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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: OMIM:245450
For additional species annotation, visit the Alliance of Genome Resources.



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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 ClinVar
OMIM
PMID:25741868 PMID:30931947 PMID:31638601 NCBI chr19:39,573,621...39,595,575
Ensembl chr19:39,573,621...39,595,575
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    Nutritional and Metabolic Diseases 5548
      disease of metabolism 5548
        inherited metabolic disorder 2633
          Lactic Aciduria due to D-Lactic Acid 1
Path 2
Term Annotations click to browse term
  disease 17251
    Developmental Disease 10960
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9494
        genetic disease 8999
          inherited metabolic disorder 2633
            Lactic Aciduria due to D-Lactic Acid 1
paths to the root