OBO ID: DOID:0112195
Term Name: spondyloperipheral dysplasia Search Ontology:
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
is a type of:
OTHER spondyloperipheral dysplasia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
COL2A1 Spondyloperipheral dysplasia 271700
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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