OBO ID: DOID:9258
Term Name: Waardenburg's syndrome Search Ontology:
Synonyms:
  • van der Hoeve Halbertsona Waardenburg syndrome
  • Waardenburg Shah syndrome
  • Waardenburg syndrome
  • Waardenburg, types I and/or II
Definition: A syndrome characterized by varying degrees of deafness, minor defects in structures arising from the neural crest and pigmentation anomalies of the hair, the skin and/or the iris of both eyes. (3)
References:
  • GARD:5525
  • MESH:D014849
  • NCI:C75008
  • NCI:C85222
  • OMIM:PS193500
  • ORDO:3440
  • ORDO:895
  • SNOMEDCT_US_2021_03_01:1010606009
  • SNOMEDCT_US_2021_03_01:1010638004
  • SNOMEDCT_US_2021_03_01:47434006
  • UMLS_CUI:C0079661
  • UMLS_CUI:C1847800
  • UMLS_CUI:C3266898
Ontology: Human Disease   (DOID:9258)
OTHER Waardenburg's syndrome PAGES
GENES INVOLVED No data available
PHENOTYPE No data available

CITATIONS (2)