{"Name":"Congenital macroglossia","DiseaseID__c":"GARD:0016599","id":16599,"encodedName":"congenital-macroglossia","IsDeleted":false,"Disease_Name_Full__c":"Congenital macroglossia","Xref_IDs__c":"270516002; C0009677; C531735; MEDGEN:3588; MONDO:0007927; ORPHA:2430","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:2430","Disease_Description__c":"A rare developmental defect during embryogenesis characterized by muscular hypertrophy, adenoid hyperplasia, or vascular malformation that results in an enlarged, often protruding, tongue. Complications include difficulty in swallowing, breathing and mastication, drooling, dental and skeletal deformities, such as malocclusion, open bite, asymmetry in maxillary and mandibular arches. It may be isolated or associated with genetic syndromes.","GARD_Name__c":"Congenital macroglossia","GARD_Synonym__c":"congenital hypertrophy of tongue","Curated_Disease_Description_Source__c":"ORPHA:2430","Curated_Disease_Description__c":"A rare developmental defect during embryogenesis characterized by muscular hypertrophy, adenoid hyperplasia, or vascular malformation that results in an enlarged, often protruding, tongue. Complications include difficulty in swallowing, breathing and mastication, drooling, dental and skeletal deformities, such as malocclusion, open bite, asymmetry in maxillary and mandibular arches. It may be isolated or associated with genetic syndromes.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:2430","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007927","ORPHANET_ID__c":"ORPHA:2430","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Macroglosia congénita","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"macroglosia congénita","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":"A rare developmental defect during embryogenesis characterized by muscular hypertrophy, adenoid hyperplasia, or vascular malformation that results in an enlarged, often protruding, tongue. Complications include difficulty in swallowing, breathing and mastication, drooling, dental and skeletal deformities, such as malocclusion, open bite, asymmetry in maxillary and mandibular arches. It may be isolated or associated with genetic syndromes.","Curated_Disease_Description_Source__c":"ORPHA:2430","GARD_Synonym__c":"congenital hypertrophy of tongue","Name":"Congenital 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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2430"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=3588","Source__c":"C0009677","Xref__c":"MEDGEN:3588"},{"URL__c":"https://www.orpha.net/en/disease/detail/2430","Source__c":"C0009677; MONDO:0007927; ORPHA:2430","Xref__c":"ORPHA:2430"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=270516002","Source__c":"C0009677; MONDO:0007927","Xref__c":"270516002"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C531735","Source__c":"MONDO:0007927","Xref__c":"C531735"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0009677","Source__c":"C0009677","Xref__c":"C0009677"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007927","Source__c":"GARD:0016599","Xref__c":"MONDO:0007927"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2430","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Change in normal glycogen storage content.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0500030","HPO_Name__c":"Abnormal hepatic glycogen storage","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2430","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A benign peripheral nerve sheath tumor that generally appears as a soft, skin-colored papule or small subcutaneous nodule. Individuals with neurofibromatosis can have numerous neurofibromas.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001067","HPO_Synonym__c":"Neurofibromata; Neurofibromatosis","HPO_Name__c":"Neurofibroma","Feature_System__c":"Nervous System; Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2430","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased length and width of the tongue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000158","HPO_Synonym__c":"Abnormally large tongue; Hyperplasia of the tongue; Hypertrophy of the tongue; Increased size of tongue; Large tongue; Tongue hypertrophy","HPO_Name__c":"Macroglossia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2430","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Deficiency of thyroid hormone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000821","HPO_Synonym__c":"Low T4; Underactive thyroid","HPO_Name__c":"Hypothyroidism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Otolaryngology","Pediatrics"]},"synonyms":["congenital hypertrophy of tongue"]}