A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in SOX10. [ https://rarediseases.info.nih.gov/diseases/5524/waardenburg-syndrome-type-4 ]
Synonyms: Waardenburg syndrome type 4C WS4C Waardenburg syndrome with Hirschsprung disease type 4C Waardenburg syndrome type IVC
Term information
- MESH:C567679 (MONDO:equivalentTo)
- UMLS:C2750452 (OMIM:613266)
- GARD:15642 (OMIM:613266)
- DOID:0110955 (MONDO:equivalentTo)
- OMIM:613266 (MONDO:equivalentTo)
gard_rare, rare, nord_rare, clingen
https://omim.org/entry/613266
http://purl.obolibrary.org/obo/DOID_0110955
http://linkedlifedata.com/resource/umls/id/C2750452
http://identifiers.org/mesh/C567679
Waardenburg syndrome, type 4C
Waardenburg syndrome with Hirschsprung disease, type 4C