loading...| Preferred Name |
Leber congenital amaurosis |
| Synonyms |
amaurosis congenita of Leber congenital absence of the rods and cones Leber's congenital amaurosis congenital retinal blindness Leber congenital amaurosis LCA Leber's congenital tapetoretinal degeneration Leber's amaurosis Leber's congenital tapetoretinal dysplasia Leber's disease |
| Definitions |
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. |
| ID |
http://purl.obolibrary.org/obo/MONDO_0018998 |
| closeMatch | |
| database_cross_reference |
MedDRA:10070667 Orphanet:65 UMLS:C0339527 OMIMPS:204000 MESH:D057130 SCTID:193413001 NCIT:C129075 DOID:14791 ICD10CM:H35.5 GARD:0000634 |
| 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 https://omim.org/phenotypicSeries/PS204000 http://purl.obolibrary.org/obo/DOID_14791 http://purl.obolibrary.org/obo/NCIT_C129075 http://linkedlifedata.com/resource/umls/id/C0339527 |
| has_exact_synonym |
amaurosis congenita of Leber Leber's congenital amaurosis Leber congenital amaurosis LCA Leber's amaurosis Leber's disease |
| has_related_synonym |
congenital absence of the rods and cones congenital retinal blindness Leber's congenital tapetoretinal degeneration Leber's congenital tapetoretinal dysplasia |
| IAO_0000233 | |
| id |
MONDO:0018998 |
| in_subset | |
| label |
Leber congenital amaurosis |
| notation |
MONDO:0018998 |
| prefLabel |
Leber congenital amaurosis |
| treeView |
http://purl.obolibrary.org/obo/MONDO_0020210 http://purl.obolibrary.org/obo/MONDO_0019118 |
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0020210 http://purl.obolibrary.org/obo/MONDO_0019118 |