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

• GARD:4987
• MESH:C535788
• OMIM:183900

Ontology

Human Disease   ( DOID:14789 )