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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:Acute Recurrent Myoglobinuria, Autosomal Recessive
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Accession:DOID:9007777 term browser browse the term
Synonyms:exact_synonym: acute recurrent myoglobinuria;   acute recurrent rhabdomyolysis;   familial paroxysmal paralytic myoglobinuria;   recurrent myoglobinuria, autosomal recessive
 primary_id: MESH:C564832
 alt_id: OMIM:268200


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acute Recurrent Myoglobinuria | ClinVar Annotator: match by term: Myoglobinuria, acute recurrent, autosomal recessive		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18591397 PMID:18817903 More... NCBI chr12:16,585,670...16,697,020
Ensembl chr12:16,585,670...16,696,967 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      musculoskeletal system disease 7930
        muscular disease 2168
          Rhabdomyolysis 28
            myoglobinuria 6
              Acute Recurrent Myoglobinuria, Autosomal Recessive 1
Path 2
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      nervous system disease 13500
        peripheral nervous system disease 4114
          neuropathy 3914
            neuromuscular disease 3076
              muscular disease 2168
                muscle tissue disease 1314
                  myopathy 1030
                    myoglobinuria 6
                      Acute Recurrent Myoglobinuria, Autosomal Recessive 1
paths to the root