Waardenburg syndrome

Term ID

DOID:9258

Synonyms

• van der Hoeve Halbertsona Waardenburg syndrome
• Waardenburg Shah syndrome
• Waardenburg's 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. http://en.wikipedia.org/wiki/Waardenburg_syndrome

References

• GARD:5525
• MESH:D014849
• MIM:PS193500
• NCI:C75008
• NCI:C85222
• ORDO:3440
• ORDO:895
• SNOMEDCT_US_2023_03_01:1010606009
• SNOMEDCT_US_2023_03_01:190695000
• SNOMEDCT_US_2023_03_01:47434006
• UMLS_CUI:C0079661
• UMLS_CUI:C1847800
• UMLS_CUI:C3266898

Ontology

Human Disease   ( DOID:9258 )