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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:Erythrocyte Lactate Transporter Defect
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Accession:DOID:9002353 term browser browse the term
Synonyms:exact_synonym: Lactate Transporter Defect, Myopathy due to
 primary_id: MESH:C565449;   RDO:0014082
 alt_id: OMIM:245340
For additional species annotation, visit the Alliance of Genome Resources.



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Erythrocyte Lactate Transporter Defect term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc16a1 solute carrier family 16 member 1 ISO ClinVar Annotator: match by OMIM:245340
ClinVar Annotator: match by term: Erythrocyte lactate transporter defect
OMIM
ClinVar
PMID:3775384 PMID:10590411 PMID:25741868 NCBI chr 2:192,123,755...192,144,617
Ensembl chr 2:192,124,289...192,144,611
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17240
    disease of anatomical entity 16581
      musculoskeletal system disease 6430
        muscular disease 1237
          Erythrocyte Lactate Transporter Defect 1
Path 2
Term Annotations click to browse term
  disease 17240
    disease of anatomical entity 16581
      nervous system disease 12115
        peripheral nervous system disease 2536
          neuropathy 2332
            neuromuscular disease 1838
              muscular disease 1237
                Erythrocyte Lactate Transporter Defect 1
paths to the root