{"Name":"Anemia, sideroblastic, pyridoxine-responsive, autosomal recessive","DiseaseID__c":"GARD:0009872","id":9872,"encodedName":"anemia-sideroblastic-pyridoxine-responsive-autosomal-recessive","IsDeleted":false,"Disease_Name_Full__c":"Anemia, sideroblastic, pyridoxine-responsive, autosomal recessive","Xref_IDs__c":"191260004; C1859787; C565954; DOID:0060066; MEDGEN:395346; MONDO:0008786; OMIM:206000","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":0,"Disease_Characteristics_Score__c":0,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MEDGEN:C0272027","Disease_Description__c":"A type of sideroblastic anemia that is alleviated by pyridoxine (vitamin B-6) treatment.","GARD_Name__c":"Anemia, sideroblastic, pyridoxine-responsive, autosomal recessive","GARD_Synonym__c":"anemia congenital sideroblastic b6-responsive; b6-responsive sideroblastic anemia; pyridoxine-responsive sideroblastic anemia","Curated_Disease_Description_Source__c":"MEDGEN:C0272027","Curated_Disease_Description__c":"This rare blood disease is a type of sideroblastic anemia that improves with pyridoxine (vitamin B6) treatment. Sideroblastic anemia is a condition where the bone marrow makes red blood cells that cannot use iron properly, leading to ring-shaped iron deposits in the cells. In this disease, the anemia is linked to an autosomal recessive inheritance pattern, which means a person is affected when they receive a changed gene from both parents.","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:0008786","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":"This rare blood disease is a type of sideroblastic anemia that improves with pyridoxine (vitamin B6) treatment. Sideroblastic anemia is a condition where the bone marrow makes red blood cells that cannot use iron properly, leading to ring-shaped iron deposits in the cells. In this disease, the anemia is linked to an autosomal recessive inheritance pattern, which means a person is affected when they receive a changed gene from both parents.","Curated_Disease_Description_Source__c":"MEDGEN:C0272027","GARD_Synonym__c":"anemia congenital sideroblastic b6-responsive; b6-responsive sideroblastic anemia; pyridoxine-responsive sideroblastic anemia","Name":"Anemia, sideroblastic, pyridoxine-responsive, autosomal recessive","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.org"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0272027"},{"Type__c":"GTR","Curie__c":"MEDGEN:C1859787"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=191260004","Source__c":"MONDO:0008786","Xref__c":"191260004"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1859787","Source__c":"C1859787","Xref__c":"C1859787"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=395346","Source__c":"C1859787","Xref__c":"MEDGEN:395346"},{"URL__c":"https://www.omim.org/entry/206000","Source__c":"C1859787; MONDO:0008786","Xref__c":"OMIM:206000"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565954","Source__c":"MONDO:0008786","Xref__c":"C565954"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060066","Source__c":"MONDO:0008786","Xref__c":"DOID:0060066"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008786","Source__c":"GARD:0009872","Xref__c":"MONDO:0008786"}],"tags":{},"synonyms":["anemia congenital sideroblastic b6-responsive"," b6-responsive sideroblastic anemia"," pyridoxine-responsive sideroblastic anemia"]}