preaxial polydactyly II

Term ID

DOID:0060986

Synonyms

• polydactyly of a triphalangeal thumb

Definition

A polydactyly characterized by the presence of 3 phalanges within the thumb that has_material_basis_in heterozygous mutation in the ZRS, a regulatory element of SHH, on chromosome 7q36. https://pubmed.ncbi.nlm.nih.gov/8012392/

References

• GARD:5289
• MIM:174500
• ORDO:93336

Ontology

Human Disease   ( DOID:0060986 )