Search Ontology:
Human Disease
spondyloperipheral dysplasia
- Term ID
- DOID:0112195
- Synonyms
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- 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
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- MIM:271700
- ORDO:1856
- Ontology
- Human Disease ( DOID:0112195 )
- is a type of
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Genes Involved
Zebrafish Models