{"Name":"Autosomal recessive secondary polycythemia not associated with VHL gene","DiseaseID__c":"GARD:0020658","id":20658,"encodedName":"autosomal-recessive-secondary-polycythemia-not-associated-with-vhl-gene","IsDeleted":false,"Disease_Name_Full__c":"Autosomal recessive secondary polycythemia not associated with VHL gene","Xref_IDs__c":"CN226972; MEDGEN:832660; MONDO:0016598; ORPHA:247378","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:247378","Disease_Description__c":"A rare, hereditary, hematologic disease characterized by an increase in hemoglobin, hematocrit and erythrocyte mass resulting in plethora or ruddy complexion, headache, dizziness, tinnitus and exertional dyspnea. In some cases, thrombophlebitis and arthralgia have also been reported.","GARD_Name__c":"Autosomal recessive secondary polycythemia not associated with VHL gene","GARD_Synonym__c":"autosomal recessive secondary erythrocytosis not associated with vhl gene; autosomal recessive secondary erythrocytosis, non-chuvash type; autosomal recessive secondary polycythemia, non-chuvash type","Curated_Disease_Description_Source__c":"ORPHA:247378","Curated_Disease_Description__c":"A rare, hereditary, hematologic disease characterized by an increase in hemoglobin, hematocrit and erythrocyte mass resulting in plethora or ruddy complexion, headache, dizziness, tinnitus and exertional dyspnea. In some cases, thrombophlebitis and arthralgia have also been reported.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:247378","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016598","ORPHANET_ID__c":"ORPHA:247378","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Policitemia secundaria autosómica recesiva no asociada a vhl","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"policitemia secundaria autosómica recesiva no asociada a vhl","Spanish_GARD_Synonym__c":"eritrocitosis secundaria autosómica recesiva no asociada a vhl; eritrocitosis secundaria autosómica recesiva tipo no-chuvash; policitemia secundaria autosómica recesiva tipo no-chuvash","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":"A rare, hereditary, hematologic disease characterized by an increase in hemoglobin, hematocrit and erythrocyte mass resulting in plethora or ruddy complexion, headache, dizziness, tinnitus and exertional dyspnea. In some cases, thrombophlebitis and arthralgia have also been reported.","Curated_Disease_Description_Source__c":"ORPHA:247378","GARD_Synonym__c":"autosomal recessive secondary erythrocytosis not associated with vhl gene; autosomal recessive secondary erythrocytosis, non-chuvash type; autosomal recessive secondary polycythemia, non-chuvash type","Name":"Autosomal recessive secondary polycythemia not associated with VHL gene","estimateUsa":""}],"GARD_Disease_Tag__c":[{"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:247378"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:247378"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/247378","Source__c":"CN226972; MONDO:0016598","Xref__c":"ORPHA:247378"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=832660","Source__c":"CN226972","Xref__c":"MEDGEN:832660"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016598","Source__c":"GARD:0020658","Xref__c":"MONDO:0016598"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/CN226972","Source__c":"CN226972","Xref__c":"CN226972"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"BPGM","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Hematology"],"Specialist":["Genetics","Hematology","Pediatrics"]},"synonyms":["autosomal recessive secondary erythrocytosis not associated with vhl gene"," autosomal recessive secondary erythrocytosis, non-chuvash type"," autosomal recessive secondary polycythemia, non-chuvash type"]}