Williams Syndrome
Disease ID: disease_node_9850
Connections displayed (default: 10).
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| Dbxref | ICD10CM:Q93.82, MESH:D018980, MIM:194050, NCI:C85232, SNOMEDCT_US_2023_03_01:63247009, UMLS_CUI:C0175702 |
|---|---|
| Subclassof | DOID_0050736, DOID_225, DOID_0060388 |
| Data Source | DOID, MESH |
| Synonyms | Fanconi Schlesinger syndrome, WBS |
| Mesh Id | D018980 |
| Mesh Label | Williams Syndrome |
| Mesh Subclassof | D008607, D021921, D025063 |
| Doid Label | Williams-Beuren syndrome |
| Doid Description | A syndrome that is characterized by mild to moderate intellectual disability, a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips and difficulty with visual-spatial tasks and has_material_basis_in hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23. OMIM mapping confirmed by DO. [LS]. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_9850 |
| Doid Id | DOID_1928 |
| Label | Williams Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Chromosomal Deletion Syndrome(ID:disease_node_15239) (Disease)