RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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. (DO)
Synonyms:
exact_synonym:
DEFICIENCY OF FERROXIDASE; familial apoceruloplasmin deficiency; hereditary hypoceruloplasminemia
narrow_synonym:
CERULOPLASMIN DEFICIENCY; HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA; hypoceruloplasminemia
ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar Annotator: match by term: Aceruloplasminemia ClinVar Annotator: match by OMIM:604290 CTD Direct Evidence: marker/mechanism