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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: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)