Details for Disease 110

DISEASE NAME Bardet-Biedl syndrome
DISEASE CATEGORY (ICD10) Congenital malformations, deformations and chromosomal abnormalities
DISEASE ID (ICD10) Q87.8
DISEASE ID (OMIM) 617119; 209900; 600151; 605231; 615981; 615982; 615983; 615984; 615985; 615986; 615987; 615988; 615989; 615990; 615991; 615992; 615993; 615994; 615995; 615996; 617406
123 combinations linked to 110 OLI039; OLI041; OLI059; OLI061; OLI062; OLI063; OLI064; OLI065; OLI066; OLI067; OLI078; OLI079; OLI081; OLI082; OLI083; OLI085; OLI087; OLI088; OLI089; OLI124; OLI125; OLI139; OLI140; OLI141; OLI142; OLI143; OLI144; OLI145; OLI146; OLI147; OLI170; OLI171; OLI172; OLI173; OLI174; OLI175; OLI176; OLI177; OLI098; OLI080; OLI225; OLI226; OLI322; OLI323; OLI324; OLI325; OLI097; OLI417; OLI418; OLI613; OLI614; OLI615; OLI616; OLI617; OLI618; OLI619; OLI620; OLI621; OLI622; OLI623; OLI086; OLI224; OLI1116; OLI1117; OLI1118; OLI1119; OLI1120; OLI1121; OLI1122; OLI1123; OLI1124; OLI1125; OLI1127; OLI1128; OLI1129; OLI1130; OLI1131; OLI1132; OLI1133; OLI1134; OLI1146; OLI1229; OLI1438; OLI1439; OLI1440; OLI1441; OLI1442; OLI1443; OLI1444; OLI1445; OLI1446; OLI1447; OLI1448; OLI1449; OLI1450; OLI1451; OLI1452; OLI1453; OLI1454; OLI1455; OLI1456; OLI1436; OLI1437; OLI084; OLI1435; OLI1654; OLI1655; OLI1656; OLI1657; OLI1658; OLI1659; OLI1660; OLI1661; OLI1662; OLI1663; OLI1664; OLI1665; OLI1666; OLI1667; OLI1668; OLI1669; OLI1670; OLI1671
75 gene combinations linked to 110 BBS12; SDCCAG8; CFAP418; WDPCP; IFT172; IQCB1; BBS9; CEP290; ARL6IP6; IQCB1; NPHP3; PHLDB1; IFT27; RPGRIP1; MKKS; NPHP4; BBS10; BBS9; COMT; GLI2; SDCCAG8; WDPCP; NPHP4; TTC8; NPHP4; USH2A; BBS5; NPHP4; IFT172; RPGRIP1; MKS1; NPHP4; BBS1; IFT172; TRIM32; BBS10; NRL; RPE65; BBS1; CCDC28B; BBS2; CCDC28B; BBS10; BBS7; SDCCAG8; ARL6; SDCCAG8; BBS2; BBS4; MKKS; ALMS1; BBS4; BBS9; BBS2; NPHP1; BBS1; BBS4; BBS5; BBS7; NPHP1; BBS1; BBS5; BBS4; BBS7; IFT74; CCDC28B; TTC8; BBS1; BBS7; BBS1; BBS4; BBS1; MKKS; BBS1; BBS2; BBS2; MKKS; BBS7; CEP290; NPHP1; BBS10; NPHP1; TTC8; BBS4; BBS9; BBS5; TRIM32; BBS10; BBS12; BBS1; BBS10; BBS12; BBS1; BBS12; BBS12; BBS2; BBS4; BBS10; BBS5; BBS10; MKKS; BBS12; BBS4; BBS12; BBS9; MKKS; BBS1; BBS10; BBS10; BBS7; BBS1; BBS4; CEP290; MKS1; TTC8; BBS10; P3H2; BBS4; BBS7; BBS2; BBS7; BBS12; BBS2; INPP5E; BBS1; BBS10; CEP290; BBS2; BBS4; TTC8; BBS2; BBS4; BBS1; TTC8; BBS1; BBS9; BBS10; BBS2; ARL6; TTC8; BBS7; TTC8; BBS1; IFT172; ALMS1; BBS1; BBS1; MKS1; BBS1; PDE6B; BBS1; NPHP4; BBS2; CORO2B; BBS2; MKS1; BBS12; BBS2; IFT172; MKKS; MKKS; PDE6B; BBS7; BBS9; BBS5; MKKS; BBS12; PDE6B; BBS12; TRIM32
ORPHANET ID 110
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