{"Name":"Peripheral resistance to thyroid hormones","DiseaseID__c":"GARD:0012734","id":12734,"encodedName":"peripheral-resistance-to-thyroid-hormones","IsDeleted":false,"Disease_Name_Full__c":"Peripheral resistance to thyroid hormones","Xref_IDs__c":"718193005; C131275; C4273673; MEDGEN:902322; MONDO:0019995","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":3,"Disease_Characteristics_Score__c":1,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0019995","Disease_Description__c":"Peripheral resistance to thyroid hormones may be a cause of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth.","GARD_Name__c":"Peripheral resistance to thyroid hormones","GARD_Synonym__c":"peripheral resistance to thyroid hormone","Curated_Disease_Description_Source__c":"MEDGEN:C4273673","Curated_Disease_Description__c":"A permanent thyroid hormone deficiency that is present from birth. The majority of cases are asymptomatic but some may have features of hypothyroidism including decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice, myxedematous facies, large fontanelles (especially posterior), macroglossia, a distended abdomen with umbilical hernia, and hypotonia. In 90% of cases the peripheral resistance to thyroid hormones is caused by dominantly inherited mutations in genes encoding for thyroid hormone receptor beta.","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 Grouping","MONDO_ID__c":"MONDO:0019995","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 permanent thyroid hormone deficiency that is present from birth. The majority of cases are asymptomatic but some may have features of hypothyroidism including decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice, myxedematous facies, large fontanelles (especially posterior), macroglossia, a distended abdomen with umbilical hernia, and hypotonia. In 90% of cases the peripheral resistance to thyroid hormones is caused by dominantly inherited mutations in genes encoding for thyroid hormone receptor beta.","Curated_Disease_Description_Source__c":"MEDGEN:C4273673","GARD_Synonym__c":"peripheral resistance to thyroid hormone","Name":"Peripheral resistance to thyroid hormones","estimateUsa":""}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=902322","Source__c":"C4273673","Xref__c":"MEDGEN:902322"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4273673","Source__c":"C4273673","Xref__c":"C4273673"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=718193005","Source__c":"C4273673; MONDO:0019995","Xref__c":"718193005"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C131275","Source__c":"C4273673","Xref__c":"C131275"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019995","Source__c":"GARD:0012734","Xref__c":"MONDO:0019995"}],"tags":{},"synonyms":["peripheral resistance to thyroid hormone"]}