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Ontology Browser

Preaxial Polydactyly I (DOID:9004978)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet 
Ectodermal Dysplasia, Alopecia, Preaxial Polydactyly 
Guttmacher syndrome  
Preaxial Hallucal Polydactyly 
Preaxial Polydactyly I  
Preaxial polydactyly, i.e., polydactyly on the radial side of the hand, is a heterogeneous category. Four types are: (1) thumb polydactyly, (2) polydactyly of triphalangeal thumb, (3) polydactyly of index finger, and (4) polysyndactyly. Preaxial polydactyly I (PPD1), 'thumb polydactyly,' involves duplication of 1 or more of the skeletal components of a biphalangeal thumb. Severity varies from mere broadening of the distal phalanx with slight bifurcation at the tip to full duplication of the thumb including the metacarpals. This type is the most frequent form of polydactyly in many populations. PPD1 is caused by homozygous mutation in the GLI1 gene on chromosome 12q13. (OMIM)
Preaxial Polydactyly II +   
Preaxial Polydactyly III 
Preaxial Polydactyly IV  

Exact Synonyms: POLYDACTYLY, PREAXIAL ;   PPD1 ;   Thumb polydactyly ;   preaxial polydactyly type 1
Narrow Synonyms: Fromont Anomaly
Primary IDs: MESH:C536332
Alternate IDs: OMIM:174400

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