Macular dystrophy, patterned, 2

Preferred Label : Macular dystrophy, patterned, 2;

Symbol : MDPT2;

CISMeF acronym : MDPT2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Macular dystrophy, butterfly-shaped pigmentary, 2;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the alpha-1 catenin gene (CTNNA1, 116805.0001);

Prefixed ID : #608970;

Détails

Origin ID

608970;

UMLS CUI

C1837029;

Automatic exact mappings (from CISMeF team)
- CTNNA1 wt Allele [NCIt concept]
CISMeF manual mappings
- patterned macular dystrophy 2 [DO Concept]
Currated CISMeF NLP mapping
- Butterfly-shaped pigment dystrophy [ORDO Disease]
- macular dystrophy, Butterfly-Shaped pigmentary, 2 [MeSH concept]
DO Cross reference
- patterned macular dystrophy 2 [DO Concept]
Genes related to phenotype
- Catenin, alpha-1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Drusen [HPO term]
- Foveal hyperpigmentation [HPO term]
ORDO concept(s)
- Butterfly-shaped pigment dystrophy [ORDO Disease]
See also inter- (CISMeF)
- Butterfly-shaped pigmentary macular dystrophy (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Butterfly-shaped pigment dystrophy [ORDO Disease]
- macular dystrophy, Butterfly-Shaped pigmentary, 2 [MeSH concept]
- patterned macular dystrophy 2 [DO Concept]
Validated automatic mappings to NTBT
- patterned dystrophy of retinal pigment epithelium [MeSH Supplementary Concept]

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