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spondyloepiphyseal dysplasia Stanescu type
Summary
- Synonym
-
- SED Stanescu type
- SEDSTN
- Definition
- 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.
- Super Class
- autosomal dominant disease spondyloepiphyseal dysplasia
External Links
- Disease Ontology
- DOID:0112281
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
