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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 chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
JBrowse link
G Ldha lactate dehydrogenase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21332213 NCBI chr 1:97,371,823...97,381,247
Ensembl chr 1:97,366,021...97,433,472
JBrowse link
G Lpin1 lipin 1 ISS OMIM:160010 | OMIM:268200 | OMIM:550500 MouseDO NCBI chr 6:39,309,198...39,417,034
Ensembl chr 6:39,312,748...39,417,097
JBrowse link
G Pgam2 phosphoglycerate mutase 2 ISO RGD PMID:8447317 RGD:1599129 NCBI chr14:80,681,796...80,683,907
Ensembl chr14:80,681,776...80,683,940
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 More... NCBI chr 6:39,309,198...39,417,034
Ensembl chr 6:39,312,748...39,417,097
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:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207
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 17289
    disease of anatomical entity 16625
      musculoskeletal system disease 6466
        muscular disease 1283
          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 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        peripheral nervous system disease 2565
          neuropathy 2360
            neuromuscular disease 1879
              muscular disease 1283
                muscle tissue disease 832
                  myopathy 666
                    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