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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:Lactic Aciduria due to D-Lactic Acid
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Accession:DOID:9000653 term browser browse the term
Definition:DLACD is caused by homozygous mutation in the LDHD gene on chromosome 16q23. (OMIM)
Synonyms:exact_synonym: D-LACTIC ACIDURIA;   D-lactic aciduria with gout;   DLACD
 primary_id: MESH:C565446
 alt_id: MIM:245450


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Lactic Aciduria due to D-Lactic Acid term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LDHD lactate dehydrogenase D susceptibility ISO ClinVar Annotator: match by term: Lactic aciduria due to D-lactic acid OMIM
ClinVar		 PMID:832430 PMID:25741868 PMID:30931947 PMID:31638601 NCBI chr 5:75,566,495...75,591,093
Ensembl chr 5:75,587,012...75,591,373 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15721
    Nutritional and Metabolic Diseases 7465
      disease of metabolism 7465
        inherited metabolic disorder 5919
          Lactic Aciduria due to D-Lactic Acid 1
Path 2
Term Annotations click to browse term
  disease 15721
    Developmental Disease 13694
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12736
        genetic disease 12430
          inherited metabolic disorder 5919
            Lactic Aciduria due to D-Lactic Acid 1
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