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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Waardenburg syndrome type 1
Summary
- Synonym
-
- WS1
- Waardenburg syndrome type I
- Definition
- A Waardenburg syndrome characterized by autosomal dominant inheritance of congenital deafness, pigmentation anomalies of eyes, hair, and skin,and dystopia canthorum that has_material_basis_in heterozygous mutation in the PAX3 gene on chromosome 2q36.
- Super Class
- Waardenburg syndrome
External Links
- Disease Ontology
- DOID:0110948
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P05187 | Alkaline phosphatase, placental type | |
| P16442 | Histo-blood group ABO system transferase |
