OBO ID: DOID:0080807
Term Name: autosomal dominant craniodiaphyseal dysplasia Search Ontology:
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 )
OTHER autosomal dominant craniodiaphyseal dysplasia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SOST Craniodiaphyseal dysplasia, autosomal dominant 122860
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None