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DO Term : Leber congenital amaurosis 6 [DOID:0110329] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • ICD10CM:H35.5,
  • MESH:C565327,
  • OMIM:613826,
  • LCA6,
  • 613826
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