{"Name":"Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome","DiseaseID__c":"GARD:0010300","id":10300,"encodedName":"microtia-eye-coloboma-imperforation-of-the-nasolacrimal-duct-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome","Xref_IDs__c":"C2678482; C567512; MEDGEN:394835; MONDO:0012739; OMIM:611863; ORPHA:139450","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","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":0,"Description_Source__c":"MONDO:0012739","Disease_Description__c":"This syndrome is characterised by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct.","GARD_Name__c":"Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome","GARD_Synonym__c":"balikova-vermeesch syndrome; microtia with nasolacrimal duct imperforation and eye coloboma","Curated_Disease_Description_Source__c":"MONDO:0012739","Curated_Disease_Description__c":"This syndrome is characterised by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:139450","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012739","ORPHANET_ID__c":"ORPHA:139450","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de microtia-coloboma del ojo-imperforación del conducto nasolagrimal","Spanish_Description_Source__c":"ORPHA:139450","Spanish_Description__c":"Es un síndrome caracterizado por la asociación de microtia, coloboma ocular e imperforación del conducto nasolagrimal.","Spanish_Disease_Name__c":"síndrome de microtia-coloboma del ojo-imperforación del conducto nasolagrimal","Spanish_GARD_Synonym__c":"síndrome de balikova-vermeesch","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":"This syndrome is characterised by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct.","Curated_Disease_Description_Source__c":"MONDO:0012739","GARD_Synonym__c":"balikova-vermeesch syndrome; microtia with nasolacrimal duct imperforation and eye coloboma","Name":"Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"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":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"},{"Tag_Name__c":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"No data available","Provided_By__c":"ORPHA:139450"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2678482","Source__c":"C2678482","Xref__c":"C2678482"},{"URL__c":"https://www.orpha.net/en/disease/detail/139450","Source__c":"C2678482; MONDO:0012739","Xref__c":"ORPHA:139450"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567512","Source__c":"MONDO:0012739","Xref__c":"C567512"},{"URL__c":"https://www.omim.org/entry/611863","Source__c":"C2678482; MONDO:0012739; ORPHA:139450","Xref__c":"OMIM:611863"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=394835","Source__c":"C2678482","Xref__c":"MEDGEN:394835"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012739","Source__c":"GARD:0010300","Xref__c":"MONDO:0012739"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:139450","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A coloboma of the iris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000612","HPO_Synonym__c":"Cat eye; Coloboma of iris; Coloboma of the iris; Keyhole iris","HPO_Name__c":"Iris coloboma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:139450","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the external ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008551","HPO_Synonym__c":"Bilateral microtia; Hypoplasia of the external ear; Hypoplastic ears; Hypoplastic pinna; Small ears; Small pinnae; Underdeveloped ears","HPO_Name__c":"Microtia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:139450","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A developmental disorder of the lacrimal drainage system that most often affects the lacrimal ostium and resulting in non-opening of the nasolacrimal duct. It usually results from a non-canalization of the nasolacrimal duct.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000564","HPO_Synonym__c":"Imperforate nasolacrimal ducts; Nasolacrimal duct atresia; Unopened tear duct","HPO_Name__c":"Lacrimal duct atresia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:139450","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Retinal","Anterior segment of Eye"],"Account":["Retinal"]},"synonyms":["balikova-vermeesch syndrome"," microtia with nasolacrimal duct imperforation and eye coloboma"]}