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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:Platelet-Activating Factor Acetylhydrolase Deficiency
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Accession:DOID:9000204 term browser browse the term
Synonyms:exact_synonym: PAFAD
 primary_id: MESH:C566640;   RDO:0014946
 alt_id: OMIM:614278


show annotations for term's descendants           Sort by:
Platelet-Activating Factor Acetylhydrolase Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLA2G7 phospholipase A2 group VII ISO ClinVar Annotator: match by term: Platelet-activating factor acetylhydrolase deficiency ClinVar
OMIM		 PMID:8675689 PMID:9412624 PMID:10194471 PMID:10733466 PMID:16787988 More... NCBI chr 7:41,488,152...41,531,383
Ensembl chr 7:41,486,598...41,531,345 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    disease of anatomical entity 14875
      respiratory system disease 3345
        respiratory allergy 367
          asthma 332
            Platelet-Activating Factor Acetylhydrolase Deficiency 1
Path 2
Term Annotations click to browse term
  disease 17415
    disease of anatomical entity 14875
      Immune & Inflammatory Diseases 4951
        immune system disease 4288
          allergic disease 576
            Immediate Hypersensitivity 437
              respiratory allergy 367
                asthma 332
                  Platelet-Activating Factor Acetylhydrolase Deficiency 1
paths to the root