Waardenburg syndrome type 4C
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
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Waardenburg syndrome type 4C
Summary
Waardenburg syndrome type 4C is a rare disease[1].
Key Facts
- Waardenburg syndrome type 4C's instance of is recorded as rare disease[2].
- Waardenburg syndrome type 4C's instance of is recorded as class of disease[3].
- Waardenburg syndrome type 4C is a type of Waardenburg's syndrome[4].
- Waardenburg syndrome type 4C is a type of Waardenburg-Shah syndrome[5].
- Waardenburg syndrome type 4C's genetic association is recorded as SOX10[6].
- Waardenburg syndrome type 4C's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110955[7].
- Waardenburg syndrome type 4C's exact match is recorded as http://identifiers.org/doid/DOID:0110955[8].
- Waardenburg syndrome type 4C's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_897[9].
- Waardenburg syndrome type 4C's on focus list of Wikimedia project is recorded as WikiProject Medicine[10].