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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: OMIM:614546
 alt_id: RDO:0016153



show annotations for term's descendants           Sort by:
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Efavirenz, poor metabolism of
CTD
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 21128
    Chemically-Induced Disorders 1385
      Drug-Related Side Effects and Adverse Reactions 660
        Efavirenz, Poor Metabolism of 1
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18308
        genetic disease 18252
          inherited metabolic disorder 6212
            Efavirenz, Poor Metabolism of 1
paths to the root