Arthrogryposis Multiplex Congenita-6
Disease ID: disease_node_20570
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| Dbxref | MIM:619334 |
|---|---|
| Subclassof | DOID_0080954 |
| Data Source | DOID |
| Doid Label | arthrogryposis multiplex congenita-6 |
| Doid Description | An arthrogryposis multiplex congenita characterized by congenital joint contractures, dysmorphic facial features, distal skeletal anomalies with clenched hands and clubfeet, and edema with fetal hydrops and that has_material_basis_in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23. |
| Existence Starts During | HP_0003577 |
| Disease Node Id | disease_node_20570 |
| Doid Id | DOID_0070336 |
| Label | Arthrogryposis Multiplex Congenita-6 |
- Outgoing r'ship
SUBCLASS_OFto/from Arthrogryposis Multiplex Congenita(ID:disease_node_20565) (Disease)