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Metadata
ID DOID:0110329
Name Leber congenital amaurosis 6
Definition A Leber congenital amaurosis that is characterized by early photophobia, hypermetropia less than +7 diopters, and visual acuity in the range of 20/400 to count fingers and has_material_basis_in mutation in the RPGRIP1 gene on chromosome 14q11.
https://www.ncbi.nlm.nih.gov/pubmed/11283794
Xrefs

ICD10CM:H35.5

MESH:C565327

MIM:613826

Synonyms

LCA6 [EXACT]

Parent Relationships

is_a Leber congenital amaurosis

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

disease has basis in some Abnormality of prenatal development or birth

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