Pierpont syndrome

Summary

DOID:0081362 - Pierpont syndrome

Disease Ontology Definition:An autosomal dominant intellectual developmental disorder that is characterized by distinctive facial characteristics, especially when smiling, plantar fat pads, and other limb anomalies and that has_material_basis_in heterozygous mutation in the TBL1XR1 gene on chromosome 3q26.

Synonyms: Plantar lipomatosis-facial dysmorphism-developmental delay syndrome, Plantar lipomatosis-unusual facies-developmental delay syndrome

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: tbl1xr1

MIM:

MIM:602342 - PIERPONT SYNDROME; PRPTS

MIM:602342 - PIERPONT SYNDROME; PRPTS

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view

Parent(s): autosomal dominant intellectual developmental disorder (is_a)