spondyloepiphyseal dysplasia Stanescu type

Term ID

DOID:0112281

Synonyms

• 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. (3)

References

• OMIM:616583
• ORDO:459051

Ontology

Human Disease   ( DOID:0112281 )