Term Name: autosomal dominant craniometaphyseal dysplasia
Synonyms:
Definition: A craniometaphyseal dysplasia that has_material_basis_in heterozygous mutation in the ANKH gene on chromosome 5p15.
Ontology: Human Disease [DOID:0080801]   ( DOID:0080801 )

Relationships
is a type of: autosomal dominant disease craniometaphyseal dysplasia