Sweeney-Cox Syndrome
Disease ID: disease_node_20115
Connections displayed (default: 10).
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| Dbxref | MIM:617746 |
|---|---|
| Subclassof | DOID_0050736, DOID_225 |
| Data Source | DOID |
| Doid Label | Sweeney-Cox syndrome |
| Doid Description | A syndrome that is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears and has_material_basis_in heterozygous mutation in the TWIST1 gene on chromosome 7p21. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_20115 |
| Doid Id | DOID_0080538 |
| Label | Sweeney-Cox Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)