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Entry Name Description Category Pathway Gene
H01211 MECP2-related severe neonatal encephalopathy MECP2-related severe neonatal encephalopathy is a rare disorder of males characterized by a static encephalopathy, severe developmental delays, hypotonia, seizures, and respiratory abnormalities that often ... Congenital malformation MECP2 [HSA:4204] [KO:K11588]
H01282 Spermatogenic failure Spermatogenic failure is reflected in a lower or absent production of spermatozoa and is described by routine semen analysis using terms such as azoospermia, oligozoospermia, teratozoospermia or asthenozoospermia ... Reproductive system disease (SPGF1) SYCP2 [HSA:10388] [KO:K19529]
(SPGF3) SLC26A8 [HSA:116369] [KO:K14705]
(SPGF4) SYCP3 [HSA:50511] [KO:K19528]
(SPGF5) AURKC [HSA:6795] [KO:K11480]
(SPGF6) SPATA16 [HSA:83893] [KO:K26121]
(SPGF7) CATSPER1 [HSA:117144] [KO:K16889]
(SPGF8) NR5A1 [HSA:2516] [KO:K08560]
(SPGF9) DPY19L2 [HSA:283417] [KO:K24553]
(SPGF10) SEPTIN12 [HSA:124404] [KO:K16938]
(SPGF11) KLHL10 [HSA:317719] [KO:K10448]
(SPGF12) NANOS1 [HSA:340719] [KO:K18741]
(SPGF13) TAF4B [HSA:6875] [KO:K03129]
(SPGF14) ZMYND15 [HSA:84225] [KO:K24081]
(SPGF15) SYCE1 [HSA:93426] [KO:K19534]
(SPGF16) SUN5 [HSA:140732] [KO:K21876]
(SPGF17) PLCZ1 [HSA:89869] [KO:K05861]
(SPGF18) DNAH1 [HSA:25981] [KO:K10408]
(SPGF19) CFAP43 [HSA:80217] [KO:K24223]
(SPGF20) CFAP44 [HSA:55779] [KO:K24224]
(SPGF21) BRDT [HSA:676] [KO:K11724]
(SPGF22) MEIOB [HSA:254528] [KO:K22420]
(SPGF23) TEX14 [HSA:56155] [KO:K17540]
(SPGF24) CFAP69 [HSA:79846] [KO:K24227]
(SPGF25) TEX15 [HSA:56154] [KO:K25680]
(SPGF26) TSGA10 [HSA:80705] [KO:K25632]
(SPGF27) AK7 [HSA:122481] [KO:K00939]
(SPGF28) FANCM [HSA:57697] [KO:K10896]
(SPGF29) SPINK2 [HSA:6691] [KO:K23418]
(SPGF30) TDRD9 [HSA:122402] [KO:K18408]
(SPGF31) PMFBP1 [HSA:83449] [KO:K23223]
(SPGF32) SOHLH1 [HSA:402381] [KO:K22495]
(SPGF33) CFAP251 [HSA:144406] [KO:K24228]
(SPGF34) FSIP2 [HSA:401024] [KO:K26675]
(SPGF35) QRICH2 [HSA:84074] [KO:K24298]
(SPGF36) PPP2R3C [HSA:55012] [KO:K11583]
(SPGF37) TTC21A [HSA:199223] [KO:K24178]
(SPGF38) ARMC2 [HSA:84071] [KO:K24123]
(SPGF39) DNAH17 [HSA:8632] [KO:K10408]
(SPGF40) CFAP65 [HSA:255101] [KO:K24226]
(SPGF41) CFAP70 [HSA:118491] [KO:K24932]
(SPGF42) TTC29 [HSA:83894] [KO:K24937]
(SPGF43) SPEF2 [HSA:79925] [KO:K25615]
(SPGF44) CEP112 [HSA:201134] [KO:K16767]
(SPGF45) DNAH2 [HSA:146754] [KO:K10408]
(SPGF46) DNAH8 [HSA:1769] [KO:K10408]
(SPGF47) DZIP1 [HSA:22873] [KO:K16470]
(SPGF48) M1AP [HSA:130951] [KO:K26106]
(SPGF49) CFAP58 [HSA:159686] [KO:K25554]
(SPGF50) XRCC2 [HSA:7516] [KO:K10879]
(SPGF51) CFAP91 [HSA:89876] [KO:K25461]
(SPGF52) C14orf39 [HSA:317761] [KO:K25705]
(SPGF53) ACTL9 [HSA:284382]
(SPGF54) CATIP [HSA:375307] [KO:K25788]
(SPGF55) SPAG17 [HSA:200162] [KO:K25533]
(SPGF56) DNAH10 [HSA:196385] [KO:K10408]
(SPGF57) PNLDC1 [HSA:154197] [KO:K01148]
(SPGF58) IFT74 [HSA:80173] [KO:K19679]
(SPGF59) TERB2 [HSA:145645] [KO:K25750]
(SPGF60) TERB1 [HSA:283847] [KO:K25749]
(SPGF61) STAG3 [HSA:10734] [KO:K13055]
(SPGF62) RNF212 [HSA:285498] [KO:K25662]
(SPGF63) RPL10L [HSA:140801] [KO:K02866]
(SPGF64) FBXO43 [HSA:286151] [KO:K10318]
(SPGF65) DNHD1 [HSA:144132] [KO:K26555]
(SPGF66) ZPBP [HSA:11055] [KO:K25752]
(SPGF67) CCDC62 [HSA:84660] [KO:K26436]
(SPGF68) C2CD6 [HSA:151254] [KO:K25947]
(SPGF69) GGN [HSA:199720] [KO:K26807]
(SPGF70) PDHA2 [HSA:5161] [KO:K00161]
(SPGF71) ZSWIM7 [HSA:125150] [KO:K25770]
(SPGF72) WDR19 [HSA:57728] [KO:K19671]
(SPGF73) MOV10L1 [HSA:54456] [KO:K13983]
(SPGF74) MSH5 [HSA:4439] [KO:K08741]
(SPGF75) SHOC1 [HSA:158401]
(SPGF76) CCDC34 [HSA:91057] [KO:K16753]
(SPGF77) FKBP6 [HSA:8468] [KO:K09572]
(SPGF78) IQCN [HSA:80726] [KO:K26737]
(SPGF79) KCNU1 [HSA:157855] [KO:K05274]
(SPGF80) DRC1 [HSA:92749] [KO:K19754]
(SPGF81) TEKT3 [HSA:64518] [KO:K18630]
(SPGF82) AKAP3 [HSA:10566] [KO:K16520]
(SPGF83) DNALI1 [HSA:7802] [KO:K10410]
(SPGF84) CFAP61 [HSA:26074] [KO:K25460]
(SPGF85) SPACA1 [HSA:81833] [KO:K25513]
(SPGF86) ACTL7A [HSA:10881]
(SPGF87) ACR [HSA:49] [KO:K01317]
(SPGF88) KASH5 [HSA:147872] [KO:K22595]
(SPGF89) AK9 [HSA:221264] [KO:K18533]
(SPGF90) ARMC12 [HSA:221481] [KO:K24168]
(SPGFX2) TEX11 [HSA:56159] [KO:K24574]
(SPGFX3) CFAP47 [HSA:286464] [KO:K25552]
(SPGFX4) GCNA [HSA:93953] [KO:K26957]
(SPGFX5) SSX1 [HSA:6756] [KO:K15624]
(SPGFX6) USP26 [HSA:83844] [KO:K11850]
(SPGFX7) CT55 [HSA:54967] [KO:K25478]
H01353 Chromobacterium violaceum infection ... abscess and diarrhea. Recent findings indicate that the type III secretion system (T3SS) encoded by Chromobacterium pathogenicity islands 1 and 1a (Cpi-1/-1a) is critical for C. violaceum pathogenesis. Bacterial infectious disease
H01398 Primary hyperammonemia (Urea cycle disorders) Hyperammonemia is a metabolic condition characterized by elevated levels of ammonia in the blood, and may result in irreversible brain damage if not treated early and thoroughly. Hyperammonemia can be ... Inherited metabolic disorder NAGS [HSA:162417] [KO:K11067]
CPS1 [HSA:1373] [KO:K01948]
OTC [HSA:5009] [KO:K00611]
ASS1 [HSA:445] [KO:K01940]
ASL [HSA:435] [KO:K01755]
ARG1 [HSA:383] [KO:K01476]
SLC25A15 [HSA:10166] [KO:K15101]
SLC25A13 [HSA:10165] [KO:K15105]
H01400 Secondary hyperammonemia Hyperammonemia is a metabolic condition characterized by elevated levels of ammonia in the blood, and may result in irreversible brain damage if not treated early and thoroughly. Hyperammonemia can be ... Inherited metabolic disorder MMUT [HSA:4594] [KO:K01847]
PCCA [HSA:5095] [KO:K01965]
PCCB [HSA:5096] [KO:K01966]
IVD [HSA:3712] [KO:K00253]
ACADM [HSA:34] [KO:K00249]
ETFDH [HSA:2110] [KO:K00311]
ETFA [HSA:2108] [KO:K03522]
ETFB [HSA:2109] [KO:K03521]
CPT2 [HSA:1376] [KO:K08766]
SLC25A20 [HSA:788] [KO:K15109]
SLC7A7 [HSA:9056] [KO:K13867]
ALDH18A1 [HSA:5832] [KO:K12657]
PC [HSA:5091] [KO:K01958]
OAT [HSA:4942] [KO:K00819]
CA5A [HSA:763] [KO:K01672]
GLUD1 [HSA:2746] [KO:K00261]
TMEM70 [HSA:54968] [KO:K17966]
GLUL [HSA:2752] [KO:K01915]
H01434 Atypical hemolytic uremic syndrome The haemolytic uraemic syndrome (HUS) is characterized by the triad of thrombocytopenia, microangiopathic haemolytic anaemia and acute renal failure. HUS may be classified as either diarrhoeal-associated ... Hematologic disease (AHUS1) CFH [HSA:3075] [KO:K04004]
(AHUS1) CFHR3 [HSA:10878] [KO:K23815]
(AHUS1) CFHR1 [HSA:3078] [KO:K23815]
(AHUS2) CD46, MCP [HSA:4179] [KO:K04007]
(AHUS3) CFI, IF [HSA:3426] [KO:K01333]
(AHUS4) CFB [HSA:629] [KO:K01335]
(AHUS5) C3 [HSA:718] [KO:K03990]
(AHUS6) THBD [HSA:7056] [KO:K03907]
H01521 Pneumocystis pneumonia
Pneumocystis carinii pneumonia 		Pneumocystis pneumonia (PCP) is an infectious disease caused by Pneumocystis jirovecii that belongs to the genus Pneumocystis. Members of the genus Pneumocystis are unicellular, eukaryotic organisms that ... Fungal infectious disease
H01526 Legg-Calve-Perthes Disease Legg-Calve-Perthes disease (LCPD) is a particular type of femoral head necrosis occurring in children. It is more common among boys, and bilateral involvement occurs in 8-24% of cases. The disease is usually ... Musculoskeletal disease COL2A1 [HSA:1280] [KO:K19719]
H01555 Merkel cell carcinoma ... some MCC cell lines. Recently, the polyomavirus group has been linked with MCC. The MCC polyomavirus (MCPyV) has been isolated from MCC tissue and thought to be present in up to 80% of MCC. Tumorigenesis ... Cancer TP53 (mutation) [HSA:7157] [KO:K04451]
Ha-RAS (mutation) [HSA:3265] [KO:K02833]
H01576 Spondyloenchondrodysplasia with immune dysregulation (SPENCDI)
Spondyloenchondrodysplasia (SPENCD) 		... Furthermore, patients may also suffer from recurrent infections. SPENCD is caused by biallelic mutations in ACP5, encoding tartrate-resistant acid phosphatase (TRAP). Affected individuals displayed an absence of ... Congenital malformation ACP5 [HSA:54] [KO:K14379]
H01678 Dandy-Walker syndrome ... managements of DWS have been reported from open excision of the cysts to CSF diversion. Ventriculoperitoneal (VP) and cystoperitoneal (CP) shunt insertion are the most common choices in the treatment of DWS. Congenital malformation ZIC1 [HSA:7545] [KO:K09224]
ZIC4 [HSA:84107] [KO:K09225]
H01715 Obesity hypoventilation syndrome
Pickwickian Syndrome 		... Patients with untreated OHS have a significant risk of death. While continuous positive airway pressure (CPAP) treatments may temporize cardiopulmonary disease progression, simultaneous pursuit of weight reduction ... Respiratory system disease
H01763 Porphyria ... (ADP), acute intermittent porphyria (AIP), porphyria cutanea tarda (PCT), hereditary coproporphyria (HCP), and variegate porphyria (VP). Recently, a new type of erythroid porphyria, X-linked dominant protoporphyria ... Inherited metabolic disorder (EPP1) FECH [HSA:2235] [KO:K01772]
(EPP2) CLPX [HSA:10845] [KO:K03544]
(CEP) UROS [HSA:7390] [KO:K01719]
(HEP, PCT) UROD [HSA:7389] [KO:K01599]
(ADP) ALAD [HSA:210] [KO:K01698]
(AIP) HMBS [HSA:3145] [KO:K01749]
(HCP) CPOX [HSA:1371] [KO:K00228]
(VP) PPOX [HSA:5498] [KO:K00231]
(XLDPP) ALAS2 [HSA:212] [KO:K00643]
H01773 4p deletion syndrome
Wolf-Hirschhorn syndrome 		4p deletion syndrome, also known as Wolf-Hirschhorn syndrome (WHS), is a congenital disorder associated with various deformities. WHS is caused by deletion of the WHS critical resion (WHSCR) of chromosome ... Chromosomal abnormality CPLX1 [HSA:10815] [KO:K15294]
CTBP1 [HSA:1487] [KO:K04496]
FGFRL1 [HSA:53834] [KO:K26107]
LETM1 [HSA:3954] [KO:K17800]
NSD2 [HSA:7468] [KO:K11424]
H01878 Al-Raqad syndrome ... cardiac anomalies. Its genetic etiology can be attributed to homozygous loss-of-function alleles in the DCPS gene. The DCPS protein is the scavenger mRNA decapping enzyme which functions in the last step of ... Congenital malformation DCPS [HSA:28960] [KO:K12584]
H01880 Autosomal recessive microcephaly and chorioretinopathy Autosomal-recessive microcephaly and chorioretinopathy (MCCRP) is a rare developmental disorder characterized by primary microcephaly, delayed psychomotor development, growth retardation with dwarfism ... Congenital malformation (MCCRP1) TUBGCP6 [HSA:85378] [KO:K16573]
(MCCRP2) PLK4 [HSA:10733] [KO:K08863]
(MCCRP3) TUBGCP4 [HSA:27229] [KO:K16571]
H01921 MICPCH syndrome
Syndromic X-linked mental retardation, Najm type 		Microcephaly with pontine and cerebellar hypoplasia (MICPCH) syndrome is a rare X-linked mental retardation syndrome, generally seen in girls, characterized by severe neurodevelopmental delay, microcephaly ... Congenital malformation CASK [HSA:8573] [KO:K06103]
H01981 Carnitine palmitoyltransferase I deficiency Carnitine palmitoyltransferase 1 (CPT1) deficiency is a rare autosomal recessive disorder of mitochondrial fatty acid oxidation. CPT1 controls the import of long-chain fatty acids into the mitochondria ... Inherited metabolic disorder, Mitochondrial disease CPT1A [HSA:1374] [KO:K08765]
H01982 Carnitine palmitoyltransferase II deficiency Carnitine palmitoyltransferase II (CPT2) deficiency is an inherited disorder of mitochondrial long-chain fatty-acid oxidation. Three distinct clinical manifestations of CPT2 deficiency have been defined ... Inherited metabolic disorder, Mitochondrial disease CPT2 [HSA:1376] [KO:K08766]
H02018 Central precocious puberty Central precocious puberty is caused by early maturation of the hypothalamic-pituitary-gonadal axis. Recently, kisspeptin receptor (KISS1R) and its ligand, kisspeptin, were described as an excitatory neuroregulator ... Endocrine and metabolic disease (CPPB1) KISS1R [HSA:84634] [KO:K08374]
(CPPB2) MKRN3 [HSA:7681] [KO:K15687]
H02031 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia ... progressive degeneration of muscle, brain, motor neurons and bone. Some cases are caused by mutations in the VCP gene, which encodes the AAA+ ATPase, a ubiquitin-dependent segregase. Recently, pathogenic mutations ... Nervous system disease; Musculoskeletal disease (IBMPFD1) VCP [HSA:7415] [KO:K13525] [K13525]
(IBMPFD2) HNRNPA2B1 [HSA:3181] [KO:K13158]
(IBMPFD3) HNRNPA1 [HSA:3178] [KO:K12741]
H02036 Combined pituitary hormone deficiency Combined pituitary hormone deficiency (CPHD) is a rare disorder that is characterized by the impaired production of growth hormone (GH) and one or more other pituitary hormones. Currently reported genes ... Endocrine and metabolic disease (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) RNPC3 [HSA:55599] [KO:K13157]
(CPHD8) ROBO1 [HSA:6091] [KO:K06753]
H02041 Myopia Myopia is the most common ocular disorder worldwide, and high myopia in particular is one of the leading causes of blindness. Nonsyndromic, high myopia is highly heritable, and to date a few causative ... Nervous system disease (MYP6) SCO2 [HSA:9997] [KO:K23755]
(MYP21) ZNF644 [HSA:84146] [KO:K24374]
(MYP22) PRIMPOL [HSA:201973] [KO:K22761]
(MYP23) LRPAP1 [HSA:4043] [KO:K22290]
(MYP24) SLC39A5 [HSA:283375] [KO:K14711]
(MYP25) P4HA2 [HSA:8974] [KO:K00472]
(MYP26) ARR3 [HSA:407] [KO:K13801]
(MYP27) CPSF1 [HSA:29894] [KO:K14401]
(MYP28) LOXL3 [HSA:84695] [KO:K00280]
(MCVD) P3H2 [HSA:55214] [KO:K22459]
H02106 Genetic obesity Obesity predisposes to many diseases. It has a very heterogeneous phenotypic expression and the molecular mechanisms involved in its development are diverse. Although environmental factors are important ... Endocrine and metabolic disease NR0B2 [HSA:8431] [KO:K08563]
SDC3 [HSA:9672] [KO:K16337]
POMC [HSA:5443] [KO:K05228]
GHRL [HSA:51738] [KO:K05254]
PPARG [HSA:5468] [KO:K08530]
CARTPT [HSA:9607] [KO:K25453]
PPARGC1B [HSA:133522] [KO:K17962]
ENPP1 [HSA:5167] [KO:K01513]
ADRB2 [HSA:154] [KO:K04142]
ADRB3 [HSA:155] [KO:K04143]
AGRP [HSA:181] [KO:K05231]
UCP1 (polymorphism) [HSA:7350] [KO:K08769]
UCP3 [HSA:7352] [KO:K15103]
(BMIQ4) UCP2 [HSA:7351] [KO:K15103]
(BMIQ9) MC3R [HSA:4159] [KO:K04201]
(BMIQ10) FFAR4 [HSA:338557] [KO:K08425]
(BMIQ11) SLC6A14 [HSA:11254] [KO:K05047]
(BMIQ12) PCSK1 [HSA:5122] [KO:K01359]
(BMIQ14) FTO [HSA:79068] [KO:K19469]
(BMIQ17) AQP7 [HSA:364] [KO:K08771]
(BMIQ18) MRAP2 [HSA:112609] [KO:K25968]
(BMIQ19) ADCY3 [HSA:109] [KO:K08043]
(BMIQ20) MC4R [HSA:4160] [KO:K04202]
H02111 Autism
Autistic spectrum disorder
Pervasive developmental disorder 		Autism, also known as autistic spectrum disorder (ASD), is a common childhood onset neurodevelopmental disorder, characterised by severe deficits in socialisation, communication, and repetitive or unusual ... Mental and behavioural disorder (AUTS15) CNTNAP2 [HSA:26047] [KO:K07380]
(AUTS16) SLC9A9 [HSA:285195] [KO:K14725]
(AUTS17) SHANK2 [HSA:22941] [KO:K15009]
(AUTS18) CHD8 [HSA:57680] [KO:K04494]
(AUTS19) EIF4E [HSA:1977] [KO:K03259]
(AUTS20) NLGN1 [HSA:22871] [KO:K07378]
(AUTSX1) NLGN3 [HSA:54413] [KO:K07378]
(AUTSX2) NLGN4X [HSA:57502] [KO:K07378]
(AUTSX3) MECP2 [HSA:4204] [KO:K11588]
(AUTSX4) PTCHD1 [HSA:139411] [KO:K24682]
(AUTSX5) RPL10 [HSA:6134] [KO:K02866]
(AUTSX6) TMLHE [HSA:55217] [KO:K00474]
H02132 Microcephaly syndrome Microcephaly is defined as an occipitofrontal circumference (OFC) 2 or more standard deviations below the mean for age and sex. Microcephaly may be associated with other anomalies, which is termed microcephaly ... Congenital malformation (MCPHSBA) MED17 [HSA:9440] [KO:K15133]
(MSCCA) QARS [HSA:5859] [KO:K01886]
(MCCPD) MSMO1 [HSA:6307] [KO:K07750]
(MEDS1) IER3IP1 [HSA:51124] [KO:K22939]
(MEDS2) YIPF5 [HSA:81555] [KO:K20363]
(MIMIS) DONSON [HSA:29980] [KO:K22422]
(MSSP) RTTN [HSA:25914] [KO:K16484]
(MFRG) CTU2 [HSA:348180] [KO:K14169]
(MCIDDS) KCNA4 [HSA:3739] [KO:K04877]
(MIGSB) WDR4 [HSA:10785] [KO:K15443]
(MDBH) CARS1 [HSA:833] [KO:K01883]
H02161 Greig cephalopolysyndactyly syndrome Greig cephalopolysyndactyly syndrome (GCPS) is a multiple congenital anomaly syndrome. The clinical findings include hypertelorism, macrocephaly with frontal bossing, and polysyndactyly. GCPS is caused ... Congenital malformation GLI3 [HSA:2737] [KO:K06230]
H02193 Intrahepatic cholestasis of pregnancy
Obstetric cholestasis 		Intrahepatic cholestasis of pregnancy (ICP), also called obstetric cholestasis, is the most common pregnancy-specific liver disease. Classic symptoms include generalized pruritus that commonly includes ... Digestive system disease (ICP1) ATP8B1 [HSA:5205] [KO:K01530]
(ICP3) ABCB4 [HSA:5244] [KO:K05659]
H02206 Aceruloplasminemia
Ceruloplasmin deficiency 		Aceruloplasminemia (ACP) is an autosomal recessive disorder associated with severe iron deposition in visceral organ and brain tissues. The clinical symptoms are progressive dementia, extrapyramidal disorders ... Nervous system disease CP [HSA:1356] [KO:K13624]
H02260 Chondrodysplasia Chassaing-Lacombe type
Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 		... as chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia (CPBHM). It is caused by mutations in HDAC6 and inherited as an X-linked dominant trait. HDAC6 is a deacetylase ... Congenital malformation HDAC6 [HSA:10013] [KO:K11407]
H02342 Frontotemporal dementia and amyotrophic lateral sclerosis Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are genetically heterogeneous disorders. Mutations in the several genes and a repeat expansion in the C9orf72 gene have been reported ... Nervous system disease (FTDALS1) C9orf72 [HSA:203228] [KO:K23609]
(FTDALS2) CHCHD10 [HSA:400916] [KO:K22759]
(FTDALS3) SQSTM1 [HSA:8878] [KO:K14381]
(FTDALS4) TBK1 [HSA:29110] [KO:K05410]
(FTDALS5) CCNF [HSA:899] [KO:K10289]
(FTDALS6) VCP [HSA:7415] [KO:K13525]
(FTDALS7) CHMP2B [HSA:25978] [KO:K12192]
(FTDALS8) CYLD [HSA:1540] [KO:K08601]
H02351 Cowpox Human cowpox is a rare zoonotic infectious disease caused by cowpox virus (CPXV), an orthopoxvirus in the Poxviridae family of dsDNA viruses. CPXV can infect a broad range of hosts. Natural reservoir hosts ... Viral infectious disease
H02367 Chorea, childhood-onset, with psychomotor retardation Chorea, childhood-onset, with psychomotor retardation (COCPMR) is a familial developmental disorder characterized by chorea, marked speech delay, and learning difficulties. Mutations in GPR88 are associated ... Nervous system disease GPR88 [HSA:54112] [KO:K08422]
H02381 Cleft palate, psychomotor retardation, and distinctive facial features Cleft palate, psychomotor retardation, and distinctive facial features (CPRF) is a new genetic disorder that phenotypically resembles the Kabuki syndrome [DS:H00570] but with distinctive facial features ... Congenital malformation KDM1A [HSA:23028] [KO:K11450]
H02394 Cleft palate, cardiac defects, and mental retardation Cleft palate, cardiac defects, and mental retardation (CPCMR) is characterized by atrial or ventricular septal defects, cleft palate, and variable developmental delays and intellectual disability. It has ... Congenital malformation MEIS2 [HSA:4212] [KO:K16670]
H02430 Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus (ACPHD) is an autosomal recessive disorder caused by loss-of-function mutations in DNAJC3. It encodes ER protein which ... Nervous system disease DNAJC3 [HSA:5611] [KO:K09523]
H02446 Autosomal recessive macrocephaly/megalencephaly syndrome Autosomal recessive macrocephaly/megalencephaly syndrome (MGCPH) is characterized by intellectual disability, macro crania, and megalencephaly. Mutations in TBC1D7 were reported in patients. TBC1D7 forms ... Congenital malformation TBC1D7 [HSA:51256] [KO:K20396]
H02455 Congenital heart defects, hamartomas of tongue, and polysyndactyly
Ostravik-Lindemann-Solberg syndrome 		... atrioventricular canal, hamartomas of the tongue, and polysyndactyly. CHDTHP patients with mutations in WDPCP have been identified. WDPCP is a gene that regulates planar cell polarity and ciliogenesis. Congenital malformation WDPCP [HSA:51057] [KO:K22863]
H02459 Syndromic neurodevelopmental disorder Syndromic neurodevelopmental disorder (NED) is a group of disorders that have a number of clinical features in addition to intellectual disability and developmental delay. Many genes that cause these syndromes ... Congenital malformation (NEDALVS) WASF1 [HSA:8936] [KO:K05753]
(NEDCPMD) NFASC [HSA:23114] [KO:K06757]
(NEDIDHA) DOCK3 [HSA:1795] [KO:K05727]
(NEDISHM) ZNF142 [HSA:7701] [KO:K24851]
(NEDSSWI) DHPS [HSA:1725] [KO:K00809]
(NEDMIAL) DHX30 [HSA:22907] [KO:K13185]
(NEDIES) NCDN [HSA:23154]
(NEDMOSBA) TMEM222 [HSA:84065] [KO:K20726]
(NEDSGO) TBC1D2B [HSA:23102] [KO:K20166]
(NEDEGE) NBEA [HSA:26960] [KO:K24183]
(NEDSOA) THUMPD1 [HSA:55623] [KO:K06963]
(NEDLBAS) AGO1 [HSA:26523] [KO:K11593]
(NEDLDS) TIAM1 [HSA:7074] [KO:K05731]
(NEDLC) GABBR1 [HSA:2550] [KO:K04615]
(NEDGBA) ATP9A [HSA:10079] [KO:K26679]
H02461 Neurodevelopmental disorder with microcephaly Neurodevelopmental disorder (NED) with microcephaly is a group of syndromic neurodevelopmental disorders. Most of them have complications in addition to microcephaly. Several underlying genetic causes ... Congenital malformation (NEDMEBA) TRAPPC6B [HSA:122553] [KO:K20304]
(NEDMCR) GEMIN4 [HSA:50628] [KO:K13132]
(NDMSBA) PLAA [HSA:9373] [KO:K14018]
(NEDMIBA) DYNC1I2 [HSA:1781] [KO:K10415]
(NEDMABA) SMPD4 [HSA:55627] [KO:K12353]
(NEDAHM) SVBP [HSA:374969] [KO:K23357]
(NEDMCMS) TMX2 [HSA:51075] [KO:K25112]
(NEDMEHM) MTHFS [HSA:10588] [KO:K01934]
(NMIHBA) PRUNE1 [HSA:58497] [KO:K01514]
(NEDHYMS) ADARB1 [HSA:104] [KO:K13194]
(NEDSEBA) EXOC7 [HSA:23265] [KO:K07195]
(NEDMISB) EXOC8 [HSA:149371] [KO:K19986]
(NEDSOSB) SEC31A [HSA:22872] [KO:K14005]
(NEDMSC) VPS50 [HSA:55610] [KO:K23288]
(NEDMHS) CPSF3 [HSA:51692] [KO:K14403]
(NEDMIMS) CHKA [HSA:1119] [KO:K14156]
(NEDMISS) TRAPPC10 [HSA:7109] [KO:K20307]
(NEDMVIC) DOHH [HSA:83475] [KO:K06072]
(NEDSMBA) PPFIBP1 [HSA:8496] [KO:K27096]
(NEDMIM) TTI1 [HSA:9675] [KO:K20403]
(NEDGS) PCDHGC4 [HSA:56098] [KO:K16497]
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