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Metadata
ID DOID:0110331
Name Leber congenital amaurosis 3
Definition A Leber congenital amaurosis that has_material_basis_in mutation in the SPATA7 gene on chromosome 14q31.
https://www.ncbi.nlm.nih.gov/pubmed/19268277
Xrefs

ICD10CM:H35.5

MESH:C565814

OMIM:604232

Synonyms

LCA3 [EXACT]

Parent Relationships

is_a Leber congenital amaurosis

is_a monogenic disease

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