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DO Term : Leber congenital amaurosis [DOID:14791] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness.
  • synonyms:
  • Leber's congenital amaurosis,
  • OMIM:PS204000,
  • UMLS_CUI:C0339527,
  • GARD:634,
  • SNOMEDCT_US_2023_03_01:193413001,
  • Leber's disease,
  • ORDO:65,
  • MESH:D057130,
  • LCA,
  • PS204000,
  • NCI:C129075,
  • Leber's amaurosis
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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