Metadata | |
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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 | |
Synonyms |
autosomal recessive spondylocostal dysostosis 6 [EXACT] SCDO6 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |