OBO ID: DOID:0112364
Term Name: spondylocostal dysostosis 4 Search Ontology:
Synonyms:
  • autosomal recessive spondylocostal dysostosis 4
  • SCDO4
Definition: A spondylocostal dysostosis that has_material_basis_in heterozygous or compound homozygous mutation in HES7 on chromosome 17p13.1. https://pubmed.ncbi.nlm.nih.gov/18775957/
References:
Ontology: Human Disease   (DOID:0112364)
OTHER spondylocostal dysostosis 4 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
HES7 Spondylocostal dysostosis 4, autosomal recessive 613686
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None