Leber congenital amaurosis 12

Preferred Label : Leber congenital amaurosis 12;

Symbol : LCA12;

CISMeF acronym : LCA12;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the retinal degeneration-3 gene (RD3, 180040.0001);

Prefixed ID : #610612;

Details

Origin ID

610612;

UMLS CUI

C1857743;

Automatic exact mappings (from CISMeF team)
- Leber congenital amaurosis [ORDO Disease]
- RD3 regulator of GUCY2D [ORDO Gene]
- RD3 regulator of GUCY2D [HGNC gene]
Broader ORDO disease(s)
- Leber congenital amaurosis [ORDO Disease]
Currated CISMeF NLP mapping
- Leber congenital amaurosis 12 [DO Concept]
- leber congenital amaurosis 12 [MeSH concept]
- leber congenital amaurosis 12 [MeSH Supplementary Concept]
DO Cross reference
- Leber congenital amaurosis 12 [DO Concept]
Genes related to phenotype
- Rd3 regulator of gucy2d [OMIM gene]
HPO term(s)
- Abnormality of macular pigmentation [HPO term]
- Autosomal recessive inheritance [HPO term]
- Congenital blindness [HPO term]
- Nystagmus [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 12 [DO Concept]
- leber congenital amaurosis 12 [MeSH Supplementary Concept]
- leber congenital amaurosis 12 [MeSH concept]

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