ONTOLOGY REPORT - ANNOTATIONS


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
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Phospholipase A2, Group IVA, Deficiency of term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pla2g4a phospholipase A2 group IVA JBrowse link 13 67,062,252 67,206,688 RGD:7240710
RGD:8554872

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  disease 14926
    Nutritional and Metabolic Diseases 4280
      disease of metabolism 4280
        lipid metabolism disorder 731
          Phospholipase A2, Group IVA, Deficiency of 1
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  disease 14926
    disease of anatomical entity 14096
      Hemic and Lymphatic Diseases 1592
        hematopoietic system disease 1376
          blood coagulation disease 392
            hemorrhagic disease 378
              blood platelet disease 193
                Phospholipase A2, Group IVA, Deficiency of 1
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