Search Ontology:
Human Disease

Leber congenital amaurosis 5

Term ID
DOID:0110215
Synonyms
  • LCA5
Definition
A Leber congenital amaurosis that is characterized by severe visual dysfunction, nystagmus, the oculodigital sign, and a normal fundus with onset in infancy and has_material_basis_in mutation in the LCA5 gene on chromosome 6q14.1. https://www.ncbi.nlm.nih.gov/pubmed/17546029
References
Ontology
Human Disease   ( DOID:0110215 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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