|Dataset||DISEASES Curated Gene-Disease Assocation Evidence Scores|
|Category||disease or phenotype associations|
|Description||An osteosclerosis that has_material_basis_in mutations in the ANKH gene which results_in progressive thickening located_in skull and abnormally shaped ends of long bones in the limbs. (Human Disease Ontology, DOID_0080033)|
|Downloads & Tools|
1 genes involed in the disease craniometaphyseal dysplasia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
|ANKH||ANKH inorganic pyrophosphate transport regulator|