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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
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
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 chr 8:29,990,543...30,040,157
Ensembl chr 8:27,180,300...27,229,557
JBrowse link
G LDHA lactate dehydrogenase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21332213 NCBI chr11:18,432,347...18,445,694
Ensembl chr11:18,115,250...18,128,400
JBrowse link
G PGAM2 phosphoglycerate mutase 2 ISO RGD PMID:8447317 RGD:1599129 NCBI chr 7:44,776,722...44,780,248
Ensembl chr 7:44,843,067...44,845,984
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:18591397 PMID:18817903 PMID:20583302 PMID:24033266 PMID:25741868 More... NCBI chr2A:11,664,727...11,815,497
Ensembl chr2A:11,857,961...11,961,551
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:26365249 PMID:26467025 More... NCBI chr  X:23,728,650...26,338,849
Ensembl chr  X:31,282,415...33,492,733
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14685
    disease of anatomical entity 14400
      musculoskeletal system disease 6662
        muscular disease 1401
          Rhabdomyolysis 24
            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 14685
    disease of anatomical entity 14400
      nervous system disease 12239
        peripheral nervous system disease 2906
          neuropathy 2716
            neuromuscular disease 2156
              muscular disease 1401
                muscle tissue disease 912
                  myopathy 745
                    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