Pierpont Syndrome
Disease ID: disease_node_16471
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| Dbxref | MIM:602342, ORDO:487825 |
|---|---|
| Subclassof | DOID_0060307 |
| Data Source | DOID |
| Synonyms | Plantar lipomatosis-facial dysmorphism-developmental delay syndrome, Plantar lipomatosis-unusual facies-developmental delay syndrome |
| Doid Label | Pierpont syndrome |
| Doid Description | An autosomal domit 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 Node Id | disease_node_16471 |
| Doid Id | DOID_0081362 |
| Label | Pierpont Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Intellectual Developmental Disorder(ID:disease_node_16455) (Disease)