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ONTOLOGY REPORT - ANNOTATIONS


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 JBrowse Chr Start Stop Reference
G Cp ceruloplasmin JBrowse link 2 104,744,249 104,803,034 RGD:7240710
RGD:8554872
RGD:11554173
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 JBrowse link 2 104,789,423 104,832,964 RGD:8554872
G Slc40a1 solute carrier family 40 member 1 JBrowse link 9 52,819,451 52,830,461 RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        neurodegenerative disease 2691
          aceruloplasminemia 3
Path 2
Term Annotations click to browse term
  disease 15620
    Developmental Diseases 8739
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7521
        genetic disease 7009
          monogenic disease 4562
            autosomal genetic disease 3515
              autosomal recessive disease 1981
                aceruloplasminemia 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.