You are using an outdated browser. Please upgrade your browser to improve your experience.
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.
Download Data for triphalangeal thumb-polysyndactyly syndrome
data still loading...
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
Orphanet:2950
UMLS:CN203197
MONDO:0017454
High level summary of knowledge for a disease, including descriptions and datasource references.