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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: MIM:614278


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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
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:8675689 PMID:9412624 PMID:10194471 PMID:10733466 PMID:16787988 More... NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19100
    disease of anatomical entity 18440
      respiratory system disease 5243
        respiratory allergy 393
          asthma 354
            Platelet-Activating Factor Acetylhydrolase Deficiency 1
Path 2
Term Annotations click to browse term
  disease 19100
    disease of anatomical entity 18440
      Immune & Inflammatory Diseases 5757
        immune system disease 5038
          allergic disease 618
            Immediate Hypersensitivity 469
              respiratory allergy 393
                asthma 354
                  Platelet-Activating Factor Acetylhydrolase Deficiency 1
paths to the root