leber congenital amaurosis 3

Preferred Label : leber congenital amaurosis 3;

MeSH note : mutaions in SPATA7;

CISMeF synonym : retinitis pigmentosa, juvenile, SPATA7-Related;

Details

Origin ID

C565814;

UMLS CUI

C1858677;

Currated CISMeF NLP mapping
- Leber congenital amaurosis 3 [DO Concept]
- Leber congenital amaurosis 3 [OMIM Phenotype]
MeSH term(s) associated for indexing
- leber congenital amaurosis [MeSH Descriptor]
- retinitis pigmentosa [MeSH Descriptor]
Record concept(s)
- leber congenital amaurosis 3 [MeSH concept]
- retinitis pigmentosa, juvenile, SPATA7-Related [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Leber congenital amaurosis 3 [OMIM Phenotype]
- Leber congenital amaurosis 3 [DO Concept]

Keyword's position in hierarchy(ies) :

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