{"Name":"Macroglossia","DiseaseID__c":"GARD:0003342","id":3342,"encodedName":"macroglossia","IsDeleted":false,"Disease_Name_Full__c":"Macroglossia","Xref_IDs__c":"C0024421; C84832; D008260; HP:0000158; MEDGEN:44236; MONDO:0015496; ORPHA:156207","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":3,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0015496","Disease_Description__c":"The presence of an excessively large tongue, which may be congenital or may develop as a result of a tumor or edema due to obstruction of lymphatic vessels, or it may occur in association with hyperpituitarism or acromegaly. It also may be associated with malocclusion because of pressure of the tongue on the teeth. (From Jablonski, Dictionary of Dentistry, 1992)","GARD_Name__c":"Macroglossia","GARD_Synonym__c":"abnormally large tongue; enlarged tongue; enlargement of tongue; giant tongue; glossal hypertrophy; hyperplasia of the tongue; hypertrophy of the tongue; increased size of tongue; large tongue; lingual hyperplasia; lingual hypertrophy; tongue hypertrophy","Curated_Disease_Description_Source__c":"GARD:0003342","Curated_Disease_Description__c":"Macroglossia is the abnormal enlargement of the tongue in proportion to other structures in the mouth. It usually occurs secondary to an underlying disorder that may be present from birth (congenital) or acquired. In rare cases, it is an isolated, congenital feature. Symptoms associated with Macroglossia may include drooling; speech impairment; difficulty eating; stridor; snoring; airway obstruction; abnormal growth of the jaw and teeth; ulceration; and/or dying tissue on the tip of the tongue. The tongue may protrude from the mouth. Inherited or congenital disorders associated with Macroglossia include Down syndrome, Beckwith-Wiedemann syndrome, primary amyloidosis, and congenital hypothyroidism. Acquired causes may include trauma, cancer, endocrine disorders, and inflammatory or infectious diseases. Isolated, congenital Macroglossia can be genetic, inherited in an autosomal dominant manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:156207","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0015496","ORPHANET_ID__c":"ORPHA:156207","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Macroglosia","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"macroglosia","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:93890","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":"Macroglossia is the abnormal enlargement of the tongue in proportion to other structures in the mouth. It usually occurs secondary to an underlying disorder that may be present from birth (congenital) or acquired. In rare cases, it is an isolated, congenital feature. Symptoms associated with Macroglossia may include drooling; speech impairment; difficulty eating; stridor; snoring; airway obstruction; abnormal growth of the jaw and teeth; ulceration; and/or dying tissue on the tip of the tongue. The tongue may protrude from the mouth. Inherited or congenital disorders associated with Macroglossia include Down syndrome, Beckwith-Wiedemann syndrome, primary amyloidosis, and congenital hypothyroidism. Acquired causes may include trauma, cancer, endocrine disorders, and inflammatory or infectious diseases. Isolated, congenital Macroglossia can be genetic, inherited in an autosomal dominant manner.","Curated_Disease_Description_Source__c":"GARD:0003342","GARD_Synonym__c":"abnormally large tongue; enlarged tongue; enlargement of tongue; giant tongue; glossal hypertrophy; hyperplasia of the tongue; hypertrophy of the tongue; increased size of tongue; large tongue; lingual hyperplasia; lingual hypertrophy; tongue hypertrophy","Name":"Macroglossia","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":"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"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0024421"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=44236","Source__c":"C0024421","Xref__c":"MEDGEN:44236"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C008260","Source__c":"C0024421; MONDO:0015496","Xref__c":"D008260"},{"URL__c":"https://www.orpha.net/en/disease/detail/156207","Source__c":"C0024421; MONDO:0015496; ORPHA:156207","Xref__c":"ORPHA:156207"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0024421","Source__c":"C0024421","Xref__c":"C0024421"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=25273001","Source__c":"C0024421","Xref__c":"25273001"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015496","Source__c":"GARD:0003342","Xref__c":"MONDO:0015496"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0000158","Source__c":"C0024421","Xref__c":"HP:0000158"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84832","Source__c":"C0024421","Xref__c":"C84832"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Otolaryngology"]},"synonyms":["abnormally large tongue"," enlarged tongue"," enlargement of tongue"," giant tongue"," glossal hypertrophy"," hyperplasia of the tongue"," hypertrophy of the tongue"," increased size of tongue"," large tongue"," lingual hyperplasia"," lingual hypertrophy"," tongue hypertrophy"]}