{"Name":"Congenital adrenal hyperplasia","DiseaseID__c":"GARD:0001467","id":1467,"encodedName":"congenital-adrenal-hyperplasia","IsDeleted":false,"Disease_Name_Full__c":"Congenital adrenal hyperplasia","Xref_IDs__c":"237751000; C0001627; C34360; D000312; DOID:0050811; HP:0008258; MEDGEN:7900; MONDO:0018479; ORPHA:418","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0018479","Disease_Description__c":"A group of rare inherited endocrine disorders caused by a steroidogenic enzyme deficiency and characterized by adrenal insufficiency and variable degrees of hyper- or hypoandrogenism manifestations, depending on disease type and severity.","GARD_Name__c":"Congenital adrenal hyperplasia","GARD_Synonym__c":"adrenal hyperplasia, congenital; cah; cah - congenital adrenal hyperplasia; congenital adrenal gland hyperplasia; congenital adrenogenital syndrome","Curated_Disease_Description_Source__c":"GARD:0001467","Curated_Disease_Description__c":"Congenital adrenal hyperplasia (CAH) refers to a group of genetic conditions that affect the adrenal glands. These glands sit on top of the kidneys and are responsible for releasing various types of hormones that the body needs to function. Affected people lack an enzyme the adrenal glands need to make one or more of these hormones and often overproduce androgens (male hormones such as testosterone). For example, females with a severe form of the condition may have ambiguous genitalia at birth and if not properly diagnosed, develop dehydration, poor feeding, diarrhea, vomiting and other health problems soon after. People with milder forms may not be diagnosed with the condition until adolescence or adulthood when they experience early signs of puberty or fertility problems.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:418","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018479","ORPHANET_ID__c":"ORPHA:418","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hiperplasia suprarrenal congénita","Spanish_Description_Source__c":"ORPHA:418","Spanish_Description__c":"Es un grupo de trastornos endocrinos hereditarios poco frecuentes causados por una deficiencia de enzimas esteroidogénicas y caracterizados por insuficiencia suprarrenal y grados variables de manifestaciones de hiperandrogenismo o hipoandrogenismo, según el tipo de enfermedad y gravedad.","Spanish_Disease_Name__c":"hiperplasia suprarrenal congénita","Spanish_GARD_Synonym__c":"cah; hsc","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":"Congenital adrenal hyperplasia (CAH) refers to a group of genetic conditions that affect the adrenal glands. These glands sit on top of the kidneys and are responsible for releasing various types of hormones that the body needs to function. Affected people lack an enzyme the adrenal glands need to make one or more of these hormones and often overproduce androgens (male hormones such as testosterone). For example, females with a severe form of the condition may have ambiguous genitalia at birth and if not properly diagnosed, develop dehydration, poor feeding, diarrhea, vomiting and other health problems soon after. People with milder forms may not be diagnosed with the condition until adolescence or adulthood when they experience early signs of puberty or fertility problems.","Curated_Disease_Description_Source__c":"GARD:0001467","GARD_Synonym__c":"adrenal hyperplasia, congenital; cah; cah - congenital adrenal hyperplasia; congenital adrenal gland hyperplasia; congenital adrenogenital syndrome","Name":"Congenital adrenal hyperplasia","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"The MAGIC Foundation","Website__c":"https://www.magicfoundation.org/"},{"Account_Name__c":"CAH Support Group","Website__c":"https://www.livingwithcah.com"},{"Account_Name__c":"CARES Foundation","Website__c":"https://caresfoundation.org/"},{"Account_Name__c":"Accord Alliance","Website__c":"http://www.accordalliance.org/"},{"Account_Name__c":"Adrenal Insufficiency United","Website__c":"https://aiunited.org/"},{"Account_Name__c":"National Adrenal Diseases Foundation","Website__c":"https://www.nadf.us"}],"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"}],"Diagnosis__c":[{"Type__c":"NEWBORN","Category__c":"Core","Curie__c":"http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/CAH-SW"},{"Type__c":"NEWBORN","Category__c":"Other","Curie__c":"http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/CAH-11B-OHD"},{"Type__c":"NEWBORN","Category__c":"Core","Curie__c":"http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/CAH-SV"},{"Type__c":"NEWBORN","Category__c":"Core","Curie__c":"http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/CAH-NC"},{"Type__c":"GTR","Curie__c":"MEDGEN:C0001627"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C000312","Source__c":"C0001627; MONDO:0018479","Xref__c":"D000312"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C34360","Source__c":"C0001627; MONDO:0018479","Xref__c":"C34360"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=237751000","Source__c":"C0001627; MONDO:0018479","Xref__c":"237751000"},{"URL__c":"https://www.orpha.net/en/disease/detail/418","Source__c":"C0001627; MONDO:0018479; ORPHA:418","Xref__c":"ORPHA:418"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050811","Source__c":"MONDO:0018479","Xref__c":"DOID:0050811"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0001627","Source__c":"C0001627","Xref__c":"C0001627"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=7900","Source__c":"C0001627","Xref__c":"MEDGEN:7900"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0008258","Source__c":"C0001627","Xref__c":"HP:0008258"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018479","Source__c":"GARD:0001467","Xref__c":"MONDO:0018479"}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine"],"Specialist":["Genetics","Endocrine"]},"synonyms":["adrenal hyperplasia, congenital"," cah"," cah - congenital adrenal hyperplasia"," congenital adrenal gland hyperplasia"," congenital adrenogenital syndrome"]}