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Summary Literature (0)
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:

Xenbase Genes : cp

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0011426 - aceruloplasminemia

MIM:
MIM:604290 - ACERULOPLASMINEMIA; ACEP

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), inherited metabolic disorder (is_a), iron metabolism disease (is_a)