OBO ID: DOID:0112365
Term Name: spondylocostal dysostosis 1 Search Ontology:
Synonyms:
  • autosomal recessive spondylocostal dysostosis 1
  • SCDO1
Definition: A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the DLL3 gene on chromosome 19q13.2. https://pubmed.ncbi.nlm.nih.gov/10742114/
References:
Ontology: Human Disease   ( DOID:0112365 )
Relationships
is a type of:
OTHER spondylocostal dysostosis 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DLL3 Spondylocostal dysostosis 1, autosomal recessive 277300
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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