Search Ontology:
Human Disease
autosomal dominant vitreoretinochoroidopathy
- Term ID
- DOID:0111569
- Synonyms
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- ADVIRC
- vitreoretinochoroidopathy dominant
- vitreoretinochoroidopathy with microcornea, glaucoma, and cataract
- Definition
- A hereditary retinal dystrophy characterized by abnormal chorioretinal hypopigmentation and hyperpigmentation typically lying between the vortex veins and the ora serrata for 360 degrees and other ocular developmental anomalies that has_material_basis_in heterozygous mutation in the BEST1 gene on chromosome 11q12.3. (2)
- References
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- GARD:5507
- MESH:C536352
- MIM:193220
- Ontology
- Human Disease ( DOID:0111569 )
- is a type of
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Genes Involved
Zebrafish Models