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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:Monocyte Esterase Deficiency
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Accession:DOID:9002282 term browser browse the term
Synonyms:exact_synonym: altered drug metabolism, CES1-related;   carboxylesterase 1 deficiency;   monocyte carboxylesterase deficiency
 primary_id: MESH:C566173
 alt_id: OMIM:618057


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Monocyte Esterase Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ces1d carboxylesterase 1D ISO ClinVar Annotator: match by term: DRUG METABOLISM, ALTERED, CES1-RELATED OMIM
ClinVar		 PMID:18485328 PMID:23111421 PMID:26817948 PMID:27614009 NCBI chr19:13,873,490...13,912,035
Ensembl chr19:13,796,623...13,912,035 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21089
    disease of anatomical entity 18156
      hematopoietic system disease 3428
        leukocyte disease 1283
          Monocyte Esterase Deficiency 1
Path 2
Term Annotations click to browse term
  disease 21089
    Developmental Disease 18391
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18246
        genetic disease 18183
          inherited metabolic disorder 6165
            Monocyte Esterase Deficiency 1
paths to the root