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DO Term : Leber congenital amaurosis 13 [DOID:0110330] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A Leber congenital amaurosis thatis characterized by mild or absent hyperopia, transient improvement of visual acuity, and eventual macular atrophy with severe disease progression and has_material_basis_in mutation in the RDH12 gene on chromosome 14q23.3.
  • synonyms:
  • 612712,
  • MESH:C567197,
  • OMIM:612712,
  • LCA13,
  • ICD10CM:H35.5
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents