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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
ocular albinism with sensorineural deafness
Summary
- Synonym
-
- WS2-OA
- autosomal recessive Waardenburg syndrome type 2 with ocular albinism
- digenic Waardenburg syndrome/albinism
- digenic Waardenburg syndrome/ocular albinism
- Definition
- An ocular albinism that is characterized by deafness and vestibular dysfunction and has_material_basis_in digenic inheritane of a mutation in the transcription factor gene MITF on chromosome 3p13 and in the tyrosinase TYR gene on chromosome 11q14.3 that MITF regulates.
- Super Class
- autosomal dominant disease digenic disease ocular albinism 1
External Links
- Disease Ontology
- DOID:0090100
- 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
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P22304 | Iduronate 2-sulfatase |
