Search Ontology:
Human Disease
Leber congenital amaurosis 2
- Term ID
- DOID:0110016
- Synonyms
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- amaurosis congenita of Leber II
- LCA2
- Definition
- A Leber congenital amaurosis that is characterized by night blindness, some transient improvement in vision, and eventual progressive visual loss and has_material_basis_in mutation in the RPE65 gene on chromosome 1. https://www.ncbi.nlm.nih.gov/pubmed/9326927
- References
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- ICD10CM:H35.5
- MIM:204100
- Ontology
- Human Disease ( DOID:0110016 )
- is a type of
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Genes Involved
Zebrafish Models