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RGD DISEASE ONTOLOGY - ANNOTATIONS

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.

Term:aceruloplasminemia
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Accession:DOID:0050711 term browser browse the term
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. (DO)
Synonyms:exact_synonym: DEFICIENCY OF FERROXIDASE;   familial apoceruloplasmin deficiency;   hereditary hypoceruloplasminemia
 narrow_synonym: CERULOPLASMIN DEFICIENCY;   hypoceruloplasminemia;   systemic hemosiderosis due to aceruloplasminemia
 primary_id: MESH:C536004
 alt_id: OMIM:604290
 xref: GARD:9499
For additional species annotation, visit the Alliance of Genome Resources.



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aceruloplasminemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cp ceruloplasmin ISO 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
OMIM
ClinVar
CTD
PMID:1458725 PMID:2016084 PMID:3574673 PMID:5675426 PMID:5912351 More... NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
JBrowse link
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 ISO ClinVar Annotator: match by term: Aceruloplasminemia
ClinVar Annotator: match by term: Deficiency of ferroxidase
ClinVar PMID:18414213 PMID:24033266 PMID:28492532 NCBI chr 2:102,484,574...102,527,580
Ensembl chr 2:102,484,574...102,526,047
JBrowse link
G Slc40a1 solute carrier family 40 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20655381 NCBI chr 9:48,033,526...48,053,876
Ensembl chr 9:48,033,526...48,051,481
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Nutritional and Metabolic Diseases 5565
      disease of metabolism 5565
        inherited metabolic disorder 2649
          aceruloplasminemia 3
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          monogenic disease 7190
            autosomal genetic disease 6337
              autosomal recessive disease 3496
                aceruloplasminemia 3
paths to the root