{"Name":"Congenital absence of salivary gland","DiseaseID__c":"GARD:0016759","id":16759,"encodedName":"congenital-absence-of-salivary-gland","IsDeleted":false,"Disease_Name_Full__c":"Congenital absence of salivary gland","Xref_IDs__c":"22589009; 715656004; C0158667; DOID:0111549; MEDGEN:57641; MONDO:0008397; OMIM:180920; ORPHA:86815","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":0,"Description_Source__c":"MONDO:0008397","Disease_Description__c":"A rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation.","GARD_Name__c":"Congenital absence of salivary gland","GARD_Synonym__c":"alsg; aplasia of lacrimal and salivary gland; aplasia of lacrimal and salivary glands; congenital absence of lacrimal puncta and salivary glands; congenital aplasia of lacrimal gland co-occurrent with congenital aplasia of salivary gland; salivary glands, absence of","Curated_Disease_Description_Source__c":"MONDO:0008397","Curated_Disease_Description__c":"A rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:86815","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008397","ORPHANET_ID__c":"ORPHA:86815","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Aplasia de glándulas lagrimales y salivares","Spanish_Description_Source__c":"ORPHA:86815","Spanish_Description__c":"Es un trastorno autosómico dominante poco frecuente caracterizado por aplasia, atresia o hipoplasia de las glándulas lagrimales y salivares, dando lugar a una serie de características variables desde la infancia como, por ejemplo, infecciones oculares recurrentes, irritación ocular, epífora, xerostomía, caries, erosión dental e inflamaciones orales.","Spanish_Disease_Name__c":"aplasia de glándulas lagrimales y salivares","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:97966","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 autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation.","Curated_Disease_Description_Source__c":"MONDO:0008397","GARD_Synonym__c":"alsg; aplasia of lacrimal and salivary gland; aplasia of lacrimal and salivary glands; congenital absence of lacrimal puncta and salivary glands; congenital aplasia of lacrimal gland co-occurrent with congenital aplasia of salivary gland; salivary glands, absence of","Name":"Congenital absence of salivary gland","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":"Ophthalmology","Tag_Category__c":"Specialist"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/180920","Source__c":"C0158667; MONDO:0008397; ORPHA:86815","Xref__c":"OMIM:180920"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0158667","Source__c":"C0158667","Xref__c":"C0158667"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111549","Source__c":"MONDO:0008397","Xref__c":"DOID:0111549"},{"URL__c":"https://www.orpha.net/en/disease/detail/86815","Source__c":"C0158667; MONDO:0008397; ORPHA:86815","Xref__c":"ORPHA:86815"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=57641","Source__c":"C0158667","Xref__c":"MEDGEN:57641"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715656004","Source__c":"C0158667; MONDO:0008397","Xref__c":"715656004"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=22589009","Source__c":"C0158667","Xref__c":"22589009"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008397","Source__c":"GARD:0016759","Xref__c":"MONDO:0008397"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"FGF10","GHR_URL__c":"https://medlineplus.gov/genetics/gene/fgf10","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:180920","Feature__r":{"HPO_Description__c":"No identifiable superior and/or inferior lacrimal punctum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001092","HPO_Synonym__c":"Absent lacrimal gland puncta; Absent lacrimal openings; Absent lacrimal puncta; Aplasia of lacrimal puncta; Lacrimal puncta aplasia; Lacrimal punctum, absence","HPO_Name__c":"Absent lacrimal punctum","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:180920","Feature__r":{"HPO_Description__c":"Underdevelopment of the lacrimal gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007732","HPO_Synonym__c":"Hypoplastic lacrimal gland; Underdeveloped tear gland","HPO_Name__c":"Lacrimal gland hypoplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:180920","Feature__r":{"HPO_Description__c":"Dryness of the mouth due to salivary gland dysfunction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000217","HPO_Synonym__c":"Dry mouth; Dry mouth syndrome; Reduced salivation","HPO_Name__c":"Xerostomia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:180920","Feature__r":{"HPO_Description__c":"Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000670","HPO_Synonym__c":"Caries; Cariosity of teeth; Dental caries; Dental cavities; Early dental caries; Frequent caries; Tooth cavities; Tooth decay","HPO_Name__c":"Carious teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:180920","Feature__r":{"HPO_Description__c":"A congenital defect of development characterized by absence of the lacrimal gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007656","HPO_Synonym__c":"Absent tear gland","HPO_Name__c":"Lacrimal gland aplasia","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology"]},"synonyms":["alsg"," aplasia of lacrimal and salivary gland"," aplasia of lacrimal and salivary glands"," congenital absence of lacrimal puncta and salivary glands"," congenital aplasia of lacrimal gland co-occurrent with congenital aplasia of salivary gland"," salivary glands, absence of"]}