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Metadata
ID DOID:0080807
Name autosomal dominant craniodiaphyseal dysplasia
Definition A craniodiaphyseal dysplasia that has_material_basis_in heterozygous mutation in the SOST gene on chromosome 17q21.
https://pubmed.ncbi.nlm.nih.gov/21221996/
Xrefs

MIM:122860

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is_a craniodiaphyseal dysplasia

is_a autosomal dominant disease

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