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DO Term : Leber congenital amaurosis 1 [DOID:0110078] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A Leber congenital amaurosis characterized by severe cone-rod dystrophy with photophobia, high hyperopia, and poor but stable vision with no visual improvement and that has_material_basis_in mutation in the GUCY2D gene on chromosome 17p13.
  • synonyms:
  • amaurosis congenita of Leber I,
  • LCA1,
  • 204000,
  • ICD10CM:H35.5,
  • OMIM:204000
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Ontology

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Ontology Term --> Direct children

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