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Waardenburg syndrome type 3

Go to external page http://purl.obolibrary.org/obo/MONDO_0007862

Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin. [ Orphanet:896 ]

Synonyms: Klein-Waardenburg syndrome WS3 Waardenburg syndrome with upper limb anomalies Waardenburg syndrome with limb anomalies Waardenburg syndrome type III

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:896 (OMIM:148820)
  • ICD10CM:E70.3 (Orphanet:896/ntbt)
  • DOID:0110949 (MONDO:equivalentTo)
  • GARD:5523 (MONDO:GARD)
  • UMLS:C0079661 (MONDO:equivalentTo)
  • OMIM:148820 (Orphanet:896/e)
  • MEDGEN:86948 (MONDO:equivalentTo)
Subsets

gard_rare, otar, rare, ordo_subtype_of_a_disorder, nord_rare

exactMatch

http://www.orpha.net/ORDO/Orphanet_896

http://identifiers.org/medgen/86948

https://omim.org/entry/148820

http://linkedlifedata.com/resource/umls/id/C0079661

http://purl.obolibrary.org/obo/DOID_0110949

has related synonym

White forelock (poliosis) syndrome with multiple congenital malformations

Waardenburg syndrome, type 3

id

MONDO:0007862

seeAlso

https://rarediseases.info.nih.gov/diseases/5523/waardenburg-syndrome-type-3

Term relations

Subclass of: