Stickler Syndrome 1
Disease ID: disease_node_20110
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:108300, ORDO:90653 |
|---|---|
| Subclassof | DOID_0080046, DOID_0050736 |
| Data Source | DOID |
| Doid Label | Stickler syndrome 1 |
| Doid Description | A Stickler syndrome that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_20110 |
| Doid Id | DOID_0080676 |
| Label | Stickler Syndrome 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Stickler Syndrome(ID:disease_node_20111) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)