autosomal dominant craniodiaphyseal dysplasia

Term ID

DOID:0080807

Synonyms

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/

References

• OMIM:122860

Ontology

Human Disease   ( DOID:0080807 )