spondylocostal dysostosis 3

Term ID

DOID:0112361

Synonyms

• autosomal recessive spondylocostal dysostosis 3
• SCDO3

Definition

A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the LFNG gene on chromosome 7p22.3. https://pubmed.ncbi.nlm.nih.gov/16385447/

References

• OMIM:609813

Ontology

Human Disease   ( DOID:0112361 )