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triphalangeal thumb-polysyndactyly syndrome

Disease Summary
Associated Targets (1)
Tchem

1


Mondo Description Triphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a hand-foot malformation characterized by triphalangeal thumbs and pre- and postaxial polydactyly, isolated syndactyly or complex polysyndactyly.
Uniprot Description Autosomal dominant syndrome. It is characterized by a wide spectrum of pre- and post-axial abnormalities due to altered SHH expression pattern during limb development.
Mondo Term and Equivalent IDs
MONDO:0017454:  triphalangeal thumb-polysyndactyly syndrome
Orphanet:2950: 
UMLS:CN203197: