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Human Disease

spondyloepiphyseal dysplasia congenita

Term ID
DOID:14789
Synonyms
  • Late Spondyloepiphyseal Dysplasia
Definition
A spondyloepiphyseal dysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11. https://pubmed.ncbi.nlm.nih.gov/1971141/
References
Ontology
Human Disease   ( DOID:14789 )
Relationships
is a type of
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Genes Involved
Zebrafish Models