{"Name":"Coloboma of optic nerve","DiseaseID__c":"GARD:0001438","id":1438,"encodedName":"coloboma-of-optic-nerve","IsDeleted":false,"Disease_Name_Full__c":"Coloboma of optic nerve","Xref_IDs__c":"17541006; C0155299; C535970; DOID:11975; MEDGEN:57832; MONDO:0007354; OMIM:120430; ORPHA:98947","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":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":0,"Description_Source__c":"ORPHA:98947","Disease_Description__c":"Coloboma of optic disc is a rare, genetic, developmental defect of the eye characterized by a unilateral or bilateral, sharply demarcated, bowl-shaped, glistening white excavation on the optic disc (typically decentered inferiorly) which usually manifests with varying degrees of reduced visual acuity. It can occur isolated or may associate other ocular (e.g. retinal detachment, retinoschisis-like separation) or systemic anomalies (e.g. renal).","GARD_Name__c":"Coloboma of optic nerve","GARD_Synonym__c":"coloboma of optic disc; coloboma of optic nerve (disease); coloboma of optic papilla; congenital coloboma of optic disc; congenital coloboma of the optic nerve; congenital optic disc coloboma; optic disc coloboma; optic nerve coloboma; optic nerve head pits, bilateral congenital","Curated_Disease_Description_Source__c":"ORPHA:98947","Curated_Disease_Description__c":"Coloboma of optic disc is a rare, genetic, developmental defect of the eye characterized by a unilateral or bilateral, sharply demarcated, bowl-shaped, glistening white excavation on the optic disc (typically decentered inferiorly) which usually manifests with varying degrees of reduced visual acuity. It can occur isolated or may associate other ocular (e.g. retinal detachment, retinoschisis-like separation) or systemic anomalies (e.g. renal).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:98947","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0007354","ORPHANET_ID__c":"ORPHA:98947","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Coloboma del disco óptico","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"coloboma del disco óptico","Spanish_GARD_Synonym__c":"coloboma de las papilas ópticas","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":"Coloboma of optic disc is a rare, genetic, developmental defect of the eye characterized by a unilateral or bilateral, sharply demarcated, bowl-shaped, glistening white excavation on the optic disc (typically decentered inferiorly) which usually manifests with varying degrees of reduced visual acuity. It can occur isolated or may associate other ocular (e.g. retinal detachment, retinoschisis-like separation) or systemic anomalies (e.g. renal).","Curated_Disease_Description_Source__c":"ORPHA:98947","GARD_Synonym__c":"coloboma of optic disc; coloboma of optic nerve (disease); coloboma of optic papilla; congenital coloboma of optic disc; congenital coloboma of the optic nerve; congenital optic disc coloboma; optic disc coloboma; optic nerve coloboma; optic nerve head pits, bilateral congenital","Name":"Coloboma of optic nerve","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Prevent Blindness America","Website__c":"https://preventblindness.org/"},{"Account_Name__c":"The Vision of Children Foundation","Website__c":"https://www.visionofchildren.org/"}],"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":"Neuro-Ophthalmology","Tag_Category__c":"Specialist","curated_tag_name":"Neuro-ophthalmic diseases"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0001438","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=57832","Source__c":"C0155299","Xref__c":"MEDGEN:57832"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=17541006","Source__c":"MONDO:0007354","Xref__c":"17541006"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A11975","Source__c":"MONDO:0007354","Xref__c":"DOID:11975"},{"URL__c":"https://www.orpha.net/en/disease/detail/98947","Source__c":"C0155299; MONDO:0007354; ORPHA:98947","Xref__c":"ORPHA:98947"},{"URL__c":"https://www.omim.org/entry/120430","Source__c":"C0155299; MONDO:0007354","Xref__c":"OMIM:120430"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0155299","Source__c":"C0155299","Xref__c":"C0155299"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535970","Source__c":"MONDO:0007354","Xref__c":"C535970"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0000588","Source__c":"C0155299","Xref__c":"HP:0000588"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=44295002","Source__c":"C0155299","Xref__c":"44295002"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007354","Source__c":"GARD:0001438","Xref__c":"MONDO:0007354"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PAX6","GHR_URL__c":"https://medlineplus.gov/genetics/gene/pax6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:120430","Feature__r":{"HPO_Description__c":"A cleft of the optic nerve that extends inferiorly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000588","HPO_Synonym__c":"Coloboma of optic nerve; Optic disc coloboma; Optic nerve coloboma","HPO_Name__c":"Optic disc coloboma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:120430","Feature__r":{"HPO_Description__c":"Separation of the inner layers of the retina (neural retina) from the pigment epithelium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000541","HPO_Synonym__c":"Detached retina; Retinal detachment","HPO_Name__c":"Retinal detachment","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Neuro-Ophthalmology"]},"synonyms":["coloboma of optic disc"," coloboma of optic nerve (disease)"," coloboma of optic papilla"," congenital coloboma of optic disc"," congenital coloboma of the optic nerve"," congenital optic disc coloboma"," optic disc coloboma"," optic nerve coloboma"," optic nerve head pits, bilateral congenital"]}