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General Information
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| Term |
Waardenburg syndrome type 3 |
ID (Ontology) |
DOID:0110949 (Human Disease) |
| Definition |
A Waardenburg 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. |
| Also Known As |
"Klein-Waardenburg syndrome" ; "Waardenburg syndrome type III" ; "Waardenburg syndrome with upper limb anomalies" (for all, see Synonyms field below) |
| Comment |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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No relevant records available
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes |
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Waardenburg syndrome type 3 | 5 | for disease ribbon | Waardenburg syndrome type 3 | 5 | model of | Waardenburg syndrome type 3 | 5 |
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Relationships