OBO ID: DOID:14789
Term Name: spondyloepiphyseal dysplasia congenita Search Ontology:
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 COL2A1 on chromosome 12q13.11. https://pubmed.ncbi.nlm.nih.gov/1971141/
References:
Ontology: Human Disease   (DOID:14789)
OTHER spondyloepiphyseal dysplasia congenita PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
COL2A1 SED congenita 183900
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None