JSON

Waardenburg syndrome

Go to external page 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 ]

Synonyms: van der Hoeve Halbertsona Waardenburg syndrome Waardenburg syndrome Waardenburg's syndrome Waardenburg Shah syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • OMIMPS:193500 (MONDO:equivalentTo)
  • NCIT:C85222 (MONDO:equivalentTo)
  • ICD10CM:E70.3 (Orphanet:3440/ntbt)
  • MedDRA:10069203 (Orphanet:3440/e)
  • SCTID:715952000 (MONDO:equivalentTo)
  • Orphanet:3440 (MONDO:equivalentTo)
  • GARD:5525 (Orphanet:3440)
  • MESH:D014849 (https://orcid.org/0000-0003-1967-3726)
  • DOID:9258 (MONDO:equivalentTo)
  • NORD:1832 (MONDO:NORD)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

IAO 0000233

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

closeMatch

http://identifiers.org/meddra/10069203

exactMatch

https://omim.org/phenotypicSeries/PS193500

http://www.orpha.net/ORDO/Orphanet_3440

http://identifiers.org/snomedct/715952000

http://identifiers.org/mesh/D014849

http://purl.obolibrary.org/obo/DOID_9258

http://purl.obolibrary.org/obo/NCIT_C85222

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 narrow synonym

Waardenburg, types I and/or II

has related synonym

Van der Hoeve Halbertsma Waardenburg Gualdi syndrome

Mende syndrome

id

MONDO:0018094

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0018094