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Summary Literature (1)
DOID:0080033 - craniometaphyseal dysplasia

Disease Ontology Definition: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.

Synonyms:

Xenbase Genes : gja1, wdr19, ankh, ift43

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0015465 - craniometaphyseal dysplasia


Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): osteosclerosis (is_a)