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Waardenburg syndrome type 4B

Go to external page http://purl.obolibrary.org/obo/MONDO_0013201

A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in EDN3. [ https://rarediseases.info.nih.gov/diseases/5524/waardenburg-syndrome-type-4 ]

Synonyms: WS4B EDN3 Waardenburg syndrome Waardenburg syndrome type 4B Waardenburg syndrome with Hirschsprung disease type 4B Waardenburg syndrome type IVB Waardenburg syndrome caused by mutation in EDN3

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/613265

http://linkedlifedata.com/resource/umls/id/C2750457

http://identifiers.org/mesh/C567680

http://purl.obolibrary.org/obo/DOID_0110954

has related synonym

Waardenburg syndrome, type 4B

Waardenburg syndrome, type 4B, with Hirschsprung disease

id

MONDO:0013201

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0013201

Term relations