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- Q32145200 description "Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has material basis in heterozygous mutation in the SOX10 gene on chromosome 22q13" @default.
- Q32145200 name "Waardenburg syndrome type 4C" @default.
- Q32145200 type Item @default.
- Q32145200 label "Waardenburg syndrome type 4C" @default.
- Q32145200 altLabel "WAARDENBURG SYNDROME, TYPE 4C; WS4C" @default.
- Q32145200 altLabel "WS4C" @default.
- Q32145200 altLabel "Waardenburg Syndrome With Hirschsprung Disease, Type 4C" @default.
- Q32145200 altLabel "Waardenburg Syndrome, Type 4C" @default.
- Q32145200 altLabel "Waardenburg syndrome type IVC" @default.
- Q32145200 altLabel "Waardenburg syndrome with Hirschsprung disease type 4C" @default.
- Q32145200 prefLabel "Waardenburg syndrome type 4C" @default.
- Q32145200 P11430 Q32145200-24a61d02-40ae-4381-5e93-1582ed08e079 @default.
- Q32145200 P2293 Q32145200-C661485F-F185-46F7-8D00-AF0921001E1A @default.
- Q32145200 P279 Q32145200-0D3111FF-8372-4DDB-8BF3-E3A33B61E187 @default.
- Q32145200 P279 Q32145200-8ef85989-4ef9-dea8-323b-1ce51767591c @default.
- Q32145200 P2888 Q32145200-0F6250CC-70CE-4E4C-A7DC-27B98489BAD0 @default.
- Q32145200 P2888 Q32145200-2E3F8651-D44C-433E-AB9C-909CC182B12E @default.
- Q32145200 P2888 Q32145200-CF7F8CEF-E05E-466D-85B9-C31B8E0BE08D @default.
- Q32145200 P2892 Q32145200-82223FA8-FD5A-4600-B97D-0A81B8852100 @default.
- Q32145200 P31 Q32145200-3EB80B0A-70AD-4607-8B3D-BF3B83D78D61 @default.
- Q32145200 P31 Q32145200-9AEEC335-65E5-4D18-AC81-D9E6434EDC3C @default.
- Q32145200 P486 Q32145200-ABD8B581-963D-4CED-829A-EA3972F2181A @default.
- Q32145200 P492 Q32145200-9DBF486D-B30A-4498-9DC2-59D0751F7E26 @default.
- Q32145200 P492 Q32145200-DF4F4848-D711-4F51-9260-F3E4155D4A11 @default.
- Q32145200 P5008 Q32145200-F89C1136-6C83-4A69-9197-FF7B4CFD2C9D @default.
- Q32145200 P5270 Q32145200-D5FD7FDE-0F02-4FDA-A484-E307F808EB38 @default.
- Q32145200 P699 Q32145200-6883ACE2-4883-43AC-8224-D114AB0B8CDA @default.
- Q32145200 P486 C567679 @default.
- Q32145200 P5270 MONDO_0013202 @default.
- Q32145200 P699 DOID_DOID:0110955 @default.
- Q32145200 P11430 "DI-02676" @default.
- Q32145200 P2293 Q18031655 @default.
- Q32145200 P279 Q1151801 @default.
- Q32145200 P279 Q56014317 @default.
- Q32145200 P2888 DOID:0110955 @default.
- Q32145200 P2888 DOID_0110955 @default.
- Q32145200 P2888 Orphanet_897 @default.
- Q32145200 P2892 "C2750452" @default.
- Q32145200 P31 Q112193867 @default.
- Q32145200 P31 Q929833 @default.
- Q32145200 P486 "C567679" @default.
- Q32145200 P492 "613266" @default.
- Q32145200 P5008 Q4099686 @default.
- Q32145200 P5270 "MONDO_0013202" @default.
- Q32145200 P699 "DOID:0110955" @default.