Blepharophimosis-Impaired Intellectual Development Syndrome
Disease ID: disease_node_20078
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:619293, ORDO:637013 |
|---|---|
| Subclassof | DOID_0050736, DOID_225 |
| Data Source | DOID |
| Synonyms | SMARCA2-related blepharophimosis-intellectual disability syndrome |
| Doid Label | blepharophimosis-impaired intellectual development syndrome |
| Doid Description | A syndrome that is characterized by a distinct facial appearance with blepharophimosis and global development delay and that has_material_basis_in heterozygous mutation in the SMARCA2 gene on chromosome 9p24. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_20078 |
| Doid Id | DOID_0081442 |
| Label | Blepharophimosis-Impaired Intellectual Development 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)