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Metadata
ID DOID:0110188
Name Leber congenital amaurosis 14
Definition A Leber congenital amaurosis that has_material_basis_in mutation in the LRAT gene on chromosome 4q31.
https://www.ncbi.nlm.nih.gov/pubmed/17011878
Xrefs

ICD10CM:H35.5

MESH:C567636

OMIM:613341

Synonyms

LCA14 [EXACT]

Parent Relationships

is_a Leber congenital amaurosis

is_a autosomal recessive disease

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