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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


show annotations for term's descendants           Sort by:
Acute Recurrent Myoglobinuria, Autosomal Recessive term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC122756382 Sharpr-MPRA regulatory region 7856 IAGP ClinVar Annotator: match by term: Myoglobinuria, acute recurrent, autosomal recessive ClinVar PMID:20583302 PMID:25741868 PMID:28492532 PMID:32041611 NCBI chr 2:11,784,723...11,785,017 JBrowse link
G LOC126806147 CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:11919054-11920253 IAGP ClinVar Annotator: match by term: Myoglobinuria, acute recurrent, autosomal recessive ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:11,778,928...11,780,127 JBrowse link
G LOC129933127 ATAC-STARR-seq lymphoblastoid silent region 11176 IAGP ClinVar Annotator: match by term: Acute Recurrent Myoglobinuria | ClinVar Annotator: match by term: Myoglobinuria, acute recurrent, autosomal recessive ClinVar NCBI chr 2:11,746,311...11,746,880 JBrowse link
G LPIN1 lipin 1 IAGP
EXP		 ClinVar Annotator: match by term: Myoglobinuria, acute recurrent, autosomal recessive
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acute Recurrent Myoglobinuria | ClinVar Annotator: match by term: Myoglobinuria, acute recurrent, autosomal recessive		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18591397 PMID:18817903 More... NCBI chr 2:11,677,544...11,827,409
Ensembl chr 2:11,677,595...11,827,409 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35773
    disease of anatomical entity 32516
      musculoskeletal system disease 11817
        muscular disease 2812
          Rhabdomyolysis 34
            myoglobinuria 9
              Acute Recurrent Myoglobinuria, Autosomal Recessive 4
Path 2
Term Annotations click to browse term
  disease 35773
    disease of anatomical entity 32516
      nervous system disease 26410
        peripheral nervous system disease 5397
          neuropathy 5142
            neuromuscular disease 4050
              muscular disease 2812
                muscle tissue disease 1720
                  myopathy 1395
                    myoglobinuria 9
                      Acute Recurrent Myoglobinuria, Autosomal Recessive 4
paths to the root