Polydactyly, preaxial iv

Preferred Label : Polydactyly, preaxial iv;

Symbol : PPD4;

CISMeF acronym : CP1; PPD4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Polysyndactyly, uncomplicated;

Included titles and symbols : Crossed polydactyly, type I; CP1;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the GLI-Kruppel family member-3 gene (GLI3, 165240.0004);

Prefixed ID : #174700;

Details

Origin ID

174700;

UMLS CUI

C1868111;

Automatic exact mappings (from CISMeF team)
- Polydactyly, preaxial 4 [MeSH concept]
- Polysyndactyly [ORDO Disease]
- crossed polydactyly, type I [MeSH Supplementary Concept]
- crossed polydactyly, type I [MeSH concept]
- polydactyly, preaxial 4 [MeSH Supplementary Concept]
DO Cross reference
- polydactyly [DO Concept]
Genes related to phenotype
- Gli-kruppel family member 3 [OMIM gene]
HPO term(s)
- 1-5 toe syndactyly [HPO term]
- 3-4 finger syndactyly [HPO term]
- Abnormal earlobe morphology [HPO term]
- Autosomal dominant inheritance [HPO term]
- Duplication of thumb phalanx [HPO term]
- Dysplastic distal thumb phalanges with a central hole [HPO term]
- Preaxial polydactyly [HPO term]
ORDO concept(s)
- Polysyndactyly [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Polydactyly, preaxial 4 [MeSH concept]
- polydactyly, preaxial 4 [MeSH Supplementary Concept]

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