OBO ID: DOID:0112360
Term Name: spondylocostal dysostosis 6 Search Ontology:
Synonyms:
  • autosomal recessive spondylocostal dysostosis 6
  • SCDO6
Definition: A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in RIPPLY2 on chromosome 6q14.2. https://pubmed.ncbi.nlm.nih.gov/25343988/
References:
Ontology: Human Disease   (DOID:0112360)
OTHER spondylocostal dysostosis 6 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
RIPPLY2 ?Spondylocostal dysostosis 6 616566
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None