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Metadata
ID DOID:0112361
Name spondylocostal dysostosis 3
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/
Xrefs

MIM:609813

Synonyms

autosomal recessive spondylocostal dysostosis 3 [EXACT]

SCDO3 [EXACT]

Parent Relationships

is_a autosomal recessive disease

is_a spondylocostal dysostosis

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