amaurosis congenita of leber, type 5

Preferred Label : amaurosis congenita of leber, type 5;

MeSH synonym : leber congenital amaurosis, type 5; leber congenital amaurosis 5;

Origin ID

C536602;

UMLS CUI

C1858301;

Currated CISMeF NLP mapping
- Leber congenital amaurosis 5 [DO Concept]
- Leber congenital amaurosis 5 [OMIM Phenotype]
- lebercilin LCA5 [ORDO Gene]
MeSH term(s) associated for indexing
- leber congenital amaurosis [MeSH Descriptor]
Record concept(s)
- Amaurosis congenita of Leber, type 5 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Leber congenital amaurosis 5 [OMIM Phenotype]
- Leber congenital amaurosis 5 [DO Concept]
- lebercilin LCA5 [ORDO Gene]