{"Name":"Platelet-type bleeding disorder 12","DiseaseID__c":"GARD:0010575","id":10575,"encodedName":"platelet-type-bleeding-disorder-12","IsDeleted":false,"Disease_Name_Full__c":"Platelet-type bleeding disorder 12","Xref_IDs__c":"C2751535; C567786; DOID:0111058; MEDGEN:414043; MONDO:0011588; OMIM:605735","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0011588","Disease_Description__c":"An inherited blood coagulation disease characterized by autosomal dominant inheritance of mildly increased bleeding, platelet aggregation defect, and impaired conversion of arachidonic acid to thromboxane A2 in platelets due to deficiency in PTGS1 activity.","GARD_Name__c":"Platelet-type bleeding disorder 12","GARD_Synonym__c":"bdplt12; pghs1 deficiency; platelet cox1 deficiency; platelet cyclooxygenase 1 deficiency; platelet prostaglandin-endoperoxide synthase 1 deficiency; prostaglandin-endoperoxide synthase 1 deficiency, platelet","Curated_Disease_Description_Source__c":"MONDO:0011588","Curated_Disease_Description__c":"An inherited blood coagulation disease characterized by autosomal dominant inheritance of mildly increased bleeding, platelet aggregation defect, and impaired conversion of arachidonic acid to thromboxane A2 in platelets due to deficiency in PTGS1 activity.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011588","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"An inherited blood coagulation disease characterized by autosomal dominant inheritance of mildly increased bleeding, platelet aggregation defect, and impaired conversion of arachidonic acid to thromboxane A2 in platelets due to deficiency in PTGS1 activity.","Curated_Disease_Description_Source__c":"MONDO:0011588","GARD_Synonym__c":"bdplt12; pghs1 deficiency; platelet cox1 deficiency; platelet cyclooxygenase 1 deficiency; platelet prostaglandin-endoperoxide synthase 1 deficiency; prostaglandin-endoperoxide synthase 1 deficiency, platelet","Name":"Platelet-type bleeding disorder 12","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Bleeding Disorders Foundation","Website__c":"https://www.bleeding.org/"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=414043","Source__c":"C2751535","Xref__c":"MEDGEN:414043"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2751535","Source__c":"C2751535","Xref__c":"C2751535"},{"URL__c":"https://www.omim.org/entry/605735","Source__c":"C2751535; MONDO:0011588","Xref__c":"OMIM:605735"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111058","Source__c":"MONDO:0011588","Xref__c":"DOID:0111058"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567786","Source__c":"MONDO:0011588","Xref__c":"C567786"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011588","Source__c":"GARD:0010575","Xref__c":"MONDO:0011588"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:605735","Feature__r":{"HPO_Description__c":"Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000132","HPO_Synonym__c":"Abnormally heavy bleeding during menstruation; Abnormally heavy periods; Hypermenorrhea","HPO_Name__c":"Menorrhagia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:605735","Feature__r":{"HPO_Description__c":"Hemorrhage occurring within a joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005261","HPO_Synonym__c":"Bleeding within a joint; Hemarthroses; Hemarthrosis; Joint hemorrhage; Spontaneous joint hemorrhage","HPO_Name__c":"Joint hemorrhage","Feature_System__c":"Musculoskeletal System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:605735","Feature__r":{"HPO_Description__c":"Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000421","HPO_Synonym__c":"Bloody nose; Frequent nosebleeds; Nasal hemorrhage; Nose bleed; Nose bleeding; Nosebleed","HPO_Name__c":"Epistaxis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:605735","Feature__r":{"HPO_Description__c":"Bleeding from the intestines.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002584","HPO_Synonym__c":"Intestinal bleeding; Intestinal hemorrhage","HPO_Name__c":"Intestinal bleeding","Feature_System__c":"Cardiovascular System; Digestive System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:605735","Feature__r":{"HPO_Description__c":"An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000978","HPO_Synonym__c":"Bruisability; Bruise easily; Bruising susceptibility; Easy bruisability; Easy bruising","HPO_Name__c":"Bruising susceptibility","Feature_System__c":"Skin System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:605735","Feature__r":{"HPO_Description__c":"An impairment in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003540","HPO_Synonym__c":"Defective platelet aggregation; Deficient platelet aggregation; Platelet aggregation defect","HPO_Name__c":"Impaired platelet aggregation","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["bdplt12"," pghs1 deficiency"," platelet cox1 deficiency"," platelet cyclooxygenase 1 deficiency"," platelet prostaglandin-endoperoxide synthase 1 deficiency"," prostaglandin-endoperoxide synthase 1 deficiency, platelet"]}