Search Ontology:
Human Disease
Pierpont syndrome
- Term ID
- DOID:0081362
- Synonyms
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- Plantar lipomatosis-facial dysmorphism-developmental delay syndrome
- Plantar lipomatosis-unusual facies-developmental delay syndrome
- 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. (2)
- References
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- MIM:602342
- ORDO:487825
- Ontology
- Human Disease ( DOID:0081362 )
- is a type of
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Genes Involved
Zebrafish Models