{"Name":"Coloboma of macula","DiseaseID__c":"GARD:0001436","id":1436,"encodedName":"coloboma-of-macula","IsDeleted":false,"Disease_Name_Full__c":"Coloboma of macula","Xref_IDs__c":"C1852767; MEDGEN:342305; MONDO:0007351; OMIM:120300; ORPHA:98945","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":"MONDO:0007351","Disease_Description__c":"Coloboma of macula is a rare, non-syndromic developmental defect of the eye characterized by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders.","GARD_Name__c":"Coloboma of macula","GARD_Synonym__c":"agenesis of macula; coloboma of the macula; congenital coloboma of macula lutea; hereditary macular coloboma (subtype); macular coloboma; macular pseudocoloboma","Curated_Disease_Description_Source__c":"MONDO:0007351","Curated_Disease_Description__c":"Coloboma of macula is a rare, non-syndromic developmental defect of the eye characterized by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:98945","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007351","ORPHANET_ID__c":"ORPHA:98945","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Coloboma macular","Spanish_Description_Source__c":"ORPHA:98945","Spanish_Description__c":"El coloboma macular es un defecto no-sindrómico del desarrollo del ojo caracterizado por lesiones atróficas bien circunscritas, ovales o redondeadas, generalmente unilaterales, de tamaño variable que presentan una retina rudimentaria o ausente, coroides y esclerótica localizadas en la mácula que conducen a una disminución de la visión y, en ocasiones, otros síntomas (tales como el estrabismo). Por lo general, se presenta de forma aislada, pero también puede estar asociado con el síndrome de Down, trastornos esqueléticos o renales.","Spanish_Disease_Name__c":"coloboma macular","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":"Coloboma of macula is a rare, non-syndromic developmental defect of the eye characterized by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders.","Curated_Disease_Description_Source__c":"MONDO:0007351","GARD_Synonym__c":"agenesis of macula; coloboma of the macula; congenital coloboma of macula lutea; hereditary macular coloboma (subtype); macular coloboma; macular pseudocoloboma","Name":"Coloboma of macula","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Prevent Blindness America","Website__c":"https://preventblindness.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":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0001436","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1852767","Source__c":"C1852767","Xref__c":"C1852767"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=342305","Source__c":"C1852767","Xref__c":"MEDGEN:342305"},{"URL__c":"https://www.omim.org/entry/120300","Source__c":"C1852767; MONDO:0007351","Xref__c":"OMIM:120300"},{"URL__c":"https://www.orpha.net/en/disease/detail/98945","Source__c":"C1852767; MONDO:0007351; ORPHA:98945","Xref__c":"ORPHA:98945"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0001116","Source__c":"C1852767","Xref__c":"HP:0001116"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007351","Source__c":"GARD:0001436","Xref__c":"MONDO:0007351"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=737579002","Source__c":"C1852767","Xref__c":"737579002"}],"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},{"GeneSymbol__c":"ABCB6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"FZD5","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SALL2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:120300","Feature__r":{"HPO_Description__c":"A so-called macular coloboma is characterized by a sharply defined, usually excavated, area without neuroretina and RPE tissues in the central area of the fundus. This lesion is not related to classical colobomas associated with optic fissure closure defects.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001116","HPO_Synonym__c":"Coloboma of the macula; Macular coloboma","HPO_Name__c":"Macular pseudocoloboma","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Retinal"],"Account":["Retinal"]},"synonyms":["agenesis of macula"," coloboma of the macula"," congenital coloboma of macula lutea"," hereditary macular coloboma (subtype)"," macular coloboma"," macular pseudocoloboma"]}