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Waardenburg-Shah syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0019518

Waardenburg-Shah syndrome (WSS) is a neurocristopathy characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease. [ Orphanet:897 ]

Synonyms: Waardenburg-Shah syndrome Waardenburg syndrome type 4 Waardenburg syndrome type IV Waardenburg-Hirschsprung syndrome Shah-Waardenburg syndrome WS4

This is just here as a test because I lose it

Term information

database cross reference
  • NCIT:C124842 (MONDO:equivalentTo)
  • GARD:5524 (Orphanet:897)
  • Orphanet:897 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare

IAO 0000233

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

exactMatch

http://purl.obolibrary.org/obo/NCIT_C124842

http://www.orpha.net/ORDO/Orphanet_897

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0005328

http://purl.obolibrary.org/obo/MONDO_0019290

has related synonym

Hirschsprung disease with pigmentary anomaly

Waardenburg-Hirschsprung disease

id

MONDO:0019518

seeAlso

https://rarediseases.info.nih.gov/diseases/5524/waardenburg-syndrome-type-4