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Waardenburg syndrome type 3
Summary
- Synonym
-
- Klein-Waardenburg syndrome
- WS3
- Waardenburg syndrome type III
- Waardenburg syndrome with upper limb anomalies
- 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.
- Super Class
- Waardenburg syndrome
External Links
- Disease Ontology
- DOID:0110949
- Mondo Disease Ontology
-
- MONDO:0007862
- MONDO:0008244
- MONDO:0008670
- MONDO:0008962
- MONDO:0008963
- MONDO:0009196
- MONDO:0009767
- MONDO:0011872
- MONDO:0011997
- MONDO:0012220
- MONDO:0013559
- MONDO:0013560
- MONDO:0013606
- MONDO:0016501
- MONDO:0016502
- MONDO:0017305
- MONDO:0018094
- MONDO:0018133
- MONDO:0018306
- MONDO:0019312
- MONDO:0019517
- MONDO:0043209
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P22304 | Iduronate 2-sulfatase |
