OBO ID: DOID:0112363
Term Name: spondylocostal dysostosis 5 Search Ontology:
Synonyms:
  • SCDO5
Definition: A spondylocostal dysostosis that has_material_basis_in heterozygous, homozygous, or compund heterozygous mutation in TBX6 on chromosome 16p11.2. (2)
References:
Ontology: Human Disease   (DOID:0112363)
OTHER spondylocostal dysostosis 5 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TBX6 Spondylocostal dysostosis 5 122600
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None