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DO Term : Leber congenital amaurosis 10 [DOID:0110291] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A Leber congenital amaurosis that is characterized by severe infantile-onset cone-rod dystrophy with high hyperopia and severe ERG abnormalities and has_material_basis_in mutation in the CEP290 gene on chromosome 12q21.32.
  • synonyms:
  • MESH:C565720,
  • OMIM:611755,
  • 611755,
  • LCA10,
  • 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