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Metadata
ID DOID:0110291
Name Leber congenital amaurosis 10
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
Xrefs

ICD10CM:H35.5

OMIM:611755

Synonyms

LCA10 [EXACT]

Parent Relationships

is_a Leber congenital amaurosis

is_a monogenic disease

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