Spondylometaphyseal Dysplasia With Corneal Dystrophy
Disease ID: disease_node_15644
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:618961 |
|---|---|
| Subclassof | DOID_0050737, DOID_0112295 |
| Data Source | DOID |
| Synonyms | SMDCD |
| Doid Label | spondylometaphyseal dysplasia with corneal dystrophy |
| Doid Description | A spondylometaphyseal dysplasia characterized by spondylometaphyseal dysplasia and corneal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the PLCB3 gene on chromosome 11q13.1. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_15644 |
| Doid Id | DOID_0112303 |
| Label | Spondylometaphyseal Dysplasia With Corneal Dystrophy |
- 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)