Term Name:	spondyloperipheral dysplasia
Synonyms:	spondyloperipheral dysplasia-short ulna syndrome
Definition:	An osteochondrodysplasia characterized by platyspondyly, brachydactyly type E changes, bilateral short ulnae, and mild short stature that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11.
Ontology:	Human Disease [DOID:0112195]   ( DOID:0112195 )