Search Ontology:
Human Disease

spondylometaphyseal dysplasia Algerian type

Term ID
DOID:0112296
Synonyms
  • spondylometaphyseal dysplasia with severe genu valgum
  • spondylometaphyseal dysplasia, Schmidt type
Definition
A spondylometaphyseal dysplasia characterized by a short trunk and severe genu valgum and that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13. (2)
References
Ontology
Human Disease   ( DOID:0112296 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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