Leber congenital amaurosis 13

Preferred Label : Leber congenital amaurosis 13;

Symbol : LCA13;

CISMeF acronym : LCA13; RP53;

Type : Phenotype, molecular basis known;

Included titles and symbols : Retinitis pigmentosa 53; RP53;

Inheritance : Autosomal recessive; Autosomal dominant (in one RP53 family);

Molecular basis : Caused by mutation in the retinol dehydrogenase 12 gene (RDH12, 608830.0001);

Prefixed ID : #612712;

Details

Origin ID

612712;

UMLS CUI

C2675186;

Automatic exact mappings (from CISMeF team)
- Leber congenital amaurosis [ORDO Disease]
- retinol dehydrogenase 12 [ORDO Gene]
- retinol dehydrogenase 12 [HGNC gene]
Broader ORDO disease(s)
- Leber congenital amaurosis [ORDO Disease]
Currated CISMeF NLP mapping
- Leber congenital amaurosis 13 [DO Concept]
- leber congenital amaurosis 13 [MeSH concept]
- leber congenital amaurosis 13 [MeSH Supplementary Concept]
DO Cross reference
- Leber congenital amaurosis 13 [DO Concept]
Genes related to phenotype
- Retinol dehydrogenase 12 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Retinal dystrophy [HPO term]
ORDO concept(s)
- Leber congenital amaurosis [ORDO Disease]
- Retinitis pigmentosa [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Leber congenital amaurosis 13 [DO Concept]
- leber congenital amaurosis 13 [MeSH Supplementary Concept]
- leber congenital amaurosis 13 [MeSH concept]

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