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



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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 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 chr 6:39,309,198...39,417,034
Ensembl chr 6:39,312,748...39,417,097
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18215
    disease of anatomical entity 17576
      musculoskeletal system disease 7282
        muscular disease 1455
          Rhabdomyolysis 26
            myoglobinuria 6
              Acute Recurrent Myoglobinuria, Autosomal Recessive 1
Path 2
Term Annotations click to browse term
  disease 18215
    disease of anatomical entity 17576
      nervous system disease 13207
        peripheral nervous system disease 3056
          neuropathy 2837
            neuromuscular disease 2227
              muscular disease 1455
                muscle tissue disease 949
                  myopathy 778
                    myoglobinuria 6
                      Acute Recurrent Myoglobinuria, Autosomal Recessive 1
paths to the root