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Waardenburg syndrome type 4A

Go to external page http://purl.obolibrary.org/obo/MONDO_0010192

A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in EDNRB. [ https://rarediseases.info.nih.gov/diseases/5524/waardenburg-syndrome-type-4 ]

Synonyms: WS4A Waardenburg syndrome type 4A Waardenburg syndrome type IVA EDNRB Waardenburg syndrome Waardenburg syndrome with Hirschsprung disease type 4A Waardenburg syndrome caused by mutation in EDNRB

This is just here as a test because I lose it

Term information

database cross reference
Subsets

gard_rare, rare, nord_rare, clingen

exactMatch

https://omim.org/entry/277580

http://purl.obolibrary.org/obo/DOID_0110953

has related synonym

Waardenburg-Shah syndrome

Waardenburg syndrome, type 4A

Shah-Waardenburg syndrome

Waardenburg syndrome with Hirschsprung disease, type 4A

Ws4

id

MONDO:0010192

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0010192

Term relations