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Entry Name Description Category Pathway Gene
H00782 Hypotrichosis and recurrent skin vesicles Hypotrichosis and recurrent skin vesicles is a condition with sparse and fragile hair on scalp and vesicles on the skin over the body. Desmocollin 3, a transmembrane component of desmosomes, is associated ... Skin disease DSC3 [HSA:1825] [KO:K07602]
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]
H00821 Age-related macular degeneration Macular degeneration is the physical breakdown of the central portion of the retina called the macula. Age-related macular degeneration (AMD/ARMD) is the leading cause of blindness. AMD is a complex disease ... Nervous system disease (ARMD1) HMCN1 [HSA:83872] [KO:K17341]
(ARMD1) CFHR1 [HSA:3078] [KO:K23815]
(ARMD1) CFHR3 [HSA:10878] [KO:K23815]
(ARMD2) ABCA4 [HSA:24] [KO:K05644]
(ARMD3) FBLN5 [HSA:10516] [KO:K17340]
(ARMD4) CFH [HSA:3075] [KO:K04004]
(ARMD5) ERCC6 [HSA:2074] [KO:K10841]
(ARMD6) RAX2 [HSA:84839] [KO:K09333]
(ARMD7) HTRA1 [HSA:5654] [KO:K08784]
(ARMD8) ARMS2 [HSA:387715] [KO:K25179]
(ARMD9) C3 [HSA:718] [KO:K03990]
(ARMD10) TLR4 [HSA:7099] [KO:K10160]
(ARMD11) CST3 [HSA:1471] [KO:K13899]
(ARMD12) CX3CR1 [HSA:1524] [KO:K04192]
(ARMD13) CFI [HSA:3426] [KO:K01333]
(ARMD14) C2 [HSA:717] [KO:K01332]
(ARMD14) CFB [HSA:629] [KO:K01335]
(ARMD15) C9 [HSA:735] [KO:K04000]
H00866 Trichothiodystrophy ... progressive mental and physical retardation. Within photo-sensitive TTD, three TFIIH coding genes (ERCC2, ERCC3, and TTDA/GTF2H5) are implicated. Non-photosensitive trichothiodystrophy (TTDN) is characterized by ... Skin disease (TTD1) ERCC2 [HSA:2068] [KO:K10844]
(TTD2) ERCC3 [HSA:2071] [KO:K10843]
(TTD3) GTF2H5 [HSA:404672] [KO:K10845]
(TTD4) MPLKIP [HSA:136647] [KO:K24575]
(TTD5) RNF113A [HSA:7737] [KO:K13127]
(TTD6) GTF2E2 [HSA:2961] [KO:K03137]
(TTD7) TARS1 [HSA:6897] [KO:K01868]
(TTD8) AARS1 [HSA:16] [KO:K01872]
(TTD9) MARS1 [HSA:4141] [KO:K01874]
H00875 Megaloencephalic leukoencephalopathy with subcortical cysts Megaloencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare leukodystrophy characterized by macrocephaly and a slowly progressive clinical course marked by spasticity and cognitive decline ... Nervous system disease (MLC1) MLC1 [HSA:23209] [KO:K20070]
(MLC2A/2B) HEPACAM [HSA:220296] [KO:K23116]
(MLC3) GPRC5B [HSA:51704] [KO:K04619]
(MLC4) AQP4 [HSA:361] [KO:K09866]
H00888 Nephrolithiasis/osteoporosis, hypophosphatemic ... demineralization due to impaired renal phosphate reabsorption. It is caused by either mutations in SLC34A1, a sodium-phosphate cotransporter expressed in kidney and polarized osteoclasts, or in sodium-hydrogen ... Urinary system disease (NPHLOP1) SLC34A1 [HSA:6569] [KO:K14683]
(NPHLOP2) NHERF1 [HSA:9368] [KO:K13365]
H00892 Bronchiectasis with or without elevated sweat chloride Bronchiectasis is a condition in which the airways are permanently dilated due to recurrent inflammation or infection. In many cases, the cause is unknown but recently some of the patients have been shown ... Respiratory system disease (BESC1) SCNN1B [HSA:6338] [KO:K04825]
(BESC2) SCNN1A [HSA:6337] [KO:K04824]
(BESC3) SCNN1G [HSA:6340] [KO:K04827]
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]
H00901 Cystinuria ... important, as it allows prevention or diminution of kidney stones. Mutations in either interacting subunit SLC3A1 (rBAT) or SLC7A9 (b0,+AT) cause cystinuria. Cystinuria due to mutations in SLC3A1 is an autosomal ... Inherited metabolic disorder SLC3A1 [HSA:6519] [KO:K14210]
SLC7A9 [HSA:11136] [KO:K13868]
H00905 Iminoglycinuria ... of autosomal recessive inheritance and is genetically complex. Inactivation or reduced function of SLC36A2 (PAT-2) is the predominant determinant of the iminoglycinuria phenotype in humans. Mutations in ... Inherited metabolic disorder SLC36A2 [HSA:153201] [KO:K14209]
SLC6A19 [HSA:340024] [KO:K05334]
SLC6A20 [HSA:54716] [KO:K05048]
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]
H00978 Thrombocytopenia (THC) Thrombocytopenia is defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. Inherited syndromes are ... Hematologic disease (THC1) WAS [HSA:7454] [KO:K05747]
(THC2) ANKRD26 [HSA:22852] [KO:K25138]
(THC3) FYB1 [HSA:2533] [KO:K17698]
(THC4) CYCS [HSA:54205] [KO:K08738]
(THC5) ETV6 [HSA:2120] [KO:K03211]
(THC6) SRC [HSA:6714] [KO:K05704]
(THC7) IKZF5 [HSA:64376] [KO:K09220]
(THC8) ACTB [HSA:60] [KO:K05692]
(THC9) THPO [HSA:7066] [KO:K06854]
(THC10) PTPRJ [HSA:5795] [KO:K05698]
(THC11) RAP1B [HSA:5908] [KO:K07836]
(THC12) GNE [HSA:10020] [KO:K12409]
(THC13) GALE [HSA:2582] [KO:K01784]
(XLTT/XLTDA) GATA1 [HSA:2623] [KO:K09182]
(THAMY) MPIG6B [HSA:80739] [KO:K25640]
(FPDMM) RUNX1 [HSA:861] [KO:K08367]
H01136 Carboxypeptidase N deficiency Carboxypeptidase N (CPN) is a plasma zinc metalloprotease that inactivates C3a, C4a, C5a, bradykinin, kalladin, and fibrinopeptides. CPN has been implicated as a major regulator of inflammation. Although ... Immune system disease CPN1 [HSA:1369] [KO:K01292]
H01193 Familial tumoral calcinosis Familial tumoral calcinosis (FTC) refers to a group of disorders inherited in an autosomal recessive fashion, distinguished by the development of ectopic and vascular calcified masses that occur in settings ... Inherited metabolic disorder (HFTC1) GALNT3 [HSA:2591] [KO:K00710]
(HFTC2) FGF23 [HSA:8074] [KO:K22428]
(HFTC3) KL [HSA:9365] [KO:K14756]
(NFTC) SAMD9 [HSA:54809] [KO:K23949]
H01195 VACTERL/VATER association ... cases and proposed as possible causal factors, including: deletions of distal 13q, ring chromosome 12, and 6q; duplication on 9q; mutations in PTEN, HOXD13, and ZIC3; and a mitochondrial substitution. Congenital malformation PTEN [HSA:5728] [KO:K01110]
HOXD13 [HSA:3239] [KO:K09298]
(VACTERLX) ZIC3 [HSA:7547] [KO:K18487]
(VCTERL) WBP11 [HSA:51729] [KO:K12866]
H01198 Fanconi renotubular syndrome ... bone mineral deficiency, and decreased glomerular filtration rates. It is reported that mutations in SLC34A1, which encodes the renal sodium-inorganic phosphate cotransporter NaPi-IIa, may cause this disease Inherited metabolic disorder (FRTS1) GATM [HSA:2628] [KO:K00613]
(FRTS2) SLC34A1 [HSA:6569] [KO:K14683]
(FRTS3) EHHADH [HSA:1962] [KO:K07514]
(FRTS4) HNF4A [HSA:3172] [KO:K07292]
(FRTS5) NDUFAF6 [HSA:137682] [KO:K18163]
H01199 Hyperalphalipoproteinemia ... primary HALP is a genetic deficiency of CETP, which has been reported mainly from Japan. A mutation in APOC3 gene is also associated in some families. Familial HALP often coexists with longevity, and that higher ... Inherited metabolic disorder (HALP1) CETP [HSA:1071] [KO:K16835]
(HALP2) APOC3 [HSA:345] [KO:K08759]
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]
H01256 Foveal hypoplasia ... associated with presenile cataract. The mutations in the PAX6 gene have been described in foveal hypoplasia. Recently, it has been reported that recessive mutations in SLC38A8 cause foveal hypoplasia. Nervous system disease (FVH1) PAX6 [HSA:5080] [KO:K08031]
(FVH2) SLC38A8 [HSA:146167] [KO:K14994]
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]
(SPGF91) CCIN [HSA:881] [KO:K24809]
(SPGF92) LRRC23 [HSA:10233] [KO:K27856]
(SPGF93) STK33 [HSA:65975] [KO:K08813]
(SPGF94) CCDC146 [HSA:57639] [KO:K27712]
(SPGF95) CFAP57 [HSA:149465] [KO:K24729]
(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]
(SPGFX8) CYLC1 [HSA:1538]
H01298 Pulmonary alveolar microlithiasis ... asymptomatic for several years, and cases with early onset or rapid progression are rare. One-third of the reported cases are familial. It has been suggested that mutations in SLC34A2 cause this disease. Respiratory system disease SLC34A2 [HSA:10568] [KO:K14683]
H01304 Hyperglycinuria Hyperglycinuria (HG) is an autosomal recessive abnormality of renal transport of glycine, resulting from mutations in genes encoding proline and glycine transporters. Urinary system disease SLC6A20 [HSA:54716] [KO:K05048]
SLC6A19 [HSA:340024] [KO:K05334]
SLC36A2 [HSA:153201] [KO:K14209]
H01307 Nonsyndromic congenital nail disorder Nonsyndromic congenital nail disorder (NDNC) is rare and has been reported in only a small number of families. There is a variable expression of nail phenotypes among individuals. It has been identified ... Skin disease (NDNC1) FZD6 [HSA:8323] [KO:K02376]
(NDNC3) PLCD1 [HSA:5333] [KO:K05857]
(NDNC4) RSPO4 [HSA:343637] [KO:K23099]
(NDNC8) COL7A1 [HSA:1294] [KO:K16628]
H01371 Hypercalcemia infantile
Idiopathic infantile hypercalcemia 		Idiopathic infantile hypercalcemia is autosomal recessive disorder that is characterized by severe hypercalcemia, failure to thrive, vomiting, dehydration, and nephrocalcinosis. It has been reported that ... Inherited metabolic disorder (HCINF1) CYP24A1 [HSA:1591] [KO:K07436]
(HCINF2) SLC34A1 [HSA:6569] [KO:K14683]
H01392 Arthrogryposis, mental retardation, and seizures ... disorder comprising autism spectrum disorder (ASD), epilepsy, and arthrogryposis. Mutations in the SLC35A3 gene are associated with AMRS. The gene encodes a UDP-GlcNAc transporter, and the mutations abolish ... Congenital malformation SLC35A3 [HSA:23443] [KO:K15272]
H01428 Xeroderma pigmentosum ... individuals with XP under 20 years of age is 2,000 times as high as incidence in the general population. Neurodegeneration can be correlated with mutations in specific XP genes (XPA, ERCC3, ERCC2 and ERCC5). 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]
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]
H01439 Williams-Beuren syndrome Williams-Beuren syndrome (WBS) is a rare autosomal dominant multisystem disorder associated with the hemizygous deletion of a number of genes on chromosome 7q11.23. The range of phenotypes may include ... Chromosomal abnormality ELN [HSA:2006] [KO:K14211]
LIMK1 [HSA:3984] [KO:K05743]
CLIP2 [HSA:7461] [KO:K10422]
RFC2 [HSA:5982] [KO:K10755]
BCL7B [HSA:9275] [KO:K25605]
GTF2I [HSA:2969] [KO:K03121]
GTF2IRD [HSA:9569] [KO:K27274]
EIF4H [HSA:7458] [KO:K24086]
TBL2 [HSA:26608] [KO:K23325]
MLXIPL [HSA:51085] [KO:K09113]
FKBP6 [HSA:8468] [KO:K09572]
BAZ1B [HSA:9031] [KO:K11658]
CLDN3 [HSA:1365] [KO:K06087]
CLDN4 [HSA:1364] [KO:K06087]
DNAJC30 [HSA:84277] [KO:K19374]
LAT2 [HSA:7462] [KO:K26356]
FZD9 [HSA:8326] [KO:K02842]
STX1A [HSA:6804] [KO:K04560]
SPDYE1 [HSA:285955] [KO:K08694]
NSUN5 [HSA:55695] [KO:K15264]
ABHD11 [HSA:83451] [KO:K13703]
TRIM50 [HSA:135892] [KO:K12024]
VPS37D [HSA:155382] [KO:K12185]
WBSCR22 [HSA:114049] [KO:K19306]
WBSCR16 [HSA:64409] [KO:K00710]
WBSCR17 [HSA:81554] [KO:K23495]
WBSCR27 [HSA:155368] [KO:K24419]
WBSCR28 [HSA:135886]
H01480 Idiopathic macular hole
Retinal perforations 		... thereby improve the central visual defect. Initially, vitrectomy surgery with long-acting gas (SF6, C3F8) and postoperative face-down positioning for at least 1 week was the only option. However, nowadays ... Nervous system disease
H01568 3C syndrome
Ritscher-Schinzel syndrome
Craniocerebellocardiac dysplasia 		The 3C syndrome, also known as Ritscher-Schinzel syndrome, is a rare, presumably autosomal recessive syndrome characterized by craniofacial, cerebellar, and cardiac anomalies. Cardiac manifestations include ... Congenital malformation (RTSC1) WASHC5 [HSA:9897] [KO:K18464]
(RTSC2) CCDC22 [HSA:28952] [KO:K23343]
(RTSC3) VPS35L [HSA:57020] [KO:K25731]
(RTSC4) DPYSL5 [HSA:56896] [KO:K07529]
H01584 IgA vasculitis
Henoch-Schonlein purpura 		... respiratory tract infection. In addition, other characteristics of IgAV include the deposition of IgA and C3 in small vessel walls, polymorphonuclear neutrophil infiltration around the vessel and in vessel walls ... Immune system disease
H01677 Congenital hydrocephalus Congenital hydrocephalus (HYC) is a common birth defect in the circulation of the cerebrospinal fluid (CSF). It is characterized by ventricular dilatation. Although commonly considered a single disorder ... Congenital malformation (HYC1) CCDC88C [HSA:440193] [KO:K25811]
(HYC2) MPDZ [HSA:8777] [KO:K06095]
(HYC3) WDR81 [HSA:124997] [KO:K17601]
(HYC4/HYDCC1) TRIM71 [HSA:131405] [KO:K12035]
(HYC5) SMARCC1 [HSA:6599] [KO:K11649]
(HYDNP1) CFAP43 [HSA:80217] [KO:K24223]
H01726 Membranoproliferative glomerulonephritis ... immunofluorescence microscopy findings. MPGN is now recognized as follows: Immunocomplexes-associated MPGN with complement over activation; MPGN with intramembranous dense deposits; and C3 glomerulopathy. Immune system disease; Urinary system disease CFH [HSA:3075] [KO:K04004]
CFHR5 [HSA:81494] [KO:K23817]
DGKE [HSA:8526] [KO:K00901]
H01745 Cardiofaciocutaneous syndrome Cardio-facio-cutaneous (CFC) syndrome is a congenital disorder characterized by short stature, a characteristic face, cardiac defects, developmental delay and mental retardation. Affected individuals present ... Congenital malformation (CFC1) BRAF [HSA:673] [KO:K04365]
(CFC2) KRAS [HSA:3845] [KO:K07827]
(CFC3) MAP2K1 [HSA:5604] [KO:K04368]
(CFC4) MAP2K2 [HSA:5605] [KO:K04369]
H01760 Hepatic glycogen storage disease Glycogen storage diseases (GSD) are inherited metabolic disorders of glycogen metabolism. They are divided into types 0 to XV, according to enzyme or transporter deficiency and organ distribution. The ... Inherited metabolic disorder (GSB Ia) G6PC [HSA:2538] [KO:K01084]
(GSB Ib) SLC37A4 [HSA:2542] [KO:K08171]
(GSB IIIa/b) AGL [HSA:178] [KO:K01196]
(GSB IV) GBE1 [HSA:2632] [KO:K00700]
(GSB VI) PYGL [HSA:5836] [KO:K00688]
(GSB IX) PHKA2 [HSA:5256] [KO:K07190]
(GSB IXb) PHKB [HSA:5257] [KO:K07190]
(GSB IXc) PHKG2 [HSA:5261] [KO:K00871]
(GSB 0a) GYS2 [HSA:2998] [KO:K00693]
H01770 Macular dystrophy The inherited macular dystrophies are characterized by bilateral visual loss and the finding of generally symmetrical macular abnormalities visible either on ophthalmoscopy or on retinal angiographs. Nervous system disease (MCDR2) PROM1 [HSA:8842] [KO:K06532]
(MCDR4) CLEC3B [HSA:7123] [KO:K17520]
(MCDR5) CDHR1 [HSA:92211] [KO:K16501]
(CCMD) MSFD8 [HSA:256471] [KO:K12307]
(MDCD) SAMD7 [HSA:344658] [KO:K27571]
H01805 Tricho-hepato-enteric syndrome
Syndromic diarrhea 		... It has been linked to abnormalities in two components of the putative human ski complex: SKIV2L and TTC37. During their clinical course, most of the patients require parenteral nutrition and often immunoglobulin ... Congenital malformation (THES1) SKIC3 [HSA:9652] [KO:K12600]
(THES2) SKIC2 [HSA:6499] [KO:K12599]
H01810 Congenital myopathy The congenital myopathies are a group of genetic muscle disorders characterised clinically by hypotonia and weakness, usually from birth, and a static or slowly progressive clinical course. Congenital ... Nervous system disease; Musculoskeletal disease (CMYP1A/1B) RYR1 [HSA:6261] [KO:K04961]
(CMYP2A/2B/2C) ACTA1 [HSA:58] [KO:K10354]
(CMYP3) SELENON [HSA:57190] [KO:K19874]
(CMYP4) TPM3 [HSA:7170] [KO:K09290]
(CMYP5) TTN [HSA:7273] [KO:K12567]
(CMYP6) MYH2 [HSA:4620] [KO:K24220]
(CMYP7) MYH7 [HSA:4625] [KO:K17751]
(CMYP8) ACTN2 [HSA:88] [KO:K21073]
(CMYP9) FXR1 [HSA:8087] [KO:K15516]
(CMYP10A/10B) MEGF10 [HSA:84466] [KO:K24068]
(CMYP11) HACD1 [HSA:9200] [KO:K10703]
(CMYP12) CNTN1 [HSA:1272] [KO:K06759]
(CMYP13) STAC3 [HSA:246329] [KO:K23713]
(CMYP14) MYL1 [HSA:4632] [KO:K05738]
(CMYP15) TNNC2 [HSA:7125] [KO:K12042]
(CMYP16) MYBPC1 [HSA:4604] [KO:K12557]
(CMYP17) MYOD1 [HSA:4654] [KO:K09064]
(CMYP18) CACNA1S [HSA:779] [KO:K04857]
(CMYP19) PAX7 [HSA:5081] [KO:K09381]
(CMYP20) RYR3 [HSA:6263] [KO:K04963]
(CMYP21) DNAJB4 [HSA:11080] [KO:K09510]
(CMYP22A/22B) SCN4A [HSA:6329] [KO:K04837]
(CMYP23) TPM2 [HSA:7169] [KO:K10374]
(CMYP24) MYPN [HSA:84665] [KO:K22028]
(CMND) SPTBN4 [HSA:57731] [KO:K06115]
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