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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:Beta-Aminoisobutyric Acid, Urinary Excretion of
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Accession:DOID:9008474 term browser browse the term
Synonyms:exact_synonym: BAIB Urinary Excretion;   Hyper-Beta-Aminoisobutyric Aciduria
 primary_id: MESH:C565904
 alt_id: OMIM:210100


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Beta-Aminoisobutyric Acid, Urinary Excretion of term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agxt2 alanine-glyoxylate aminotransferase 2 ISO ClinVar Annotator: match by term: Beta-aminoisobutyric acid, urinary excretion of OMIM
ClinVar		 PMID:21572414 PMID:25741868 NCBI chr 2:59,336,252...59,377,664
Ensembl chr 2:59,336,283...59,377,926 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Nutritional and Metabolic Diseases 8246
      disease of metabolism 8246
        inherited metabolic disorder 6256
          amino acid metabolic disorder 1523
            Beta-Aminoisobutyric Acid, Urinary Excretion of 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          inherited metabolic disorder 6256
            amino acid metabolic disorder 1523
              Beta-Aminoisobutyric Acid, Urinary Excretion of 1
paths to the root