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Metadata
ID DOID:0060986
Name preaxial polydactyly II
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/
Xrefs

GARD:5289

MIM:174500

ORDO:93336

Subsets

DO_rare_slim

Synonyms

polydactyly of a triphalangeal thumb [EXACT]

Parent Relationships

is_a polydactyly

is_a autosomal dominant disease

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