{"Name":"6-phosphogluconate dehydrogenase deficiency","DiseaseID__c":"GARD:0016897","id":16897,"encodedName":"6-phosphogluconate-dehydrogenase-deficiency","IsDeleted":false,"Disease_Name_Full__c":"6-phosphogluconate dehydrogenase deficiency","Xref_IDs__c":"C5543091; MEDGEN:1783871; MONDO:0020457; OMIM:619199; ORPHA:99135","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"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":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"ORPHA:99135","Disease_Description__c":"A rare constitutional hemolytic anemia characterized by a low 6-phosphogluconate dehydrogenase activity in the erythrocytes, which clinically manifests with a well-compensated chronic nonspherocytic hemolytic anemia and transient hemolytic periods with jaundice.","GARD_Name__c":"6-phosphogluconate dehydrogenase deficiency","GARD_Synonym__c":"6pgd deficiency; pgdd","Curated_Disease_Description_Source__c":"ORPHA:99135","Curated_Disease_Description__c":"A rare constitutional hemolytic anemia characterized by a low 6-phosphogluconate dehydrogenase activity in the erythrocytes, which clinically manifests with a well-compensated chronic nonspherocytic hemolytic anemia and transient hemolytic periods with jaundice.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:99135","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0020457","ORPHANET_ID__c":"ORPHA:99135","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia de 6-fosfogluconato deshidrogenasa","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"deficiencia de 6-fosfogluconato deshidrogenasa","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":"A rare constitutional hemolytic anemia characterized by a low 6-phosphogluconate dehydrogenase activity in the erythrocytes, which clinically manifests with a well-compensated chronic nonspherocytic hemolytic anemia and transient hemolytic periods with jaundice.","Curated_Disease_Description_Source__c":"ORPHA:99135","GARD_Synonym__c":"6pgd deficiency; pgdd","Name":"6-phosphogluconate dehydrogenase deficiency","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"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/619199","Source__c":"C5543091; MONDO:0020457; ORPHA:99135","Xref__c":"OMIM:619199"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1783871","Source__c":"C5543091","Xref__c":"MEDGEN:1783871"},{"URL__c":"https://www.orpha.net/en/disease/detail/99135","Source__c":"C5543091; MONDO:0020457; ORPHA:99135","Xref__c":"ORPHA:99135"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5543091","Source__c":"C5543091","Xref__c":"C5543091"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0020457","Source__c":"GARD:0016897","Xref__c":"MONDO:0020457"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Hematology"],"Specialist":["Genetics","Hematology"]},"synonyms":["6pgd deficiency"," pgdd"]}