Macular dystrophy, retinal, 2

Preferred Label : Macular dystrophy, retinal, 2;

Symbol : MCDR2;

CISMeF acronym : MCDR2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the prominin 1 gene (PROM1, 604365.0003);

Prefixed ID : #608051;

Details

Origin ID

608051;

UMLS CUI

C4749334;

Automatic exact mappings (from CISMeF team)
- AKR1C2 wt Allele [NCIt concept]
- aldo-keto reductase family 1 member C2 [ORDO Gene]
- aldo-keto reductase family 1 member C2 [HGNC gene]
- symbol withdrawn MCDR2 [HGNC gene]
Currated CISMeF NLP mapping
- Bull's eye macular dystrophy (disorder) [SNOMED CT concept]
- Retinal macular dystrophy type 2 [ORDO Disease]
- Retinal macular dystrophy type 2 (disorder) [SNOMED CT concept]
- macular dystrophy, retinal, 2 [MeSH concept]
- macular dystrophy, retinal, 2 [MeSH Supplementary Concept]
Genes related to phenotype
- Prominin 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Central scotoma [HPO term]
- Dyschromatopsia [HPO term]
- Gradual progressive loss of central visual acuity [HPO term]
- Granular macular appearance [HPO term]
- Macular dystrophy [HPO term]
- Perifoveal ring of hyperautofluorescence [HPO term]
- Reduced visual acuity [HPO term]
- Retinal pigment epithelial atrophy [HPO term]
ORDO concept(s)
- Retinal macular dystrophy type 2 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bull's eye macular dystrophy (disorder) [SNOMED CT concept]
- Retinal macular dystrophy type 2 [ORDO Disease]
- Retinal macular dystrophy type 2 (disorder) [SNOMED CT concept]
- macular dystrophy, retinal, 2 [MeSH Supplementary Concept]
- macular dystrophy, retinal, 2 [MeSH concept]

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