{"Name":"Primary adrenocortical insufficiency","DiseaseID__c":"GARD:0019803","id":19803,"encodedName":"primary-adrenocortical-insufficiency","IsDeleted":false,"Disease_Name_Full__c":"Primary adrenocortical insufficiency","Xref_IDs__c":"373662000; C0001403; C26689; D000224; DOID:13774; MEDGEN:1324; MONDO:0015129; ORPHA:101959","USA_Estimate__c":"200,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":2,"World_Estimate__c":"800,000 to 5,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0015129","Disease_Description__c":"Chronic primary adrenal insufficiency (CPAI) is a chronic disorder of the adrenal cortex resulting in the inadequate production of glucocorticoid and mineralocorticoid hormones.","GARD_Name__c":"Primary adrenocortical insufficiency","GARD_Synonym__c":"chronic adrenocorticoid insufficiency; chronic primary adrenal insufficiency; cpai; hypoadrenocorticism familial; hypoadrenocorticism, familial; primary adrenal insufficiency, chronic; primary hypoadrenalism","Curated_Disease_Description_Source__c":"MONDO:0015129","Curated_Disease_Description__c":"Your adrenal glands are just above your kidneys. The outside layer of these glands makes hormones that help your body respond to stress and regulate your blood pressure and water and salt balance. Addison disease happens if the adrenal glands don't make enough of these hormones.\r\n\r\nA problem with your immune system usually causes Addison disease. The immune system mistakenly attacks your own tissues, damaging your adrenal glands. Other causes include infections and cancer.\r\n\r\nSymptoms include weight loss, muscle weakness, fatigue that gets worse over time, low blood pressure, patchy or dark skin.\r\n\r\nLab tests can confirm that you have Addison disease. If you don't treat it, it can be fatal. You will need to take hormone pills for the rest of your life. If you have Addison disease, you should carry an emergency ID. It should say that you have the disease, list your medicines and say how much you need in an emergency.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:101959","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0015129","ORPHANET_ID__c":"ORPHA:101959","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Insuficiencia suprarrenal crónica primaria","Spanish_Description_Source__c":"ORPHA:101959","Spanish_Description__c":"La insuficiencia suprarrenal crónica primaria (CPAI) es un trastorno crónico de la corteza suprarrenal que resulta en una producción insuficiente de glucocorticoides y mineralocortocoides.","Spanish_Disease_Name__c":"insuficiencia suprarrenal crónica primaria","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":"Your adrenal glands are just above your kidneys. The outside layer of these glands makes hormones that help your body respond to stress and regulate your blood pressure and water and salt balance. Addison disease happens if the adrenal glands don't make enough of these hormones.\r\n\r\nA problem with your immune system usually causes Addison disease. The immune system mistakenly attacks your own tissues, damaging your adrenal glands. Other causes include infections and cancer.\r\n\r\nSymptoms include weight loss, muscle weakness, fatigue that gets worse over time, low blood pressure, patchy or dark skin.\r\n\r\nLab tests can confirm that you have Addison disease. If you don't treat it, it can be fatal. You will need to take hormone pills for the rest of your life. If you have Addison disease, you should carry an emergency ID. It should say that you have the disease, list your medicines and say how much you need in an emergency.","Curated_Disease_Description_Source__c":"MONDO:0015129","GARD_Synonym__c":"chronic adrenocorticoid insufficiency; chronic primary adrenal insufficiency; cpai; hypoadrenocorticism familial; hypoadrenocorticism, familial; primary adrenal insufficiency, chronic; primary hypoadrenalism","Name":"Primary adrenocortical insufficiency","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Raymond A. Wood Foundation","Website__c":"https://www.rawoodfoundation.org/"}],"GARD_Disease_Tag__c":[{"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":"All ages","Provided_By__c":"ORPHA:101959"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0001403","Source__c":"C0001403","Xref__c":"C0001403"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1324","Source__c":"C0001403","Xref__c":"MEDGEN:1324"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=373662000","Source__c":"MONDO:0015129","Xref__c":"373662000"},{"URL__c":"https://www.orpha.net/en/disease/detail/101959","Source__c":"C0001403; MONDO:0015129","Xref__c":"ORPHA:101959"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C26689","Source__c":"C0001403; MONDO:0015129","Xref__c":"C26689"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A13774","Source__c":"MONDO:0015129","Xref__c":"DOID:13774"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C000224","Source__c":"C0001403; MONDO:0015129","Xref__c":"D000224"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=363732003","Source__c":"C0001403","Xref__c":"363732003"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015129","Source__c":"GARD:0019803","Xref__c":"MONDO:0015129"},{"URL__c":"https://medlineplus.gov/addisondisease.html"},{"URL__c":"https://medlineplus.gov/genetics/condition/autoimmune-addison-disease"}],"Inheritance__c":["Non-Mendelian inheritance"],"tags":{"Disease Category":["Endocrine"],"Specialist":["Endocrine","Pediatrics"]},"synonyms":["chronic adrenocorticoid insufficiency"," chronic primary adrenal insufficiency"," cpai"," hypoadrenocorticism familial"," hypoadrenocorticism, familial"," primary adrenal insufficiency, chronic"," primary hypoadrenalism"]}