Search Ontology:
Human Disease

Leber congenital amaurosis 10

Term ID
DOID:0110291
Synonyms
  • LCA10
Definition
A Leber congenital amaurosis that is characterized by severe infantile-onset cone-rod dystrophy with high hyperopia and severe ERG abnormalities and has_material_basis_in mutation in the CEP290 gene on chromosome 12q21.32. https://www.ncbi.nlm.nih.gov/pubmed/16909394
References
Ontology
Human Disease   ( DOID:0110291 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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