Anauxetic Dysplasia 2
Disease ID: disease_node_15671
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| Dbxref | MIM:617396 |
|---|---|
| Subclassof | DOID_0050737, DOID_0080942 |
| Data Source | DOID |
| Doid Label | anauxetic dysplasia 2 |
| Doid Description | A spondyloepimetaphyseal dysplasia that is has_material_basis_in homozygous or compound heterozygous mutation in the POP1 gene on chromosome 8q22. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_15671 |
| Doid Id | DOID_0080962 |
| Label | Anauxetic Dysplasia 2 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)