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Metadata
DOID DOID:0110949
Name Waardenburg syndrome type 3
Definition A Waardenburg's syndrome characterized by upper limb anomalies, congenital hearing loss, dystopia canthorum and pigmentation anomalies of eyes, hair, and skin that has_material_basis_in heterozygous or homozygous mutation in the PAX3 gene on chromosome 2q36.
https://www.ncbi.nlm.nih.gov/pubmed/20127975, https://www.ncbi.nlm.nih.gov/pubmed/8447316
Synonyms

Klein-Waardenburg syndrome [EXACT]

Waardenburg syndrome type III [EXACT]

Waardenburg syndrome with upper limb anomalies [EXACT]

WS3 [EXACT]

Xrefs

GARD:5523

ICD10CM:E70.3

OMIM:148820

ORDO:896

Relationships

is_a Waardenburg's syndrome

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