Simpson-Golabi-Behmel Syndrome Type 2
Disease ID: disease_node_20307
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:300209 |
|---|---|
| Subclassof | DOID_0080012, DOID_225 |
| Data Source | DOID |
| Doid Label | Simpson-Golabi-Behmel syndrome type 2 |
| Doid Description | A syndrome that has_material_basis_in mutation in the OFD1 gene on chromosome Xp22 and is characterized by developmental delay, macrocephaly, and respiratory problems. |
| Has Material Basis In | GENO_0000149 |
| Disease Node Id | disease_node_20307 |
| Doid Id | DOID_0080342 |
| Label | Simpson-Golabi-Behmel Syndrome Type 2 |
- Outgoing r'ship
SUBCLASS_OFto/from X-Linked Recessive Disease(ID:disease_node_13254) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease)