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Disease Ontology Browser
Pierpont syndrome (DOID:0081362)
Alliance: disease page
Synonyms: Plantar lipomatosis-facial dysmorphism-developmental delay syndrome; Plantar lipomatosis-unusual facies-developmental delay syndrome
Alt IDs: OMIM:602342, ORDO:487825
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.

Disease References using Mouse Models (1)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory