Bainbridge-Ropers Syndrome
Disease ID: disease_node_20096
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| Dbxref | GARD:13259, MIM:615485, ORDO:352577 |
|---|---|
| Subclassof | DOID_0050736, DOID_225 |
| Data Source | DOID |
| Synonyms | ASXL3-related disorder |
| Doid Label | Bainbridge-Ropers syndrome |
| Doid Description | A syndrome that is characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, hypotonia, feeding difficulties, poor growth, and dysmorphic facial features and that has_material_basis_in heterozygous mutation in the ASXL3 gene on chromosome 18q12. |
| Has Material Basis In | GENO_0000147, SO_0002054 |
| Disease Node Id | disease_node_20096 |
| Doid Id | DOID_0080893 |
| Label | Bainbridge-Ropers 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)