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Entry Name Description Category Pathway Gene
H00684 Pachyonychia congenita Pachyonychia congenita (PC) is a group of autosomal dominant skin disorders characterized by hypertrophic nail dystrophy accompanied by other features of ectodermal dysplasia, prominently painful palmoplantar ... Congenital malformation (PC1) KRT16 [HSA:3868] [KO:K07604]
(PC2) KRT17 [HSA:3872] [KO:K07604]
(PC3) KRT6A [HSA:3853] [KO:K07605]
(PC4) KRT6B [HSA:3854] [KO:K07605]
H00718 Sotos syndrome Overgrowth syndromes are a heterogeneous group of disorders resulting from the dysfunction of various processes involving cell proliferation, cell growth, or apoptosis. Within this group, Sotos syndrome ... Congenital malformation (SOTOS1) NSD1 [HSA:64324] [KO:K15588]
(SOTOS2) NFIX [HSA:4784] [KO:K09171]
(SOTOS3) APC2 [HSA:10297] [KO:K02085]
H00760 Spondyloepiphyseal dysplasia tarda X-linked spondyloepiphyseal dysplasia tarda is a rare osteochondrodysplasia characterized by disproportionately short stature with short trunk. The symptoms of this condition appear later in childhood ... Congenital malformation TRAPPC2 [HSA:6399] [KO:K20301]
H00768 Autosomal recessive intellectual developmental disorder
Autosomal recessive mental retardation 		Intellectual developmental disorder, formerly known as Mental retardation (MR), is a neurodevelopmental disorder characterized by low intelligence quotient (IQ) and deficits in adaptive behaviors. To date ... Mental and behavioural disorder (MRT1) PRSS12 [HSA:8492] [KO:K09624]
(MRT2) CRBN [HSA:51185] [KO:K11793]
(MRT3) CC2D1A [HSA:54862] [KO:K18260]
(MRT5) NSUN2 [HSA:54888] [KO:K15335]
(MRT6) GRIK2 [HSA:2898] [KO:K05202]
(MRT7) TUSC3 [HSA:7991] [KO:K19478]
(MRT12) ST3GAL3 [HSA:6487] [KO:K00781]
(MRT13) TRAPPC9 [HSA:83696] [KO:K20306]
(MRT14) TECR [HSA:9524] [KO:K10258]
(MRT15) MAN1B1 [HSA:11253] [KO:K23741]
(MRT18) MED23 [HSA:9439] [KO:K15166]
(MRT27) LINS1 [HSA:55180] [KO:K22533]
(MRT34) CRADD [HSA:8738] [KO:K02832]
(MRT36) ADAT3 [HSA:113179] [KO:K15442]
(MRT37) ANK3 [HSA:288] [KO:K09259]
(MRT38) HERC2 [HSA:8924] [KO:K10595]
(MRT39) TTI2 [HSA:80185] [KO:K23115]
(MRT40) TAF2 [HSA:6873] [KO:K03128]
(MRT41) KPTN [HSA:11133] [KO:K23295]
(MRT42) PGAP1 [HSA:80055] [KO:K05294]
(MRT43) WASHC4 [HSA:23325] [KO:K18465]
(MRT44) METTL23 [HSA:124512] [KO:K23151]
(MRT45) FBXO31 [HSA:79791] [KO:K10308]
(MRT46) NDST1 [HSA:3340] [KO:K02576]
(MRT47) FMN2 [HSA:56776] [KO:K02184]
(MRT48) SLC6A17 [HSA:388662] [KO:K05048]
(MRT49) GPT2 [HSA:84706] [KO:K00814]
(MRT50) EDC3 [HSA:80153] [KO:K12615]
(MRT51) HNMT [HSA:3176] [KO:K00546]
(MRT52) LMAN2L [HSA:81562] [KO:K10083]
(MRT53) PIGG [HSA:54872] [KO:K05310]
(MRT54) TNIK [HSA:23043] [KO:K08840]
(MRT55) PUS3 [HSA:83480] [KO:K01855]
(MRT56) ZC3H14 [HSA:79882] [KO:K23038]
(MRT57) MBOAT7 [HSA:79143] [KO:K13516]
(MRT58) ELP2 [HSA:55250] [KO:K11374]
(MRT59) IMPA1 [HSA:3612] [KO:K01092]
(MRT60) TAF13 [HSA:6884] [KO:K03127]
(MRT61) RUSC2 [HSA:9853] [KO:K23291]
(MRT62) PIGC [HSA:5279] [KO:K03859]
(MRT63) CAMK2A [HSA:815] [KO:K04515]
(MRT64) LINGO1 [HSA:84894] [KO:K23533]
(MRT65) KDM5B [HSA:10765] [KO:K11446]
(MRT66) C12orf4 [HSA:57102]
(MRT67) EIF3F [HSA:8665] [KO:K03249]
(MRT68) TRMT1 [HSA:55621] [KO:K00555]
(MRT69) ZBTB11 [HSA:27107] [KO:K10498]
(MRT70) RSRC1 [HSA:51319] [KO:K24594]
(MRT71) ALKBH8 [HSA:91801] [KO:K10770]
(MRT72) METTL5 [HSA:29081] [KO:K24418]
(MRT73) NAA20 [HSA:51126] [KO:K17972]
(MRT74) APC2 [HSA:10297] [KO:K02085]
(MRT75) PIDD1 [HSA:55367] [KO:K10130]
(MRT76) GRIA1 [HSA:2890] [KO:K05197]
(MRT77) CEP104 [HSA:9731] [KO:K16458]
(MRT78) WDR11 [HSA:55717] [KO:K24260]
(MRT79) TPR [HSA:7175] [KO:K09291]
(MRT80) CASP2 [HSA:835] [KO:K02186]
(MRT81) ASCC3 [HSA:10973] [KO:K18663]
(MRT82) NSUN6 [HSA:221078] [KO:K21971]
H00773 Autosomal dominant intellectual developmental disorder
Autosomal dominant mental retardation 		Intellectual developmental disorder, formerly known as Mental retardation (MR), is a neurodevelopmental disorder characterized by low intelligence quotient (IQ) and deficits in adaptive behaviors. Most ... Mental and behavioural disorder (MRD1) MBD5 [HSA:55777] [KO:K23219]
(MRD2) DOCK8 [HSA:81704] [KO:K21852]
(MRD3) CDH15 [HSA:1013] [KO:K06809]
(MRD4) KIRREL3 [HSA:84623] [KO:K25874]
(MRD5) SYNGAP1 [HSA:8831] [KO:K17631]
(MRD6) GRIN2B [HSA:2904] [KO:K05210]
(MRD7) DYRK1A [HSA:1859] [KO:K08825]
(MRD8) GRIN1 [HSA:2902] [KO:K05208]
(MRD9) KIF1A [HSA:547] [KO:K10392]
(MRD10) CACNG2 [HSA:10369] [KO:K04867]
(MRD11) EPB41L1 [HSA:2036] [KO:K23961]
(MRD12) ARID1B [HSA:57492] [KO:K11653]
(MRD13) DYNC1H1 [HSA:1778] [KO:K10413]
(MRD14) ARID1A [HSA:8289] [KO:K11653]
(MRD15) SMARCB1 [HSA:6598] [KO:K11648]
(MRD16) SMARCA4 [HSA:6597] [KO:K11647]
(MRD17) PACS1 [HSA:55690] [KO:K23290]
(MRD18) GATAD2B [HSA:57459] [KO:K23194]
(MRD19) CTNNB1 [HSA:1499] [KO:K02105]
(MRD20) MEF2C [HSA:4208] [KO:K04454]
(MRD21) CTCF [HSA:10664] [KO:K23195]
(MRD22) ZBTB18 [HSA:10472] [KO:K23196]
(MRD23) SETD5 [HSA:55209] [KO:K23216]
(MRD24) DEAF1 [HSA:10522] [KO:K23041]
(MRD25) AHDC1 [HSA:27245] [KO:K22592]
(MRD26) AUTS2 [HSA:26053] [KO:K23214]
(MRD27) SOX11 [HSA:6664] [KO:K09268]
(MRD29) SETBP1 [HSA:26040] [KO:K23217]
(MRD30) ZMYND11 [HSA:10771] [KO:K23218]
(MRD31) PURA [HSA:5813] [KO:K21772]
(MRD32) KAT6A [HSA:7994] [KO:K11305]
(MRD33) DPP6 [HSA:1804] [KO:K23013]
(MRD34) COL4A3BP [HSA:10087] [KO:K08283]
(MRD35) PPP2R5D [HSA:5528] [KO:K11584]
(MRD36) PPP2R1A [HSA:5518] [KO:K03456]
(MRD38) EEF1A2 [HSA:1917] [KO:K03231]
(MRD39) MYT1L [HSA:23040] [KO:K23193]
(MRD40) CHAMP1 [HSA:283489] [KO:K22593]
(MRD41) TBL1XR1 [HSA:79718] [KO:K04508]
(MRD42) GNB1 [HSA:2782] [KO:K04536]
(MRD43) HIVEP2 [HSA:3097] [KO:K09239]
(MRD44/63) TRIO [HSA:7204] [KO:K08810]
(MRD45) CIC [HSA:23152] [KO:K20225]
(MRD46) KCNQ5 [HSA:56479] [KO:K04930]
(MRD47) STAG1 [HSA:10274] [KO:K06671]
(MRD48) RAC1 [HSA:5879] [KO:K04392]
(MRD49) TRIP12 [HSA:9320] [KO:K10590]
(MRD50) NAA15 [HSA:80155] [KO:K20792]
(MRD51) KMT5B [HSA:51111] [KO:K11429]
(MRD52) ASH1L [HSA:55870] [KO:K06101]
(MRD53) CAMK2A [HSA:815] [KO:K04515]
(MRD54) CAMK2B [HSA:816] [KO:K04515]
(MRD55) NUS1 [HSA:116150] [KO:K19177]
(MRD56) CLTC [HSA:1213] [KO:K04646]
(MRD57) TLK2 [HSA:11011] [KO:K08864]
(MRD58) SET [HSA:6418] [KO:K11290]
(MRD59) CAMK2G [HSA:818] [KO:K04515]
(MRD60) AP2M1 [HSA:1173] [KO:K11826]
(MRD61) MED13 [HSA:9969] [KO:K15164]
(MRD62) DLG4 [HSA:1742] [KO:K11828]
(MRD64) ZNF292 [HSA:23036] [KO:K26728]
(MRD65) KDM4B [HSA:23030] [KO:K06709]
(MRD66) ATP2B1 [HSA:490] [KO:K05850]
(MRD67) GRIA1 [HSA:2890] [KO:K05197]
(MRD68) KMT2B [HSA:9757] [KO:K14959]
(MRD69) LMAN2L [HSA:81562] [KO:K10083]
(MRD70) SETD2 [HSA:29072] [KO:K11423]
(MRD71) RFX7 [HSA:64864] [KO:K09175]
(MRD72) SRRM2 [HSA:23524] [KO:K13172]
(MRD73) TAF4 [HSA:6874] [KO:K03129]
(MRD74) HNRNPC [HSA:3183] [KO:K12884]
H00779 Usher syndrome Usher syndrome (USH) is a group of autosomal recessively inherited disorders characterized by deafness and vision loss. Three clinical types USH1, USH2, and USH3, are distinguished on the basis of severity ... Nervous system disease (USH1B) MYO7A [HSA:4647] [KO:K10359]
(USH1C) USH1C [HSA:10083] [KO:K21877]
(USH1D/1DF) CDH23, USH1D [HSA:64072] [KO:K06813]
(USH1F/1DF) PCDH15 [HSA:65217] [KO:K16500]
(USH1G) USH1G [HSA:124590] [KO:K21878]
(USH1J) CIB2 [HSA:10518] [KO:K23837]
(USH1M) ESPN [HSA:83715] [KO:K24047]
(USH2A) USH2A [HSA:7399] [KO:K19636]
(USH2A/2C) PDZD7 [HSA:79955] [KO:K21882]
(USH2B/2C) GPR98 [HSA:84059] [KO:K18263]
(USH2D) WHRN [HSA:25861] [KO:K21879]
(USH3A) CLRN1 [HSA:7401] [KO:K23841]
(USH3B) HARS [HSA:3035] [KO:K01892]
(USH4) ARSG [HSA:22901] [KO:K12381]
H00786 Hypotrichosis Hypotrichosis (HYPT) is a non-syndromic hair loss that includes hereditary hypotrichosis simplex (HHS), localized autosomal recessive hypotrichosis (LAH), and Marie-Unna hereditary hypotrichosis (MUHH) ... Skin disease (HYPT1) APCDD1 [HSA:147495] [KO:K25812]
(HYPT2) CDSN [HSA:1041] [KO:K23457]
(HYPT3) KRT74 [HSA:121391] [KO:K07605]
(HYPT4) HRURF [HSA:120766137]
(HYPT4/MUHH1) HR [HSA:55806] [KO:K00478]
(HYPT5/MUHH2) EPS8L3 [HSA:79574] [KO:K17277]
(HYPT6/LAH1) DSG4 [HSA:147409] [KO:K07599]
(HYPT7/LAH2) LIPH [HSA:200879] [KO:K19404]
(HYPT8/LAH3) LPAR6 [HSA:10161] [KO:K04273]
(HYPT11) SNRPE [HSA:6635] [KO:K11097]
(HYPT12) RPL21 [HSA:6144] [KO:K02889]
(HYPT13) KRT71 [HSA:112802] [KO:K07605]
(HYPT14) LSS [HSA:4047] [KO:K01852]
(HYPT15) C3orf52 [HSA:79669] [KO:K26953]
H00811 Distal arthrogryposis Distal arthrogryposis (DA) is a distinct group of syndromes with congenital contractures primarily involving the hands and feet, which often is associated with abnormal facies. To date, 10 different DA ... Congenital malformation (DA1A, DA2B4) TPM2 [HSA:7169] [KO:K10374]
(DA1B) MYBPC1 [HSA:4604] [KO:K12557]
(DA1C) MYL11 [HSA:29895] [KO:K12758]
(DA2A, DA2B3) MYH3 [HSA:4621] [KO:K24220]
(DA2B1) TNNI2 [HSA:7136] [KO:K12043]
(DA2B2) TNNT3 [HSA:7140] [KO:K12046]
(DA3, DA5) PIEZO2 [HSA:63895] [KO:K22128]
(DA5D) ECEL1 [HSA:9427] [KO:K09610]
(DA7) MYH8 [HSA:4626] [KO:K24220]
(DA9) FBN2 [HSA:2201] [KO:K23342]
(DA11) MET [HSA:4233] [KO:K05099]
(DA12) ADAMTS15 [HSA:170689] [KO:K08629]
H00831 Primary dystonia Dystonias are a heterogeneous group of hyperkinetic movement disorders characterized by involuntary sustained muscle contractions that lead to abnormal postures and repetitive movements. Presently, 30 ... Nervous system disease (DYT1) TOR1A [HSA:1861] [KO:K22990]
(DYT2) HPCA [HSA:3208] [KO:K23846]
(DYT3) TAF1 [HSA:6872] [KO:K03125]
(DYT4) TUBB4A [HSA:10382] [KO:K07375]
(DYT5) GCH1 [HSA:2643] [KO:K01495]
(DYT6) THAP1 [HSA:55145] [KO:K23203]
(DYT8) PNKD [HSA:25953] [KO:K23864]
(DYT9) SLC2A1 [HSA:6513] [KO:K07299]
(DYT10/EKD1) PRRT2 [HSA:112476] [KO:K23897]
(DYT11) SGCE [HSA:8910] [KO:K27061]
(DYT12) ATP1A3 [HSA:478] [KO:K01539]
(DYT16) PRKRA [HSA:8575] [KO:K24540]
(DYT22JO/AO) TSPOAP1 [HSA:9256] [KO:K19922]
(DYT24) ANO3 [HSA:63982] [KO:K19498]
(DYT25) GNAL [HSA:2774] [KO:K04633]
(DYT26) KCTD17 [HSA:79734] [KO:K21914]
(DYT27) COL6A3 [HSA:1293] [KO:K06238]
(DYT28) KMT2B [HSA:9757] [KO:K14959]
(DYT29/DYTOABG) MECR [HSA:51102] [KO:K07512]
(DYT30) VPS16 [HSA:64601] [KO:K20180]
(DYT31) AOPEP [HSA:84909] [KO:K09606]
(DYT32) VPS11 [HSA:55823] [KO:K20179]
(DYT33) EIF2AK2 [HSA:5610] [KO:K16195]
(DYT34) KCNN2 [HSA:3781] [KO:K04943]
(DYT35) SHQ1 [HSA:55164] [KO:K14764]
(DYT36/EKD3) TMEM151A [HSA:256472]
(DYT37) NUP54 [HSA:53371] [KO:K14308]
H00865 Lethal congenital contractural syndrome Lethal congenital contractural syndrome (LCCS) is a heterogeneous group of disorders characterized by congenital nonprogressive joint contractures with a severe form of arthrogryposis. LCCS is inherited ... Congenital malformation (LCCS1) GLE1 [HSA:2733] [KO:K18723]
(LCCS2) ERBB3 [HSA:2065] [KO:K05084]
(LCCS3) PIP5K1C [HSA:23396] [KO:K00889]
(LCCS4) MYBPC1 [HSA:4604] [KO:K12557]
(LCCS5) DNM2 [HSA:1785] [KO:K23484]
(LCCS6) ZBTB42 [HSA:100128927] [KO:K23196]
(LCCS7) CNTNAP1 [HSA:8506] [KO:K07379]
(LCCS8) ADCY6 [HSA:112] [KO:K08046]
(LCCS9) ADGRG6 [HSA:57211] [KO:K08463]
(LCCS10) NEK9 [HSA:91754] [KO:K20878]
(LCCS11) GLDN [HSA:342035] [KO:K16364]
H00876 Mismatch repair deficiency ... mismatch repair mutations. MMR deficiency is correlated with hereditary non-polyposis colorectal cancer (HNPCC) and some forms of sporadic tumors. HNPCC also referred to as Lynch syndrome, is an autosomal-dominant-inherited ... Cancer (MMRCS1/HNPCC2) MLH1 [HSA:4292] [KO:K08734]
(MMRCS2/HNPCC1) MSH2 [HSA:4436] [KO:K08735]
(MMRCS3/HNPCC5) MSH6 [HSA:2956] [KO:K08737]
(MMRCS4/HNPCC4) PMS2 [HSA:5395] [KO:K10858]
(HNPCC7) MLH3 [HSA:27030] [KO:K08739]
H00897 Pontocerebellar hypoplasia Pontocerebellar hypoplasia (PCH) is a group of inherited progressive neurodegenerative disorders with prenatal onset. Up to now ten different subtypes have been reported. All subtypes share common characteristics ... Congenital malformation (PCH1A) VRK1 [HSA:7443] [KO:K08816]
(PCH1B) EXOSC3 [HSA:51010] [KO:K03681]
(PCH1C) EXOSC8 [HSA:11340] [KO:K12586]
(PCH1D) EXOSC9 [HSA:5393] [KO:K03678]
(PCH1E) SLC25A46 [HSA:91137] [KO:K03454]
(PCH1F) EXOSC1 [HSA:51013] [KO:K07573]
(PCH2A/4/5) TSEN54 [HSA:283989] [KO:K15326]
(PCH2B) TSEN2 [HSA:80746] [KO:K15322]
(PCH2C) TSEN34 [HSA:79042] [KO:K15323]
(PCH2D) SEPSECS [HSA:51091] [KO:K03341]
(PCH2E) VPS53 [HSA:55275] [KO:K20299]
(PCH2F) TSEN15 [HSA:116461] [KO:K15324]
(PCH3) PCLO [HSA:27445] [KO:K16882]
(PCH6) RARS2 [HSA:57038] [KO:K01887]
(PCH7) TOE1 [HSA:114034] [KO:K13202]
(PCH8) CHMP1A [HSA:5119] [KO:K12197]
(PCH9) AMPD2 [HSA:271] [KO:K01490]
(PCH10) CLP1 [HSA:10978] [KO:K14399]
(PCH11) TBC1D23 [HSA:55773] [KO:K22555]
(PCH12) COASY [HSA:80347] [KO:K02318]
(PCH13) VPS51 [HSA:738] [KO:K20296]
(PCH14) PPIL1 [HSA:51645] [KO:K12733]
(PCH15) CDC40 [HSA:51362] [KO:K12816]
(PCH16) MINPP1 [HSA:9562] [KO:K03103]
(PCH17) PRDM13 [HSA:59336] [KO:K24645]
H00939 Darsun syndrome
Neutropenia, severe congenital 4, autosomal recessive
G6PC3 deficiency 		G6PC3 deficiency is a syndromic variant of severe congenital neutropenia associated by complex organ malformation. Patients often have cardiac defects such as atrial septal defects, an increased superficial ... Immune system disease G6PC3 [HSA:92579] [KO:K01084]
H00961 Posterior polymorphous corneal dystrophy Posterior polymorphous corneal dystrophy (PPCD) is a very rare, bilateral autosomal dominant disorder affecting primarily the innermost corneal layers, Descemet membrane (DM), and the endothelium, biomicroscopically ... Nervous system disease (PPCD1) OVOL2 [HSA:58495] [KO:K09216]
(PPCD2) COL8A2 [HSA:1296] [KO:K23455]
(PPCD3) ZEB1 [HSA:6935] [KO:K09299]
(PPCD4) GRHL2 [HSA:79977] [KO:K09275]
H00991 Microcephalic osteodysplastic primordial dwarfism, type II (MOPD II) Microcephalic osteodysplastic primordial dwarfism, type II (MOPD II) is an autosomal recessive condition characterized by severe intrauterine and postnatal growth failure, microcephaly, and disproportionate ... Congenital malformation PCNT [HSA:5116] [KO:K16481]
H01025 Familial adenomatous polyposis ... of the polyps. The genetic defect in FAP is a germline mutation in the adenomatous polyposis coli (APC) gene. In a subset of individuals, a MUTYH mutation causes a recessively inherited polyposis condition Neoplasm (FAP1) APC [HSA:324] [KO:K02085]
(FAP2) MUTYH [HSA:4595] [KO:K03575]
(FAP3) NTHL1 [HSA:4913] [KO:K10773]
(FAP4) MSH3 [HSA:4437] [KO:K08736]
H01027 Microphthalmia Anophthalmia and/or microphthalmia (A/M) can be defined as an absence or reduced size of the globe in the orbit. Anophthalmia refers to complete absence of the globe in the presence of ocular adnexae. ... Congenital malformation (MCOP2/MCOPCB3) VSX2 [HSA:338917] [KO:K09336]
(MCOP4/MCOPCB6) GDF6 [HSA:392255] [KO:K20012]
(MCOP5) MFRP [HSA:83552] [KO:K24359]
(MCOP6) PRSS56 [HSA:646960] [KO:K23440]
(MCOP7/MCOPCB6) GDF3 [HSA:9573] [KO:K22672]
(MCOP8) ALDH1A3 [HSA:220] [KO:K07249]
(MCOPCB5) SHH [HSA:6469] [KO:K11988]
(MCOPCB7) ABCB6 [HSA:10058] [KO:K05661]
(MCOPCB8) STRA6 [HSA:64220] [KO:K23088]
(MCOPCB9) TENM3 [HSA:55714] [KO:K24473]
(MCOPCB10) RBP4 [HSA:5950] [KO:K18271]
(MCOPCB11) FZD5 [HSA:7855] [KO:K02375]
H01036 Posterior column ataxia with retinitis pigmentosa Posterior column ataxia with retinitis pigmentosa (PCARP) is an autosomal recessive, childhood onset neurodegenerative disorder characterized by sensory ataxia and retinitis pigmentosa. It has been reported ... Nervous system disease FLVCR1 [HSA:28982] [KO:K08220]
H01039 Ovarian hyperstimulation syndrome ... the follicle-stimulating hormone receptor (FSHr) have been reported in these cases. Polycystic ovarian syndrome (PCOS) appears to be the major predisposing factor for OHSS in a large number of studies. Reproductive system disease FSHR [HSA:2492] [KO:K04247]
H01088 Pigmented paravenous chorioretinal atrophy Pigmented paravenous chorioretinal atrophy (PPCRA) is a rare retinal disorder characterized by the presence of bilaterally symmetrical chorioretinal atrophy, with accumulation of bone corpuscle pigmentation ... Nervous system disease CRB1 [HSA:23418] [KO:K16681]
H01111 Cortisone reductase deficiency ... phenotypic similarities between cortisone reductase deficiency (CRD) and polycystic ovary syndrome (PCOS). PCOS is a common endocrine disorder characterized by hirsutism, menstrual irregularity, anovulatory ... Endocrine and metabolic disease (CORTRD1) H6PD [HSA:9563] [KO:K13937]
(CORTRD2) HSD11B1 [HSA:3290] [KO:K15680]
H01122 Congenital pulmonary alveolar proteinosis
Pulmonary surfactant metabolism dysfunction 		Congenital pulmonary alveolar proteinosis is also known as pulmonary surfactant metabolism dysfunction (SMDP). It is caused by one of the three different genes associated with surfactant metabolism in ... Respiratory system disease (SMDP1) SFTPB [HSA:6439] [KO:K26067]
(SMDP2) SFTPC [HSA:6440] [KO:K26068]
(SMDP3) ABCA3 [HSA:21] [KO:K05643]
(SMDP4) CSF2RA [HSA:1438] [KO:K05066]
(SMDP5) CSF2RB [HSA:1439] [KO:K04738]
H01174 Congenital diarrhea Congenital diarrheas are a group of rare chronic enteropathies characterized by a heterogeneous etiology. In the first weeks of life, patients usually present with severe diarrhea that within a few hours ... Digestive system disease (DIAR1) SLC26A3 [HSA:1811] [KO:K14078]
(DIAR2/MVID1) MYO5B [HSA:4645] [KO:K10357]
(DIAR3) SPINT2 [HSA:10653] [KO:K23421]
(DIAR4) NEUROG3 [HSA:50674] [KO:K08028]
(DIAR5) EPCAM [HSA:4072] [KO:K06737]
(DIAR6) GUCY2C [HSA:2984] [KO:K12320]
(DIAR7) DGAT1 [HSA:8694] [KO:K11155]
(DIAR8) SLC9A3 [HSA:6550] [KO:K12040]
(DIAR9) WNT2B [HSA:7482] [KO:K00182]
(DIAR10) PLVAP [HSA:83483] [KO:K17309]
(DIAR11) PERCC1 [HSA:105371045]
(DIAR12/MVID2) STX3 [HSA:6809] [KO:K08486]
(DIAR13) ACSL5 [HSA:51703] [KO:K01897]
H01180 Sveinsson chorioretinal atrophy (SCRA)
Helicoid peripapillary chorioretinal degeneration (HPCD) 		... chorioretinal atrophy (SCRA), also referred to as helicoid peripapillary chorioretinal degeneration (HPCD), is a distinct autosomal dominant disease affecting both eyes characterized clinically by bilateral ... Nervous system disease TEAD1 [HSA:7003] [KO:K09448]
H01203 Primary congenital glaucoma
Glaucoma 3 		Primary congenital glaucoma (PCG) is a severe form of glaucoma that presents early in life. PCG results from developmental abnormalities that affect the aqueous humor outflow pathway. PCG clinical features ... Congenital malformation (GLC3A) CYP1B1 [HSA:1545] [KO:K07410]
(GLC3D) LTBP2 [HSA:4053] [KO:K08023]
(GLC3E) TEK [HSA:7010] [KO:K05121]
H01215 Simpson-Golabi-Behmel syndrome ... of SGBS are type 1, that appear to arise as a result of either deletions or point mutations within the glypican-3 (GPC3) gene. SGBS type 2 is a severe variant, that is associated with defects in OFD1. Congenital malformation (SGBS1) GPC3 [HSA:2719] [KO:K08109]
(SGBS2) OFD1 [HSA:8481] [KO:K16480]
H01216 Left ventricular noncompaction Left ventricular noncompaction (LVNC) is a rare and potentially progressive cardiomyopathy, characterized by the presence of prominent trabeculations of the left ventricle, associated with progressive ... Cardiovascular disease (LVNC1) DTNA [HSA:1837] [KO:K26998]
(LVNC3) LDB3 [HSA:11155] [KO:K19867]
(LVNC4) ACTC1 [HSA:70] [KO:K12314]
(LVNC5) MYH7 [HSA:4625] [KO:K17751]
(LVNC6) TNNT2 [HSA:7139] [KO:K12045]
(LVNC7) MIB1 [HSA:57534] [KO:K10645]
(LVNC8) PRDM16 [HSA:63976] [KO:K22410]
(LVNC9) TPM1 [HSA:7168] [KO:K10373]
(LVNC10) MYBPC3 [HSA:4607] [KO:K12568]
H01252 Hereditary folate malabsorption ... early, the signs and symptoms can be obviated by high oral doses of folates. Recently, several mutations were identified in the proton-coupled folate transporter (PCFT/SLC46A1) gene from patients with HFM. Inherited metabolic disorder SLC46A1 [HSA:113235] [KO:K14613]
H01263 Progressive cardiac conduction defect (PCCD)
Progressive familial heart block (PFHB)
Lenegre-Lev disease 		Progressive cardiac conduction defect (PCCD) is a cardiac bundle branch disorder characterized by progressive alteration of cardiac conduction through the His-Purkinje system. It leads to complete atrioventricular ... Cardiovascular disease (PFHB1A) SCN5A [HSA:6331] [KO:K04838]
(PFHB1B) TRPM4 [HSA:54795] [KO:K04979]
H01278 Iron-refractory iron deficiency anemia ... hypochromic microcytic anaemia, low transferrin saturation and high levels of the iron-regulated hormone hepcidin. The disease is caused by mutations in TMPRSS6, which encodes a type II transmembrane serine protease ... Hematologic disease TMPRSS6 [HSA:164656] [KO:K09637]
H01299 Idiopathic pulmonary fibrosis ... that presents in older adults with shortness of breath and cough. Mutations in surfactant protein C (SFTPC), surfactant protein A (SFTPA), telomerase reverse transcriptase (TERT), and telomerase RNA component ... Respiratory system disease (PFBMFT1) TERT [HSA:7015] [KO:K11126]
(PFBMFT2) TERC [HSA:7012] [KO:K22183]
(ILD1) SFTPA1 [HSA:653509] [KO:K10067]
(ILD2) SFTPA2 [HSA:729238] [KO:K10067]
(ILD2) MUC5B [HSA:727897] [KO:K13908]
SFTPC [HSA:6440] [KO:K26068]
H01320 Epidemic keratoconjunctivitis ... well-defined adenoviral keratoconjunctivitis clinical syndromes: EKC and pharyngoconjunctival fever (PCF) [DS:H01420], which are caused by different HAdV serotypes. HAdV-8, HAdV-19, and HAdV-37 are common ... Viral infectious disease
H01348 Mitochondrial phosphate carrier deficiency Mitochondrial phosphate carrier deficiency (MPCD) is a novel disorder of oxidative phosphorylation caused by mutation in the SLC25A3 gene. The mitochondrial phosphate carrier SLC25A3 transports inorganic ... Inherited metabolic disorder, Mitochondrial disease SLC25A3 [HSA:5250] [KO:K15102]
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]
H01420 Pharyngoconjunctival fever Pharyngoconjunctival fever (PCF) is a syndrome attributed to human adenovirus B, particularly serotype 3, which causes small outbreaks, mainly among children. The syndrome may occur sporadically and can ... Viral infectious disease
H01428 Xeroderma pigmentosum Xeroderma pigmentosum (XP) is a rare autosomal-inherited, skin and neurodegenerative disease in which exposure to sunlight can result in a high incidence of skin and mucous membrane cancer. XP is classified ... Congenital malformation (XPA) XPA [HSA:7507] [KO:K10847]
(XPB) ERCC3 [HSA:2071] [KO:K10843]
(XPC) XPC [HSA:7508] [KO:K10838]
(XPD) ERCC2 [HSA:2068] [KO:K10844]
(XPE) DDB2 [HSA:1643] [KO:K10140]
(XPF) ERCC4 [HSA:2072] [KO:K10848]
(XPG) ERCC5 [HSA:2073] [KO:K10846]
(XPV) POLH [HSA:5429] [KO:K03509]
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
H01558 Parathyroid carcinoma Parathyroid carcinoma (PC) is a highly aggressive endocrine tumor, with an annual incidence of less than 1 per million. Over 90% of patients present with excess parathyroid hormone (PTH), representing ... Cancer CDC73/HRPT2 (mutation) [HSA:79577] [KO:K15175]
CASR [HSA:846] [KO:K04612]
H01586 Acquired pure red cell aplasia ... consequent anaemia and reticulocytopenia in the presence of normal granulocytic and megakaryocytic lineages. RPCA can be classified into congenital and acquired. Congenital PRCA is also known as Diamond-Blackfan ... Hematologic disease
H01601 Anaplastic large-cell lymphoma ... strong expression of CD30. The World Health Organization recognizes 3 entities: primary cutaneous ALCL (pcALCL), anaplastic lymphoma kinase (ALK)-positive ALCL, and, provisionally, ALK-negative ALCL. pcALCL ... Cancer NPM-ALK (translocation) [HSA:238] [KO:K05119]
DUSP22-IRF4 (translocation) [HSA:56940] [KO:K14165]
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