Spondyloepiphyseal Dysplasia Stanescu Type
Disease ID: disease_node_15694
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| Dbxref | MIM:616583, ORDO:459051 |
|---|---|
| Subclassof | DOID_0050736, DOID_0112280 |
| Data Source | DOID |
| Synonyms | SED Stanescu type, SEDSTN |
| Doid Label | spondyloepiphyseal dysplasia Stanescu type |
| Doid Description | A spondyloepiphyseal dysplasia characterized by accumulation of glycoprotein in chondrocytes, progressive joint contracture with premature degenerative joint disease, generalized platyspondyly, hypoplastic pelvis, epiphyseal flattening with metaphyseal splaying of the long bones, and enlarged phalangeal epimetaphyses of the hands that has_material_basis_in heterozygous mutation in COL2A1 on chromosome 12q13.11. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_15694 |
| Doid Id | DOID_0112281 |
| Label | Spondyloepiphyseal Dysplasia Stanescu Type |
- Outgoing r'ship
SUBCLASS_OFto/from Spondyloepiphyseal Dysplasia(ID:disease_node_15684) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)