Metadata | |
---|---|
ID | DOID:0112362 |
Name | spondylocostal dysostosis 2 |
Definition | A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the MESP2 gene on chromosome 15q26.1. https://pubmed.ncbi.nlm.nih.gov/15122512/ |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
autosomal recessive spondylocostal dysostosis 2 [EXACT] SCDO2 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |