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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;   HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA;   hypoceruloplasminemia
 primary_id: MESH:C536004
 alt_id: OMIM:604290;   RDO:0001409
 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 PMID:7539672 PMID:7708681 PMID:7820540 PMID:8641692 PMID:8789443 PMID:11756598 PMID:11909923 PMID:12351628 PMID:12572680 PMID:15082597 PMID:15654567 PMID:16629161 PMID:16775387 PMID:16831606 PMID:17710675 PMID:18414213 PMID:19095659 PMID:20801540 PMID:22243965 PMID:24033266 PMID:25741868 PMID:25864092 PMID:26777753 PMID:28012953 PMID:28258281 PMID:28492532 NCBI chr 2:104,744,249...104,803,034
Ensembl chr 2:104,744,461...104,799,853
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 2:104,789,423...104,832,964
Ensembl chr 2:104,789,423...104,830,898
JBrowse link
G Slc40a1 solute carrier family 40 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20655381 NCBI chr 9:52,819,451...52,830,461
Ensembl chr 9:52,894,365...52,912,293
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        neurodegenerative disease 3235
          aceruloplasminemia 3
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          monogenic disease 5748
            autosomal genetic disease 4766
              autosomal recessive disease 2628
                aceruloplasminemia 3
paths to the root