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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:14719552, PMID:15082597, PMID:15654567, PMID:16629161, PMID:16775387, PMID:16831606, PMID:17710675, PMID:18200628, PMID:18414213, PMID:19095659, PMID:20801540, PMID:22243965, PMID:24033266, PMID:25089372, 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 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        neurodegenerative disease 3186
          aceruloplasminemia 3
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5627
            autosomal genetic disease 4631
              autosomal recessive disease 2512
                aceruloplasminemia 3
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.