Coffin-Lowry Syndrome
Disease ID: disease_node_11156
Connections displayed (default: 10).
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| Dbxref | GARD:6123, MESH:D038921, MIM:303600, NCI:C84643, SNOMEDCT_US_2023_03_01:15182000, UMLS_CUI:C0265252 |
|---|---|
| Subclassof | DOID_225, DOID_0080009 |
| Data Source | DOID, MESH |
| Mesh Id | D038921 |
| Mesh Label | Coffin-Lowry Syndrome |
| Mesh Subclassof | D038901 |
| Doid Label | Coffin-Lowry syndrome |
| Doid Description | A syndrome that is characterized by skeletal malformations, growth retardation, hearing deficit, paroxysmal movement disorders, and cognitive impairment in affected males and some carrier females, and has_material_basis_in mutation in the RSK2 gene on chromosome Xp22. OMIM mapping confirmed by DO. [SN]. |
| Has Material Basis In | GENO_0000146 |
| Disease Node Id | disease_node_11156 |
| Doid Id | DOID_3783 |
| Label | Coffin-Lowry Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from X-Linked Domit Disease(ID:disease_node_13587) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease)