Corneal dystrophy, posterior polymorphous, 2

Preferred Label : Corneal dystrophy, posterior polymorphous, 2;

Symbol : PPCD2;

CISMeF acronym : PPCD2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the collagen type VIII alpha-2 gene (120252.0001);

Prefixed ID : #609140;

Details

Origin ID

609140;

UMLS CUI

C1852795;

Currated CISMeF NLP mapping
- corneal dystrophy, posterior polymorphous, 2 [MeSH concept]
- corneal dystrophy, posterior polymorphous, 2 [MeSH Supplementary Concept]
- posterior polymorphous corneal dystrophy 2 [DO Concept]
DO Cross reference
- posterior polymorphous corneal dystrophy 2 [DO Concept]
Genes related to phenotype
- Collagen, type VIII, alpha-2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Corneal dystrophy [HPO term]
- Corneal opacity [HPO term]
ORDO concept(s)
- Posterior polymorphous corneal dystrophy [ORDO Disease]
See also inter- (CISMeF)
- collagen type VIII alpha 2 chain [ORDO Gene]
- collagen type VIII alpha 2 chain [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- corneal dystrophy, posterior polymorphous, 2 [MeSH Supplementary Concept]
- corneal dystrophy, posterior polymorphous, 2 [MeSH concept]
- posterior polymorphous corneal dystrophy 2 [DO Concept]
Validated automatic mappings to NTBT
- Posterior polymorphous corneal dystrophy [ORDO Disease]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients