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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

GARD:6798

MIM:608681

Subsets

DO_rare_slim

Synonyms

autosomal recessive spondylocostal dysostosis 2 [EXACT]

SCDO2 [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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