spondyloperipheral dysplasia

Term ID

DOID:0112195

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. (2)

References

• OMIM:271700
• ORDO:1856

Ontology

Human Disease   ( DOID:0112195 )