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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: CP-RELATED CONDITION;   DEFICIENCY OF FERROXIDASE;   NBIA10;   familial apoceruloplasmin deficiency;   hereditary hypoceruloplasminemia;   neurodegeneration with brain iron accumulation-10
 narrow_synonym: CERULOPLASMIN DEFICIENCY;   hypoceruloplasminemia;   systemic hemosiderosis due to aceruloplasminemia
 primary_id: MIM:604290
 xref: GARD:9499;   MESH:C536004;   NCI:C189281


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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 chr17:34,383,397...34,435,523
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 2:144,005,876...144,044,635
Ensembl chr 2:141,856,573...141,894,339 		JBrowse link
G Commd2 COMM domain containing 2 ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chr 2:143,998,672...144,002,918
Ensembl chr 2:141,848,680...141,852,888 		JBrowse link
G Cp ceruloplasmin ISO
ISS		 ClinVar Annotator: match by term: CP-related condition | ClinVar Annotator: match by term: Deficiency of ferroxidase | ClinVar Annotator: match by term: Hypoceruloplasminemia
OMIM:604290
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:2016084 PMID:3574673 PMID:5675426 PMID:5912351 PMID:7539672 More... NCBI chr 2:104,368,336...104,427,119
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 2:104,641,619...104,673,253
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 2:104,684,275...104,744,824
Ensembl chr 2:102,755,241...102,785,628 		JBrowse link
G Gyg1 glycogenin 1 ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chr 2:104,540,927...104,583,038
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 2:104,478,725...104,538,531
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:12351628 PMID:16629161 PMID:18414213 PMID:19095659 PMID:24033266 More... NCBI chr 2:104,413,618...104,455,091
Ensembl chr 2:102,484,574...102,526,047 		JBrowse link
G Rnf13 ring finger protein 13 ISO ClinVar Annotator: match by term: Deficiency of ferroxidase ClinVar PMID:16629161 PMID:28492532 NCBI chr 2:144,076,526...144,211,520
Ensembl chr 2:141,927,909...142,061,801 		JBrowse link
G Slc40a1 solute carrier family 40 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20655381 NCBI chr 9:55,525,457...55,633,463
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 2:143,606,980...143,616,176
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 2:143,720,220...143,771,283
Ensembl chr 2:141,481,902...141,621,200 		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 2:143,801,181...143,916,941
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 19134
    Nutritional and Metabolic Diseases 8548
      disease of metabolism 8548
        inherited metabolic disorder 6627
          aceruloplasminemia 14
Path 2
Term Annotations click to browse term
  disease 19134
    Developmental Disease 14665
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13712
        genetic disease 13378
          monogenic disease 10946
            autosomal genetic disease 10433
              autosomal recessive disease 7126
                aceruloplasminemia 14
paths to the root