{"Name":"Methemoglobin reductase deficiency","DiseaseID__c":"GARD:0003909","id":3909,"encodedName":"methemoglobin-reductase-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Methemoglobin reductase deficiency","Xref_IDs__c":"234397008; C0472786; C101043; C563171; MEDGEN:501116; MONDO:0009604; OMIM:250700","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":1,"No_of_Age_at_Onset__c":0,"Description_Source__c":"OMIM:250700","Disease_Description__c":null,"GARD_Name__c":"Methemoglobin reductase deficiency","GARD_Synonym__c":"nadph-dependent methemoglobin reductase deficiency; tpnh-methemoglobin reductase deficiency","Curated_Disease_Description_Source__c":"OMIM:250700","Curated_Disease_Description__c":"Methemoglobin reductase deficiency is an autosomal recessive blood disorder caused by deficiency of NADPH (TPNH)-methemoglobin reductase. Methylene-blue screening tests, usually used to detect G6PD deficiency, show abnormal red blood cells, but G6PD activity is normal.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:250700","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009604","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":"Methemoglobin reductase deficiency is an autosomal recessive blood disorder caused by deficiency of NADPH (TPNH)-methemoglobin reductase. Methylene-blue screening tests, usually used to detect G6PD deficiency, show abnormal red blood cells, but G6PD activity is normal.","Curated_Disease_Description_Source__c":"OMIM:250700","GARD_Synonym__c":"nadph-dependent methemoglobin reductase deficiency; tpnh-methemoglobin reductase deficiency","Name":"Methemoglobin reductase deficiency","estimateUsa":""}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=501116","Source__c":"C0472786","Xref__c":"MEDGEN:501116"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563171","Source__c":"MONDO:0009604","Xref__c":"C563171"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=234397008","Source__c":"MONDO:0009604","Xref__c":"234397008"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0472786","Source__c":"C0472786","Xref__c":"C0472786"},{"URL__c":"https://www.omim.org/entry/250700","Source__c":"C0472786; MONDO:0009604","Xref__c":"OMIM:250700"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009604","Source__c":"GARD:0003909","Xref__c":"MONDO:0009604"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C101043","Source__c":"C0472786","Xref__c":"C101043"}],"tags":{},"synonyms":["nadph-dependent methemoglobin reductase deficiency"," tpnh-methemoglobin reductase deficiency"]}