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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: OMIM:614128
For additional species annotation, visit the Alliance of Genome Resources.


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 ClinVar Annotator: match by term: Lactate dehydrogenase B deficiency OMIM
ClinVar		 PMID:1587525 PMID:2334429 PMID:8314553 PMID:10509905 PMID:28492532 NCBI chr 4:175,428,382...175,446,403
Ensembl chr 4:175,428,385...175,446,403 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20988
    Nutritional and Metabolic Diseases 8324
      disease of metabolism 8324
        inherited metabolic disorder 6274
          Lactate Dehydrogenase B Deficiency 1
Path 2
Term Annotations click to browse term
  disease 20988
    Developmental Disease 18234
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18064
        genetic disease 17984
          inherited metabolic disorder 6274
            Lactate Dehydrogenase B Deficiency 1
paths to the root