{"Name":"Cheilitis glandularis","DiseaseID__c":"GARD:0000412","id":412,"encodedName":"cheilitis-glandularis","IsDeleted":false,"Disease_Name_Full__c":"Cheilitis glandularis","Xref_IDs__c":"26374003; C0267034; C535921; MEDGEN:75626; MONDO:0007313; OMIM:118330; ORPHA:1221","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":5,"No_of_Age_at_Onset__c":4,"Description_Source__c":"MONDO:0007313","Disease_Description__c":"A rare skin disease of unknown origin characterized by macrocheilia and secretions of thick saliva from swollen labial minor salivary glands.","GARD_Name__c":"Cheilitis glandularis","GARD_Synonym__c":"glandular cheilitis; simple cheilitis glandularis","Curated_Disease_Description_Source__c":"GARD:0000412","Curated_Disease_Description__c":"Cheilitis glandularis is a rare inflammatory disorder of the lip. It is characterized by swelling of the lip with hyperplasia of the salivary glands; secretion of a clear, thick mucus; and variable inflammation. Chronic exposure of the mucous membrane on the lower lip to the environment leads to erosion, ulceration, crusting, and, occasionally, infection. In Caucasians, it is associated with a relatively high incidence of squamous cell carcinoma of the lip. Although there may be a genetic susceptibility, no definitive cause has been established.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:1221","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007313","ORPHANET_ID__c":"ORPHA:1221","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Queilitis glandular","Spanish_Description_Source__c":"ORPHA:1221","Spanish_Description__c":"Es una enfermedad poco frecuente de la piel de origen desconocido caracterizada por macroqueilia y secreciones de saliva espesa por las glándulas salivales menores inflamadas.","Spanish_Disease_Name__c":"queilitis glandular","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:89826","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":"Cheilitis glandularis is a rare inflammatory disorder of the lip. It is characterized by swelling of the lip with hyperplasia of the salivary glands; secretion of a clear, thick mucus; and variable inflammation. Chronic exposure of the mucous membrane on the lower lip to the environment leads to erosion, ulceration, crusting, and, occasionally, infection. In Caucasians, it is associated with a relatively high incidence of squamous cell carcinoma of the lip. Although there may be a genetic susceptibility, no definitive cause has been established.","Curated_Disease_Description_Source__c":"GARD:0000412","GARD_Synonym__c":"glandular cheilitis; simple cheilitis glandularis","Name":"Cheilitis glandularis","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"American Skin Association","Website__c":"https://www.americanskin.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:1221"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:1221"},{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:1221"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:1221"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/118330","Source__c":"C0267034; MONDO:0007313; ORPHA:1221","Xref__c":"OMIM:118330"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535921","Source__c":"MONDO:0007313","Xref__c":"C535921"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=75626","Source__c":"C0267034","Xref__c":"MEDGEN:75626"},{"URL__c":"https://www.orpha.net/en/disease/detail/1221","Source__c":"C0267034; MONDO:0007313; ORPHA:1221","Xref__c":"ORPHA:1221"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0267034","Source__c":"C0267034","Xref__c":"C0267034"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=26374003","Source__c":"C0267034; MONDO:0007313","Xref__c":"26374003"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007313","Source__c":"GARD:0000412","Xref__c":"MONDO:0007313"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1221","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any abnormality of the salivary glands, the exocrine glands that produce saliva.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010286","HPO_Synonym__c":"Abnormality of the salivary glands","HPO_Name__c":"Abnormal salivary gland morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1221","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A functional abnormality of the immune system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010978","HPO_Name__c":"Abnormality of immune system physiology","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1221","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002664","HPO_Synonym__c":"Neoplasia; Oncological abnormality; Tumor; Tumour","HPO_Name__c":"Neoplasm","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1221","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of squamous cell carcinoma of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002860","HPO_Name__c":"Squamous cell carcinoma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1221","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000179","HPO_Synonym__c":"Full lower lip vermilion; Increased height of lower lip vermilion; Increased volume of lower lip; Increased volume of lower lip vermilion; Plump lower lip; Prominent lower lip; Thick vermilion border of lower lip","HPO_Name__c":"Thick lower lip vermilion","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Account":["Dermatology"],"Disease Category":["Dermatology"],"Specialist":["Dermatology","Pediatrics"]},"synonyms":["glandular cheilitis"," simple cheilitis glandularis"]}