIM:248500]
K01192	Mannosidosis, beta [MIM:248510]
K01195	Mucopolysaccharidosis VII
K01196	Glycogen storage disease IIIa; Glycogen storage disease IIIb
K01197	Mucopolysaccharidosis type IX [MIM:601492]
K01201	Gaucher disease with cardiovascular calcification [MIM:231005]; Gaucher disease [MIM:230800]
K01202	Krabbe disease [MIM:245200]
K01203	Sucrase-isomaltase deficiency, congenital [MIM:222900]
K01204	Kanzaki disease [MIM:609242]; Schindler disease, type I [MIM:609241]; Schindler disease, type III [MIM:609241]
K01205	Sanfilippo syndrome, type B [MIM:252920]
K01206	Fucosidosis
K01207	GM2-gangliosidosis, several forms [MIM:272800]; Tay-Sachs disease [MIM:272800]; [Hex A pseudodeficiency] [MIM:272800]; Sandhoff disease, infantile, juvenile, and adult forms [MIM:268800]; Spinal muscular atrophy, juvenile
K01217	Mucopolysaccharidosis Ih [MIM:607014]; Mucopolysaccharidosis Ih/s [MIM:607015]; Mucopolysaccharidosis Is [MIM:607016]
K01228	Glucosidase I deficiency [MIM:606056]
K01229	Hypolactasia, adult type [MIM:223100]
K01251	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
K01253	Diphenylhydantoin toxicity; Fetal hydantoin syndrome; Hypercholanemia, familial [MIM:607748]; {Preeclampsia, susceptibility to} [MIM:189800]; {Hypercholesterolemia, familial, due to LDLR defect, modifier of} [MIM:143890]
K01262	{Angioedema induced by ACE inhibitors, susceptibility to}
K01271	Prolidase deficiency
K01275	Haim-Munk syndrome [MIM:245010]; Papillon-Lefevre syndrome [MIM:245000]; Periodontitis, juvenile [MIM:170650]; Periodontitis, juvenile
K01279	Ceroid-lipofuscinosis, neuronal 2, classic late infantile [MIM:204500]
K01283	Renal tubular dysgenesis [MIM:267430]; [Angiotensin I-converting enzyme, benign serum increase]; {Alzheimer disease, susceptibility to} [MIM:104300]; {Diabetic nephropathy, susceptibility to} [MIM:603933]; {Myocardial infarction, susceptibility to}; {SARS, progression of}
K01287	Galactosialidosis
K01292	Carboxypeptidase N deficiency [MIM:212070]
K01312	Pancreatitis, hereditary [MIM:167800]; Trypsinogen deficiency
K01313	Dysprothrombinemia; Hyperprothrombinemia; Hypoprothrombinemia
K01314	Factor X deficiency
K01315	Conjunctivitis, ligneous [MIM:217090]; Plasminogen Tochigi disease; Plasminogen deficiency, types I and II; Thrombophilia, dysplasminogenemic
K01316	Enterokinase deficiency [MIM:226200]
K01317	Male infertility due to acrosin deficiency
K01320	Factor VII deficiency; {Myocardial infarction, decreased susceptibility to}
K01321	Hemophilia B; Warfarin sensitivity
K01323	Factor XI deficiency, autosomal dominant; Factor XI deficiency, autosomal recessive
K01324	Fletcher factor deficiency; Prekallikrein deficiency
K01325	[Kallikrein, decreased urinary activity of]
K01327	Hematopoiesis, cyclic [MIM:162800]; Neutropenia, congenital [MIM:202700]
K01328	Factor XII deficiency
K01330	C1r/C1s deficiency, combined
K01331	C1r/C1s deficiency, combined; C1s deficiency, isolated
K01332	C2 deficiency
K01333	C3b inactivator deficiency
K01343	Plasminogen activator deficiency
K01344	Purpura fulminans, neonatal; Thrombophilia due to protein C deficiency
K01348	{Alzheimer disease, late-onset, susceptibility to} [MIM:104300]
K01359	Obestiy with impaired prohormone processing [MIM:600955]
K01371	Pycnodysostosis [MIM:265800]
K01372	{Alzheimer disease, susceptibility to} [MIM:104300]
K01380	Renal tubular dysgenesis [MIM:267430]; [Hyperproreninemia]
K01388	COPD, rate of decline of lung function in [MIM:606963]; Pulmonary disease, chronic obstructive, severe early-onset
K01389	Membranous glomerulonephritis, antenatal; [Neutral endopeptidase deficiency]
K01391	Ehlers-Danlos syndrome, type VIIC [MIM:225410]
K01394	{Coronary heart disease, susceptibility to}
K01398	Osteolysis, idiopathic, Saudi type [MIM:605156]; Winchester syndrome [MIM:277950]
K01415	Hirschsprung disease, cardiac defects, and autonomic dysfunction; {Hypertension, essential, susceptibility to} [MIM:145500]
K01417	Mandibuloacral dysplasia with type B lipodystrophy [MIM:608612]; Restrictive dermopathy, lethal [MIM:275210]
K01431	Beta-ureidopropionase deficiency
K01435	Biotinidase deficiency [MIM:253260]
K01436	Aminoacylase 1 deficiency [MIM:609924]
K01437	Canavan disease [MIM:271900]
K01441	Farber lipogranulomatosis
K01444	Aspartylglucosaminuria
K01464	Dihydropyrimidinuria
K01476	Argininemia [MIM:207800]
K01481	{Rheumatoid arthritis, susceptibility to} [MIM:180300]
K01488	Adenosine deaminase deficiency, partial [MIM:102700]; Severe combined immunodeficiency due to ADA deficiency [MIM:102700]
K01489	Immunodeficiency with hyper-IgM, type 2 [MIM:605258]
K01490	Myoadenylate deaminase deficiency; [AMP deaminase deficiency, erythrocytic]
K01492	AICA-ribosiduria due to ATIC deficiency [MIM:608688]
K01495	Dystonia, DOPA-responsive [MIM:128230]; Phenylketonuria, atypical, due to GCH1 deficiency [MIM:233910]
K01500	Dyschromatosis symmetrica hereditaria [MIM:127400]
K01513	Arterial calcification, generalized, of infancy [MIM:208000]; Ossification of posterior longitudinal ligament of spine [MIM:602475]; {Diabetes mellitus, non-insulin-dependent, susceptibility to} [MIM:125853]; {Obesity, susceptibility to} [MIM:601665]
K01519	[Inosine triphosphatase deficiency]
K01528	Charcot-Marie-Tooth disease, dominant intermediate 1; Charcot-Marie-Tooth disease, dominant intermediate B [MIM:606482]; Myopathy, centronuclear [MIM:160150]
K01533	Cutis laxa, neonatal; Menkes disease [MIM:309400]; Occipital horn syndrome [MIM:304150]; Wilson disease [MIM:277900]
K01537	Hailey-Hailey disease [MIM:169600]
K01538	Alternating hemiplegia of childhood [MIM:104290]; Migraine, familial hemiplegic, 2 [MIM:602481]; Dystonia-12 [MIM:128235]
K01555	Tyrosinemia, type I
K01565	Sanfilippo syndrome, type A [MIM:252900]
K01578	Malonyl-CoA decarboxylase deficiency [MIM:248360]
K01581	{Colonic adenoma recurrence, reduced risk of} [MIM:114500]
K01591	Oroticaciduria
K01593	Aromatic L-amino acid decarboxylase deficiency [MIM:608643]
K01596	Hypoglycemia due to PCK1 deficiency
K01599	Porphyria cutanea tarda; Porphyria, hepatoerythropoietic
K01623	Aldolase A deficiency; Fructose intolerance
K01640	HMG-CoA lyase deficiency
K01641	HMG-CoA synthase-2 deficiency [MIM:605911]
K01672	Renal tubular acidosis-osteopetrosis syndrome
K01679	Fumarase deficiency [MIM:606812]; Leiomyomatosis and renal cell cancer [MIM:605839]; Multiple cutaneous and uterine leiomyomata [MIM:150800]
K01689	Enolase deficiency; Enolase-beta deficiency
K01697	Homocystinuria, B6-responsive and nonresponsive types; Thrombosis, hyperhomocysteinemic
K01698	Porphyria, acute hepatic; {Lead poisoning, susceptibility to}
K01719	Porphyria, congenital erythropoietic [MIM:263700]
K01724	Hyperphenylalaninemia due to pterin-4a-carbinolamine dehydratase deficiency [MIM:264070]
K01737	Phenylketonuria due to PTS deficiency
K01745	[Histidinemia] [MIM:235800]
K01746	Glutamate formiminotransferase deficiency [MIM:229100]
K01749	Porphyria, acute intermittent [MIM:176000]; Porphyria, acute intermittent, nonerythroid variant [MIM:176000]
K01755	Argininosuccinic aciduria [MIM:207900]
K01756	Adenylosuccinase deficiency [MIM:103050]
K01758	Cystathioninuria [MIM:219500]; Homocysteine, total plasma, elevated
K01759	{Autism, susceptibility to, 4}; {Autism, susceptibility to} [MIM:209850]
K01768	{Hypercalciuria, absorptive, susceptibility to} [MIM:143870]
K01772	Protoporphyria, erythropoietic; Protoporphyria, erythropoietic, recessive, with liver failure
K01784	Galactose epimerase deficiency [MIM:230350]
K01791	Inclusion body myopathy, autosomal recessive [MIM:600737]; Nonaka myopathy [MIM:605820]; Sialuria [MIM:269921]
K01796	Alpha-methylacyl-CoA racemase deficiency
K01800	Tyrosinemia, type Ib
K01803	Hemolytic anemia due to triosephosphate isomerase deficiency
K01807	Ribose 5-phosphate isomerase deficiency [MIM:608611]
K01809	Carbohydrate-deficient glycoprotein syndrome, type Ib [MIM:602579]
K01810	Hemolytic anemia due to glucosephosphate isomerase deficiency; Hydrops fetalis, one form
K01822	3-beta-hydroxysteroid dehydrogenase, type II, deficiency
K01824	Chondrodysplasia punctata, X-linked dominant [MIM:302960]
K01831	Hypertension, essential [MIM:145500]
K01832	Thromboxane synthase deficiency
K01837	Hemolytic anemia due to bisphosphoglycerate mutase deficiency; Myopathy due to phosphoglycerate mutase deficiency
K01849	Methylmalonic aciduria, mut(0) type [MIM:251000]
K01855	Dyskeratosis congenita-1 [MIM:305000]; Hoyeraal-Hreidarsson syndrome [MIM:300240]
K01866	Charcot-Marie-Tooth disease, dominant intermediate C [MIM:608323]
K01880	Charcot-Marie-Tooth disease, type 2D [MIM:601472]; Spinal muscular atrophy, distal, type V [MIM:600794]
K01897	Mental retardation, X-linked nonspecific, 63 [MIM:300387]; Myelodysplastic syndrome; Myelogenous leukemia, acute
K01903	Mitochondrial DNA depletion syndrome [MIM:251880]
K01915	Glutamine deficiency, congenital [MIM:610015]
K01919	Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency [MIM:230450]; {Myocardial infarction, premature, susceptibility to}; {Myocardial infarction, susceptibility to} [MIM:608446]
K01920	Glutathione synthetase deficiency [MIM:266130]; Hemolytic anemia due to glutathione synthetase deficiency [MIM:231900]
K01932	Opitz G syndrome, type I [MIM:300000]
K01938	Spina bifida [MIM:601634]; {Neural tube defects, maternal risk of} [MIM:601634]
K01940	Citrullinemia [MIM:215700]
K01948	Carbamoylphosphate synthetase I deficiency [MIM:237300]
K01949	Holocarboxylase synthetase deficiency [MIM:253270]
K01951	Leukemia, acute myelogenous [MIM:601626]
K01960	Pyruvate carboxylase deficiency [MIM:266150]
K01961	Acetyl-CoA carboxylase deficiency
K01965	Propionicacidemia [MIM:606054]
K01966	Propionicacidemia [MIM:606054]
K01968	3-Methylcrotonyl-CoA carboxylase 1 deficiency [MIM:210200]
K01969	3-Methylcrotonyl-CoA carboxylase 2 deficiency [MIM:210210]
K01970	Vitamin K-dependent coagulation defect [MIM:277450]; {Graves disease, susceptibility to, 3} [MIM:275000]
K01971	DNA ligase I deficiency; LIG4 syndrome [MIM:606593]; {Multiple myeloma, resistance to} [MIM:254500]
K01988	[Blood group, P system] [MIM:111400]
K02085	Adenoma, periampullary; Adenomatous polyposis coli; Adenomatous polyposis coli, attenuated; Colorectal cancer; Desmoid disease, hereditary [MIM:135290]; Gardner syndrome; Gastric cancer [MIM:137215]; Turcot syndrome [MIM:276300]
K02089	Melanoma
K02105	Colorectal cancer; Hepatoblastoma; Hepatocellular carcinoma [MIM:114550]; Ovarian carcinoma, endometrioid type; Pilomatricoma [MIM:132600]
K02147	Renal tubular acidosis with deafness [MIM:267300]
K02154	Osteopetrosis, recessive [MIM:259700]; Renal tubular acidosis, distal, autosomal recessive [MIM:602722]
K02157	Hepatocellular carcinoma [MIM:114550]
K02159	Colorectal cancer; T-cell acute lymphoblastic leukemia
K02161	Leukemia/lymphoma, B-cell, 2
K02178	Colorectal cancer with chromosomal instability
K02257	Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due to cytochrome c oxidase deficiency
K02259	Cardiomyopathy, hypertrophic, early-onset fatal; Leigh syndrome due to cytochrome c oxidase deficiency [MIM:256000]
K02320	N syndrome [MIM:310465]
K02332	Alpers syndrome [MIM:203700]; Progressive external ophthalmoplegia with mitochondrial DNA deletions [MIM:157640]; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [MIM:607459]; Spinocerebellar ataxia with epilepsy [MIM:607459]
K02354	Exudative vitreoretinopathy [MIM:133780]
K02355	Combined oxidative phosphorylation deficiency [MIM:609060]
K02366	Chondrosarcoma [MIM:215300]; Exostoses, multiple, type 1 [MIM:133700]
K02367	Exostoses, multiple, type 2 [MIM:133701]
K02427	Mental retardation, X-linked-44 [MIM:300501]; Mental retardation, X-linked-9 [MIM:309549]
K02542	Hypolactasia, adult type [MIM:223100]; {Tall stature, susceptibility to}
K02582	Neuropathy, hereditary sensory and autonomic, type V [MIM:608654]
K02599	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy [MIM:125310]; Leukemia, T-cell acute lymphoblastic
K02633	Advanced sleep phase syndrome, familial [MIM:604348]
K02677	Pituitary tumor, invasive; Spinocerebellar ataxia 14 [MIM:605361]
K02833	Costello syndrome [MIM:218040]; {Bladder cancer, somatic} [MIM:109800]; {Thyroid carcinoma, follicular, somatic} [MIM:188470]
K02966	Anemia, Diamond-Blackfan [MIM:105650]
K02998	Arrhythmogenic right ventricular dysplasia-5 [MIM:604400]
K03068	Exudative vitreoretinopathy, dominant [MIM:133780]; Exudative vitreoretinopathy, recessive [MIM:601813]; Hyperostosis, endosteal [MIM:144750]; Osteopetrosis, autosomal dominant, type I [MIM:607634]; Osteoporosis-pseudoglioma syndrome [MIM:259770]; [Bone mineral density variability 1] [MIM:601884]; van Buchem disease, type 2 [MIM:607636]; {Osteoporosis} [MIM:166710]
K03099	Fibromatosis, gingival [MIM:135300]
K03103	Thyroid carcinoma, follicular [MIM:188470]
K03120	Huntington disease-like-4 [MIM:607136]; Parkinson disease [MIM:168600]; Spinocerebellar ataxia 17 [MIM:607136]
K03156	Bronchial asthma; {Asthma, susceptibility to} [MIM:600807]; {Dementia, vascular, susceptibility to}; {Malaria, cerebral, susceptibility to}; {Migraine without aura, susceptibility to} [MIM:157300]; {Septic shock, susceptibility to}; {Migraine with or without aura, susceptibility to}
K03158	Periodic fever, familial [MIM:142680]
K03160	Immunodeficiency with hyper-IgM, type 3 [MIM:606843]
K03161	Immunodeficiency, X-linked, with hyper-IgM [MIM:308230]
K03163	DNA topoisomerase I, camptothecin-resistant
K03164	DNA topoisomerase II, resistance to inhibition of, by amsacrine
K03176	Insensitivity to pain, congenital, with anhidrosis [MIM:256800]; Medullary thyroid carcinoma, familial [MIM:155240]
K03211	Leukemia, acute lymphoblastic
K03239	Leukoencephalopathy with vanishing white matter [MIM:603896]
K03240	Leukoencephalopathy with vanishing white matter [MIM:603896]; Ovarioleukodystrophy [MIM:603896]
K03241	Leukoencephalopathy with vanishing white matter [MIM:603896]
K03370	Amish infantile epilepsy syndrome [MIM:609056]
K03453	Bile acid malabsorption, primary
K03454	Carnitine-acylcarnitine translocase deficiency
K03456	Lung cancer [MIM:211980]
K03509	Xeroderma pigmentosum, variant type [MIM:278750]
K03521	Glutaricaciduria, type IIB [MIM:231680]
K03522	Glutaricaciduria, type IIA [MIM:231680]
K03575	Adenomas, multiple colorectal [MIM:608456]; Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas [MIM:132600]; Gastric cancer, somatic [MIM:137215]
K03648	Immunodeficiency with hyper IgM, type 4 [MIM:608106]
K03654	Bloom syndrome [MIM:210900]
K03660	Renal cell carcinoma, clear cell, somatic [MIM:144700]
K03680	Leukoencephaly with vanishing white matter [MIM:603896]; Ovarioleukodystrophy [MIM:603896]
K03750	Molybdenum cofactor deficiency, type C [MIM:252150]
K03754	Leukoencephalopathy with vanishing white matter [MIM:603896]; Ovarioleukodystrophy [MIM:603896]
K03781	Acatalasemia
K03783	Nucleoside phosphorylase deficiency, immunodeficiency due to
K03841	Fructose-bisphosphatase deficiency
K03842	Congenital disorder of glycosylation, type Ik [MIM:608540]
K03843	Congenital disorder of glycosylation, type Ii [MIM:607906]
K03845	Congenital disorder of glycosylation, type Id [MIM:601110]
K03846	Congenital disorder of glycosylation, type Il [MIM:608776]
K03847	Congenital disorder of glycosylation, type Ig [MIM:607143]
K03848	Congenital disorder of glycosylation, type Ic [MIM:603147]
K03849	Congenital disorder of glycosylation, type Ih [MIM:608104]
K03850	Long QT syndrome-2; {Long QT syndrome, acquired, susceptibility to}; {Acquired long QT syndrome, reduced susceptibility to} [MIM:152427]
K03853	{Diabetes mellitus, noninsulin-dependent} [MIM:601283]
K03857	Paroxysmal nocturnal hemoglobinuria
K03871	Hemangioblastoma, cerebellar, somatic; Pheochromocytoma [MIM:171300]; Polycythemia, benign familial [MIM:263400]; Renal cell carcinoma, somatic [MIM:144700]; von Hippel-Lindau syndrome [MIM:193300]
K03898	Fitzgerald factor deficiency; High-molecular-weight kininogen deficiency; [Kininogen deficiency]
K03899	Hemophilia A
K03900	von Willebrand disease
K03902	Hemorrhagic diathesis due to factor V deficiency; {Thromboembolism susceptibility due to factor V Leiden}; {Thrombophilia due to factor V Liverpool}
K03903	Afibrinogenemia, congenital [MIM:202400]; Amyloidosis, hereditary renal [MIM:105200]; Dysfibrinogenemia, alpha type, causing bleeding diathesis; Dysfibrinogenemia, alpha type, causing recurrent thrombosis
K03904	Afibrinogenemia, congenital [MIM:202400]; Dysfibrinogenemia, beta type; Thrombophilia, dysfibrinogenemic
K03905	Dysfibrinogenemia, gamma type; Hypofibrinogenemia, gamma type; Thrombophilia, dysfibrinogenemic
K03906	Factor XIIIB deficiency
K03907	Thrombophilia due to thrombomodulin defect; {Myocardial infarction, susceptibility to}
K03908	Protein S deficiency
K03910	Emphysema due to alpha-2-macroglobulin deficiency; {Alzheimer disease, susceptibility to} [MIM:104300]
K03911	Antithrombin III deficiency
K03912	Thrombophilia due to heparin cofactor II deficiency
K03913	Protein C inhibitor deficiency
K03917	Factor XIIIA deficiency
K03934	Mitochondrial complex I deficiency [MIM:252010]
K03935	Mitochondrial complex I deficiency [MIM:252010]
K03936	Leigh syndrome [MIM:256000]
K03937	Leigh syndrome [MIM:256000]; Mitochondrial complex I deficiency [MIM:252010]
K03939	Complex I, mitochondrial respiratory chain, deficiency of [MIM:252010]
K03940	Leigh syndrome [MIM:256000]
K03941	Leigh syndrome [MIM:256000]
K03942	Alexander disease [MIM:203450]; Leigh syndrome [MIM:256000]; Mitochondrial complex I deficiency [MIM:252010]
K03943	{Parkinson disease, susceptibility to} [MIM:168600]
K03982	Hemorrhagic diathesis due to PAI1 deficiency; Thrombophilia due to excessive plasminogen activator inhibitor
K03983	Plasmin inhibitor deficiency
K03984	Emphysema; Emphysema-cirrhosis; Hemorrhagic diathesis due to \`antithrombin\' Pittsburgh; {Pulmonary disease, chronic obstructive, susceptibility to} [MIM:606963]; Pulmonary disease, chronic obstructive, severe early-onset
K03986	C1q deficiency, type A
K03987	C1q deficiency, type B
K03988	C1q deficiency, type C
K03989	C4 deficiency; C4 deficiency; [Blood group, Rodgers]
K03990	C3 deficiency
K03991	{Chronic infections, due to opsonin defect}; {Meningococcal disease, susceptibility to}
K03993	MASP2 deficiency
K03994	C5 deficiency
K03995	C6 deficiency; Combined C6/C7 deficiency
K03996	C7 deficiency
K03997	C8 deficiency, type I
K03998	C8 deficiency, type II
K04000	C9 deficiency; C9 deficiency with dermatomyositis
K04001	Angioedema, hereditary [MIM:106100]
K04004	Factor H and factor H-like 1; Hemolytic-uremic syndrome [MIM:235400]; Nephropathy, chronic hypocomplementemic; {Macular degeneration, age-related, 1} [MIM:603075]
K04006	[Blood group Cromer]
K04007	{Measles, susceptibility to}
K04008	CD59 deficiency
K04011	CR1 deficiency; [Blood group, Knops system] [MIM:607486]; {?SLE susceptibility}
K04077	Spastic paraplegia-13 [MIM:605280]
K04140	{Congestive heart failure, susceptibility to}
K04141	[Resting heart rate] [MIM:607276]; {congestive heart failure, susceptibility to}
K04142	Beta-2-adrenoreceptor agonist, reduced response to; {Asthma, nocturnal, susceptibility to} [MIM:600807]; {Obesity, susceptibility to} [MIM:601665]; Bronchial asthma
K04143	{Obesity, susceptibility to} [MIM:601665]
K04145	Dystonia, myoclonic [MIM:159900]
K04146	{?Schizophrenia, susceptibility to}
K04147	Autonomic nervous system dysfunction; [Novelty seeking personality] [MIM:601696]
K04157	{Alcohol dependence, susceptibility to} [MIM:103780]; {Anorexia nervosa, susceptibility to} [MIM:606788]; {Obsessive-compulsive disorder, susceptibility to} [MIM:164230]; {Schizophrenia, susceptibility to} [MIM:181500]; {Seasonal affective disorder, susceptibility to} [MIM:608516]; {Anorexia nervosa, susceptibility to}
K04166	Hypertension, essential [MIM:145500]; Renal tubular dysgenesis [MIM:267430]
K04167	Mental retardation, X-linked-88
K04177	{HIV infection, susceptibility/resistance to}
K04180	{HIV infection, susceptibility/resistance to}
K04189	Myelokathexis, isolated; WHIM syndrome [MIM:193670]
K04192	{Rapid progression to AIDS from HIV1 infection}
K04197	Migraine, resistance to [MIM:157300]; {Migraine with or without aura, susceptibility to}
K04198	ABCD syndrome [MIM:600501]; Hirschsprung disease-2 [MIM:600155]; Waardenburg-Shah syndrome [MIM:277580]
K04199	Oculocutaneous albinism, type II, modifier of; [Red hair/fair skin]; {Analgesia from kappa-opioid receptor agonist, female-specific}; {UV-induced skin damage, vulnerability to}
K04200	Glucocorticoid deficiency, due to ACTH unresponsiveness [MIM:202200]
K04201	{Obesity, severe, susceptibility to} [MIM:601665]
K04202	Obesity, autosomal dominant [MIM:601665]
K04215	[Response to morphine-6-glucuronide]
K04221	Acromegaly [MIM:102200]
K04228	Diabetes insipidus, nephrogenic [MIM:304800]; Nephrogenic syndrome of inappropriate antidiuresis [MIM:300539]
K04247	Ovarian dysgenesis 1 [MIM:233300]; Ovarian hyperstimulation syndrome, gestational [MIM:608115]; Ovarian sex cord tumors; Twinning, dizygotic [MIM:276400]
K04248	Hypogonadotropic hypogonadism; Leydig cell adenoma, with precocious puberty; Micropenis; Precocious puberty, male [MIM:176410]; Pseudohermaphroditism, male, with Leydig cell hypoplasia
K04249	Hyperthroidism, familial gestational [MIM:603373]; Hyperthyroidism, nonautoimmune [MIM:609152]; Hypothyroidism, congenital, nongoitrous, 1 275200; Thyroid adenoma, hyperfunctioning, somatic; Thyroid carcinoma with thyrotoxicosis
K04250	Night blindness, congenital stationery, rhodopsin-related; Retinitis pigmentosa, autosomal recessive; Retinitis pigmentosa-4, autosomal dominant
K04251	Blue-cone monochromacy [MIM:303700]; Colorblindness, deutan; Blue-cone monochromacy [MIM:303700]; Colorblindness, protan
K04252	Colorblindness, tritan
K04254	Retinitis pigmentosa, autosomal dominant; Retinitis pigmentosa, autosomal recessive
K04264	Bleeding disorder due to defective thromboxane A2 receptor
K04280	Fertile eunuch syndrome [MIM:228300]; Hypogonadotropic hypogonadism
K04282	Thyrotropin-releasing hormone resistance, generalized
K04298	Bleeding disorder due to P2RY12 defect [MIM:609821]
K04307	Cryptorchidism, bilateral [MIM:219050]
K04332	{Asthma, susceptibility to, 1} [MIM:607277]
K04344	Cerebellar ataxia, pure; Episodic ataxia, type 2 [MIM:108500]; Hemiplegic migraine, familial [MIM:141500]; Spinocerebellar ataxia-6 [MIM:183086]
K04352	Basal cell carcinoma, somatic; Capillary malformation-arteriovenous malformation [MIM:608354]; Parkes Weber syndrome [MIM:608355]
K04354	Spinocerebellar ataxia 12 [MIM:604326]
K04355	Central hypoventilation syndrome, congenital [MIM:209880]; {Memory impairment, susceptibility to}; {Obsessive-compulsive disorder, protection against} [MIM:164230]
K04359	Dermatofibrosarcoma protuberans; Giant-cell fibroblastoma; Meningioma, SIS-related
K04360	Obesity, hyperphagia, and developmental delay
K04361	Adenocarcinoma of lung, response to tyrosine kinase inhibitor in [MIM:211980]; Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in [MIM:211980]; {Nonsmall cell lung cancer, susceptibility to} [MIM:211980]
K04362	Jackson-Weiss syndrome [MIM:123150]; Kallmann syndrome 2 [MIM:147950]; Pfeiffer syndrome [MIM:101600]
K04363	Gastrointestinal stromal tumor, somatic [MIM:606764]; Hypereosinophilic syndrome, idiopathic, resistant to imatinib [MIM:607685]
K04365	Adenocarcinoma of lung, somatic [MIM:211980]; Cardiofaciocutaneous syndrome [MIM:115150]; Colorectal cancer, somatic; Melanoma, melignant, somatic; Nonsmall cell lung cancer, somatic
K04373	Coffin-Lowry syndrome [MIM:303600]; Mental retardation, X-linked nonspecific, type 19
K04377	Burkitt lymphoma [MIM:113970]
K04380	Dementia, Pick disease-like [MIM:172700]; Dementia, frontotemporal, with parkinsonism [MIM:600274]; Pallidopontonigral degeneration [MIM:168610]; Supranuclear palsy, progressive atypical [MIM:260540]; Supranuclear palsy, progressive [MIM:601104]; Tauopathy and respiratory failure; {Parkinson disease, late-onset} [MIM:168600]; Parkinsonism-dementia with pallidopontonigral degeneration
K04384	Arrhythmogenic right ventricular dysplasia 1 [MIM:107970]; Camurati-Engelmann disease [MIM:131300]; Cystic fibrosis lung disease, modifier of [MIM:219700]
K04385	Colorectal cancer [MIM:114500]; Oligodontia-colorectal cancer syndrome [MIM:608615]
K04388	Aortic aneurysm, familial thoracic 3 [MIM:608967]; Colon cancer; Colorectal cancer, hereditary nonpolyposis, type 6; Esophageal cancer [MIM:133239]; Loeys-Dietz syndrome [MIM:609192]; Aortic aneurysm, familial throacic 3
K04389	{Systemic lupus erythematosus, susceptibility} [MIM:152700]
K04390	Autoimmune lymphoproliferative syndrome, type IA [MIM:601859]; Squamous cell carcinoma, burn scar-related, somatic; {Autoimmune lymphoproliferative syndrome} [MIM:601859]
K04398	Autoimmune lymphoproliferative syndrome, type IIB [MIM:607271]; Hepatocellular carcinoma, somatic [MIM:114550]
K04400	Autoimmune lymphoproliferative syndrome, type II [MIM:603909]; Gastric cancer, somatic [MIM:137215]; Non-Hodgkin lymphoma, somatic [MIM:605027]
K04415	Lung cancer, somatic [MIM:211980]
K04434	{Diabetes mellitus, noninsulin-dependent} [MIM:125853]
K04437	Atelostogenesis, type I [MIM:108720]; Larson syndrome [MIM:150250]; Spondylocarpotarsal synostosis syndrome [MIM:272460]; Frontometaphyseal dysplasia [MIM:304120]; Heterotopia, periventricular nodular, with frontometaphyseal dysplasia [MIM:300049]; Heterotopia, periventricular [MIM:300049]; Heterotopia, periventricular, ED variant [MIM:300537]; Melnick-Needles syndrome [MIM:309350]; Otopalatodigital syndrome, type I [MIM:311300]; Otopalatodigital syndrome, type II [MIM:304120]; Larsen syndrome, autosomal dominant; Otopalatodigital syndrome, type I; Otopalatodigital syndrome, type II [MIM:304120]
K04440	Epileptic encephalopathy, Lennox-Gastaut type [MIM:606369]
K04447	Myelofibrosis, idiopathic [MIM:254450]; Polycythemia vera [MIM:263300]; Thrombocythemia, essential [MIM:187950]; SCID, autosomal recessive, T-negative/B-positive type
K04451	Adrenal cortical carcinoma [MIM:202300]; Breast cancer [MIM:114480]; Colorectal cancer [MIM:114500]; Hepatocellular carcinoma [MIM:114550]; Histiocytoma; Li-Fraumeni syndrome [MIM:151623]; Multiple malignancy syndrome; Nasopharyngeal carcinoma [MIM:161550]; Osteosarcoma; Pancreatic cancer [MIM:260350]; Thyroid carcinoma
K04452	Myxoid liposarcoma
K04455	Charcot-Marie-Tooth disease, axonal, type 2F [MIM:606595]; Neuropathy, distal hereditary motor [MIM:608634]
K04456	Diabetes mellitus, type II [MIM:125853]; {Schizophrenia, susceptibility to} [MIM:181500]
K04462	3q21q26 syndrome
K04482	{Breast cancer, susceptibility to} [MIM:114480]
K04498	Colorectal cancer [MIM:114500]; Rubinstein-Taybi syndrome [MIM:180849]; Rubenstein-Taybi syndrome [MIM:180849]
K04501	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [MIM:175050]; Pancreatic cancer; Polyposis, juvenile intestinal [MIM:174900]
K04503	Centrocytic lymphoma; Leukemia/lymphoma, chronic B-cell [MIM:151400]; Multiple myeloma [MIM:254500]; Parathyroid adenomatosis 1; von Hippel-Lindau disease, modification of [MIM:193300]; {Colorectal cancer, susceptibility to}
K04505	Alzheimer disease, type 3 [MIM:607822]; Alzheimer disease, type 3, with spastic paraparesis and apraxia [MIM:607822]; Alzheimer disease, type 3, with spastic paraparesis and unusual plaques [MIM:607822]; Dementia, frontotemporal [MIM:600274]; Pick disease [MIM:172700]
K04519	{Gastric cancer risk after H. pylori infection} [MIM:137215]
K04520	Alzheimer disease-1, APP-related; Amyloidosis, cerebroarterial, Dutch type; Amyloidosis, cerebroarterial, Iowa type [MIM:605714]
K04522	Alzheimer disease-4 [MIM:606889]
K04524	Alzheimer disease-2 [MIM:104310]; Hyperlipoproteinemia, type III; Sea-blue histiocyte disease [MIM:269600]; {Myocardial infarction susceptibility}
K04525	Alpha-1-antichymotrypsin deficiency; Cerebrovascular disease, occlusive
K04526	Diabetes mellitus, rare form; Hyperproinsulinemia, familial; MODY, one form [MIM:125850]
K04527	Diabetes mellitus, insulin-resistant, with acanthosis nigricans; Hyperinsulinemic hypoglycemia, familial, 5 [MIM:609968]; Leprechaunism [MIM:246200]; Rabson-Mendenhall syndrome [MIM:262190]
K04528	Dementia, Lewy body [MIM:127750]; Parkinson disease 4, autosomal dominant Lewy body [MIM:605543]; Parkinson disease, familial [MIM:168601]
K04530	{Alzheimer disease, late-onset} [MIM:104300]
K04533	Huntington disease
K04556	Adenocarcinoma of lung, somatic [MIM:211980]; Adenocarcinoma, ovarian, somatic [MIM:604370]; Parkinson disease, juvenile, type 2 [MIM:600116]; {Leprosy, susceptibility to} [MIM:607572]; {Leprosy, susceptibility to}
K04558	Parkinson disease [MIM:168600]
K04559	{Prostate cancer, progression of} [MIM:176807]
K04565	Amyotrophic lateral sclerosis, due to SOD1 deficiency [MIM:105400]
K04572	Charcot-Marie-Tooth disease, type 1F [MIM:607734]; Charcot-Marie-Tooth disease, type 2E [MIM:607684]
K04574	{Amyotrophic lateral sclerosis, susceptibility to} [MIM:105400]
K04575	Amyotrophic lateral sclerosis, juvenile [MIM:205100]; Primary lateral sclerosis, juvenile [MIM:606353]; Spastic paralysis, infantile onset ascending [MIM:607225]
K04576	{Osteoporosis, postmenopausal, susceptibility} [MIM:166710]
K04583	{Diabetes mellitus, noninsulin-dependent} [MIM:125853]
K04584	Growth hormone deficient dwarfism
K04585	Enchondromatosis, Ollier type [MIM:166000]; Metaphyseal chondrodysplasia, Murk Jansen type [MIM:156400]
K04612	Hyperparathyroidism, neonatal [MIM:239200]; Hypocalcemia, autosomal dominant [MIM:146200]; Hypocalcemia, autosomal dominant, with Bartter syndrome; Hypocalciuric hypercalcemia, type I [MIM:145980]; Hypoparathyroidism, familial
K04616	{Nicotine dependence, susceptibility to} [MIM:188890]
K04630	Pituitary ACTH-secreting adenoma; Ventricular tachycardia, idiopathic [MIM:192605]
K04631	Achromatopsia-4; Night blindness, congenital stationary
K04632	Acromegaly [MIM:102200]; McCune-Albright syndrome [MIM:174800]; Osseous heteroplasia, progressive [MIM:166350]; Pituitary ACTH secreting adenoma; Prolonged bleeding time, brachydac; Pseudohypoparathyroidism, type Ia [MIM:103580]; Pseudohypoparathyroidism, type Ib [MIM:603233]; Somatotrophinoma
K04634	Bleeding diathesis due to GNAQ deficiency
K04648	Lower motor neuron disease, progressive, without sensory symptoms [MIM:607641]; {Amyotrophic lateral sclerosis, susceptibility to} [MIM:105400]
K04658	Stapes ankylosis syndrome without symphalangism [MIM:184460]; Symphalangism, proximal [MIM:185800]; Synostoses syndrome, multiple, 1 [MIM:186500]; Tarsal-carpal coalition syndrome [MIM:186570]
K04659	Epiphyseal dysplasia, multiple 1 [MIM:132400]; Pseudoachondroplasia [MIM:177170]
K04661	Polycystic ovary syndrome [MIM:184700]
K04664	Acromesomelic dysplasia, Hunter-Thompson type [MIM:201250]; Brachydactyly, type A2 [MIM:112600]; Brachydactyly, type C [MIM:113100]; Chondrodysplasia, Grebe type [MIM:200700]; Fibular hypoplasia and complex brachydactyly [MIM:228900]; Multiple synostoses syndrome type 1 [MIM:186500]; Symphalangism, proximal [MIM:185800]
K04665	Persistent Mullerian duct syndrome, type I [MIM:261550]
K04666	Situs ambiguus
K04668	Left-right axis malformations
K04670	Left-right axis malformations
K04671	Pulmonary hypertension, familial primary [MIM:178600]
K04672	Persistent Mullerian duct syndrome, type II [MIM:261550]
K04673	Brachydactyly, type A2 [MIM:112600]; Cowden-like syndrome [MIM:158350]; Polyposis, juvenile intestinal [MIM:174900]
K04674	Loeys-Dietz syndrome [MIM:609192]; Pancreatic cancer, somatic
K04675	Hereditary hemorrhagic telangiectasia-2 [MIM:600376]
K04686	Iridogoniodysgenesis syndrome-2 [MIM:137600]; Rieger syndrome [MIM:180500]; Ring dermoid of cornea [MIM:180550]
K04687	AIDS, rapid progression to [MIM:609423]; Aplastic anemia [MIM:609135]; Interferon, immune, deficiency; {TSC2 angiomyolipomas, renal, modifier of} [MIM:191100]; {Tuberculosis, susceptibility to} [MIM:607948]
K04692	Mycobacterial infection, atypical, familial disseminated [MIM:209950]; STAT1 deficiency, complete
K04708	Lymphoma/leukemia, B-cell, variant
K04722	Squamous cell carcinoma, head and neck [MIM:275355]
K04728	Ataxia-telangiectasia [MIM:208900]; Lymphoma, B-cell non-Hodgkin, somatic; Lymphoma, mantle cell; T-cell prolymphocytic leukemia, sporadic; {Breast cancer, susceptibility to} [MIM:114480]
K04733	IRAK4 deficiency [MIM:607676]
K04734	Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency
K04738	Pulmonary alveolar proteinosis [MIM:265120]
K04739	Adrenocortical tumor, somatic; Carney complex, type 1 [MIM:160980]; Myxoma, intracardiac [MIM:255960]; Pigmented adrenocortical disease, primary isolated [MIM:160980]; Thyroid carcinoma, papillary [MIM:188550]
K04803	Myasthenic syndrome, fast-channel congenital [MIM:608930]; Myasthenic syndrome, slow-channel congenital [MIM:601462]
K04805	Megacystis-microcolon-intestinal hypoperistalsis syndrome [MIM:249210]
K04806	Epilepsy, nocturnal frontal lobe, 1 [MIM:600513]; {Nicotine addiction, susceptibility to} [MIM:188890]
K04809	Schizophrenia, neurophysiologic defect in
K04812	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency [MIM:608931]; Myasthenic syndrome, slow-channel congenital [MIM:601462]
K04813	Epilepsy, nocturnal frontal lobe, 3 [MIM:605375]
K04816	Myasthenic syndrome, fast-channel congenital [MIM:608930]; Myasthenic syndrome, slow-channel congenital [MIM:601462]
K04817	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency [MIM:608931]; Myasthenic syndrome, fast-channel congenital [MIM:608930]; Myasthenic syndrome, slow-channel congenital [MIM:601462]
K04818	Myasthenia gravis, neonatal transient
K04824	Pseudohypoaldosteronism, type I [MIM:264350]
K04825	Liddle syndrome [MIM:177200]; Pseudohypoaldosteronism, type I [MIM:264350]
K04827	Liddle syndrome [MIM:177200]; Pseudohypoaldosteronism, type I [MIM:264350]
K04833	Convulsions, familial febrile, 3; Epilepsy, generalized, with febrile seizures plus, type 2 [MIM:604233]; Epilepsy, intractable childhood, with generalized tonic-clonic seiqures [MIM:607208]; Epilepsy, severe myoclonic, of infancy [MIM:607208]; Febrile convulsions, familial, 3 [MIM:604403]; Migraine, familial hemiplegic, 3 [MIM:609634]
K04837	Cramps, familial, potassium-aggravated; Hyperkalemic periodic paralysis [MIM:170500]; Hypokalemic periodic paralysis [MIM:170400]; Myasthenic syndrome; Myotonia congenita, atypical, acetazolamide-responsive [MIM:608390]; Paramyotonia congenita [MIM:168300]
K04838	Brugada syndrome [MIM:601144]; Cardiomyopathy, dilated, 1E [MIM:601154]; Heart block, nonprogressive [MIM:113900]; Heart block, progressive, type I [MIM:113900]; Long QT syndrome-3 [MIM:603830]; Sick sinus syndrome [MIM:608567]; Ventricular fibrillation, idiopathic [MIM:603829]
K04841	Erythermalgia, primary [MIM:133020]
K04845	Generalized epilepsy with febrile seizures plus [MIM:604233]
K04850	Timothy syndrome [MIM:601005]
K04853	Night blindness, congenital stationary, X-linked, type 2 [MIM:300071]
K04857	Hypokalemic periodic paralysis [MIM:170400]; {Malignant hyperthermia susceptibility 5} [MIM:601887]; {Thyrotoxic periodic paralysis, susceptibility to} [MIM:188580]
K04865	Epilepsy, generalized idiopathic [MIM:600669]; Epilepsy, juvenile myoclonic [MIM:606904]; Episodic ataxia, type 5
K04874	Episodic ataxia/myokymia syndrome [MIM:160120]
K04894	Jervell and Lange-Nielsen syndrome [MIM:220400]; Long QT syndrome-5
K04896	Atrial fibrillation, familial [MIM:607554]; Long QT syndrome-6
K04897	Hypokalemic periodic paralysis [MIM:170400]
K04905	Long QT syndrome-2; {Long QT syndrome, acquired, susceptibility to}
K04926	Atrial fibrillation, familial [MIM:607554]; Jervell and Lange-Nielsen syndrome [MIM:220400]; Long QT syndrome-1 [MIM:192500]
K04927	Epilepsy, benign, neonatal, type 1 [MIM:121200]; Myokymia with neonatal epilepsy [MIM:606437]
K04928	Epilepsy, benign neonatal, type 2 [MIM:121201]
K04929	Deafness, autosomal dominant 2; Deafness, autosomal dominant 2 [MIM:600101]
K04936	Generalized epilepsy and paroxysmal dyskinesia [MIM:609446]
K04937	{Hypertension, diastolic, resistance to} [MIM:608622]
K04948	Retinitis pigmentosa, autosomal recessive
K04950	Achromatopsia-2 [MIM:216900]
K04952	Retinitis pigmentosa, autosomal recessive [MIM:268000]
K04953	Achromatopsia-3 [MIM:262300]; Macular degeneration, juvenile [MIM:248200]
K04957	Sinus bradycardia syndrome [MIM:163800]
K04961	Central core disease [MIM:117000]; {Malignant hyperthermia susceptibility 1} [MIM:145600]
K04962	Arrhythmogenic right ventricular dysplasia 2 [MIM:600996]; Ventricular tachycardia, stress-induced polymorphic [MIM:604772]; Arrhythmogenic right ventricular dysplasia-2
K04969	Glomerulosclerosis, focal segmental, 2 [MIM:603965]
K04981	Hypomagnesemia with secondary hypocalcemia [MIM:602014]
K04985	Polycystic kidney disease, adult type I [MIM:173900]
K04986	Polycystic kidney disease, adult, type II
K04992	Mucolipidosis IV [MIM:252650]
K04995	Bartter syndrome, type 2 [MIM:241200]
K04996	Long QT syndrome-7 [MIM:170390]
K05001	Prinzmetal angina
K05004	Diabetes mellitus, permanent neonatal, with neurologic features [MIM:606176]; Diabetes, permanent neonatal [MIM:606176]; Persistent hyperinsulinemic hypoglycemia of infancy [MIM:256450]
K05010	Myotonia congenita, dominant [MIM:160800]; Myotonia congenita, recessive [MIM:255700]; Myotonia levior, recessive
K05011	Epilepsy with grand mal seizures on awakening [MIM:607628]; Epilepsy, childhood absence [MIM:607682]; Epilepsy, juvenile absence [MIM:607631]; Epilepsy, juvenile myoclonic [MIM:606904]
K05014	Dent disease [MIM:300009]; Hypophosphatemia, type III; Nephrolithiasis, type I [MIM:310468]; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis
K05016	Osteopetrosis, autosomal dominant, type II [MIM:166600]; Osteopetrosis, recessive [MIM:259700]
K05017	Bartter syndrome, type 4, digenic [MIM:602522]
K05018	Bartter syndrome, type 3 [MIM:607364]; Bartter syndrome, type 4, digenic [MIM:602522]
K05031	Congenital bilateral absence of vas deferens [MIM:277180]; Cystic fibrosis [MIM:219700]; Sweat chloride elevation without CF; {Hypertrypsinemia, neonatal}; {Pancreatitis, idiopathic}
K05032	Hyperinsulinism, congenital, autosomal dominant [MIM:602485]; Hyperinsulinism, congenital, autosomal recessive [MIM:256450]; Hypoglycemia of infancy, leucine-sensitive [MIM:240800]
K05033	Cardiomyopathy, dilated, 1O [MIM:608569]
K05035	Orthostatic intolerance [MIM:604715]
K05036	{Attention-deficit hyperactivity disorder, susceptibility to} [MIM:143465]
K05037	Anxiety-related personality traits [MIM:607834]; {Obsessive-compulsive disorder 1} [MIM:164230]
K05041	Creatine deficiency syndrome, X-linked [MIM:300352]
K05047	{Obesity, susceptibility to} [MIM:300306]
K05051	{Schizophrenia 5} [MIM:603175]; {Schizophrenia} [MIM:181500]
K05058	Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome [MIM:601559]
K05062	Obesity, morbid, with hypogonadism
K05063	{Mycobacterial and salmonella infections, susceptibility to} [MIM:209950]
K05066	Leukemia, acute myeloid, M2 type
K05068	Interleukin-2 receptor, alpha chain, deficiency of
K05070	Combined immunodeficiency, X-linked, moderate [MIM:312863]; Severe combined immunodeficiency, X-linked [MIM:300400]
K05071	Atopy; {AIDS, slow progression to} [MIM:609423]; {Atopy, susceptibility to} [MIM:147050]
K05072	Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type [MIM:600802]
K05075	Lymphoma, diffuse large B-cell
K05079	[Erythrocytosis, familial] [MIM:133100]
K05080	Laron dwarfism [MIM:262500]; Short stature, autosomal dominant, with normal serum growth hormone binding protein; Short stature, idiopathic
K05082	Thrombocytopenia, congenital amegakaryocytic [MIM:604498]; {Thrombycytosis, susceptibility to [MIM:187950]
K05083	Adenocarcinoma of lung, somatic [MIM:211980]; Gastric cancer, somatic [MIM:137215]; Glioblastoma, somatic [MIM:137800]; Ovarian cancer, somatic,
K05087	Intrauterine and postnatal growth retardation
K05089	Eosinophilic myeloproliferative disorder; Myelomonocytic leukemia, chronic; Myeloproliferative disorder with eosinophilia [MIM:131440]
K05090	Myeloid malignancy, predisposition to
K05091	Gastrointestinal stromal tumor, somatic [MIM:606764]; Germ cell tumors [MIM:273300]; Leukemia, acute myeloid [MIM:601626]; Mast cell leukemia; Mastocytosis with associated hematologic disorder; Piebaldism; Male germ cell tumor
K05092	Leukemia, acute lymphoblastic; Leukemia, acute myeloid [MIM:601626]; Leukemia, acute myeloid, reduced survival in
K05093	Apert syndrome [MIM:101200]; Beare-Stevenson cutis gyrata syndrome [MIM:123790]; Crouzon syndrome [MIM:123500]; Jackson-Weiss syndrome [MIM:123150]; Pfeiffer syndrome [MIM:101600]; Saethre-Chotzen syndrome [MIM:101400]
K05094	Achondroplasia [MIM:100800]; Bladder cancer [MIM:109800]; Cervical cancer, somatic [MIM:603956]; Colorectal cancer, somatic [MIM:109800]; Crouzon syndrome with acanthosis nigricans; Hypochondroplasia [MIM:146000]; Muenke syndrome [MIM:602849]; Thanatophoric dysplasia, types I and II [MIM:187600]
K05095	{Cancer progression/metastasis}
K05097	Hemangioma, capillary infantile; Hemangioma, capillary infantile, somatic [MIM:602089]; Lymphedema, hereditary I [MIM:153100]
K05098	Hemangioma, capillary infantile; Hemangioma, capillary infantile, somatic [MIM:602089]
K05099	Hepatocellular carcinoma, childhood type [MIM:114550]; Renal cell carcinoma, papillary, familial and sporadic [MIM:605074]
K05111	Prostate cancer, progression and metastasis of [MIM:176807]
K05117	Retinitis pigmentosa, MERTK-related [MIM:268000]
K05121	Venous malformations, multiple cutaneous and mucosal [MIM:600195]
K05123	Brachydactyly, type B1 [MIM:113000]; Robinow syndrome, autosomal recessive [MIM:268310]
K05126	Central hypoventilation syndrome, congenital [MIM:209880]; Colonic aganglionosis, total, with small bowel involvement; Hirschsprung disease [MIM:142623]; Medullary thyroid carcinoma [MIM:155240]; Multiple endocrine neoplasia IIA [MIM:171400]; Multiple endocrine neoplasia IIB [MIM:162300]; Pheochromocytoma [MIM:171300]
K05132	BCG infection, generalized familial [MIM:209950]; Mycobacterial infection, atypical, familial disseminated [MIM:209950]; {H. pylori infection, susceptibility to} [MIM:600263]; {Tuberculosis, susceptibility to} [MIM:607948]
K05133	{Mycobacterial infection, atypical, familial disseminated} [MIM:209950]
K05147	Osteolysis, familial expansile [MIM:174810]; Paget disease of bone [MIM:602080]
K05148	Paget disease, juvenile [MIM:239000]
K05150	Common variable immunodeficiency [MIM:240500]; Immunoglobulin A deficiency [MIM:609529]
K05162	Ectodermal dysplasia, hypohidrotic, autosomal dominant [MIM:129490]; Ectodermal dysplasia, hypohidrotic, autosomal recessive [MIM:224900]
K05170	Mental retardation, X-linked, 21/34 [MIM:300143]
K05175	Epilepsy, juvenile myoclonic [MIM:606904]
K05176	{Alcoholism, susceptibility to} [MIM:103780]
K05183	Insomnia
K05187	Epilepsy, childhood absence [MIM:607681]; Epilepsy, generalized, with febrile seizures plus [MIM:604233]; Myoclonic epilepsy, severe, of infancy [MIM:607208]
K05193	Hyperekplexia and spastic paraparesis; Startle disease, autosomal recessive; Startle disease/hyperekplexia, autosomal dominant [MIM:149400]
K05196	Hyperekplexia, autosomal recessive [MIM:149400]
K05215	Bleeding disorder due to P2RX1 defect
K05220	{Leukemia, chronic lymphatic, susceptibility to} [MIM:151400]
K05227	Central hypoventilation syndrome, congenital [MIM:209880]; Hirschsprung disease [MIM:142623]; Shah-Waardenburg syndrome [MIM:277580]
K05228	ACTH deficiency; Obesity, adrenal insufficiency, and red hair; [Abdominal body fat distribution, modifier of] [MIM:609830]
K05231	{Leanness, inherited}; {Obesity, late-onset} [MIM:601665]
K05242	Diabetes insipidus, neurohypophyseal [MIM:125700]
K05246	Narcolepsy [MIM:161400]
K05250	Follicle-stimulating hormone deficiency, isolated [MIM:229070]
K05251	Hypothyroidism, nongoitrous
K05252	Hypogonadotropic hypogonadism due to GNRH deficiency [MIM:227200]
K05253	Thyrotropin-releasing hormone deficiency
K05254	{Obesity, susceptibility to} [MIM:601665]
K05256	ACTH deficiency [MIM:201400]
K05259	[?Hyperproglucagonemia]
K05260	Gigantism due to GHRF hypersecretion; Isolated growth hormone deficiency due to defect in GHRF
K05261	Hypoparathyroidism, autosomal dominant; Hypoparathyroidism, autosomal recessive; Hypoparathyroidism, familial
K05302	Beckwith-Wiedemann syndrome [MIM:130650]; Leukemia, acute myeloid [MIM:601626]; Sotos syndrome [MIM:117550]; Weaver syndrome [MIM:277590]
K05334	Hartnup disorder [MIM:234500]
K05357	Vitamin K-dependent clotting factors, combined deficiency of, 2 [MIM:607473]; Warfarin resistance [MIM:122700]
K05398	{Leprosy, susceptibility to} [MIM:246300]
K05401	Endotoxin hyporesponsiveness; {Legionaire disease, susceptibility to} [MIM:608556]
K05405	Osteopenia/osteoporosis [MIM:166710]; {Kaposi sarcoma, susceptibility to} [MIM:148000]
K05414	Interferon, alpha, deficiency
K05424	Obesity, morbid, with hypogonadism; Obesity, severe, due to leptin deficiency
K05425	BCG and salmonella infection, disseminated [MIM:209950]; {Asthma, susceptibility to} [MIM:600807]; Bronchial asthma
K05429	Severe combined immunodeficiency due to IL2 deficiency
K05435	Bronchial asthma; {Allergic rhinitis, susceptibility to} [MIM:607154]; {Asthma, susceptibility to} [MIM:600807]
K05437	Erythremia
K05438	Isolated growth hormone deficiency, Illig type with absent GH and Kowarski type with bioinactive GH
K05443	{Graft-versus-host disease, protection against}; {HIV-1, susceptibility to}; {Rheumatoid arthritis, progression of} [MIM:180300]
K05448	{Diabetic retinopathy, NIDDM-related, susceptibility to} [MIM:125853]
K05452	Central hypoventilation syndrome [MIM:209880]; Hirschsprung disease [MIM:142623]; {Pheochromocytoma, modifier of} [MIM:171300]
K05455	{?Schizophrenia, susceptibility to} [MIM:603013]; {Schizophrenia} [MIM:181500]
K05459	Growth retardation with deafness and mental retardation due to IGF1 deficiency [MIM:608747]
K05463	Craniofrontonasal dysplasia; Craniofrontonasal dysplasia [MIM:304110]
K05468	{Myocardial infarction, susceptibility to}
K05469	{Myocardial infarction, premature, susceptibility to}; {Myocardial infarction, susceptibility to} [MIM:608446]
K05480	Ectodermal dysplasia-1, anhidrotic [MIM:305100]
K05481	{Gastric cancer risk after H. pylori infection} [MIM:137215]
K05497	Muscle hypertrophy
K05498	Ovarian dysgenesis 2 [MIM:300510]
K05514	{HIV-1 disease, delayed progression of}; {HIV-1 disease, rapid progression of}
K05547	Pituitary adenoma, nonfunctioning; Thyroid hormone resistance [MIM:188570]; Thyroid hormone resistance, autosomal recessive [MIM:274300]
K05607	3-methylglutaconic aciduria, type I [MIM:250950]
K05611	Parkinson disease, familial [MIM:168600]
K05612	Dicarboxylicaminoaciduria [MIM:222730]
K05614	Episodic ataxia, type 6
K05619	Ichthyosiform erythroderma, congenital [MIM:242100]; Ichthyosis, lamellar, autosomal recessive [MIM:242300]; Self-healing collodion baby [MIM:242300]
K05622	Peeling skin syndrome, acral type [MIM:609796]
K05626	Dentatorubro-pallidoluysian atrophy [MIM:125370]
K05634	Creutzfeldt-Jakob disease [MIM:123400]; Gerstmann-Straussler disease [MIM:137440]; Huntington disease-like 1 [MIM:603218]; Insomnia, fatal familial [MIM:600072]; Prion disease with protracted course [MIM:606688]
K05636	Cutis laxa, marfanoid neonatal type
K05640	Alexander disease [MIM:203450]
K05641	HDL deficiency, familial [MIM:604091]; Tangier disease [MIM:205400]; {Coronary artery disease in familial hypercholesterolemia, protection against} [MIM:143890]
K05643	Surfactant deficiency, neonatal [MIM:267450]
K05644	Cone-rod dystrophy 3 [MIM:604116]; Fundus flavimaculatus [MIM:248200]; Macular degeneration, age-related, 2 [MIM:153800]; Retinitis pigmentosa-19 [MIM:601718]; Stargardt disease-1 [MIM:248200]
K05646	Ichthyosis, harlequin [MIM:242500]; Ichthyosis, lamellar 2 [MIM:601277]
K05653	Bare lymphocyte syndrome, type I [MIM:604571]
K05654	Bare lymphocyte syndrome, type I, due to TAP2 deficiency [MIM:604571]; Wegener-like granulomatosis
K05658	Colchicine resistance
K05659	Cholestasis, familial intrahepatic, of pregnancy [MIM:147480]; Cholestasis, progressive familial intrahepatic 3 [MIM:602347]; Gallbladder disease 1 [MIM:600803]
K05662	Anemia, sideroblastic, with ataxia [MIM:301310]
K05664	Cholestasis, progressive familial intrahepatic 2 [MIM:601847]
K05666	Dubin-Johnson syndrome [MIM:237500]
K05669	Pseudoxanthoma elasticum, autosomal dominant [MIM:177850]; Pseudoxanthoma elasticum, autosomal recessive [MIM:264800]
K05675	Adrenoleukodystrophy [MIM:300100]; Adrenomyeloneuropathy [MIM:300100]
K05677	Zellweger syndrome-2
K05683	Sitosterolemia [MIM:210250]
K05684	Sitosterolemia [MIM:210250]
K05687	Amyotrophic lateral sclerosis-Parkinsonism/dementia complex 2; Parkinson disease 7, autosomal recessive early-onset [MIM:606324]
K05688	Parkinson disease, early onset [MIM:605909]
K05689	Breast cancer, lobular; Cleft lip with or without cleft palate, with gastric cancer, familial diffuse; Endometrial carcinoma; Gastric cancer, familial diffuse [MIM:137215]; Ovarian carcinoma; {Listeria monocytogenes, susceptibility to}
K05692	Cardiomyopathy, dilated, 1R; Cardiomyopathy, familial hypertrophic [MIM:192600]; Deafness, autosomal dominant 20/26 [MIM:604717]
K05696	[Abdominal body fat distribution, modifier of] [MIM:609830]; {Insulin resistance, susceptibility to}
K05698	Colon cancer, somatic [MIM:114500]
K05699	Glomerulosclerosis, focal segmental, 1 [MIM:603278]; [Alpha-actinin-3 deficiency]; [Elite sprint athletic performance]
K05704	Colon cancer, advanced
K05706	Melanoma metastasis, modification of; Waardenburg syndrome, type IID [MIM:608890]
K05717	Ehlers-Danlos syndrome, type X [MIM:225310]
K05720	Aarskog-Scott syndrome; Mental retardation, X-linked nonsyndromic
K05729	Mental retardation, X-linked nonspecific, type 46 [MIM:300436]
K05733	Mental retardation, X-linked 30 [MIM:300558]
K05739	Cardiomopathy, Familial hypertrophic, 8 [MIM:608751]
K05740	Deafness, autosomal dominant 1 [MIM:124900]
K05741	Premature ovarian failure [MIM:300511]
K05747	Neutropenia, severe congenital, X-linked [MIM:300299]; Thrombocytopenia, X-linked [MIM:313900]; Thrombocytopenia, X-linked, intermittent [MIM:313900]; Wiskott-Aldrich syndrome [MIM:301000]
K05761	Cholestasis, progressive canalicular
K05768	Amyloidosis, Finnish type [MIM:105120]
K05771	Cortisol resistance
K05840	Dystonia, primary cervical; {Attention deficit-hyperactivity disorder, susceptibility to} [MIM:143465]; {Blepharospasm, primary benign} [MIM:606798]
K05850	Deafness, autosomal recessive 12, modifier of [MIM:601386]
K05852	Cardiomyopathy, dilated, 1P [MIM:609909]
K05853	Acrokeratosis verruciformis [MIM:101900]; Darier disease [MIM:124200]; Brody myopathy [MIM:601003]
K05856	SCID due to LCK deficiency
K05858	Platelet PLC beta-2 deficiency
K05863	Progressive external ophthalmoplegia with mitochondrial DNA deletions [MIM:157640]
K05865	Cardiomyopathy, familial hypertrophic [MIM:192600]
K05948	Spondylocostal dysostosis, autosomal recessive 3 [MIM:609813]
K06030	Charcot-Marie-Tooth disease, type 2A2 [MIM:609260]
K06051	Spondylocostal dysostosis, autosomal recessive, 1 [MIM:277300]
K06052	Alagille syndrome [MIM:118450]; Deafness, congenital heart defects, and posterior embryotoxon; Tetralogy of Fallot [MIM:187500]
K06061	Mucoepidermoid salivary gland carcinoma
K06081	Cleft lip/palate ectodermal dysplasia syndrome [MIM:225000]; Ectodermal dysplasia, Margarita Island type [MIM:225060]; Zlotogora-Ogur syndrome [MIM:225000]
K06087	Hypomagnesemia, primary [MIM:248250]
K06098	Hypercholanemia, familial [MIM:607748]
K06107	Elliptocytosis-1
K06125	Coenzyme Q10 deficiency [MIM:607426]
K06173	Mitochondrial myopathy and sideroblastic anemia [MIM:600462]
K06224	Acrocapitofemoral dysplasia [MIM:607778]; Brachydactyly, type A1 [MIM:112500]; Coloboma, ocular [MIM:120200]; Holoprosencephaly-3 [MIM:142945]; Solitary median maxillary central incisor [MIM:147250]; Gonadal dysgenesis, 46XY, partial, with minifascicular neuropathy [MIM:607080]
K06225	Basal cell carcinoma, somatic [MIM:605462]; Basal cell nevus syndrome [MIM:109400]; Holoprosencephaly-7; Basal cell carcinoma, somatic [MIM:605462]; Medulloblastoma [MIM:155255]
K06226	Basal cell carcinoma, somatic
K06229	Medulloblastoma, desmoplastic [MIM:155255]
K06230	Acrocallosal syndrome [MIM:200990]; Greig cephalopolysyndactyly syndrome [MIM:175700]; Pallister-Hall syndrome [MIM:146510]; Polydactyly, postaxial, types A1 and B [MIM:174200]; Polydactyly, preaxial, type IV [MIM:174700]; Pituitary anomalies with holoprosencephaly-like features
K06235	Holoprosencephaly-5 [MIM:609637]
K06236	Achondrogenesis-hypochondrogenesis, type II [MIM:200610]; Kniest dysplasia [MIM:156550]; Osteoarthrosis [MIM:165720]; SMD [MIM:184252]; SMED Strudwick type [MIM:184250]; Stickler syndrome, type I [MIM:108300]; Wagner syndrome [MIM:143200]; Aneurysm, familial arterial; Ehlers-Danlos syndrome, type III [MIM:130020]; Ehlers-Danlos syndrome, type IV [MIM:130050]; Caffey disease [MIM:114000]; Ehlers-Danlos syndrome, type I [MIM:130000]; Ehlers-Danlos syndrome, type VII [MIM:130060]; Osteogenesis imperfecta, type I [MIM:166200]; Osteogenesis imperfecta, type II [MIM:166210]; Osteogenesis imperfecta, type III [MIM:259420]; Osteogenesis imperfecta, type IV [MIM:166220]; Osteoporosis [MIM:166710]; {Dissection of cervical arteries}; Ehlers-Danlos syndrome, type VIIA2 [MIM:130060]; Marfan syndrome, atypical; Osteogenesis imperfecta, 3 clinical forms [MIM:166200, 166210, 259420]; Osteoporosis, idiopathic [MIM:166710]; Erosive vitreoretinopathy; Wagner syndrome; {Osteoarthritis susceptibility, female-specific}
K06237	Alport syndrome, autosomal recessive [MIM:203780]; Hematuria, familial benign; Leiomyomatosis, diffuse, with Alport syndrome [MIM:308940]; Porencephaly [MIM:175780]
K06238	Bethlem myopathy [MIM:158810]; Ullrich congenital muscular dystrophy [MIM:254090]; Bethlem myopathy [MIM:158810]; Ullrich congenital muscular dystrophy [MIM:254090]; Bethlem myopathy [MIM:158810]; Ullrich congenital muscular dystrophy [MIM:254090]; {Ossification of the posterior longitudinal spinal ligaments} [MIM:602475]
K06239	Muscular dystrophy, congenital merosin-deficient [MIM:607855]; Muscular dystrophy, congenital, due to partial LAMA2 deficiency [MIM:607855]
K06240	Epidermolysis bullosa, generalized atrophic benign [MIM:226650]; Epidermolysis bullosa, junctional, Herlitz type [MIM:226700]; Laryngoonychocutaneous syndrome [MIM:245660]
K06243	Microcoria-congenital nephrosis syndrome [MIM:609049]
K06244	Epidermolysis bullosa, Herlitz junctional type [MIM:226700]; Epidermolysis bullosa, generalized atrophic benign [MIM:226650]
K06246	Epidermolysis bullosa, Herlitz junctional type [MIM:226700]; Epidermolysis bullosa, generalized atrophic benign [MIM:226650]
K06249	Lissencephaly syndrome, Norman-Roberts type [MIM:257320]
K06252	Ehlers-Danlos due to tenascin X deficiency [MIM:606408]; Ehlers-Danlos syndrome, hypermobility type [MIM:130020]
K06255	Dyssegmental dysplasia, Silverman-Handmaker type [MIM:224410]; Schwartz-Jampel syndrome, type 1 [MIM:255800]
K06256	[Blood group, Indian system]
K06259	Platelet glycoprotein IV deficiency [MIM:608404]; [Macrothrombocytopenia]; {Malaria, cerebral, reduced risk of} [MIM:248310]; {Malaria, cerebral, susceptibility to} [MIM:248310]; {Malaria, intensity of infection}
K06261	Bernard-Soulier syndrome, type A [MIM:231200]; von Willebrand disease, platelet-type [MIM:177820]; {Nonarteritic anterior ischemic optic neuropathy, susceptibility to} [MIM:258660]
K06262	Bernard-Soulier syndrome, type B [MIM:231200]; Giant platelet disorder, isolated
K06263	Bernard-Soulier syndrome, type C [MIM:231200]
K06278	Cardiomyopathy, familial hypertrophic [MIM:192600]; Creatine phosphokinase, elevated serum [MIM:123320]; Muscular dystrophy, limb-girdle, type IC [MIM:607801]; Myopathy, distal, with decreased caveolin 3; Rippling muscle disease [MIM:606072]
K06450	Severe combined immunodeficiency, T-negative/B-positive type [MIM:600802]
K06451	Immunodeficiency due to defect in CD3-epsilon
K06452	Immunodeficiency due to defect in CD3-gamma
K06453	CD3, zeta chain, deficiency
K06454	[CD4+ lymphocyte deficiency]; {Lupus erythematosus, susceptibility to}
K06458	CD8 deficiency, familial [MIM:608957]
K06463	Neutropenia, alloimmune neonatal; {Lupus erythematosus, systemic, susceptibility} [MIM:152700]; {Viral infections, recurrent}
K06464	Leukocyte adhesion deficiency [MIM:116920]
K06469	{Multiple sclerosis, susceptibility to} [MIM:126200]
K06472	Lymphoma, progression of; {Lupus nephritis, susceptibility to}
K06476	Glanzmann thrombasthenia, type A [MIM:273800]; Thrombocytopenia, neonatal alloimmune
K06478	Severe combined immunodeficiency due to PTPRC deficiency; {Multiple sclerosis, susceptibility to} [MIM:126200]
K06481	Glycoprotein Ia deficiency; Neonatal alloimmune thrombocytopenia
K06485	Epidermolysis bullosa, junctional, with pyloric stenosis [MIM:226730]
K06490	{Malaria, cerebral, susceptibility to}
K06493	Glanzmann thrombasthenia, type B
K06494	{Atherosclerosis, susceptibility to}
K06496	Atopy; Platelet alpha/delta storage pool deficiency; {Atopy, susceptibility to} [MIM:147050]
K06498	[IgG receptor I, phagocytic, familial deficiency of]
K06509	{Prostate cancer, susceptibility to} [MIM:176807]
K06525	Epidermolysis bullosa of hands and feet [MIM:131800]; Epidermolysis bullosa, generalized atrophic benign [MIM:226650]; Epidermolysis bullosa, junctional, with pyloric atresia [MIM:226730]
K06526	Hereditary hemorrhagic telangiectasia-1 [MIM:187300]
K06528	Glycogen storage disease IIb [MIM:300257]
K06529	[Blood group, John-Milton-Hagen]
K06532	Retinal degeneration, autosomal recessive, prominin-related
K06535	[Blood group, OK] [MIM:111380]
K06537	Nephropathy with pretibial epidermolysis bullosa and deafness [MIM:609057]
K06538	Hashimoto thyroiditis; {Celiac disease, susceptibility to} [MIM:609755]; {Diabetes mellitus, insulin-dependent, susceptibility to} [MIM:601388]; {Graves disease, susceptibility to} [MIM:275000]; {Hypothyroidism, autoimmune} [MIM:140300]
K06539	{Polio, susceptibility to}
K06550	CRASH syndrome [MIM:303350]; Hydrocephalus due to aqueductal stenosis [MIM:307000]; Hydrocephalus with Hirschsprung disease and cleft palate [MIM:142623]; Hydrocephalus with congenital idiopathic intestinal pseudoobstruction [MIM:307000]; MASA syndrome [MIM:303350]
K06554	Agammaglobulinemia, autosomal recessive [MIM:601495]
K06558	Prostate cancer, hereditary [MIM:176807]
K06563	SARS infection, protection against; {Dengue fever, protection against}; {HIV type 1, susceptibility to} [MIM:609423]; {Mycobacterium tuberculosis, susceptibility to} [MIM:607948]
K06564	Hepatocellular carcinoma
K06571	Mental retardation, X-linked 58 [MIM:300218]; Mental retardation, X-linked, syndromic 7
K06573	Hemolytic anemia due to band 3 defect defect; Renal tubular acidosis, distal [MIM:179800, 602722]; Spherocytosis, hereditary; [; [Acanthocytosis, one form]; [Blood group, Diego] [MIM:110500]; [Blood group, Waldner] [MIM:112010]; [Blood group, Wright] [MIM:112050]; [Elliptocytosis, Malaysian-Melanesian type]; [Blood group, Froese system]; [Blood group, Swann system]
K06574	[Blood group, Duffy system]; {Vivax malaria, susceptibility to}
K06575	[Blood group, MN]; [Blood group, Ss]
K06576	[Blood group, Gerbich]; {Malaria, resistance to} [MIM:248310]; {Malaria, intensity of infection}
K06577	[Blood group, Kell]
K06578	[Blood group, Auberger system]; [Blood group, Lutheran system]
K06579	Rh-null disease, amorph type; [Blood group, Rhesus]; [Rh-negative blood type]
K06580	Anemia, hemolytic, Rh-null, regulator type [MIM:268150]; Rh-mod syndrome
K06581	[Blood group, Landsteiner-Wiener]
K06583	Myopathy, congenital
K06618	Bladder cancer [MIM:109800]; Osteosarcoma [MIM:259500]; Pinealoma with bilateral retinoblastoma; Retinoblastoma
K06619	Leukemia, Philadelphia chromosome-positive, resistant to imatinib
K06621	Li Fraumeni syndrome [MIM:151623]; Melanoma and neural system tumor syndrome [MIM:155755]; Melanoma, cutaneous malignant, 2 [MIM:155601]; Orolaryngeal cancer, multiple,; Pancreatic cancer/melanoma syndrome [MIM:606719]
K06624	Beckwith-Wiedemann syndrome [MIM:130650]
K06630	Miller-Dieker lissencephaly [MIM:247200]
K06637	Colorectal cancer [MIM:114500]
K06638	Lymphoma, somatic; Prostate cancer, somatic [MIM:176807]
K06640	Seckel syndrome 1 [MIM:210600]
K06641	Li-Fraumeni syndrome [MIM:609265]; Osteosarcoma, somatic [MIM:259500]; Prostate cancer, familial [MIM:176807]; {Breast and colorectal cancer, susceptibility to}; {Breast cancer, susceptibility to} [MIM:114480]
K06642	Severe combined immunodeficiency, type I [MIM:202500]
K06643	{Accelerated tumor formation, susceptibility to}
K06664	Refsum disease, infantile form [MIM:266510]; Zellweger syndrome-3
K06713	ICOS deficiency [MIM:607594]
K06717	[Blood group, Dombrock]
K06744	{Systemic lupus erythematosus, susceptibility to, 2} [MIM:605218, 152700]
K06751	{Abacavir hypersensitivity, susceptibility to}; {Ankylosing spoldylitis, susceptibility to} [MIM:106300]; {Stevens-Johnson syndrome, carbamazepine-induced, susceptibility to} [MIM:608579]
K06755	Gaze palsy, horizontal, with progressive scoliosis [MIM:607313]
K06765	Colorectal cancer
K06770	Charcot-Marie-Tooth disease, dominant intermediate 3 [MIM:607791]; Charcot-Marie-Tooth disease, type 1B [MIM:118200]; Charcot-Marie-Tooth disease, type 2I [MIM:607677]; Charcot-Marie-Tooth disease, type 2J [MIM:607736]; Dejerine-Sottas syndrome [MIM:145900]; Neuropathy, congenital hypomyelinating [MIM:605253]; Roussy-Levy syndrome [MIM:180800]
K06792	Spondyloepiphyseal dysplasia, Kimberley type [MIM:608361]
K06796	Hypotrichosis, congential, with juvenile macular dystrophy [MIM:601553]
K06813	Deafness, autosomal recessive 12 [MIM:601386]; Usher syndrome, type 1D [MIM:601067]
K06823	Knobloch syndrome [MIM:267750]
K06825	Aortic aneurysm, ascending, and dissection; Ectopia lentis, familial [MIM:129600]; MASS syndrome [MIM:604308]; Marfan syndrome [MIM:154700]; Shprintzen-Goldberg syndrome [MIM:182212]; Weill-Marchesani syndrome, dominant [MIM:608328]
K06854	Thrombocythemia, essential [MIM:187950]
K07024	Carbohydrate-deficient glycoprotein syndrome, type I [MIM:212065]
K07152	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency [MIM:604377]; Hepatic failure, early onset, and neurologic disorder
K07187	{Diabetes mellitus, noninsulin-dependent}; {{Diabetes mellitus, noninsulin-dependent} [MIM:125853]
K07189	Insulin resistance, severe, digenic [MIM:604367]
K07190	Glycogenosis, X-linked hepatic, type I; Glycogenosis, X-linked hepatic, type II; Muscle glycogenosis; Phosphorylase kinase deficiency of liver and muscle, autosomal recessive [MIM:261750]
K07191	{Diabetes mellitus, noninsulin-dependent}
K07200	Cardiomyopathy, familial hypertrophic with Wolff-Parkinson-White syndrome; Cardiomyopathy, hypertrophic, with WPW [MIM:600858]; Wolff-Parkinson-White syndrome [MIM:194200]
K07201	Rhabdomyosarcoma, alveolar [MIM:268220]
K07202	Lipodystrophy, familial partial, with decreased subcutaneous fat of face and neck
K07206	Focal cortical dysplasia, Taylor balloon cell type [MIM:607341]; Lymphangioleiomyomatosis [MIM:606690]; Tuberous sclerosis-1 [MIM:191100]
K07207	Lymphangioleiomyomatosis, somatic [MIM:606690]; Tuberous sclerosis-2 [MIM:191100]
K07210	Ectodermal dysplasia, hypohidrotic, with immune deficiency [MIM:300291]; Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency [MIM:300301]; Immunodeficiency, isolated [MIM:300584]; Incontinentia pigmenti, type II [MIM:308300]
K07250	GABA-transaminase deficiency
K07253	{Rheumatoid arthritis, systemic juvenile, susceptibility to} [MIM:604302]
K07292	MODY, type I [MIM:125850]; {Diabetes mellitus, noninsulin-dependent} [MIM:125853]
K07293	Leopard syndrome [MIM:151100]; Leukemia, juvenile myelomonocytic [MIM:607785]; Noonan syndrome 1 [MIM:163950]
K07294	{Hyperapobetalipoproteinemia, susceptibility to}
K07296	Adiponectin deficiency
K07298	Melanoma, malignant sporadic; Pancreatic cancer, sporadic; Peutz-Jeghers syndrome [MIM:175200]
K07299	Glucose transport defect, blood-brain barrier [MIM:606777]
K07360	Selective T-cell defect
K07368	Colon cancer; Germ cell tumor; Lymphoma, MALT; Lymphoma, follicular; Mesothelioma; Sezary syndrome
K07369	MALT lymphoma
K07370	Agammaglobulinemia, type 1, X-linked; XLA and isolated growth hormone deficiency [MIM:307200]
K07371	Hypoglobulinemia and absent B cells
K07372	Atrioventricular septal defect [MIM:600309]; Hypoplastic left heart syndrome [MIM:241550]; Oculodentodigital dysplasia [MIM:164200]; Syndactyly, type III [MIM:186100]
K07378	{Asperger syndrome, susceptibility to, X-linked-1} [MIM:300494]; {Autism, susceptibility to, X-linked-1} [MIM:300425]
K07407	Fabry disease
K07410	Glaucoma 3A, primary congenital [MIM:231300]; Glaucoma, early-onset, digenic; Glaucoma, primary open angle, adult-onset [MIM:137760]; Glaucoma, primary open angle, juvenile-onset [MIM:137750]; Peters anomaly [MIM:604229]
K07411	Coumarin resistance [MIM:122700]; {Nicotine addiction, protection from}
K07413	Mephenytoin poor metabolizer; Opremazole poor metabolizer; Proguanil poor metabolizer; Rhabdomyolysis, cerivastatin-induced; Tolbutamide poor metabolizer; Warfarin sensitivity [MIM:122700]
K07414	Codeine sensitivity; Debrisoquine sensitivity; {?Parkinsonism, susceptibility to}
K07419	Rickets due to defect in vitamin D 25-hydroxylation [MIM:600081]
K07424	{Hypertension, salt-sensitive essential, susceptibility to} [MIM:145500]
K07427	Bietti crystalline corneoretinal dystrophy [MIM:210370]
K07430	Giant cell hepatitis, neonatal [MIM:231100]
K07434	Aromatase deficiency; Gynecomastia, familial, due to increased aromatase activity; Virilization, maternal and fetal, from placental aromatase deficiency
K07438	Pseudovitamin D deficiency rickets 1; Vitamin D-dependent rickets, type I [MIM:264700]
K07509	Trifunctional protein deficiency, type II
K07513	Pseudo-Zellweger syndrome [MIM:261515]
K07515	Fatty liver, acute, of pregnancy; HELLP syndrome, maternal, of pregnancy; LCHAD deficiency; Trifunctional protein deficiency, type 1
K07556	Complex V, mitochondrial respiratory chain, deficiency of [MIM:604273]
K07593	Fanconi-Bickel syndrome [MIM:227810]; {Diabetes mellitus, noninsulin-dependent}
K07594	MODY, type IV; Pancreatic agenesis [MIM:260370]; {Diabetes mellitus, type II, susceptibility to} [MIM:125853]
K07596	Keratosis palmoplantaris striata I [MIM:148700]
K07599	Hypotrichosis, localized, autosomal recessive [MIM:607903]
K07603	Epidermolysis bullosa, generalized atrophic benign [MIM:226650]
K07604	Epidermolytic hyperkeratosis [MIM:113800]; Ichthyosis, cyclic, with epidermolytic hyperkeratosis [MIM:607602]; Nevus, epidermal, epidermolytic hyperkeratotic type [MIM:600648]; Epidermolytic palmoplantar keratoderma [MIM:144200]; Meesmann corneal dystrophy [MIM:122100]; White sponge nevus [MIM:193900]
K07605	Cyclic ichthyosis with epidermolytic hyperkeratosis [MIM:607602]; Epidermolytic hyperkeratosis [MIM:113800]; Ichthyosis histrix, Curth-Macklin type [MIM:146590]; Keratosis palmoplantaria striata [MIM:148700]; Keratosis palmoplantaris striata III [MIM:607654]; Unna-Thost disease, nonepidermolytic [MIM:600962]
K07607	{Amyotrophic lateral sclerosis, susceptibility to} [MIM:105400]
K07610	Cardiomyopathy, dilated, 1I [MIM:604765]; Myopathy, desmin-related, cardioskeletal [MIM:601419]
K07611	Cardiomyopathy, dilated, 1A [MIM:115200]; Charcot-Marie-Tooth disease,; Emery-Dreifuss muscular dystrophy, AD [MIM:181350]; Emery-Dreifuss muscular dystrophy, AR [MIM:604929]; Lipodystrophy, familial partial [MIM:151660]
K07612	Cataract, zonular pulverulent-3 [MIM:601885]
K07617	Cataract, zonular pulverulent-1 [MIM:116200]
K07619	Pelizaeus-Merzbacher-like disease, autosomal recessive [MIM:608804]
K07620	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 [MIM:302800]
K07621	Bart-Pumphrey syndrome [MIM:149200]; Deafness, autosomal dominant 3 [MIM:601544]; Deafness, autosomal recessive 1 [MIM:220290]; Hystrix-like ichthyosis with deafness [MIM:602540]; Keratitis-ichthyosis-deafness syndrome [MIM:148210]; Keratoderma, palmoplantar, with deafness [MIM:148350]; Vohwinkel syndrome [MIM:124500]
K07622	Deafness, autosomal dominant 2; Deafness, autosomal dominant 2 [MIM:600101]; Deafness, autosomal dominant, with peripheral neuropathy; Deafness, autosomal recessive; Erythrokeratodermia variabilis [MIM:133200]
K07623	Erythrokeratodermia variabilis with erythema gyratum repens [MIM:133200]
K07625	Deafness, autosomal dominant 3 [MIM:601544]; Deafness, nonsyndromic neurosensory, digenic; Ectodermal dysplasia 2, hidrotic [MIM:129500]
K07634	Fucosyltransferase-6 deficiency
K07748	CHILD syndrome [MIM:308050]
K07818	Hemophagocytic lymphohistiocytosis, familial, 2 [MIM:603553]; Lymphoma, non-Hodgkin [MIM:605027]
K07825	{Hypertension, essential, susceptibility to} [MIM:145500]
K07827	Bladder cancer [MIM:109800]; Breast cancer, somatic [MIM:114480]; Leukemia, acute myelogenous; Lung cancer [MIM:211980]; Noonan syndrome 3 [MIM:609942]; Pancreatic carcinoma, somatic [MIM:260350]; Stomach cancer [MIM:137215]
K07828	Colorectal cancer [MIM:114500]; Thyroid carcinoma, follicular [MIM:188470]
K07830	Ovarian carcinoma
K07842	Ovarian cancer
K07860	Neutrophil immunodeficiency syndrome [MIM:608203]
K07885	Griscelli syndrome, type 2 [MIM:607624]
K07897	Charcot-Marie-Tooth disease, type 2B [MIM:600882]
K07951	Bardet-Biedl syndrome 1, modifier of [MIM:209900]; Bardet-Biedl syndrome 3 [MIM:209900]
K07954	Anderson disease [MIM:607689]; Chylomicron retention disease with Marinesco-Sjogren syndrome [MIM:607692]; Chylomicron retention disease [MIM:246700]
K07959	{Leukemia, chronic lymphatic, susceptibility to} [MIM:151400]
K07966	Congenital disorder of glycosylation, type IId [MIM:607091]
K07980	{AIDS, delayed/rapid progression to} [MIM:609423]
K07984	Cherubism [MIM:118400]
K07990	Lymphoproliferative syndrome, X-linked [MIM:308240]
K07992	Nasu-Hakola disease [MIM:221770]
K07994	Spondyloepimetaphyseal dysplasia, Missouri type [MIM:602111]
K07999	Amelogenesis imperfecta, pigmented hypomaturation type [MIM:204700]
K08008	Chronic granulomatous disease, X-linked [MIM:306400]
K08009	Chronic granulomatous disease, autosomal, due to deficiency of CYBA [MIM:233690]
K08010	Chronic granulomatous disease due to deficiency of NCF-2 [MIM:233710]
K08011	Chronic granulomatous disease due to deficiency of NCF-1 [MIM:233700]
K08013	Metastasis efficiency, modification of
K08021	Ichthyosiform erythroderma, congenital, nonbullous, 1 [MIM:242100]
K08025	Currarino syndrome [MIM:176450]; Sacral agenesis-1
K08031	Aniridia, type II [MIM:106210]; Cataract, congenital, with late-onset corneal dystrophy; Coloboma, ocular [MIM:120200]; Ectopia pupillae [MIM:129750]; Eye anomalies, multiplex; Foveal hypoplasia, isolated [MIM:136520]; Keratitis [MIM:148190]; Morning glory disc anomaly; Optic nerve hypoplasia/aplasia [MIM:165550]; Peters anomaly [MIM:603807]
K08033	{Diabetes mellitus, noninsulin-dependent} [MIM:125853]
K08034	Diabetes mellitus, noninsulin-dependent [MIM:125853]; Glomerulocystic kidney disease, hypoplastic [MIM:137920]; MODY, type V [MIM:604284]; MODY5 with nephron agenesis; MODY5 with non-diabetic renal disease and Mullerian aplasia
K08036	Hepatic adenoma [MIM:142330]; MODY, type III [MIM:600496]; {Diabetes mellitus, insulin-dependent} [MIM:222100]; {Diabetes mellitus, noninsulin-dependent, 2} [MIM:125853]; {Diabetes mellitus, insulin-dependent-1}
K08052	Leukemia, juvenile myelomonocytic [MIM:607785]; Melanoma, desmoplastic neurotropic; Neurofibromatosis, familial spinal [MIM:162210]; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome [MIM:601321]; Watson syndrome [MIM:193520]
K08055	Hemodialysis-related amyloidosis
K08058	Bare lymphocyte syndrome, type I [MIM:604571]
K08060	Bare lymphocyte syndrome, type II, complementation group A [MIM:209920]; {Multiple sclerosis, susceptibility to} [MIM:126200]; {Rheumatoid arthritis, susceptibility to} [MIM:180300]
K08061	Bare lymphocyte syndrome, type II, complementation group C [MIM:209920]; Bare lymphocyte syndrome, type II, complementation group E [MIM:209920]
K08063	Bare lymphocyte syndrome, type II, complementation group D [MIM:209920]
K08067	{Hypercholesterolemia, susceptibility to} [MIM:143890]
K08078	D-bifunctional protein deficiency [MIM:261515]
K08090	Atopy; {Asthma, atopic, susceptibility to}
K08109	Simpson-Golabi-Behmel syndrome, type 1 [MIM:312870]; Wilms tumor, somatic [MIM:194070]
K08114	{H. pylori infection, susceptibility to} [MIM:600263]
K08120	{Osteoarthritis susceptibility, female-specific}; {Osteoarthritis, susceptibility to} [MIM:165720]
K08123	Cornea plana congenita, recessive [MIM:217300]
K08129	Night blindness, congenital stationary, type 1 [MIM:310500]
K08131	Epiphyseal dysplasia, multiple, 2 [MIM:600204]; {Intervertebral disc disease, susceptibility to} [MIM:603932]; Epiphyseal dysplasia, multiple, 3 [MIM:600969]; Epiphyseal dysplasia, multiple, with myopathy; {Intervertebral disc disease, susceptibility to} [MIM:603932]; Epiphyseal dysplasia, multiple, COL9A1-related
K08171	Glycogen storage disease Ib [MIM:232220]; Glycogen storage disease Ic [MIM:232240]
K08201	{Rheumatoid arthritis, susceptibility to} [MIM:180300]
K08202	Carnitine deficiency, systemic primary [MIM:212140]
K08208	Hypouricemia, renal [MIM:220150]
K08214	Breast cancer [MIM:114480]; Lung cancer [MIM:211980]; Rhabdomyosarcoma [MIM:268210]
K08231	Allan-Herndon-Dudley syndrome [MIM:300523]
K08239	Mucolipidosis II [MIM:252500]; Mucolipidosis IIIA [MIM:252600]
K08253	Leukemia, acute myeloid, with eosinophilia
K08282	Leukemia, acute lymphocytic; Leukemia, chronic myeloid [MIM:608232]; Myotonic dystrophy [MIM:160900]
K08288	Polycystic liver disease [MIM:174050]