X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Disease ID: disease_node_13594
Connections displayed (default: 10).
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| Dbxref | MIM:300957, ORDO:457240 |
|---|---|
| Subclassof | DOID_0080012, DOID_0060309 |
| Data Source | DOID |
| Synonyms | MRX12, MRX35, X-linked mental retardation 12, X-linked mental retardation 35 |
| Doid Label | X-linked intellectual disability-short stature-overweight syndrome |
| Doid Description | A syndromic X-linked intellectual disability characterized by borderline to severe intellectual disability often associated with speech delay, short stature, elevated body mass index, and a truncal obesity pattern in older males that has_material_basis_in hemizygous mutation in the THOC2 gene on chromosome Xq25. |
| Has Material Basis In | GENO_0000149 |
| Disease Node Id | disease_node_13594 |
| Doid Id | DOID_0112056 |
| Label | X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from X-Linked Recessive Disease(ID:disease_node_13254) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndromic X-Linked Intellectual Disability(ID:disease_node_13590) (Disease)