{"Name":"Pernicious anemia","DiseaseID__c":"GARD:0027356","id":27356,"encodedName":"pernicious-anemia","IsDeleted":false,"Disease_Name_Full__c":"Pernicious anemia","Xref_IDs__c":"84027009; C0002892; C2871; D000752; D51.0; DOID:13381; MEDGEN:1531; MONDO:0008228; OMIM:170900","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":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":null,"Disease_Description__c":null,"GARD_Name__c":"Pernicious anemia","GARD_Synonym__c":"acquired pernicious anaemia; acquired pernicious anemia; addison anaemia; addison anemia; addison-biermer anaemia; addison-biermer anemia; addison's anaemia; addison's anemia; addisonian pernicious anemia; anaemia pernicious; anemia pernicious; biermer anaemia; biermer anemia; biermer disease; biermer's anaemia; biermer's anemia; intrinsic factor deficiency; juvenile onset pernicious anaemia; juvenile onset pernicious anemia; megaloblastic anemia due to impaired absorption of cobalamin","Curated_Disease_Description_Source__c":null,"Curated_Disease_Description__c":"Biermer's disease, also called acquired Pernicious anemia, is a condition in which the body is unable to properly utilize vitamin B12. Because vitamin B12 is essential for the formation of red blood cells, this condition is primarily characterized by anemia (too few red blood cells). Affected people may also experience gastrointestinal issues and neurological abnormalities (such as paresthesia, weakness, and clumsiness). Biermer's disease and other forms of Pernicious anemia are thought to be autoimmune conditions which occur when the body's immune system mistakenly attacks healthy tissue.","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:0008228","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":"Biermer's disease, also called acquired Pernicious anemia, is a condition in which the body is unable to properly utilize vitamin B12. Because vitamin B12 is essential for the formation of red blood cells, this condition is primarily characterized by anemia (too few red blood cells). Affected people may also experience gastrointestinal issues and neurological abnormalities (such as paresthesia, weakness, and clumsiness). Biermer's disease and other forms of Pernicious anemia are thought to be autoimmune conditions which occur when the body's immune system mistakenly attacks healthy tissue.","GARD_Synonym__c":"acquired pernicious anaemia; acquired pernicious anemia; addison anaemia; addison anemia; addison-biermer anaemia; addison-biermer anemia; addison's anaemia; addison's anemia; addisonian pernicious anemia; anaemia pernicious; anemia pernicious; biermer anaemia; biermer anemia; biermer disease; biermer's anaemia; biermer's anemia; intrinsic factor deficiency; juvenile onset pernicious anaemia; juvenile onset pernicious anemia; megaloblastic anemia due to impaired absorption of cobalamin","Name":"Pernicious anemia","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Autoimmune Association","Website__c":"https://autoimmune.org/"}],"External_Identifier_Disease__c":[{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008228","Source__c":"GARD:0027356","Xref__c":"MONDO:0008228"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1531","Source__c":"C0002892","Xref__c":"MEDGEN:1531"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C2871","Source__c":"C0002892; MONDO:0008228","Xref__c":"C2871"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=84027009","Source__c":"C0002892; MONDO:0008228","Xref__c":"84027009"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0002892","Source__c":"C0002892","Xref__c":"C0002892"},{"URL__c":"https://www.omim.org/entry/170900","Source__c":"C0002892; MONDO:0008228","Xref__c":"OMIM:170900"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C000752","Source__c":"C0002892; MONDO:0008228","Xref__c":"D000752"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/D51.0","Source__c":"MONDO:0008228","Xref__c":"D51.0"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A13381","Source__c":"MONDO:0008228","Xref__c":"DOID:13381"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:170900","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200118","HPO_Name__c":"Malabsorption of Vitamin B12","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:170900","Feature__r":{"HPO_Description__c":"Anemia characterized by the presence of erythroblasts that are larger than normal (megaloblasts).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001889","HPO_Name__c":"Megaloblastic anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["acquired pernicious anaemia"," acquired pernicious anemia"," addison anaemia"," addison anemia"," addison-biermer anaemia"," addison-biermer anemia"," addison's anaemia"," addison's anemia"," addisonian pernicious anemia"," anaemia pernicious"," anemia pernicious"," biermer anaemia"," biermer anemia"," biermer disease"," biermer's anaemia"," biermer's anemia"," intrinsic factor deficiency"," juvenile onset pernicious anaemia"," juvenile onset pernicious anemia"," megaloblastic anemia due to impaired absorption of cobalamin"]}