Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0080807 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models