OBO ID: DOID:0112362
Term Name: spondylocostal dysostosis 2 Search Ontology:
Synonyms:
  • autosomal recessive spondylocostal dysostosis 2
  • SCDO2
Definition: A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in MESP2 on chromosome 15q26.1. https://pubmed.ncbi.nlm.nih.gov/15122512/
References:
Ontology: Human Disease   (DOID:0112362)
OTHER spondylocostal dysostosis 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MESP2 Spondylocostal dysostosis 2, autosomal recessive 608681
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None