Arthrogryposis Multiplex Congenita-3
Disease ID: disease_node_20568
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:618484 |
|---|---|
| Subclassof | DOID_0080954 |
| Data Source | DOID |
| Doid Label | arthrogryposis multiplex congenita-3 |
| Doid Description | An arthrogryposis multiplex congenita that is characterized by decreased fetal movements, hypotonia, variable skeletal defects, including clubfoot and scoliosis, and delayed motor milestones with difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SYNE1 gene on chromosome 6q25. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20568 |
| Doid Id | DOID_0080979 |
| Label | Arthrogryposis Multiplex Congenita-3 |
- Outgoing r'ship
SUBCLASS_OFto/from Arthrogryposis Multiplex Congenita(ID:disease_node_20565) (Disease)