Spondyloepiphyseal Dysplasia Kondo-Fu Type
Disease ID: disease_node_15693
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| Dbxref | MIM:618392 |
|---|---|
| Subclassof | DOID_0050737, DOID_0112280 |
| Data Source | DOID |
| Synonyms | SED with elevated blood lysosomal enzymes, SEDKF |
| Doid Label | spondyloepiphyseal dysplasia Kondo-Fu type |
| Doid Description | A spondyloepiphyseal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the MBTPS1 gene on chromosome 16q23.3-q24.1. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_15693 |
| Doid Id | DOID_0112283 |
| Label | Spondyloepiphyseal Dysplasia Kondo-Fu Type |
- Outgoing r'ship
SUBCLASS_OFto/from Spondyloepiphyseal Dysplasia(ID:disease_node_15684) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)