Spondylometaphyseal Dysplasia Megarbane-Dagher-Melike Type
Disease ID: disease_node_15643
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:613320, ORDO:401979 |
|---|---|
| Subclassof | DOID_0050737, DOID_0112295 |
| Data Source | DOID |
| Synonyms | Megarbane-Dagher-Melike type chondrodysplasia, SMDMDM |
| Doid Label | spondylometaphyseal dysplasia Megarbane-Dagher-Melike type |
| Doid Description | A spondylometaphyseal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the PAM16 gene on chromosome 16p13.3. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_15643 |
| Doid Id | DOID_0112304 |
| Label | Spondylometaphyseal Dysplasia Megarbane-Dagher-Melike Type |
- Outgoing r'ship
SUBCLASS_OFto/from Spondylometaphyseal Dysplasia(ID:disease_node_15642) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)