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Metadata
ID DOID:0081169
PURL http://purl.obolibrary.org/obo/DOID_0081169 Copy
Name Leber congenital amaurosis 19
Definition A Leber congenital amaurosis that has_material_basis_in mutation in the USP45 gene on chromosome 6q16.
https://pubmed.ncbi.nlm.nih.gov/3057356/
Xrefs

MIM:618513

SKOS

exactMatch MIM:618513

Parent Relationships

is_a Leber congenital amaurosis

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