Leber congenital amaurosis 10

Preferred Label : Leber congenital amaurosis 10;

Symbol : LCA10;

CISMeF acronym : LCA10;

Type : Phenotype, molecular basis known;

Prefixed ID : #611755;

Details

Origin ID

611755;

UMLS CUI

C1857821;

Automatic exact mappings (from CISMeF team)
- Leber congenital amaurosis [ORDO Disease]
- centrosomal protein 290 [ORDO Gene]
- centrosomal protein 290 [HGNC gene]
Broader ORDO disease(s)
- Leber congenital amaurosis [ORDO Disease]
Currated CISMeF NLP mapping
- Leber congenital amaurosis 10 [DO Concept]
- leber congenital amaurosis 10 [MeSH concept]
- leber congenital amaurosis 10 [MeSH Supplementary Concept]
DO Cross reference
- Leber congenital amaurosis 10 [DO Concept]
Genes related to phenotype
- Centrosomal protein, 290-kd [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Hyposmia [HPO term]
- Seizure [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Leber congenital amaurosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Leber congenital amaurosis 10 [DO Concept]
- leber congenital amaurosis 10 [MeSH Supplementary Concept]
- leber congenital amaurosis 10 [MeSH concept]

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