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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:Congenital Infantile Lactic Acidosis due to LAD Deficiency
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Accession:DOID:9002135 term browser browse the term
Synonyms:exact_synonym: DLD deficiency;   DLD-RELATED DISORDER;   DLDD;   E3 Deficiency;   Lipoamide Dehydrogenase Deficiency, Lactic Acidosis due to;   dihydrolipoamide dehydrogenase deficiency;   maple syrup urine disease, type 3;   maple syrup urine disease, type III
 primary_id: MESH:C573012
 alt_id: OMIM:246900


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Congenital Infantile Lactic Acidosis due to LAD Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DLD dihydrolipoamide dehydrogenase ISO ClinVar Annotator: match by term: DLD DEFICIENCY | ClinVar Annotator: match by term: Lipoamide dehydrogenase deficiency, lactic acidosis due to | ClinVar Annotator: match by term: MAPLE SYRUP URINE DISEASE, TYPE III | ClinVar Annotator: match by term: Maple syrup urine disease, type 3 OMIM
ClinVar		 PMID:1347528 PMID:1640293 PMID:3769994 PMID:7797549 PMID:8506365 More... NCBI chr 7:99,872,020...99,901,884
Ensembl chr 7:112,593,934...112,623,629 		JBrowse link
G SLC26A3 solute carrier family 26 member 3 ISO ClinVar Annotator: match by term: Lipoamide dehydrogenase deficiency, lactic acidosis due to ClinVar PMID:8968745 PMID:9934985 PMID:28492532 NCBI chr 7:99,747,405...99,776,763
Ensembl chr 7:112,470,041...112,507,671 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    Nutritional and Metabolic Diseases 7186
      disease of metabolism 7186
        inherited metabolic disorder 5523
          Metabolic Brain Diseases, Inborn 1365
            maple syrup urine disease 107
              Congenital Infantile Lactic Acidosis due to LAD Deficiency 2
Path 2
Term Annotations click to browse term
  disease 17996
    Nutritional and Metabolic Diseases 7186
      disease of metabolism 7186
        Acid-Base Imbalance 137
          Acidoses 129
            metabolic acidosis 96
              lactic acidosis 81
                Congenital Infantile Lactic Acidosis 7
                  Congenital Infantile Lactic Acidosis due to LAD Deficiency 2
paths to the root