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Entry Name Description Category Pathway Gene
H00208 Hyperbilirubinemia ... test results are normal, aside from the primarily conjugated hyperbilirubinemia. The hepatocyte pigment deposits are typical of DJS. Total urinary excretion of coproporphyrins is greatly increased in RS. Inherited metabolic disorder (CN1, CN2) UGT1A1 [HSA:54658] [KO:K00699]
(DJS) ABCC2 [HSA:1244] [KO:K05666]
(RS) SLCO1B1 [HSA:10599] [KO:K05043]
(RS) SLCO1B3 [HSA:28234] [KO:K05043]
H00210 Wilson disease
Hepatolenticular degeneration 		... disease is an autosomal recessive disorder caused by mutation of a P-type ATPase important for copper excretion into bile, leading to copper accumulation in the liver. Toxic concentration of copper affects ... Inherited metabolic disorder ATP7B [HSA:540] [KO:K17686]
H00239 Bartter syndrome ... characterized by impaired salt reabsorption in the thick ascending loop of Henle with elevated aldosterone excretion resulting in salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Type 1 and 2 are ... Endocrine and metabolic disease (BARTS1) SLC12A1 [HSA:6557] [KO:K14425]
(BARTS2) KCNJ1 [HSA:3758] [KO:K04995]
(BARTS3) CLCNKB [HSA:1188] [KO:K05018]
(BARTS4A) BSND [HSA:7809] [KO:K19331]
(BARTS4B) CLCNKA,CLCNKB (double mutation) [HSA:1187 1188] [KO:K05017 K05018]
(BARTS5) MAGED2 [HSA:10916] [KO:K24127]
(HYPOC1) CASR [HSA:846] [KO:K04612]
H00241 Combined proximal and distal renal tubular acidosis (RTA type 3) ... metabolic acidosis, a severe disturbance of extracellular pH homeostasis, due to renal impaired acid excretion. RTA type 3 is a mixed type that shares the features of both proximal and distal lesions, with ... Urinary system disease CA2 [HSA:760] [KO:K18245]
H00242 Liddle syndrome ... characterized by hypokalemic metabolic alkalosis, low-renin activity, and suppressed aldosterone secretion. The mutations in the epithelial Na+ channel gene cause failure of the protein endocytosis and ... Cardiovascular disease (LIDLS1) SCNN1B [HSA:6338] [KO:K04825]
(LIDLS2) SCNN1G [HSA:6340] [KO:K04827]
(LIDLS3) SCNN1A [HSA:6337] [KO:K04824]
H00243 Hyperkalemic distal renal tubular acidosis (RTA type 4) ... metabolic acidosis, a severe disturbance of extracellular pH homeostasis, due to renal impaired acid excretion. Type 4 RTA is a heterogeneous group of disorders associated with hyperkalemia due to aldosterone ... Urinary system disease (PHA1A) NR3C2 [HSA:4306] [KO:K08555]
(PHA1B1) SCNN1A [HSA:6337] [KO:K04824]
(PHA1B2) SCNN1B [HSA:6338] [KO:K04825]
(PHA1B3) SCNN1G [HSA:6340] [KO:K04827]
(PHA2B) WNK4 [HSA:65266] [KO:K08867]
(PHA2C) WNK1 [HSA:65125] [KO:K08867]
(PHA2D) KLHL3 [HSA:26249] [KO:K10443]
(PHA2E) CUL3 [HSA:8452] [KO:K03869]
H00246 Primary hyperparathyroidism
Familial hyperparathyroidism 		Familial hyperparathyroidism (HRPT) is characterized by parathyroid adenoma and hyperplasia with hypersecretion of parathyroid hormone and hypercalcaemia. It is caused by mutation in the HRPT2 (CDC73 or Parafibromin) ... Endocrine and metabolic disease (HRPT1/2) CDC73 [HSA:79577] [KO:K15175]
(NSHPT) CASR [HSA:846] [KO:K04612]
(HRPT4) GCM2 [HSA:9247] [KO:K21598]
MEN1 [HSA:4221] [KO:K14970]
H00247 Multiple endocrine neoplasia syndrome
Wermer syndrome
Sipple syndrome 		Multiple endocrine neoplasias (MEN) are autosomal dominant syndrome which is characterized by the occurrence of tumors involving two or more endocrine glands. Four major forms of MEN are recognized, namely ... Cancer (MEN1) MEN1 [HSA:4221] [KO:K14970]
(MEN2A MEN2B) RET [HSA:5979] [KO:K05126]
(MEN4) CDKN1B [HSA:1027] [KO:K06624]
H00252 Congenital nephrogenic diabetes insipidus Nephrogenic diabetes insipidus (NDI) is characterized by renal insensitivity to the antidiuretic effect of arginine vasopressin. Urinary system disease (NDI1) AVPR2 [HSA:554] [KO:K04228]
(NDI2) AQP2 [HSA:359] [KO:K09865]
H00253 Neurohypophyseal diabetes insipidus
Central diabetes insipidus 		... insipidus (NDI), also known as central diabetes insipidus, is a heterogeneous condition characterized by polyuria and polydipsia caused by defect of antidiuretic hormone secreted from the pituitary gland. Endocrine and metabolic disease AVP [HSA:551] [KO:K05242]
H00254 Growth hormone deficiency
Pituitary dwarfism 		... hormone deficiency, formerly known as Pituitary dwarfism, is a heterogeneous condition characterized by growth retardation with short stature and normal body proportions caused by growth hormone deficiency. Endocrine and metabolic disease (IGHD1A/1B/2) GH1 [HSA:2688] [KO:K05438]
(IGHD3) BTK [HSA:695] [KO:K07370]
(IGHD4) GHRHR [HSA:2692] [KO:K04584]
(CPHD1) POU1F1 [HSA:5449] [KO:K09363]
(CPHD2) PROP1 [HSA:5626] [KO:K09327]
(CPHD3) LHX3 [HSA:8022] [KO:K09374]
(CPHD4) LHX4 [HSA:89884] [KO:K09374]
(CPHD5) HESX1 [HSA:8820] [KO:K09354]
(CPHD6) OTX2 [HSA:5015] [KO:K18490]
(CPHD7/IGHD5) RNPC3 [HSA:55599] [KO:K13157]
(CPHD8) ROBO1 [HSA:6091] [KO:K06753]
(PD2) GHR [HSA:2690] [KO:K05080]
(PHPX) SOX3 [HSA:6658] [KO:K09267]
(GHDP) GHSR [HSA:2693] [KO:K04284]
H00255 Hypogonadotropic hypogonadism ... HH may result from either absent or inadequate hypothalamic gonadotropin releasing hormone (GnRH) secretion or failure of pituitary gonadotropin secretion. HH can be congenital or acquired. Congenital HH ... Endocrine and metabolic disease (HH1/KAL1) ANOS1 [HSA:3730] [KO:K23413]
(HH2/KAL2) FGFR1 [HSA:2260] [KO:K04362]
(HH3/KAL3) PROKR2 [HSA:128674] [KO:K08380]
(HH4/KAL4) PROK2 [HSA:60675] [KO:K24191]
(HH5/KAL5) CHD7 [HSA:55636] [KO:K14437]
(HH6/KAL6) FGF8 [HSA:2253] [KO:K04358]
(HH7/FEUNS) GNRHR [HSA:2798] [KO:K04280]
(HH8) KISS1R [HSA:84634] [KO:K08374]
(HH9) NSMF [HSA:26012] [KO:K23844]
(HH10) TAC3 [HSA:6866] [KO:K05240]
(HH11) TACR3 [HSA:6870] [KO:K04224]
(HH12) GNRH1 [HSA:2796] [KO:K05252]
(HH13) KISS1 [HSA:3814] [KO:K23140]
(HH14) WDR11 [HSA:55717] [KO:K24260]
(HH15) HS6ST1 [HSA:9394] [KO:K02514]
(HH16) SEMA3A [HSA:10371] [KO:K06840]
(HH17) SPRY4 [HSA:81848] [KO:K17385]
(HH18) IL17RD [HSA:54756] [KO:K05167]
(HH19) DUSP6 [HSA:1848] [KO:K21946]
(HH20) FGF17 [HSA:8822] [KO:K04358]
(HH21) FLRT3 [HSA:23767] [KO:K16362]
(HH22) FEZF1 [HSA:389549] [KO:K24502]
(HH23/FEUNS) LHB [HSA:3972] [KO:K08521]
(HH24/IFSHD) FSHB [HSA:2488] [KO:K05250]
(HH25) NDNF [HSA:79625] [KO:K25687]
(HH26) TCF12 [HSA:6938] [KO:K15603]
(HH27) NHLH2 [HSA:4808] [KO:K09075]
H00257 Achalasia Addisonianism Alacrima syndrome
Triple A syndrome
Allgrove syndrome 		... mutation in the AAAS gene on 12q13. Recently, it has been reported that mutations in GMPPA cause alacrima, achalasia, and mental retardation syndrome (AAMR), that shows similarity to the triple A syndrome. Endocrine and metabolic disease (AAA) AAAS [HSA:8086] [KO:K14320]
(AAMR) GMPPA [HSA:29926] [KO:K00966]
H00263 Acrocallosal syndrome Acrocallosal syndrome (ACLS) is an autosomal recessive condition, characterized by agenesis of the corpus callosum, polydactyly, minor craniofacial anomalies and psychomotor retardation. Congenital malformation KIF7 [HSA:374654] [KO:K18806]
H00278 Enteropathogenic Escherichia coli (EPEC) infection ... diarrhea in developing countries. EPEC and EHEC [DS:H00277] strains are characterized by the type III secretion system and its cognate effectors encoded in the locus of enterocyte effacement (LEE), but EPEC ... Bacterial infectious disease hsa05130 Pathogenic Escherichia coli infection
H00279 Uropathogenic Escherichia coli (UPEC) infection ... UTI infections worldwide. Once inside the urinary tract, UPEC preferentially colonizes the bladder and causes cystitis, but can also ascend through the ureters into the kidneys, causing pyelonephritis. Bacterial infectious disease
H00280 Enterotoxigenic Escherichia coli (ETEC) infection ... countries and an important etiologic agent for traveler's diarrhea. ETEC strains colonize the small intestine, secrete heat-labile (cholera toxin-like) and heat-stable enterotoxins, and cause watery diarrhea. Bacterial infectious disease
H00286 Crohn disease ... NOD2 mutations. Evidence exists that the NOD2 polymorphisms impair NF-kappaB activation and cytokine secretion in response to its ligand. The pathogenesis of Crohn's disease is also attributed to intestinal ... Immune system disease (IBD1) NOD2 [HSA:64127] [KO:K10165]
(IBD1) IL6 [HSA:3569] [KO:K05405]
(IBD10) ATG16L1 [HSA:55054] [KO:K17890]
(IBD17) IL23R [HSA:149233] [KO:K05065]
(IBD19) IRGM [HSA:345611] [KO:K14139]
(IBD25) IL10RB [HSA:3588] [KO:K05135]
(IBD28) IL10RA [HSA:3587] [KO:K05134]
H00293 Arrhythmogenic right ventricular cardiomyopathy ... a crucial part in electromechanical coupling by control of release of calcium from the sarcoplasmic reticulum into the cytosol. Therefore, defects in this receptor could result in an imbalance of calcium ... Cardiovascular disease hsa05412 Arrhythmogenic right ventricular cardiomyopathy (ARVD1) TGFB3 [HSA:7043] [KO:K13377]
(ARVD2) RYR2 [HSA:6262] [KO:K04962]
(ARVD5) TMEM43 [HSA:79188] [KO:K27488]
(ARVD8) DSP [HSA:1832] [KO:K10381]
(ARVD9) PKP2 [HSA:5318] [KO:K12642]
(ARVD10) DSG2 [HSA:1829] [KO:K07597]
(ARVD11) DSC2 [HSA:1824] [KO:K07601]
(ARVD12) JUP [HSA:3728] [KO:K10056]
(ARVD13) CTNNA3 [HSA:29119] [KO:K05691]
(ARVD14) CDH2 [HSA:1000] [KO:K06736]
H00347 Chlamydia infection ... sexually transmissible diseases in the world. Chlamydial infection can cause cervicitis in women and urethritis in men. Most of these infections are asymptomatic but, if not treated, can lead to non-gonococcal ... Bacterial infectious disease
H00388 Non-chlamydial non-gonococcal urethritis Urethritis in men is one of the most common sexually transmitted diseases. Recently, it has been suggested that various pathogenic microorganisms such as Mycoplasma genitalium and Ureaplasma urealyticum ... Bacterial infectious disease
H00389 Hemorrhagic fever with renal syndrome ... Soricomorpha species are natural reservoirs of these viruses, and humans acquire infection by inhaling the excreta of infected animals. HFRS is characterized by renal failure, hemorrhages, and shock. The serotype ... Viral infectious disease
H00403 Disorders of nucleotide excision repair ... with the hallmark feature of brittle hair and nails, ichthyosis, and progressive mental and physical retardation. Within photo-sensitive TTD, three TFIIH coding genes (ERCC2, ERCC3, and TTDA/GTF2H5) are ... Congenital malformation (XPA) XPA [HSA:7507] [KO:K10847]
(XPB/CS, TTD) ERCC3 [HSA:2071] [KO:K10843]
(XPC) XPC [HSA:7508] [KO:K10838]
(XPD, TTD) ERCC2 [HSA:2068] [KO:K10844]
(XPE) DDB2 [HSA:1643] [KO:K10140]
(XPE-2) DDB1 [HSA:1642] [KO:K10610]
(XPF/CS) ERCC4 [HSA:2072] [KO:K10848]
(XPG/CS, COFS3) ERCC5 [HSA:2073] [KO:K10846]
(XPV) POLH [HSA:5429] [KO:K03509]
(CSA) ERCC8 [HSA:1161] [KO:K10570]
(CSB, DSC, UVS, COFS1) ERCC6 [HSA:2074] [KO:K10841]
(TTD) GTF2H5 [HSA:404672] [KO:K10845]
(COFS4) ERCC1 [HSA:2067] [KO:K10849]
H00409 Type 2 diabetes mellitus ... peripheral tissues (skeletal muscle, liver, adipose tissue) and insufficient compensatory insulin secretion by pancreatic beta cells. Both insulin resistance and beta cell dysfunction are thought to result ... Endocrine and metabolic disease hsa04930 Type II diabetes mellitus IGF2BP2 [HSA:10644] [KO:K17392]
CAPN10 [HSA:11132] [KO:K08579]
SLC30A8 [HSA:169026] [KO:K14695]
KCNJ11 [HSA:3767] [KO:K05004]
MTNR1B [HSA:4544] [KO:K04286]
ENPP1 [HSA:5167] [KO:K01513]
PPARG [HSA:5468] [KO:K08530]
HNF1B [HSA:6928] [KO:K08034]
TCF7L2 [HSA:6934] [KO:K04491]
WFS1 [HSA:7466] [KO:K14020]
PAX4 [HSA:5078] [KO:K08032]
HNF1B [HSA:6928] [KO:K08034]
AKT2 [HSA:208] [KO:K04456]
H00410 Maturity onset diabetes of the young (MODY) ... characterized by autosomal dominant inheritance, early onset before 25 years of age and primary insulin secretion defects. Mutations in six genes, encoding the glucose sensor enzyme glucokinase and five transcription ... Endocrine and metabolic disease hsa04950 Maturity onset diabetes of the young (MODY1) HNF4A [HSA:3172] [KO:K07292]
(MODY2) GCK [HSA:2645] [KO:K12407]
(MODY3) HNF1A [HSA:6927] [KO:K08036]
(MODY4) PDX1 [HSA:3651] [KO:K07594]
(MODY5) HNF1B [HSA:6928] [KO:K08034]
(MODY6) NEUROD1 [HSA:4760] [KO:K08033]
(MODY7) KLF11 [HSA:8462] [KO:K09209]
(MODY8) CEL [HSA:1056] [KO:K12298]
(MODY9) PAX4 [HSA:5078] [KO:K08032]
(MODY10) INS [HSA:3630] [KO:K04526]
(MODY11) BLK [HSA:640] [KO:K08890]
(MODY13) KCNJ11 [HSA:3767] [KO:K05004]
(MODY14) APPL1 [HSA:26060] [KO:K08733]
H00416 Omsk hemorrhagic fever ... headache, nausea, severe muscle pain, cough, and moderately severe hemorrhagic manifestations. Dermacentor reticulatus ticks are the main vector of Omsk hemorrhagic fever virus, but people are mainly infected ... Viral infectious disease
H00418 Bardet-Biedl syndrome ... with genetic heterogeneity characterized by defects in multiple organ systems. The main features are retinal degeneration, obesity, hypogonadism, polydactyly, renal dysfunction, and mental retardation. ... Inherited metabolic disorder (BBS1) BBS1 [HSA:582] [KO:K16746]
(BBS2) BBS2 [HSA:583] [KO:K16747]
(BBS3) ARL6 [HSA:84100] [KO:K07951]
(BBS4) BBS4 [HSA:585] [KO:K16531]
(BBS5) BBS5 [HSA:129880] [KO:K16748]
(BBS6) MKKS [HSA:8195] [KO:K09492]
(BBS7) BBS7 [HSA:55212] [KO:K16749]
(BBS8) TTC8 [HSA:123016] [KO:K16781]
(BBS9) BBS9 [HSA:27241] [KO:K19398]
(BBS10) BBS10 [HSA:79738] [KO:K19401]
(BBS11) TRIM32 [HSA:22954] [KO:K10607]
(BBS12) BBS12 [HSA:166379] [KO:K19402]
(BBS13) MKS1 [HSA:54903] [KO:K19332]
(BBS14) CEP290 [HSA:80184] [KO:K16533]
(BBS15) WDPCP [HSA:51057] [KO:K22863]
(BBS16) SDCCAG8 [HSA:10806] [KO:K16488]
(BBS17) LZTFL1 [HSA:54585] [KO:K19400]
(BBS18) BBIP1 [HSA:92482] [KO:K19399]
(BBS19) IFT27 [HSA:11020] [KO:K07934]
(BBS20) IFT172 [HSA:26160] [KO:K19676]
(BBS21) CFAP418 [HSA:157657] [KO:K25226]
(BBS22) IFT74 [HSA:80173] [KO:K19679]
H00422 Glycoproteinoses ... undegraded oligosaccharides in lysosomes. Glycoproteinoses share many clinical features such as mental retardation, coarse facies, and dysostosis multiplex. Cathepsin A-deficiency causes combined sialidase ... Inherited metabolic disorder, Lysosomal disease (Sialidosis, Galactosialidosis) NEU1 [HSA:4758] [KO:K01186]
(Galactosialidosis) CTSA [HSA:5476] [KO:K13289]
(Galactosialidosis) GLB1 [HSA:2720] [KO:K12309]
(alpha-Mannosidosis) MAN2B1 [HSA:4125] [KO:K12311]
(beta-Mannosidosis) MANBA [HSA:4126] [KO:K01192]
(AGU) AGA [HSA:175] [KO:K01444]
(Fucosidosis) FUCA1 [HSA:2517] [KO:K01206]
(Schindler/ Kanzaki) NAGA [HSA:4668] [KO:K01204]
H00428 Distal renal tubular acidosis (RTA type 1) ... metabolic acidosis, a severe disturbance of extracellular pH homeostasis, due to renal impaired acid excretion. The distal type of RTA (dRTA) arises when the collecting duct fails to remove excess acid into ... Urinary system disease (DRTA1/DRTA4) SLC4A1 [HSA:6521] [KO:K06573]
(DRTA2) ATP6V1B1 [HSA:525] [KO:K02147]
(DRTA3) ATP6V0A4 [HSA:50617] [KO:K02154]
H00429 Proximal renal tubular acidosis (RTA type 2) ... metabolic acidosis, a severe disturbance of extracellular pH homeostasis, due to renal impaired acid excretion. Proximal RTA (type 2) is caused by an impairment of bicarbonate reabsorption in the proximal ... Urinary system disease SLC4A4 [HSA:8671] [KO:K13575]
H00435 Toxoplasmosis ... encephalitis. Transmission can also occur vertically. Congenital infection causes spontaneous abortion or serious defects such as hydrocephalus, chorioretinitis, and intracranial calcification in infants. Parasitic infectious disease hsa05145 Toxoplasmosis
H00440 Rett syndrome Rett Syndrome is a severe neurological disorder found almost exclusively in girls. It is characterized by acquired microcephaly, communication dysfunction, psychomotor regression, seizures and stereotypical ... Nervous system disease MECP2 [HSA:4204] [KO:K11588]
FOXG1 [HSA:2290] [KO:K09385]
H00465 Fragile X syndrome Fragile X syndrome (FXS) is a cognitive disorder caused by silencing of the fragile X mental retardation 1 gene (FMR1). Absence of the associated protein FMRP leads to the dysregulation of many genes creating ... Chromosomal abnormality FMR1 [HSA:2332] [KO:K15516]
H00480 X-linked intellectual developmental disorder
X-linked mental retardation 		X-linked intellectual developmental disorder (XLID), formerly known as X-linked mental retardation, is an inherited condition that causes failure to develop cognitive abilities because of mutations in ... Mental and behavioural disorder (XLID1) IQSEC2 [HSA:23096] [KO:K12495]
(XLID3) HCFC1 [HSA:3054] [KO:K14966]
(XLID9) FTSJ1 [HSA:24140] [KO:K14864]
(XLID12) THOC2 [HSA:57187] [KO:K12879]
(XLID19) RPS6KA3 [HSA:6197] [KO:K04373]
(XLID21) IL1RAPL1 [HSA:11141] [KO:K05170]
(XLID29) ARX [HSA:170302] [KO:K09452]
(XLID30) PAK3 [HSA:5063] [KO:K05733]
(XLID41) GDI1 [HSA:2664] [KO:K17255]
(XLID58) TSPAN7 [HSA:7102] [KO:K06571]
(XLID63) ACSL4 [HSA:2182] [KO:K01897]
(XLID72) RAB39B [HSA:116442] [KO:K07925]
(XLID90) DLG3 [HSA:1741] [KO:K21098]
(XLID93) BRWD3 [HSA:254065] [KO:K11798]
(XLID96) SYP [HSA:6855]
(XLID97) ZNF711 [HSA:7552] [KO:K24376]
(XLID98) NEXMIF [HSA:340533] [KO:K25862]
(XLID99) USP9X [HSA:8239] [KO:K11840]
(XLID100) KIF4A [HSA:24137] [KO:K10395]
(XLID101) MID2 [HSA:11043] [KO:K10647]
(XLID103) KLHL15 [HSA:80311] [KO:K10452]
(XLID104) FRMPD4 [HSA:9758] [KO:K23956]
(XLID105) USP27X [HSA:389856] [KO:K11366]
(XLID106) OGT [HSA:8473] [KO:K09667]
(XLID107) STEEP1 [HSA:63932] [KO:K24996]
(XLID108) SLC9A7 [HSA:84679] [KO:K12041]
(XLID109) AFF2 [HSA:2334] [KO:K15194]
(XLID110) FGF13 [HSA:2258] [KO:K22413]
(XLID111) SLITRK2 [HSA:84631] [KO:K25833]
(XLID112) ZMYM3 [HSA:9203] [KO:K24675]
(XLID113) CSTF2 [HSA:1478] [KO:K14407]
H00481 Cone-rod dystrophy and cone dystrophy Cone-rod dystrophy (CORD) and cone dystrophy (COD) are a subgroup of inherited retinal dystrophies characterized by progressive loss of photoreceptor function. In contrast to retinitis pigmentosa (RP) ... Nervous system disease (CORD2) CRX [HSA:1406] [KO:K09337]
(CORD3) ABCA4 [HSA:24] [KO:K05644]
(CORD5) PITPNM3 [HSA:83394] [KO:K24069]
(CORD6/RCD2) GUCY2D [HSA:3000] [KO:K12321]
(CORD9) ADAM9 [HSA:8754] [KO:K06834]
(CORD10) SEMA4A [HSA:64218] [KO:K06521]
(CORD11) RAX2 [HSA:84839] [KO:K09333]
(CORD12) PROM1 [HSA:8842] [KO:K06532]
(CORD13) RPGRIP1 [HSA:57096] [KO:K16512]
(CORD14/COD3) GUCA1A [HSA:2978] [KO:K08328]
(CORD15) CDHR1 [HSA:92211] [KO:K16501]
(CORD16) C8orf37 [HSA:157657] [KO:K25226]
(CORD18) RAB28 [HSA:9364] [KO:K07915]
(CORD19) TTLL5 [HSA:23093] [KO:K16602]
(CORD20) POC1B [HSA:282809] [KO:K16482]
(CORD21) DRAM2 [HSA:128338] [KO:K21956]
(CORD22) TLCD3B [HSA:83723] [KO:K26600]
(CORD24) UNC119 [HSA:9094] [KO:K23539]
(CORDX1/COD1) RPGR [HSA:6103] [KO:K19607]
(CORDX3) CACNA1F [HSA:778] [KO:K04853]
(COD4) PDE6C [HSA:5146] [KO:K13757]
(RCD3A) PDE6H [HSA:5149] [KO:K13760]
(RCD3B) KCNV2 [HSA:169522] [KO:K04935]
(RCD4) CACNA2D4 [HSA:93589] [KO:K04861]
H00489 LCHAD deficiency
Long-chain 3-hydroxyacyl CoA dehydrogenase deficiency 		... hypotonia, and hepatomegaly. In addition, patients may present with cardiomyopathy, peripheral neuropathy, retinopathy, seizures, coma, and sudden infant death (SIDS). Acute fatty liver of pregnancy and the HELLP ... Inherited metabolic disorder HADHA [HSA:3030] [KO:K07515]
H00492 SHOX-related short stature Isolated short stature, Leri-Weill and Langer syndromes are conditions with growth retardation. Patients also exhibit mesomelic shortening in Leri-Weill and Langer syndromes. These conditions are due to ... Congenital malformation SHOX [HSA:6473] [KO:K09331]
H00499 Spondylocarpotarsal synostosis syndrome ... disease characterized by the malsegmentation of vertebrae and the fusion of carpal and tarsal bones. Retinal anomalies and hearing loss are also observed. Spondylocarpotarsal synostosis syndrome is due ... Congenital malformation FLNB (nonsense mutation) [HSA:2317] [KO:K27392]
H00504 Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome (RSTS) is an autosomal dominant disorder with distinctive facial features, broad thumbs and toes, and mental retardation. Mutations in CREBBP and EP300 have been reported in the syndrome. Congenital malformation (RSTS1) CREBBP [HSA:1387] [KO:K04498]
(RSTS2) EP300 [HSA:2033] [KO:K04498]
H00509 3M syndrome The 3M syndrome is an autosomal recessive disorder characterized by pre- and postnatal growth retardation. It is caused by mutations in CUL7 and OBSL1. Congenital malformation (3M1) CUL7 [HSA:9820] [KO:K10613]
(3M2) OBSL1 [HSA:23363] [KO:K19574]
(3M3) CCDC8 [HSA:83987] [KO:K17561]
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