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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:Lactate Dehydrogenase B Deficiency
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Accession:DOID:9002868 term browser browse the term
Synonyms:exact_synonym: LDHBD
 primary_id: MESH:C563641
 alt_id: MIM:614128



show annotations for term's descendants           Sort by:
Lactate Dehydrogenase B Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ldhb lactate dehydrogenase B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lactate dehydrogenase B deficiency
OMIM
CTD
ClinVar
PMID:1587525 PMID:2334429 PMID:8314553 PMID:10509905 PMID:25741868 More... NCBI chr 4:175,428,382...175,446,403
Ensembl chr 4:175,428,385...175,446,403
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19047
    Nutritional and Metabolic Diseases 8522
      disease of metabolism 8522
        inherited metabolic disorder 6608
          Lactate Dehydrogenase B Deficiency 1
Path 2
Term Annotations click to browse term
  disease 19047
    Developmental Disease 14521
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13535
        genetic disease 13198
          inherited metabolic disorder 6608
            Lactate Dehydrogenase B Deficiency 1
paths to the root