JSON

Leber congenital amaurosis

Go to external page 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 ]

Synonyms: Leber's disease amaurosis congenita of Leber Leber congenital amaurosis Leber's congenital amaurosis Leber's amaurosis LCA

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS:C0339527 (Orphanet:65/e)
  • DOID:14791 (MONDO:equivalentTo)
  • NCIT:C129075 (MONDO:equivalentTo)
  • NORD:1351 (MONDO:NORD)
  • ICD10CM:H35.5 (Orphanet:65/ntbt)
  • GARD:634 (Orphanet:65)
  • MESH:D057130 (Orphanet:65/e)
  • MedDRA:10070667 (Orphanet:65/e)
  • Orphanet:65 (MONDO:equivalentTo)
  • SCTID:193413001 (MONDO:equivalentTo)
  • OMIMPS:204000 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare

IAO 0000233

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

closeMatch

http://identifiers.org/meddra/10070667

exactMatch

http://identifiers.org/mesh/D057130

http://purl.obolibrary.org/obo/NCIT_C129075

http://www.orpha.net/ORDO/Orphanet_65

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 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