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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;   RDO:0006171
 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 IEP protein:decreased activity:kidney: RGD PMID:15452363 RGD:7257577 NCBI chr16:62,197,617...62,239,987
Ensembl chr16:62,197,617...62,241,361
JBrowse link
G Ldha lactate dehydrogenase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21332213 NCBI chr 1:102,900,288...102,909,713
Ensembl chr 1:102,900,286...102,909,707
JBrowse link
G Lpin1 lipin 1 ISS OMIM:160010 | OMIM:268200 | OMIM:550500 MouseDO NCBI chr 6:41,796,214...41,905,149
Ensembl chr 6:41,799,749...41,870,046
JBrowse link
G Pgam2 phosphoglycerate mutase 2 ISO RGD PMID:8447317 RGD:1599129 NCBI chr14:86,045,005...86,047,116
Ensembl chr14:86,044,969...86,047,162
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: Myoglobinuria, acute recurrent, autosomal recessive
ClinVar Annotator: match by term: Acute Recurrent Myoglobinuria
ClinVar Annotator: match by term: Myoglobinuria, recurrent, autosomal recessive
OMIM
ClinVar
PMID:18591397 PMID:18817903 PMID:20583302 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:41,796,214...41,905,149
Ensembl chr 6:41,799,749...41,870,046
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:26467025 PMID:28492532 NCBI chr  X:51,149,358...53,519,271
Ensembl chr  X:51,286,737...53,519,259
JBrowse link
Recurrent Myoglobinuria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mt-co1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by null ClinVar PMID:10980727 NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      musculoskeletal system disease 5740
        muscular disease 1168
          Rhabdomyolysis 24
            myoglobinuria 6
              Acute Recurrent Myoglobinuria, Autosomal Recessive 1
              Exertional Myalgia, Muscle Stiffness and Myoglobinuria 1
              Myoglobinuria, Autosomal Dominant 0
              Recurrent Myoglobinuria 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        peripheral nervous system disease 2425
          neuropathy 2243
            neuromuscular disease 1763
              muscular disease 1168
                muscle tissue disease 792
                  myopathy 644
                    myoglobinuria 6
                      Acute Recurrent Myoglobinuria, Autosomal Recessive 1
                      Exertional Myalgia, Muscle Stiffness and Myoglobinuria 1
                      Myoglobinuria, Autosomal Dominant 0
                      Recurrent Myoglobinuria 1
paths to the root