Polydactyly, postaxial, type a8

Preferred Label : Polydactyly, postaxial, type a8;

Symbol : PAPA8;

CISMeF acronym : PAPA8;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the GLI family zinc finger 1 gene (GLI1, 165220.0001);

Prefixed ID : #618123;

Details

Origin ID

618123;

UMLS CUI

C4748277;

Genes related to phenotype
- Gli family zinc finger 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Congenital onset [HPO term]
- Genu valgum [HPO term]
- Nail dysplasia [HPO term]
- Postaxial polydactyly [HPO term]
- Short stature [HPO term]
ORDO concept(s)
- Ellis Van Creveld syndrome [ORDO Disease]
See also inter- (CISMeF)
- GLI1 wt Allele [NCIt concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients