Search Ontology:
Human Disease

Leber congenital amaurosis 1

Term ID
DOID:0110078
Synonyms
  • amaurosis congenita of Leber I
  • LCA1
Definition
A Leber congenital amaurosis characterized by severe cone-rod dystrophy with photophobia, high hyperopia, and poor but stable vision with no visual improvement and that has_material_basis_in mutation in the GUCY2D gene on chromosome 17p13. https://www.ncbi.nlm.nih.gov/pubmed/8944027
References
Ontology
Human Disease   ( DOID:0110078 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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