{"Name":"Paris-Trousseau thrombocytopenia","DiseaseID__c":"GARD:0004224","id":4224,"encodedName":"paris-trousseau-thrombocytopenia","IsDeleted":false,"Disease_Name_Full__c":"Paris-Trousseau thrombocytopenia","Xref_IDs__c":"C1956093; MEDGEN:365037; MONDO:0008557; OMIM:188025; ORPHA:851","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0008557","Disease_Description__c":"Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis.","GARD_Name__c":"Paris-Trousseau thrombocytopenia","GARD_Synonym__c":"chromosome 11q23 deletion syndrome; tcpt; thrombocytopenia, paris-trousseau type, isolated cases","Curated_Disease_Description_Source__c":"MONDO:0008557","Curated_Disease_Description__c":"Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:851","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008557","ORPHANET_ID__c":"ORPHA:851","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Trombocitopenia de paris-trousseau","Spanish_Description_Source__c":"ORPHA:851","Spanish_Description__c":"Es un síndrome de genes contiguos caracterizado por una leve tendencia al sangrado, trombocitopenia variable, facies dismórfica, gránulos alfa plaquetarios gigantes y anómalos y dismegacariopoyesis.","Spanish_Disease_Name__c":"trombocitopenia de paris-trousseau","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:97992","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":"Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis.","Curated_Disease_Description_Source__c":"MONDO:0008557","GARD_Synonym__c":"chromosome 11q23 deletion syndrome; tcpt; thrombocytopenia, paris-trousseau type, isolated cases","Name":"Paris-Trousseau thrombocytopenia","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Chromosomal Anomaly","Tag_Category__c":"Account;Cause","curated_tag_name":"Chromosome disorders"},{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Hematology","Tag_Category__c":"Disease Category;Specialist","category_description":"Blood diseases affect the blood or blood-forming organs, including red blood cells, white blood cells, platelets, plasma, and bone marrow.","curated_tag_name":"Blood diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:851"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:851"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1956093"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0004224","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/entry/188025","Source__c":"C1956093; MONDO:0008557; ORPHA:851","Xref__c":"OMIM:188025"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=365037","Source__c":"C1956093","Xref__c":"MEDGEN:365037"},{"URL__c":"https://www.orpha.net/en/disease/detail/851","Source__c":"C1956093; MONDO:0008557; ORPHA:851","Xref__c":"ORPHA:851"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1956093","Source__c":"C1956093","Xref__c":"C1956093"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008557","Source__c":"GARD:0004224","Xref__c":"MONDO:0008557"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:851","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any abnormality of the cardiovascular system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001626","HPO_Synonym__c":"Abnormality of the cardiovascular system; Cardiovascular abnormality","HPO_Name__c":"Abnormality of the cardiovascular system","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:851","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Account":["Chromosomal Anomaly"],"Cause":["Chromosomal Anomaly","Genetics"],"Disease Category":["Genetics","Hematology","Congenital Abnormality"],"Specialist":["Genetics","Hematology","Pediatrics"]},"synonyms":["chromosome 11q23 deletion syndrome"," tcpt"," thrombocytopenia, paris-trousseau type, isolated cases"]}