{"Name":"Hypothyroidism due to iodide transport defect","DiseaseID__c":"GARD:0002938","id":2938,"encodedName":"hypothyroidism-due-to-iodide-transport-defect","IsDeleted":false,"Disease_Name_Full__c":"Hypothyroidism due to iodide transport defect","Xref_IDs__c":"22558005; C0271826; C121747; MEDGEN:124412; MONDO:0043103","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":1,"Disease_Characteristics_Score__c":1,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0043103","Disease_Description__c":"A condition associated with reduced active import of iodide across the basolateral membrane of the follicular cells of the thyroid gland. Inactivating mutations in the SLC5A5 gene encoding the sodium-iodide symporter are responsible for the condition.","GARD_Name__c":"Hypothyroidism due to iodide transport defect","GARD_Synonym__c":"gdth i; genetic defect in thyroid hormonogenesis i; hypothyroidism due to iodide concentration defect; iodide transport defect; iodide transport failure; iodine accumulation defect; iodine transport defect","Curated_Disease_Description_Source__c":"MONDO:0043103","Curated_Disease_Description__c":"A condition associated with reduced active import of iodide across the basolateral membrane of the follicular cells of the thyroid gland. Inactivating mutations in the SLC5A5 gene encoding the sodium-iodide symporter are responsible for the condition.","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:0043103","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":"A condition associated with reduced active import of iodide across the basolateral membrane of the follicular cells of the thyroid gland. Inactivating mutations in the SLC5A5 gene encoding the sodium-iodide symporter are responsible for the condition.","Curated_Disease_Description_Source__c":"MONDO:0043103","GARD_Synonym__c":"gdth i; genetic defect in thyroid hormonogenesis i; hypothyroidism due to iodide concentration defect; iodide transport defect; iodide transport failure; iodine accumulation defect; iodine transport defect","Name":"Hypothyroidism due to iodide transport defect","estimateUsa":""}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=22558005","Source__c":"C0271826; MONDO:0043103","Xref__c":"22558005"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C121747","Source__c":"C0271826; MONDO:0043103","Xref__c":"C121747"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0271826","Source__c":"C0271826","Xref__c":"C0271826"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=124412","Source__c":"C0271826","Xref__c":"MEDGEN:124412"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0043103","Source__c":"GARD:0002938","Xref__c":"MONDO:0043103"}],"tags":{},"synonyms":["gdth i"," genetic defect in thyroid hormonogenesis i"," hypothyroidism due to iodide concentration defect"," iodide transport defect"," iodide transport failure"," iodine accumulation defect"," iodine transport defect"]}