{"Name":"Oral submucous fibrosis","DiseaseID__c":"GARD:0007264","id":7264,"encodedName":"oral-submucous-fibrosis","IsDeleted":false,"Disease_Name_Full__c":"Oral submucous fibrosis","Xref_IDs__c":"32883009; C0029172; C34866; D009914; DOID:5773; K13.5; MEDGEN:45213; MONDO:0018166; ORPHA:357154","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":1,"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":4,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0018166","Disease_Description__c":"Oral submucous fibrosis (OSMF) is a chronic, progressive disease that alters the fibroelasticity of the oral submucosa, prevalent in India and Southeast Asia but rare elsewhere, and characterized by burning and pain in the oral cavity, loss of gustatory sensation, the presence of blanched fibrous bands and stiffening of the oral mucosa and oro-pharynx (leading to trismus and a progressive reduction in mouth opening) and an increased risk of developing oral squamous cell cancer (3-19%). It is usually associated with the chewing of the areca nut (an ingredient in betel quid) but the exact etiology is unknown and there is currently no effective treatment.","GARD_Name__c":"Oral submucous fibrosis","GARD_Synonym__c":"oral cavity submucous fibrosis; oral submucosal fibrosis; oral submucosal fibrosis, including of tongue; osmf","Curated_Disease_Description_Source__c":"MONDO:0018166","Curated_Disease_Description__c":"Oral submucous fibrosis (OSMF) is a chronic, progressive disease that alters the fibroelasticity of the oral submucosa, prevalent in India and Southeast Asia but rare elsewhere, and characterized by burning and pain in the oral cavity, loss of gustatory sensation, the presence of blanched fibrous bands and stiffening of the oral mucosa and oro-pharynx (leading to trismus and a progressive reduction in mouth opening) and an increased risk of developing oral squamous cell cancer (3-19%). It is usually associated with the chewing of the areca nut (an ingredient in betel quid) but the exact etiology is unknown and there is currently no effective treatment.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:357154","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018166","ORPHANET_ID__c":"ORPHA:357154","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Fibrosis submucosa oral","Spanish_Description_Source__c":"ORPHA:357154","Spanish_Description__c":"La fibrosis submucosa oral (OSMF) es una enfermedad progresiva crónica que altera la fibroelasticidad de la submucosa oral. Es prevalente en la India y el sudeste asiático pero poco frecuente en el resto del mundo, y se caracteriza por ardor y dolor en la cavidad oral, pérdida de la sensibilidad gustativa, presencia de bandas fibrosas blanqueadas y rigidez de la mucosa oral y orofaríngea (que conlleva trismo y la reducción progresiva de la apertura oral) y un incremento del riesgo de desarrollar un cáncer oral de células escamosas (3-19%). Suele estar asociada con la masticación de la nuez de areca pero la etiología exacta es desconocida y actualmente no hay un tratamiento efectivo.","Spanish_Disease_Name__c":"fibrosis submucosa oral","Spanish_GARD_Synonym__c":"osmf","Category_Linearization__c":"ORPHA:68329","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":"Oral submucous fibrosis (OSMF) is a chronic, progressive disease that alters the fibroelasticity of the oral submucosa, prevalent in India and Southeast Asia but rare elsewhere, and characterized by burning and pain in the oral cavity, loss of gustatory sensation, the presence of blanched fibrous bands and stiffening of the oral mucosa and oro-pharynx (leading to trismus and a progressive reduction in mouth opening) and an increased risk of developing oral squamous cell cancer (3-19%). It is usually associated with the chewing of the areca nut (an ingredient in betel quid) but the exact etiology is unknown and there is currently no effective treatment.","Curated_Disease_Description_Source__c":"MONDO:0018166","GARD_Synonym__c":"oral cavity submucous fibrosis; oral submucosal fibrosis; oral submucosal fibrosis, including of tongue; osmf","Name":"Oral submucous fibrosis","estimateUsa":""}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:357154"}],"External_Identifier_Disease__c":[{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/K13.5","Source__c":"MONDO:0018166","Xref__c":"K13.5"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A5773","Source__c":"MONDO:0018166","Xref__c":"DOID:5773"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0029172","Source__c":"C0029172","Xref__c":"C0029172"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C34866","Source__c":"MONDO:0018166","Xref__c":"C34866"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C009914","Source__c":"C0029172; MONDO:0018166","Xref__c":"D009914"},{"URL__c":"https://www.orpha.net/en/disease/detail/357154","Source__c":"C0029172; MONDO:0018166; ORPHA:357154","Xref__c":"ORPHA:357154"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=32883009","Source__c":"C0029172; MONDO:0018166","Xref__c":"32883009"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=45213","Source__c":"C0029172","Xref__c":"MEDGEN:45213"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018166","Source__c":"GARD:0007264","Xref__c":"MONDO:0018166"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:357154","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000163","HPO_Synonym__c":"Abnormality of the oral cavity","HPO_Name__c":"Abnormal oral cavity morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:357154","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A squamous cell carcinoma that originates in the oropharnyx.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012182","HPO_Name__c":"Oropharyngeal squamous cell carcinoma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:357154","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001371","HPO_Synonym__c":"Flexed joint that cannot be straightened; Flexion contractures; Flexion contractures of joints","HPO_Name__c":"Flexion contracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:357154","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000600","HPO_Name__c":"Abnormality of the pharynx","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:357154","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Limitation in the ability to open the mouth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000211","HPO_Synonym__c":"Lockjaw; Pain of muscles of mastication","HPO_Name__c":"Trismus","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:357154","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Inflammation of the lip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100825","HPO_Synonym__c":"Inflammation of the lips","HPO_Name__c":"Cheilitis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:357154","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000160","HPO_Synonym__c":"Microstomia; Narrow mouth; Small mouth; Small oral aperture","HPO_Name__c":"Narrow mouth","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Pediatrics"]},"synonyms":["oral cavity submucous fibrosis"," oral submucosal fibrosis"," oral submucosal fibrosis, including of tongue"," osmf"]}