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Entry Name Description Category Pathway Gene
H01887 3MC syndrome
Malpuech-Michels-Mingarelli-Carnevale syndrome 		3MC syndrome is an autosomal recessive heterogeneous disorder with features linked to developmental abnormalities. Patients with 3MC syndrome may exhibit a spectrum of developmental features, including ... Congenital malformation (3MC1) MASP1 [HSA:5648] [KO:K03992]
(3MC2) COLEC11 [HSA:78989] [KO:K10066]
(3MC3) COLEC10 [HSA:10584] [KO:K10065]
H01897 Oocyte/zygote/embryo maturation arrest Human reproduction requires gamete maturation, fertilization, and early embryonic development. Oocyte maturation includes nuclear and cytoplasmic maturation, and abnormalities in the process will lead ... Reproductive system disease (OZEMA1) ZP1 [HSA:22917] [KO:K19926]
(OZEMA2) TUBB8 [HSA:347688] [KO:K07375]
(OZEMA3) ZP3 [HSA:7784] [KO:K19928]
(OZEMA4) PATL2 [HSA:197135] [KO:K24823]
(OZEMA5) WEE2 [HSA:494551] [KO:K06632]
(OZEMA6) ZP2 [HSA:7783] [KO:K19927]
(OZEMA7) PANX1 [HSA:24145] [KO:K03443]
(OZEMA8) BTG4 [HSA:54766] [KO:K14443]
(OZEMA9) TRIP13 [HSA:9319] [KO:K22399]
(OZEMA10) REC114 [HSA:283677] [KO:K26084]
(OZEMA11) ASTL [HSA:431705] [KO:K08778]
(OZEMA12) FBXO43 [HSA:286151] [KO:K10318]
(OZEMA13) ZFP36L2 [HSA:678] [KO:K18753]
(OZEMA14) CDC20 [HSA:991] [KO:K03363]
(OZEMA15) TLE6 [HSA:79816] [KO:K04497]
(OZEMA16) PADI6 [HSA:353238] [KO:K01481]
(OZEMA17) KPNA7 [HSA:402569] [KO:K15043]
(OZEMA18) NLRP2 [HSA:55655] [KO:K19409]
(OZEMA19) NLRP5 [HSA:126206] [KO:K22626]
(OZEMA20) MOS [HSA:4342] [KO:K04367]
(OZEMA21) CHEK1 [HSA:1111] [KO:K02216]
H01947 Fanconi-Bickel syndrome ... a rare autosomal recessive disorder of carbohydrate metabolism. FBS is caused by mutations in the SLC2A2 (GLUT2) gene, which encodes the glucose transporter. The typical clinical signs are hepatomegaly ... Inherited metabolic disorder SLC2A2 [HSA:6514] [KO:K07593]
H01959 Muscular dystrophy-dystroglycanopathy type C Muscular dystrophies due to reduced glycosylation of alpha-dystroglycan have emerged as a common group of conditions, now referred to as dystroglycanopathies. The phenotypic severity of dystroglycanopathy ... Inherited metabolic disorder (MDDGC1) POMT1 [HSA:10585] [KO:K00728]
(MDDGC2) POMT2 [HSA:29954] [KO:K00728]
(MDDGC3) POMGNT1 [HSA:55624] [KO:K09666]
(MDDGC4) FKTN [HSA:2218] [KO:K19872]
(MDDGC5) FKRP [HSA:79147] [KO:K19873]
(MDDGC7) CRPPA [HSA:729920] [KO:K21031]
(MDDGC8) POMGNT2 [HSA:84892] [KO:K18207]
(MDDGC9) DAG1 [HSA:1605] [KO:K06265]
(MDDGC12) POMK [HSA:84197] [KO:K17547]
(MDDGC14) GMPPB [HSA:29925] [KO:K00966]
(MDDGC15) DPM3 [HSA:54344] [KO:K09659]
H01983 Carnitine-acylcarnitine translocase deficiency Carnitine-acylcarnitine translocase (CACT) is located in the inner mitochondrial membrane and operates a carnitine-acylcarnitine exchange across this membrane. It is one of the key enzymes for transporting ... Inherited metabolic disorder SLC25A20 [HSA:788] [KO:K15109]
H02005 Mitochondrial complex II deficiency
Succinate dehydrogenase deficiency
Succinate CoQ reductase deficiency 		Mitochondrial complex II (CII, succinate dehydrogenase complex) deficiency is a rare cause of mitochondrial respiratory chain defects. CII functions in the TCA cycle and in the mitochondrial electron transport ... Inherited metabolic disorder, Mitochondrial disease (MC2DN1) SDHA [HSA:6389] [KO:K00234]
(MC2DN2) SDHAF1 [HSA:644096] [KO:K18167]
(MC2DN3) SDHD [HSA:6392] [KO:K00237]
(MC2DN4) SDHB [HSA:6390] [KO:K00235]
H02026 Familial hypocalciuric hypercalcemia ... disorder with three variants. HHC1 is due to loss-of-function mutations of the calcium-sensing receptor. HHC2 is due to mutations in GNA11. HHC3 is associated with AP2S1 mutations, which result in altered calcium-sensing ... Inherited metabolic disorder (HHC1) CASR [HSA:846] [KO:K04612]
(HHC2) GNA11 [HSA:2767] [KO:K04635]
(HHC3) AP2S1 [HSA:1175] [KO:K11827]
H02046 OFC syndrome
Oto-facio-cervical syndrome 		... intellectual disability. OFC1, inherited as an autosomal dominant trait, is caused by mutations in the EYA1 gene. And OFC2, inherited as an autosomal recessive trait, is caused by mutations in the PAX1 gene. Congenital malformation (OFC1) EYA1 [HSA:2138] [KO:K15616]
(OFC2) PAX1 [HSA:5075] [KO:K09382]
H02049 Bilateral macronodular adrenal hyperplasia Bilateral macronodular adrenal hyperplasia (BMAH) is an adrenal disorder characterized by bilateral benign adrenocortical nodules associated with variable levels of cortisol excess. BMAH is an adrenal ... Endocrine and metabolic disease ARMC5 [HSA:79798] [KO:K22499]
MEN1 [HSA:4221] [KO:K14970]
FH [HSA:2271] [KO:K01679]
PDE11A [HSA:50940] [KO:K13298]
GNAS1 [HSA:2778] [KO:K04632]
APC [HSA:324] [KO:K02085]
MC2R [HSA:4158] [KO:K04200]
PRKACA [HSA:5566] [KO:K04345]
H02056 Dubin-Johnson syndrome ... chronic conjugated hyperbilirubinemia and impaired hepatobiliary transport of non-bile salt organic anions. It is caused by mutations in ABCC2, a canalicular bilirubin glucuronide and xenobiotic export pump. Inherited metabolic disorder ABCC2 [HSA:1244] [KO:K05666]
H02063 Diastrophic dysplasia Diastrophic dysplasia (DTD) is an autosomal recessive skeletal dysplasia caused by SLC26A2 mutations. Clinical features include short stature, joint contractures, spinal deformities, and cleft palate. ... Congenital malformation SLC26A2 [HSA:1836] [KO:K14701]
H02065 Achondrogenesis type IB
Achondrogenesis, Fraccaro type 		... recessive chondrodysplasia characterized by extremely poor skeletal development and perinatal death. ACG-IB is caused by mutations in the solute carrier family 26 sulphate transporter, member 2 gene (SLC26A2). Congenital malformation SLC26A2 [HSA:1836] [KO:K14701]
H02086 Mitochondrial complex III deficiency ... Until now, mutations in nine genes have been known to cause CIII deficiency. CYC1, UQCRB, UQCRQ, and UQCRC2 encode components of CIII itself, whereas BCS1L, TTC19, LYRM7, UQCC2, and UQCC3 produce mitochondrial ... Inherited metabolic disorder, Mitochondrial disease (MC3DN1) BCS1L [HSA:617] [KO:K08900]
(MC3DN2) TTC19 [HSA:54902] [KO:K18169]
(MC3DN3) UQCRB [HSA:7381] [KO:K00417]
(MC3DN4) UQCRQ [HSA:27089] [KO:K00418]
(MC3DN5) UQCRC2 [HSA:7385] [KO:K00415]
(MC3DN6) CYC1 [HSA:1537] [KO:K00413]
(MC3DN7) UQCC2 [HSA:84300] [KO:K17682]
(MC3DN8) LYRM7 [HSA:90624] [KO:K18170]
(MC3DN9) UQCC3 [HSA:790955] [KO:K23165]
(MC3DN10) UQCRFS1 [HSA:7386] [KO:K00411]
(MC3DN11) UQCRH [HSA:7388] [KO:K00416]
H02114 Spastic paraplegia, optic atrophy, and neuropathy ... atrophy, progressive spastic paraplegia with onset in infancy, and progressive motor and sensory axonal neuropathy. A mutation in KLC2 gene has been reported to be responsible for the SPOAN phenotype. Nervous system disease KLC2 [HSA:64837] [KO:K10407]
H02145 Calcium oxalate nephrolithiasis
Calcium oxalate urolithiasis 		... genetically heterogenous, and mutations in at least 30 genes have been linked to this disorder. Recently, it has been reported that mutations in SLC26A1 cause a recessive form of calcium oxalate urolithiasis. Urinary system disease (CAON1) SLC26A1 [HSA:10861] [KO:K14700]
(CAON2) OXGR1 [HSA:27199] [KO:K08419]
H02157 Short-rib thoracic dysplasia Short-rib thoracic dysplasia (SRTD) is a group of autosomal recessive skeletal ciliopathies. The ciliary machinery has been implicated in more than a dozen disorders, now called ciliopathies. Primary cilia ... Congenital malformation (SRTD2) IFT80 [HSA:57560] [KO:K19678]
(SRTD3) DYNC2H1 [HSA:79659] [KO:K10414]
(SRTD4) TTC21B [HSA:79809] [KO:K19673]
(SRTD5) WDR19 [HSA:57728] [KO:K19671]
(SRTD6) NEK1 [HSA:4750] [KO:K08857]
(SRTD7) WDR35 [HSA:57539] [KO:K19674]
(SRTD8) DYNC2I1 [HSA:55112] [KO:K22869]
(SRTD9) IFT140 [HSA:9742] [KO:K19672]
(SRTD10) IFT172 [HSA:26160] [KO:K19676]
(SRTD11) DYNC2I2 [HSA:89891] [KO:K22868]
(SRTD13) CEP120 [HSA:153241] [KO:K16459]
(SRTD14) JBTS23 [HSA:9786] [KO:K22865]
(SRTD15) DYNC2LI1 [HSA:51626] [KO:K10417]
(SRTD16) IFT52 [HSA:51098] [KO:K19681]
(SRTD17) DYNLT2B [HSA:255758] [KO:K22866]
(SRTD18) IFT43 [HSA:112752] [KO:K19675]
(SRTD19) IFT81 [HSA:28981] [KO:K19677]
(SRTD20) INTU [HSA:27152] [KO:K22862]
(SRTD21) JBTS38 [HSA:9851] [KO:K21765]
H02158 Weyers acrofacial dysostosis
Curry-Hall syndrome 		... nail dystrophy, postaxial polydactyly, and mild short stature. It is caused by mutations in EVC1 or EVC2 genes. Both EVC1 and EVC2 localize to the basal bodies of primary cilia and play a role in hedgehog ... Congenital malformation EVC1 [HSA:2121] [KO:K19605]
EVC2 [HSA:132884] [KO:K19608]
H02167 Lymphedema-distichiasis syndrome ... disorder, characterized by late childhood or pubertal onset lymphedema of the limbs and double row of eyelashes. LD has been reported to be caused by mutations in the forkhead transcription factor, FOXC2. Congenital malformation FOXC2 [HSA:2303] [KO:K09396]
H02191 Noonan-like syndrome with loose anagen hair ... characteristic feature is the hair anomaly, including easily pluckable, sparse, thin, slow growing. NSLH is caused by the mutations in SHOC2. Recently, the novel NSLH with mutations in PPP1CB has been identified. Congenital malformation (NSLH1) SHOC2 [HSA:8036] [KO:K19613]
(NSLH2) PPP1CB [HSA:5500] [KO:K06269]
H02192 Benign recurrent intrahepatic cholestasis ... genes, which are the same as in progressive familial intrahepatic cholestasis 1 and 2 (PFIC1 and PFIC2), and probably in at least one other as yet unidentified gene. While PFIC starts in infancy or early ... Digestive system disease (BRIC1) ATP8B1 [HSA:5205] [KO:K01530]
(BRIC2) ABCB11 [HSA:8647] [KO:K05664]
H02246 Ehlers-Danlos syndrome musculocontractural type Ehlers-Danlos syndrome musculocontractural type (EDSMC) is an autosomal recessive disorder characterized by connective tissue fragility, craniofacial abnormalities, congenital contractures, and developmental ... Congenital malformation (EDSMC1) CHST14 [HSA:113189] [KO:K08105]
(EDSMC2) DSE [HSA:29940] [KO:K01794]
H02251 Cerebroretinal microangiopathy with calcifications and cysts
Coats plus syndrome 		Cerebroretinal microangiopathy with calcifications and cysts (CRMCC), also known as Coats plus syndrome, is a rare and highly pleiotropic disorder particularly affecting the eye, brain, bone and gastrointestinal ... Nervous system disease (CRMCC1) CTC1 [HSA:80169] [KO:K23311]
(CRMCC2) STN1 [HSA:79991] [KO:K23312]
(CRMCC3) POT1 [HSA:25913] [KO:K11109]
H02299 Arthrogryposis multiplex congenita Arthrogryposis multiplex congenita (AMC) is a group of disorders characterized by non-progressive joint contractures from birth. There are various etiologies for AMC including genetic and environmental ... Congenital malformation (AMC1) LGI4 [HSA:163175] [KO:K25430]
(AMC2) ERGIC1 [HSA:57222] [KO:K20365]
(AMC3) SYNE1 [HSA:23345] [KO:K19326]
(AMC4) SCYL2 [HSA:55681] [KO:K17541]
(AMC5) TOR1A [HSA:1861] [KO:K22990]
(AMC6) NEB [HSA:4703] [KO:K18267]
H02304 Combined D-2- and L-2-hydroxyglutaric aciduria ... epileptic encephalopathy, absence of developmental progress, and often early death. Recessive mutations in SLC25A1, the mitochondrial citrate carrier, have been reported in individuals with D,L-2-HGA. Inherited metabolic disorder SLC25A1 [HSA:6576] [KO:K15100]
H02307 Muscular dystrophy-dystroglycanopathy Muscular dystrophies due to reduced glycosylation of alpha-dystroglycan have emerged as a common group of conditions, now referred to as dystroglycanopathies. The phenotypic severity of dystroglycanopathy ... Inherited metabolic disorder POMT1 [HSA:10585] [KO:K00728]
POMT2 [HSA:29954] [KO:K00728]
POMGNT1 [HSA:55624] [KO:K09666]
FKTN [HSA:2218] [KO:K19872]
FKRP [HSA:79147] [KO:K19873]
LARGE [HSA:9215] [KO:K09668]
ISPD [HSA:729920] [KO:K21031]
GTDC2 [HSA:84892] [KO:K18207]
DAG1 [HSA:1605] [KO:K06265]
TMEM5 [HSA:10329] [KO:K21052]
B3GALNT2 [HSA:148789] [KO:K09654]
POMK [HSA:84197] [KO:K17547]
B3GNT1 [HSA:11041] [KO:K21032]
GMPPB [HSA:29925] [KO:K00966]
H02310 Renal tubular acidosis Renal tubular acidosis (RTA) is characterized by metabolic acidosis, a severe disturbance of extracellular pH homeostasis, due to renal impaired acid excretion. RTA can be subcategorized into different ... Urinary system disease (type 1) SLC4A1 [HSA:6521] [KO:K06573]
(type 1) ATP6V1B1 [HSA:525] [KO:K02147]
(type 1) ATP6V0A4 [HSA:50617] [KO:K02154]
(type 2) SLC4A4 [HSA:8671] [KO:K13575]
(type 3) CA2 [HSA:760] [KO:K18245]
(type 4) SCNN1A [HSA:6337] [KO:K04824]
(type 4) SCNN1B [HSA:6338] [KO:K04825]
(type 4) SCNN1G [HSA:6340] [KO:K04827]
(type 4) NR3C2 [HSA:4306] [KO:K08555]
(type 4) WNK1 [HSA:65125] [KO:K08867]
(type 4) WNK4 [HSA:65266] [KO:K08867]
(type 4) KLHL3 [HSA:26249] [KO:K10443]
(type 4) CUL3 [HSA:8452] [KO:K03869]
H02348 Dentin dysplasia Dentin dysplasia (DD/DTDP) is a rare hereditary disturbance of dentin formation. Dentin dysplasia is divided into two main classes based on the clinical and radiographic appearance, type I (DD1/DTDP1) ... Congenital malformation (DTDP1) SMOC2 [HSA:64094] [KO:K24354]
(DTDP2) DSPP [HSA:1834] [KO:K23573]
H02371 Intellectual developmental disorder with autism and speech delay Intellectual developmental disorder with autism and speech delay is the autistic-spectrum-disorder. Some of them have complications in addition to autism and speech delay. Several underlying genetic causes ... Mental and behavioural disorder (IDDAS) TBR1 [HSA:10716] [KO:K10174]
(IDDALDS) TANC2 [HSA:26115] [KO:K26456]
(IDDADF) PDZD8 [HSA:118987] [KO:K24060]
(IDDLA) FOXP1 [HSA:27086] [KO:K23582]
(WHSUS) POGZ [HSA:23126] [KO:K22594]
H02398 COVID-19
Coronavirus disease 2019 		... coronavirus 2 (SARS-CoV-2). SARS-CoV-2 infects alveolar epithelial cells [mainly alveolar epithelial type 2 (AEC2) cells] through the angiotensin-converting enzyme 2 (ACE2) receptor. Upon the occupancy of ACE2 by ... Viral infectious disease hsa05171 Coronavirus disease - COVID-19
H02422 Retinitis pigmentosa with skeletal anomalies ... stature, and neurological defects. It has been reported that defects in spliceosome-associated protein CWC27 are associated with a spectrum of disease phenotypes ranging from isolated retinitis pigmentosa to ... Congenital malformation CWC27 [HSA:10283] [KO:K12737]
H02446 Autosomal recessive macrocephaly/megalencephaly syndrome ... intellectual disability, macro crania, and megalencephaly. Mutations in TBC1D7 were reported in patients. TBC1D7 forms a complex with TSC1 and TSC2 that inhibits mTORC1 signaling and limits cell growth. Congenital malformation TBC1D7 [HSA:51256] [KO:K20396]
H02466 Rajab interstitial lung disease with brain calcification Rajab interstitial lung disease with brain calcification (RILDBC) is severe growth restriction with combined brain, liver and lung involvement. Mutations in genes encoding phenylalanyl-tRNA synthetases ... Respiratory system disease (RILDBC1) FARSB [HSA:10056] [KO:K01890]
(RILDBC2) FARSA [HSA:2193] [KO:K01889]
H02472 Early-onset progressive encephalopathy ... Early-onset progressive encephalopathy with episodic rhabdomyolysis (PEERB) is caused by mutations in TRAPPC2L. Both TRAPPC2L and TRAPPC12 are members of the TRAPP protein complex, which functions in membrane ... Nervous system disease (PEBAS) TRAPPC12 [HSA:51112] [KO:K20309]
(PEERB) TRAPPC2L [HSA:51693] [KO:K20301]
H02477 Cohen-Gibson syndrome ... syndrome caused by mutations in EED. Patients are with overgrowth, facial dysmorphism and intellectual disability. EED is a member of the polycomb repressive complex 2 (PRC2) that maintains gene silencing. Congenital malformation EED [HSA:8726] [KO:K11462]
H02480 Fontaine progeroid syndrome ... characterized by early aging, bone dysplasia, characteristic face, and early demise. Mutations in SLC25A24, that encodes for calcium-binding mitochondrial carrier protein, cause FPS. Formerly, FPS was ... Congenital malformation SLC25A24 [HSA:29957] [KO:K14684]
H02481 Syndromic disorder with short stature Short stature is one of the major components of many dysmorphic syndromes. Growth failure may be due to a wide variety of mechanisms, either related to the growth hormone (GH) or to underlying unknown ... Congenital malformation (SAMS) GSC [HSA:145258] [KO:K09324]
(SBIDDS) PRMT7 [HSA:54496] [KO:K11438]
(SIMHA) ZNF407 [HSA:55628] [KO:K26729]
(SOFT) POC1A [HSA:25886] [KO:K16482]
(SOFM) POLR3GL [HSA:84265] [KO:K03024]
(SOPH) NBAS [HSA:51594] [KO:K20473]
(SRMMD) ARCN1 [HSA:372] [KO:K20471]
(SSASKS) SLC10A7 [HSA:84068] [KO:K14347]
(SSFSC1) BMP2 [HSA:650] [KO:K21283]
(SSFSC2) SCUBE3 [HSA:222663] [KO:K24468]
H02497 Smith-McCort dysplasia Smith-McCort dysplasia (SMC) is a rare autosomal recessive spondylo-epimetaphyseal dysplasia with skeletal features identical to those of Dyggve-Melchior-Clausen disease [DS:H00757] but with normal intelligence ... Congenital malformation (SMC1) DYM [HSA:54808] [KO:K23951]
(SMC2) RAB33B [HSA:83452] [KO:K07920]
H02522 Imagawa-Matsumoto syndrome ... very rare overgrowth syndrome that resembles Weaver syndrome [DS:H01751]. Mutations in SUZ12 cause this disease. SUZ12 is a core component of polycomb repressive complex 2 (PRC2) along with EZH2 and EED. Congenital malformation SUZ12 [HSA:23512] [KO:K11463]
H02529 Bone marrow failure syndrome Bone marrow failure syndromes are a heterogeneous group of life-threatening disorders characterized by the inability of the bone marrow to make an adequate number of mature blood cells. Hematologic disease (BMFS1) SRP72 [HSA:6731] [KO:K03108]
(BMFS2) ERCC6L2 [HSA:375748] [KO:K20098]
(BMFS3) DNAJC21 [HSA:134218] [KO:K09506]
(BMFS4) MYSM1 [HSA:114803] [KO:K11865]
(BMFS5) TP53 [HSA:7157] [KO:K04451]
(BMFS6) MDM4 [HSA:4194] [KO:K10127]
(BMFS7) ADH5 [HSA:128] [KO:K00121]
(BMFS8) SLC30A7 [HSA:148867] [KO:K14692]
(BMFDMS) DUT [HSA:1854] [KO:K01520]
H02530 Hereditary prostate cancer Hereditary prostate cancer (HPC) has been used to characterize families with a particularly strong history of prostate cancer and includes those families with either: three or more affected first-degree ... Cancer (HPC1) RNASEL [HSA:6041] [KO:K01165]
(HPC2) ELAC2 [HSA:60528] [KO:K00784]
(HPC9) HOXB13 [HSA:10481] [KO:K09298]
(HPC12) EHBP1 [HSA:23301] [KO:K25572]
(HPC13) MSMB [HSA:4477] [KO:K25684]
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