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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;   NCI:C189281
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 Agtr1a angiotensin II receptor, type 1a ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
JBrowse link
G Ankub1 ankyrin repeat and ubiquitin domain containing 1 ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chr 2:141,857,623...141,894,624
Ensembl chr 2:141,856,573...141,894,339
JBrowse link
G Clrn1 clarin 1 ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chr 2:143,084,030...143,130,948
Ensembl chr 2:143,084,030...143,130,948
JBrowse link
G Commd2 COMM domain containing 2 ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chr 2:141,848,661...141,852,907
Ensembl chr 2:141,848,680...141,852,888
JBrowse link
G Cp ceruloplasmin ISO ClinVar Annotator: match by term: Deficiency of ferroxidase | ClinVar Annotator: match by term: Hypoceruloplasminemia
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 Cpa3 carboxypeptidase A3 ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chr 2:102,712,483...102,744,219
Ensembl chr 2:102,712,589...102,744,203
JBrowse link
G Cpb1 carboxypeptidase B1 ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chr 2:102,755,241...102,785,628
Ensembl chr 2:102,755,241...102,785,628
JBrowse link
G Eif2a eukaryotic translation initiation factor 2A ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chr 2:142,761,303...142,794,767
Ensembl chr 2:142,761,416...142,795,068
JBrowse link
G Erich6 glutamate-rich 6 ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chr 2:142,851,905...142,878,010
Ensembl chr 2:142,851,905...142,884,320
JBrowse link
G Gpr171 G protein-coupled receptor 171 ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chr 2:143,360,187...143,366,665
Ensembl chr 2:143,359,564...143,366,698
JBrowse link
G Gpr87 G protein-coupled receptor 87 ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chr 2:143,439,741...143,440,901
Ensembl chr 2:143,439,735...143,458,190
JBrowse link
G Gyg1 glycogenin 1 ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chr 2:102,611,888...102,653,916
Ensembl chr 2:102,598,496...102,653,797
JBrowse link
G Hltf helicase-like transcription factor ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chr 2:102,549,724...102,609,492
Ensembl chr 2:102,549,724...102,609,327
JBrowse link
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 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 Igsf10 immunoglobulin superfamily, member 10 ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chr 2:143,575,710...143,605,044
Ensembl chr 2:143,576,070...143,604,773
JBrowse link
G Med12l mediator complex subunit 12L ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chr 2:143,253,048...143,576,507
Ensembl chr 2:143,252,139...143,573,741
JBrowse link
G Mindy4b MINDY family member 4B ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chr 2:143,026,685...143,061,966
Ensembl chr 2:143,027,285...143,058,144
JBrowse link
G P2ry12 purinergic receptor P2Y12 ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chr 2:143,481,468...143,523,340
Ensembl chr 2:143,481,430...143,523,361
JBrowse link
G P2ry13 purinergic receptor P2Y13 ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chr 2:143,470,437...143,476,360
Ensembl chr 2:143,470,425...143,473,434
JBrowse link
G P2ry14 purinergic receptor P2Y14 ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chr 2:143,372,697...143,413,213
Ensembl chr 2:143,372,697...143,413,141
JBrowse link
G Pfn2 profilin 2 ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chr 2:142,067,102...142,072,938
Ensembl chr 2:142,067,104...142,072,938
JBrowse link
G Rnf13 ring finger protein 13 ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chr 2:141,927,887...142,061,801
Ensembl chr 2:141,927,909...142,061,801
JBrowse link
G Selenot selenoprotein T ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chr 2:142,804,387...142,821,438
Ensembl chr 2:142,804,405...142,821,427
JBrowse link
G Serp1 stress-associated endoplasmic reticulum protein 1 ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chr 2:142,757,254...142,761,243
Ensembl chr 2:142,757,270...142,761,116
JBrowse link
G Siah2 siah E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chr 2:142,913,924...142,931,752
Ensembl chr 2:142,914,003...142,931,950
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
G Tm4sf1 transmembrane 4 L six family member 1 ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chr 2:141,456,950...141,466,146
Ensembl chr 2:141,453,310...141,466,146
JBrowse link
G Tm4sf4 transmembrane 4 L six family member 4 ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chr 2:141,570,321...141,621,263
Ensembl chr 2:141,481,902...141,621,200
JBrowse link
G Tsc22d2 TSC22 domain family, member 2 ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chr 2:142,646,778...142,697,977
Ensembl chr 2:142,644,744...142,693,606
JBrowse link
G Wwtr1 WW domain containing transcription regulator 1 ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chr 2:141,651,159...141,766,919
Ensembl chr 2:141,648,108...141,766,968
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18213
    Nutritional and Metabolic Diseases 6779
      disease of metabolism 6779
        inherited metabolic disorder 4683
          aceruloplasminemia 30
Path 2
Term Annotations click to browse term
  disease 18213
    Developmental Disease 13067
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11803
        genetic disease 11314
          monogenic disease 8883
            autosomal genetic disease 7925
              autosomal recessive disease 4931
                aceruloplasminemia 30
paths to the root