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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:hypervalinemia and hyperleucine-isoleucinemia
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Accession:DOID:0060950 term browser browse the term
Definition:An amino acid metabolic characterized by highly elevated plasma valine and leucine concentrations that has_material_basis_in compound heterozygous mutation in the BCAT2 gene on chromosome 19q13. (DO)
Synonyms:exact_synonym: BRANCHED-CHAIN AMINOTRANSFERASE DEFICIENCY;   HVLI;   branched-chain aminotransferase 2 deficiency
 alt_id: DOID:9000861
 xref: MIM:618850;   MONDO:0100058


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hypervalinemia and hyperleucine-isoleucinemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcat2 branched chain amino acid transaminase 2 ISO ClinVar Annotator: match by term: Hypervalinemia and hyperleucine-isoleucinemia OMIM
ClinVar		 PMID:25653144 PMID:31177572 NCBI chr 1:96,040,407...96,060,008
Ensembl chr 1:96,042,625...96,060,007 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19057
    Nutritional and Metabolic Diseases 8518
      disease of metabolism 8518
        inherited metabolic disorder 6602
          amino acid metabolic disorder 1585
            Valinemia 1
              hypervalinemia and hyperleucine-isoleucinemia 1
Path 2
Term Annotations click to browse term
  disease 19057
    Developmental Disease 14528
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13541
        genetic disease 13203
          monogenic disease 10702
            autosomal genetic disease 9875
              autosomal recessive disease 6896
                hypervalinemia and hyperleucine-isoleucinemia 1
paths to the root