Search Ontology:
Human Disease

spondylocostal dysostosis 1

Term ID
DOID:0112365
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 Pages
Alliance (1)
Genes Involved
Zebrafish Models
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