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

• OMIM:123000

Ontology

Human Disease   ( DOID:0080801 )