{"Name":"Familial thyroglossal duct cyst","DiseaseID__c":"GARD:0005204","id":5204,"encodedName":"familial-thyroglossal-duct-cyst","IsDeleted":false,"Disease_Name_Full__c":"Familial thyroglossal duct cyst","Xref_IDs__c":"717331000; C3495590; C536909; MEDGEN:501211; MONDO:0008565; OMIM:188455; ORPHA:93953","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0008565","Disease_Description__c":"A very rare inherited form of TDC characterized by a mass measuring 3 cm in diameter or less in the midline area of the neck.","GARD_Name__c":"Familial thyroglossal duct cyst","GARD_Synonym__c":"hereditary thyroglossal duct cyst; hereditary thyroglossal duct cysts; thyroglossal duct cysts; thyroglossal duct cysts familial","Curated_Disease_Description_Source__c":"GARD:0005204","Curated_Disease_Description__c":"Familial thyroglossal duct cyst is a rare hereditary form of a benign congenital neck mass, known as a thyroglossal duct cyst (TDC). TDC is the most common congenital midline neck mass in the pediatric population. They present as a painless, palpable mass that develops around the midline and moves with swallowing. Other symptoms might include: fluctuation in size of mass, dysphagia, infection of mass, and mid-neck tenderness. TDCs are caused by abnormal development of the thyroid gland in fetal development. The cause of this abnormal development is largely not known and usually sporadic; however, in rare circumstances TDCs can be inherited. Familial TDC are commonly inherited in an autosomal dominant pattern with rare reports of autosomal recessive inheritance.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:93953","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008565","ORPHANET_ID__c":"ORPHA:93953","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Quiste del conducto tirogloso familiar","Spanish_Description_Source__c":"ORPHA:93953","Spanish_Description__c":"Es una forma hereditaria de quiste del conducto tirogloso (QCT) muy poco frecuente caracterizada por una masa de hasta 3 cm de diámetro localizada en la línea media del cuello.","Spanish_Disease_Name__c":"quiste del conducto tirogloso familiar","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:98036","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":"Familial thyroglossal duct cyst is a rare hereditary form of a benign congenital neck mass, known as a thyroglossal duct cyst (TDC). TDC is the most common congenital midline neck mass in the pediatric population. They present as a painless, palpable mass that develops around the midline and moves with swallowing. Other symptoms might include: fluctuation in size of mass, dysphagia, infection of mass, and mid-neck tenderness. TDCs are caused by abnormal development of the thyroid gland in fetal development. The cause of this abnormal development is largely not known and usually sporadic; however, in rare circumstances TDCs can be inherited. Familial TDC are commonly inherited in an autosomal dominant pattern with rare reports of autosomal recessive inheritance.","Curated_Disease_Description_Source__c":"GARD:0005204","GARD_Synonym__c":"hereditary thyroglossal duct cyst; hereditary thyroglossal duct cysts; thyroglossal duct cysts; thyroglossal duct cysts familial","Name":"Familial thyroglossal duct cyst","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer","Tag_Category__c":"Disease Category","category_description":"Cancer is a disease in which some of the body's cells grow uncontrollably and can spread to other parts of the body.","curated_tag_name":"Cancer"},{"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":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:93953"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:93953"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3495590","Source__c":"C3495590","Xref__c":"C3495590"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536909","Source__c":"MONDO:0008565","Xref__c":"C536909"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=717331000","Source__c":"C3495590; MONDO:0008565","Xref__c":"717331000"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=501211","Source__c":"C3495590","Xref__c":"MEDGEN:501211"},{"URL__c":"https://www.orpha.net/en/disease/detail/93953","Source__c":"C3495590; MONDO:0008565; ORPHA:93953","Xref__c":"ORPHA:93953"},{"URL__c":"https://www.omim.org/entry/188455","Source__c":"C3495590; MONDO:0008565; ORPHA:93953","Xref__c":"OMIM:188455"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008565","Source__c":"GARD:0005204","Xref__c":"MONDO:0008565"}],"tags":{"Disease Category":["Cancer","Endocrine","Congenital Abnormality"],"Specialist":["Endocrine","Otolaryngology","Pediatrics"]},"synonyms":["hereditary thyroglossal duct cyst"," hereditary thyroglossal duct cysts"," thyroglossal duct cysts"," thyroglossal duct cysts familial"]}