| Dataset | OMIM Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | phenotype |
| 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) |
| External Link | http://www.omim.org/entry/123000 |
| Similar Terms | |
| Downloads & Tools |
1 genes associated with the craniometaphyseal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.
| Symbol | Name |
|---|---|
| ANKH | ANKH inorganic pyrophosphate transport regulator |
