{"Name":"Isolated congenital alacrima","DiseaseID__c":"GARD:0016799","id":16799,"encodedName":"isolated-congenital-alacrima","IsDeleted":false,"Disease_Name_Full__c":"Isolated congenital alacrima","Xref_IDs__c":"717262004; C4273963; MEDGEN:896261; MONDO:0019627; ORPHA:91416","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":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0019627","Disease_Description__c":"Congenital alacrima is characterised by deficient lacrimation (ranging from a complete absence of tears to hyposecretion of tears) that is present from birth.","GARD_Name__c":"Isolated congenital alacrima","GARD_Synonym__c":"nonsyndromic congenital alacrima","Curated_Disease_Description_Source__c":"ORPHA:91416","Curated_Disease_Description__c":"Isolated congenital alacrima is characterised by deficient lacrimation (ranging from a complete absence of tears to hyposecretion of tears) that is present from birth.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:91416","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019627","ORPHANET_ID__c":"ORPHA:91416","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Alacrima congénita aislada","Spanish_Description_Source__c":"ORPHA:91416","Spanish_Description__c":"La alácrima congénita se caracteriza por un lagrimeo deficiente (que va desde la ausencia total de lágrimas hasta la hiposecreción de lágrimas) que está presente desde el nacimiento.","Spanish_Disease_Name__c":"alacrima congénita aislada","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":"Isolated congenital alacrima is characterised by deficient lacrimation (ranging from a complete absence of tears to hyposecretion of tears) that is present from birth.","Curated_Disease_Description_Source__c":"ORPHA:91416","GARD_Synonym__c":"nonsyndromic congenital alacrima","Name":"Isolated congenital alacrima","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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:91416"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:91416"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=896261","Source__c":"C4273963","Xref__c":"MEDGEN:896261"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=717262004","Source__c":"C4273963; MONDO:0019627","Xref__c":"717262004"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4273963","Source__c":"C4273963","Xref__c":"C4273963"},{"URL__c":"https://www.orpha.net/en/disease/detail/91416","Source__c":"C4273963; MONDO:0019627; ORPHA:91416","Xref__c":"ORPHA:91416"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019627","Source__c":"GARD:0016799","Xref__c":"MONDO:0019627"}],"Inheritance__c":["Autosomal recessive","Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:91416","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence of tear secretion.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000522","HPO_Synonym__c":"Absence of tears in the eyes; Absent lacrimal fluids; Absent tear secretion","HPO_Name__c":"Alacrima","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91416","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"A disorder of esophageal motility characterized by the inability of the lower esophageal sphincter to relax during swallowing and by inadequate or lacking peristalsis in the lower half of the body of the esophagus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002571","HPO_Synonym__c":"Achalasia of the esophagus","HPO_Name__c":"Achalasia","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91416","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000508","HPO_Synonym__c":"Blepharoptosis; Drooping upper eyelid; Eyelid ptosis; Palpebral ptosis","HPO_Name__c":"Ptosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91416","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000613","HPO_Synonym__c":"Extreme sensitivity of the eyes to light; Light hypersensitivity; Photodysphoria","HPO_Name__c":"Photophobia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91416","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inflammation of the conjunctiva.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000509","HPO_Synonym__c":"Pink eye","HPO_Name__c":"Conjunctivitis","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91416","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An erosion or abrasion of the cornea's outermost layer of epithelial cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200020","HPO_Synonym__c":"Damage to outer layer of the cornea of the eye","HPO_Name__c":"Corneal erosion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91416","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:91416","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Double rows of eyelashes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009743","HPO_Synonym__c":"Distichiasis of eyelid eyelashes","HPO_Name__c":"Distichiasis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91416","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inflammation of the cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000491","HPO_Synonym__c":"Corneal inflammation","HPO_Name__c":"Keratitis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91416","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Congenital absence or closure of the opening of the lacrimal punctum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007820","HPO_Synonym__c":"Atretic lacrimal puncta; Atretic lacrimal punctum","HPO_Name__c":"Lacrimal punctal atresia","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Pediatrics"]},"synonyms":["nonsyndromic congenital alacrima"]}