craniometaphyseal dysplasia Gene Set

Dataset DISEASES Curated Gene-Disease Assocation 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)
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Genes

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