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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:myoglobinuria
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Accession:DOID:0080108 term browser browse the term
Definition:A myopathy that is characterized by an increased urinary excretion of myoglobin. (DO)
Synonyms:exact_synonym: myoglobinurias
 primary_id: MESH:D009212
 alt_id: DOID:9005068

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myoglobinuria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gsr glutathione-disulfide reductase ISO protein:decreased activity:kidney: RGD PMID:15452363 RGD:7257577 NCBI chrNW_004955463:7,130,459...7,153,631
Ensembl chrNW_004955463:7,131,364...7,153,583 		JBrowse link
G Ldha lactate dehydrogenase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21332213 NCBI chrNW_004955414:33,087,745...33,100,846 JBrowse link
G Pgam2 phosphoglycerate mutase 2 ISO RGD PMID:8447317 RGD:1599129 NCBI chrNW_004955456:7,909,891...7,912,116
Ensembl chrNW_004955456:7,909,891...7,912,116 		JBrowse link
Acute Recurrent Myoglobinuria, Autosomal Recessive term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lpin1 lipin 1 ISO ClinVar Annotator: match by term: Acute Recurrent Myoglobinuria | ClinVar Annotator: match by term: Myoglobinuria, acute recurrent, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18591397 PMID:18817903 More... NCBI chrNW_004955487:6,139,188...6,207,316
Ensembl chrNW_004955487:6,138,926...6,210,012 		JBrowse link
Exertional Myalgia, Muscle Stiffness and Myoglobinuria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmd dystrophin ISO ClinVar Annotator: match by term: Exertional myalgia, muscle stiffness and myoglobinuria ClinVar PMID:19367636 PMID:21104870 PMID:25637381 PMID:25741868 PMID:26365249 More... NCBI chrNW_004955535:1,283,084...3,297,015
Ensembl chrNW_004955535:1,283,523...3,299,542 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      musculoskeletal system disease 7251
        muscular disease 2001
          Rhabdomyolysis 26
            myoglobinuria 5
              Acute Recurrent Myoglobinuria, Autosomal Recessive 1
              Exertional Myalgia, Muscle Stiffness and Myoglobinuria 1
              Myoglobinuria, Autosomal Dominant 0
              Recurrent Myoglobinuria 0
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        peripheral nervous system disease 3827
          neuropathy 3646
            neuromuscular disease 2848
              muscular disease 2001
                muscle tissue disease 1200
                  myopathy 930
                    myoglobinuria 5
                      Acute Recurrent Myoglobinuria, Autosomal Recessive 1
                      Exertional Myalgia, Muscle Stiffness and Myoglobinuria 1
                      Myoglobinuria, Autosomal Dominant 0
                      Recurrent Myoglobinuria 0
paths to the root