Schaaf-Yang Syndrome
Disease ID: disease_node_20244
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| Dbxref | GARD:13316, MIM:615547, ORDO:398069, SNOMEDCT_US_2023_03_01:770680004, UMLS_CUI:C3809877 |
|---|---|
| Subclassof | DOID_225 |
| Data Source | DOID |
| Synonyms | MAGEL2-related PWLS, MAGEL2-related Prader-Willi-like syndrome, PWLS, SHFYNG |
| Doid Label | Schaaf-Yang syndrome |
| Doid Description | A syndrome characterized by delayed psychomotor development, impaired intellectual development, hypotonia, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the maternally imprinted gene MAGEL2 on chromosome 15q11.2. |
| Disease Node Id | disease_node_20244 |
| Doid Id | DOID_0111715 |
| Label | Schaaf-Yang Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease)