| Dataset | DISEASES Curated Gene-Disease Association Evidence Scores |
| Category | disease or phenotype associations |
| Type | disease |
| 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) |
| Similar Terms | |
| Downloads & Tools |
1 genes involed in the disease craniometaphyseal dysplasia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
| Symbol | Name |
|---|---|
| ANKH | ANKH inorganic pyrophosphate transport regulator |
