OBO ID: DOID:0110291
Term Name: Leber congenital amaurosis 10 Search Ontology:
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 Leber congenital amaurosis 10 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CEP290 Leber congenital amaurosis 10 611755
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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