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Summary Literature (0)
DOID:0112195 - spondyloperipheral dysplasia


Disease Ontology 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 COL2A1 on chromosome 12q13.11.

Synonyms: spondyloperipheral dysplasia-short ulna syndrome

In OMIM:
OMIM:271700 - SPONDYLOPERIPHERAL DYSPLASIA


Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : col2a1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): autosomal dominant disease (is_a), osteochondrodysplasia (is_a)