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. (3)

References

GARD:5525
MESH:D014849
NCI:C75008
NCI:C85222
OMIM:PS193500
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 )

Relationships

is a type of: autosomal dominant disease syndrome

autosomal dominant disease syndrome Show first 5 Terms
has subtype: Waardenburg syndrome type 1 Waardenburg syndrome type 2A Waardenburg syndrome type 2B Waardenburg syndrome type 2C Waardenburg syndrome type 2E ... Show All 9 Terms

Waardenburg syndrome type 1 Waardenburg syndrome type 2A Waardenburg syndrome type 2B Waardenburg syndrome type 2C Waardenburg syndrome type 2E Waardenburg syndrome type 3 Waardenburg syndrome type 4A Waardenburg syndrome type 4B Waardenburg syndrome type 4C Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations