Corneal dystrophy, posterior polymorphous, 4

Preferred Label : Corneal dystrophy, posterior polymorphous, 4;

Symbol : PPCD4;

CISMeF acronym : PPCD4;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the grainyhead-like 2 gene (GRHL2, 608576.0005);

Prefixed ID : #618031;

Details

Origin ID

618031;

UMLS CUI

C4747961;

Currated CISMeF NLP mapping
- posterior polymorphous corneal dystrophy 4 [DO Concept]
DO Cross reference
- posterior polymorphous corneal dystrophy 4 [DO Concept]
Genes related to phenotype
- Grainyhead-like 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Ectopia pupillae [HPO term]
- Reduced visual acuity [HPO term]
ORDO concept(s)
- Posterior polymorphous corneal dystrophy [ORDO Disease]
See also inter- (CISMeF)
- GRHL2 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Posterior polymorphous corneal dystrophy [ORDO Disease]

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