spondyloperipheral dysplasia (DOID:0112195)
Alliance: disease page
Synonyms: spondyloperipheral dysplasia-short ulna syndrome
Alt IDs: OMIM:271700, ORDO:1856
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.