Anauxetic Dysplasia 3
Disease ID: disease_node_15670
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:618853 |
|---|---|
| Subclassof | DOID_0050737, DOID_0080942 |
| Data Source | DOID |
| Doid Label | anauxetic dysplasia 3 |
| Doid Description | A spondyloepimetaphyseal dysplasia that is characterized by severe short stature, brachydactyly, skin laxity, joint hypermobility, and joint dislocations and that has_material_basis_in homozygous mutation in the NEPRO gene on chromosome 3q13. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_15670 |
| Doid Id | DOID_0080963 |
| Label | Anauxetic Dysplasia 3 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)