autosomal dominant craniometaphyseal dysplasia Disease Ontology Browser

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Disease Ontology Browser

autosomal dominant craniometaphyseal dysplasia (DOID:0080801)
Alliance: disease page
Alt IDs: OMIM:123000
Definition: A craniometaphyseal dysplasia that has_material_basis_in heterozygous mutation in the ANKH gene on chromosome 5p15.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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