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Metadata
ID DOID:0080801
Name autosomal dominant craniometaphyseal dysplasia
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/
Xrefs

MIM:123000

Parent Relationships

is_a autosomal dominant disease

is_a craniometaphyseal dysplasia

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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