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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:Monocarboxylate Transporter 1 Deficiency
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Accession:DOID:9007395 term browser browse the term
Synonyms:exact_synonym: MCT1D
 narrow_synonym: MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, AUTOSOMAL DOMINANT;   MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, AUTOSOMAL RECESSIVE
 primary_id: OMIM:616095
For additional species annotation, visit the Alliance of Genome Resources.



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Monocarboxylate Transporter 1 Deficiency 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 term: Monocarboxylate transporter 1 deficiency, autosomal recessive OMIM
ClinVar
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
    Nutritional and Metabolic Diseases 5545
      disease of metabolism 5545
        inherited metabolic disorder 2629
          Monocarboxylate Transporter 1 Deficiency 1
Path 2
Term Annotations click to browse term
  disease 17240
    Nutritional and Metabolic Diseases 5545
      disease of metabolism 5545
        Acid-Base Imbalance 91
          Acidoses 79
            Ketosis 6
              Monocarboxylate Transporter 1 Deficiency 1
paths to the root