{"Name":"Congenital central hypothyroidism","DiseaseID__c":"GARD:0012280","id":12280,"encodedName":"congenital-central-hypothyroidism","IsDeleted":false,"Disease_Name_Full__c":"Congenital central hypothyroidism","Xref_IDs__c":"722938007; C113144; C4302200; MEDGEN:927869; MONDO:0016410; ORPHA:226298","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0016410","Disease_Description__c":"Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term) characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system.","GARD_Name__c":"Congenital central hypothyroidism","GARD_Synonym__c":"central congenital hypothyroidism; central hypothyroidism; hypothalamic-pituitary hypothyroidism; secondary hypothyroidism; thyroid stimulating hormone deficiency; thyrotropin deficiency; tsh deficiency","Curated_Disease_Description_Source__c":"MONDO:0016410","Curated_Disease_Description__c":"Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term) characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:226298","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0016410","ORPHANET_ID__c":"ORPHA:226298","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hipotiroidismo congénito central","Spanish_Description_Source__c":"ORPHA:226298","Spanish_Description__c":"El hipotiroidismo congénito secundario o central es un tipo de hipotiroidismo congénito permanente caracterizado por un déficit de hormonas tiroideas presente desde el nacimiento, consecuencia de un trastorno en el sistema hormona estimulante del tiroides (TSH) – hormona liberadora de tirotropina (TRH).","Spanish_Disease_Name__c":"hipotiroidismo congénito central","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":"Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term) characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system.","Curated_Disease_Description_Source__c":"MONDO:0016410","GARD_Synonym__c":"central congenital hypothyroidism; central hypothyroidism; hypothalamic-pituitary hypothyroidism; secondary hypothyroidism; thyroid stimulating hormone deficiency; thyrotropin deficiency; tsh deficiency","Name":"Congenital central hypothyroidism","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"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=927869","Source__c":"C4302200","Xref__c":"MEDGEN:927869"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4302200","Source__c":"C4302200","Xref__c":"C4302200"},{"URL__c":"https://www.orpha.net/en/disease/detail/226298","Source__c":"C4302200; MONDO:0016410","Xref__c":"ORPHA:226298"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C113144","Source__c":"MONDO:0016410","Xref__c":"C113144"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016410","Source__c":"GARD:0012280","Xref__c":"MONDO:0016410"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=722938007","Source__c":"C4302200","Xref__c":"722938007"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine"],"Specialist":["Genetics","Endocrine"]},"synonyms":["central congenital hypothyroidism"," central hypothyroidism"," hypothalamic-pituitary hypothyroidism"," secondary hypothyroidism"," thyroid stimulating hormone deficiency"," thyrotropin deficiency"," tsh deficiency"]}