Polydactyly, preaxial I

Preferred Label : Polydactyly, preaxial I;

Symbol : PPD1;

CISMeF acronym : PPD1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Thumb polydactyly; Polydactyly, preaxial;

Included titles and symbols : Thenar hypoplasia; Fromont anomaly;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the glioma-associated oncogene homolog (GLI1, 165220.0004);

Prefixed ID : #174400;

Details

Origin ID

174400;

UMLS CUI

C1395852;

Automatic exact mappings (from CISMeF team)
- Polydactyly of a biphalangeal thumb [ORDO Disease]
- Polydactyly of the thumb [ICD-11 Subcategory]
- Polydactyly of thumb (disorder) [SNOMED CT concept]
- Polydactyly preaxial type 1 [MeSH concept]
- Preaxial hand polydactyly [HPO term]
- Preaxial polydactyly [HPO term]
- Radial polydactyly (disorder) [SNOMED CT concept]
- Small thenar eminence [HPO term]
- polydactyly preaxial type 1 [MeSH Supplementary Concept]
Genes related to phenotype
- Gli family zinc finger 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Partial duplication of thumb phalanx [HPO term]
- Preaxial hand polydactyly [HPO term]
- Radial deviation of thumb terminal phalanx [HPO term]
ORDO concept(s)
- Polydactyly of a biphalangeal thumb [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Accessory thumb(s) [ICD-10 Sub-category]
- Polydactyly of a biphalangeal thumb [ORDO Disease]
- Polydactyly of the thumb [ICD-11 Subcategory]
- Polydactyly of thumb (disorder) [SNOMED CT concept]
- Polydactyly preaxial type 1 [MeSH concept]
- Preaxial hand polydactyly [HPO term]
- polydactyly preaxial type 1 [MeSH Supplementary Concept]

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