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Metadata
ID DOID:0112360
Name spondylocostal dysostosis 6
Definition A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the RIPPLY2 gene on chromosome 6q14.2.
https://pubmed.ncbi.nlm.nih.gov/25343988/
Xrefs

MIM:616566

Synonyms

autosomal recessive spondylocostal dysostosis 6 [EXACT]

SCDO6 [EXACT]

Parent Relationships

is_a spondylocostal dysostosis

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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