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Metadata
ID	DOID:0112195
Name	spondyloperipheral dysplasia
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. https://pubmed.ncbi.nlm.nih.gov/15316962/, https://pubmed.ncbi.nlm.nih.gov/8723097/
Xrefs	OMIM:271700 ORDO:1856
Subsets	DO_rare_slim
Synonyms	spondyloperipheral dysplasia-short ulna syndrome [EXACT]
Parent Relationships	is_a osteochondrodysplasia is_a autosomal dominant disease