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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:Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets
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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.
Synonyms:exact_synonym: GURDP;   Phospholipase A2, Group IVA, Deficiency of
 primary_id: MIM:618372;   RDO:9001198
 xref: EFO:0010263


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Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pla2g4a phospholipase A2 group 4A ISO ClinVar Annotator: match by term: Deficiency of phospholipase A2, group IVA OMIM
ClinVar		 PMID:18451993 PMID:23268370 PMID:25102815 PMID:25741868 PMID:28492532 NCBI chr13:61,877,818...62,022,261
Ensembl chr13:61,877,813...62,022,266 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19100
    disease of anatomical entity 18440
      gastrointestinal system disease 7176
        Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets 1
Path 2
Term Annotations click to browse term
  disease 19100
    disease of anatomical entity 18440
      Hemic and Lymphatic Diseases 4332
        hematopoietic system disease 3822
          blood coagulation disease 1442
            hemorrhagic disease 1396
              blood platelet disease 450
                Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets 1
paths to the root