DO_rare_slim has material basis in autosomal dominant disease spondyloepiphyseal dysplasia spondyloepiphyseal dysplasia Stanescu type disease_ontology ORDO:459051 DOID:0112281 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. MIM:616583 SED Stanescu type SEDSTN autosomal dominant inheritance