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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:Phospholipase A2, Group IVA, Deficiency of
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Accession:DOID:9000368 term browser browse the term
Definition:Recurrent gastrointestinal ulceration with dysfunctional platelets (GURDP) is an autosomal recessive disorder characterized by onset of severe gastrointestinal mucosal ulceration in early childhood. Affected individuals may have secondary iron deficiency anemia or malnourishment. Studies of platelet aggregation show a functional defect associated with decreased thromboxane-A2 production and decreased eicosanoid biosynthesis. The gastrointestinal disease is believed to result from decreased or absent production of prostaglandins that protect the gut mucosa. GURDP is caused by homozygous or compound heterozygous mutation in the PLA2G4A gene on chromosome 1q31. (OMIM)
Synonyms:exact_synonym: GURDP;   Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets
 primary_id: OMIM:618372;   RDO:9001198
For additional species annotation, visit the Alliance of Genome Resources.


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Phospholipase A2, Group IVA, Deficiency of term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pla2g4a phospholipase A2 group IVA ISO ClinVar Annotator: match by term: GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS OMIM
ClinVar
PMID:18451993, PMID:23268370, PMID:25102815 NCBI chr13:67,062,252...67,206,688
Ensembl chr13:66,988,937...67,206,693
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        lipid metabolism disorder 899
          Phospholipase A2, Group IVA, Deficiency of 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      Hemic and Lymphatic Diseases 2067
        hematopoietic system disease 1653
          blood coagulation disease 624
            hemorrhagic disease 611
              blood platelet disease 292
                Phospholipase A2, Group IVA, Deficiency of 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.