Search Ontology:
Human Disease

autosomal dominant craniometaphyseal dysplasia

Term ID
DOID:0080801
Synonyms
Definition
A craniometaphyseal dysplasia that has_material_basis_in heterozygous mutation in the ANKH gene on chromosome 5p15. https://pubmed.ncbi.nlm.nih.gov/9382103/
References
Ontology
Human Disease   ( DOID:0080801 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models