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Human Disease

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
Ontology
Human Disease   ( DOID:0112195 )
Relationships
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Genes Involved
Zebrafish Models