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Summary Literature (0)
DOID:0112281 - spondyloepiphyseal dysplasia Stanescu type

Disease Ontology 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.

Synonyms: SED Stanescu type, SEDSTN

Xenbase Genes : col2a1



Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), spondyloepiphyseal dysplasia (is_a)