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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:Efavirenz, Poor Metabolism of
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Accession:DOID:9001273 term browser browse the term
Synonyms:exact_synonym: Efavirenz central nervous system toxicity, susceptibility to
 primary_id: MIM:614546
 alt_id: RDO:0016153


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Efavirenz, Poor Metabolism of term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp2b3 cytochrome P450, family 2, subfamily b, polypeptide 3 ISO ClinVar Annotator: match by term: Efavirenz, poor metabolism of ClinVar
OMIM		 PMID:15194512 PMID:15622315 PMID:15668854 PMID:15825040 PMID:15864119 More... NCBI chr 1:81,652,762...81,732,153
Ensembl chr 1:81,652,787...81,732,143 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    Chemically-Induced Disorders 1420
      Drug-Related Side Effects and Adverse Reactions 665
        Efavirenz, Poor Metabolism of 1
Path 2
Term Annotations click to browse term
  disease 19099
    Developmental Disease 14598
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13613
        genetic disease 13275
          inherited metabolic disorder 6605
            Efavirenz, Poor Metabolism of 1
paths to the root