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Leber congenital amaurosis

^ http://purl.obolibrary.org/obo/MONDO_0018998

Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life. [ Orphanet:65 ]

Term info

database cross reference
  • SCTID:193413001 (MONDO:equivalentTo)
  • UMLS:C0339527 (Orphanet:65/e)
  • MedDRA:10070667 (Orphanet:65/e)
  • GARD:0000634 (MONDO:equivalentTo)
  • Orphanet:65 (MONDO:equivalentTo)
  • NCIT:C129075 (MONDO:equivalentTo)
  • OMIMPS:204000 (MONDO:equivalentTo)
  • MESH:D057130 (Orphanet:65/e)
  • DOID:14791 (MONDO:equivalentTo)
  • ICD10CM:H35.5 (Orphanet:65/ntbt)
Subsets

ordo_disease

abbreviation
LCA [ DOID:14791 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4069

closeMatch

http://identifiers.org/meddra/10070667

definition

Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life.

exactMatch

http://identifiers.org/mesh/D057130, http://purl.obolibrary.org/obo/Orphanet_65, http://purl.obolibrary.org/obo/NCIT_C129075, http://purl.obolibrary.org/obo/DOID_14791, http://identifiers.org/snomedct/193413001, https://omim.org/phenotypicSeries/PS204000, http://linkedlifedata.com/resource/umls/id/C0339527

has exact synonym

Leber's disease, amaurosis congenita of Leber, Leber congenital amaurosis, Leber's congenital amaurosis, LCA, Leber's amaurosis

has related synonym

Leber's congenital tapetoretinal dysplasia, congenital absence of the rods and cones, congenital retinal blindness, Leber's congenital tapetoretinal degeneration

id

MONDO:0018998