FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term aceruloplasminemia ID (Ontology) DOID:0050711 (Human Disease)
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.
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 Genes
 aceruloplasminemia       4
 for disease ribbon | aceruloplasminemia       4
 model of | aceruloplasminemia       4
Spanning Tree (Parents/Children)
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disease of metabolism
 |__inherited metabolic disorder__
mineral metabolism disease        |
 |__iron metabolism disease_______|
autosomal genetic disease         |
 |__autosomal recessive disease___|
genetic disease                   |
 |__inherited metabolic disorder__|
                                  aceruloplasminemia  4 rec.
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Is a autosomal recessive disease
iron metabolism disease
inherited metabolic disorder
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Synonyms
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GARD:9499
MIM:604290