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DOID:0050711 - aceruloplasminemia
Disease Ontology Definition:An iron metabolism disease that has_material_basis_in a mutation in the ceruloplasmin gene characterized by progressive neurodegeneration of the retina and basal ganglia and diabetes mellitus.
Synonyms:
Echinobase Genes :
MIM:604290 - aceruloplasminemia hypoceruloplasminemia, included;; ceruloplasmin deficiency, included;; hemosiderosis, systemic, due to aceruloplasminemia, included |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
iron metabolism disease (is_a)