{"Name":"Insulin-resistance syndrome type B","DiseaseID__c":"GARD:0003009","id":3009,"encodedName":"insulin-resistance-syndrome-type-b","IsDeleted":false,"Disease_Name_Full__c":"Insulin-resistance syndrome type B","Xref_IDs__c":"C0342337; MEDGEN:574967; MONDO:0016464; ORPHA:2298","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":2,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":4,"Description_Source__c":"MONDO:0016464","Disease_Description__c":"A rare genetic disease that belongs to the group of extreme insulin-resistance syndromes and is due to autoantibodies directed against insulin receptor.","GARD_Name__c":"Insulin-resistance syndrome type B","GARD_Synonym__c":"insulin resistance - type b","Curated_Disease_Description_Source__c":"MONDO:0016464","Curated_Disease_Description__c":"A rare genetic disease that belongs to the group of extreme insulin-resistance syndromes and is due to autoantibodies directed against insulin receptor.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:2298","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016464","ORPHANET_ID__c":"ORPHA:2298","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de resistencia a la insulina tipo b","Spanish_Description_Source__c":"ORPHA:2298","Spanish_Description__c":"Es una enfermedad de base genética poco frecuente, perteneciente al grupo de síndromes de resistencia extrema a la insulina, debida a la presencia de autoanticuerpos dirigidos contra el receptor de insulina.","Spanish_Disease_Name__c":"síndrome de resistencia a la insulina tipo b","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:97978","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 genetic disease that belongs to the group of extreme insulin-resistance syndromes and is due to autoantibodies directed against insulin receptor.","Curated_Disease_Description_Source__c":"MONDO:0016464","GARD_Synonym__c":"insulin resistance - type b","Name":"Insulin-resistance syndrome type B","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":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:2298"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:2298"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:2298"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:2298"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=574967","Source__c":"C0342337","Xref__c":"MEDGEN:574967"},{"URL__c":"https://www.orpha.net/en/disease/detail/2298","Source__c":"C0342337; MONDO:0016464; ORPHA:2298","Xref__c":"ORPHA:2298"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0342337","Source__c":"C0342337","Xref__c":"C0342337"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=237652003","Source__c":"C0342337","Xref__c":"237652003"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016464","Source__c":"GARD:0003009","Xref__c":"MONDO:0016464"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2298","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000147","HPO_Synonym__c":"Polycystic ovary; Sclerocystic ovaries","HPO_Name__c":"Polycystic ovaries","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2298","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of diabetic metabolic abnormality with an accumulation of ketone bodies.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001953","HPO_Synonym__c":"Diabetic ketosis","HPO_Name__c":"Diabetic ketoacidosis","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2298","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000855","HPO_Synonym__c":"Body fails to respond to insulin","HPO_Name__c":"Insulin resistance","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2298","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of any part of the lung parenchyma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002090","HPO_Synonym__c":"Pneumonia","HPO_Name__c":"Pneumonia","Feature_System__c":"Respiratory system; 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Reduced albumin concentration; Reduced albumin level; Reduced albumin level in blood","HPO_Name__c":"Hypoalbuminemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2298","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005978","HPO_Synonym__c":"Diabetes mellitus Type II; Diabetes mellitus, noninsulin-dependent; NIDDM; NIDDM diabetes mellitus; Non-insulin dependent diabetes; Noninsulin dependent diabetes mellitus; Noninsulin-dependent diabetes; Type 2 diabetes; Type II diabetes","HPO_Name__c":"Type II diabetes mellitus","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2298","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduction of total body weight.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001824","HPO_Synonym__c":"Loss of weight","HPO_Name__c":"Weight loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2298","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003565","HPO_Synonym__c":"Elevated ESR; Elevated sedimentation rate; High erythrocyte sedimentation rate; High ESR; Increased erythrocyte sedimentation rate; Raised erythrocyte sedimentation rate","HPO_Name__c":"Elevated erythrocyte sedimentation rate","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2298","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as well as in fasting and postprandial serum insulin levels.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000831","HPO_Synonym__c":"Insulin resistant diabetes; Insulin resistant diabetes mellitus; Insulin-resistant diabetes","HPO_Name__c":"Insulin-resistant diabetes mellitus","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2298","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduction in the number of circulating thrombocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001873","HPO_Synonym__c":"Low platelet count","HPO_Name__c":"Thrombocytopenia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2298","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001952","HPO_Synonym__c":"Glucose intolerance","HPO_Name__c":"Glucose intolerance","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2298","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100879","HPO_Synonym__c":"Enlarged ovaries","HPO_Name__c":"Enlarged ovaries","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2298","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Progressive destruction of the small-to-medium bile ducts of the intrahepatic biliary tree, which leads to progressive cholestasis and often end-stage liver disease.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002613","HPO_Name__c":"Biliary cirrhosis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2298","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased concentration of glucose in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003074","HPO_Synonym__c":"High blood glucose; 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