Visualize Submit Comment
Metadata
ID DOID:0050711
Name aceruloplasminemia
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.
http://en.wikipedia.org/wiki/Aceruloplasminemia, http://omim.org/entry/604290?search=604290&highlight=604290
Xrefs

GARD:9499

OMIM:604290

Subsets

DO_rare_slim

Parent Relationships

is_a inherited metabolic disorder

is_a iron metabolism disease

is_a autosomal recessive disease

Add an item to the term tracker