JSON

Waardenburg syndrome

^ http://purl.obolibrary.org/obo/MONDO_0018094

A disorder characterized by varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes. [ Orphanet:3440 ]

Term info

database cross reference
  • ICD10CM:E70.3 (Orphanet:3440/ntbt)
  • DOID:9258 (MONDO:equivalentTo)
  • NCIT:C85222 (MONDO:equivalentTo)
  • GARD:0005525 (MONDO:equivalentTo)
  • Orphanet:3440 (MONDO:equivalentTo)
  • MedDRA:10069203 (Orphanet:3440/e)
  • MESH:D014849 (https://orcid.org/0000-0003-1967-3726)
  • SCTID:715952000 (MONDO:equivalentTo)
  • OMIMPS:193500 (MONDO:equivalentTo)
Subsets

ordo_disease, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/5682

closeMatch

http://identifiers.org/meddra/10069203

definition

A disorder characterized by varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes.

exactMatch

https://omim.org/phenotypicSeries/PS193500, http://identifiers.org/snomedct/715952000, http://identifiers.org/mesh/D014849, http://purl.obolibrary.org/obo/DOID_9258, http://purl.obolibrary.org/obo/NCIT_C85222, http://purl.obolibrary.org/obo/Orphanet_3440

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0015368, http://purl.obolibrary.org/obo/MONDO_0019290, http://purl.obolibrary.org/obo/MONDO_0020191, http://purl.obolibrary.org/obo/MONDO_0020276

has exact synonym

van der Hoeve Halbertsona Waardenburg syndrome, Waardenburg syndrome, Waardenburg's syndrome, Waardenburg Shah syndrome

has narrow synonym

Waardenburg, types I and/or II

has related synonym

Mende syndrome, Van der Hoeve Halbertsma Waardenburg Gualdi syndrome

id

MONDO:0018094