{"Name":"Coloboma of choroid and retina","DiseaseID__c":"GARD:0016875","id":16875,"encodedName":"coloboma-of-choroid-and-retina","IsDeleted":false,"Disease_Name_Full__c":"Coloboma of choroid and retina","Xref_IDs__c":"39302008; 768932000; C4708599; MEDGEN:1643994; MONDO:0020354; ORPHA:98942","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":1,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0020354","Disease_Description__c":"Coloboma of choroid and retina is a rare, genetic developmental defect during embryogenesis characterized by the partial absence of retinal pigment epithelium and choroid, most frequently located in the inferonasal quadrant. Patients usually present reduced vision and have an increased risk for retinal detachment. Other ocular anomalies (e.g. coloboma of iris, microcornea, nystagmus, strabismus, microphthalmos) are usually associated, however it may also be isolated.","GARD_Name__c":"Coloboma of choroid and retina","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"MONDO:0020354","Curated_Disease_Description__c":"Coloboma of choroid and retina is a rare, genetic developmental defect during embryogenesis characterized by the partial absence of retinal pigment epithelium and choroid, most frequently located in the inferonasal quadrant. Patients usually present reduced vision and have an increased risk for retinal detachment. Other ocular anomalies (e.g. coloboma of iris, microcornea, nystagmus, strabismus, microphthalmos) are usually associated, however it may also be isolated.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:98942","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0020354","ORPHANET_ID__c":"ORPHA:98942","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Coloboma corio-retiniano","Spanish_Description_Source__c":"ORPHA:98942","Spanish_Description__c":"El coloboma corio-retiniano es un defecto del desarrollo, genético y poco frecuente durante la embriogénesis que se caracteriza por la ausencia parcial de epitelio pigmentario de la retina y coroides, localizado con mayor frecuencia en el cuadrante inferonasal. Por lo general, los afectados presentan visión reducida y tienen un mayor riesgo de desprendimiento de retina. Generalmente están asociadas otras anomalías oculares (p. ej., coloboma del iris, microcórnea, nistagmo, estrabismo, microftalmia), aunque también puede presentarse de forma aislada.","Spanish_Disease_Name__c":"coloboma corio-retiniano","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 choroid and retina is a rare, genetic developmental defect during embryogenesis characterized by the partial absence of retinal pigment epithelium and choroid, most frequently located in the inferonasal quadrant. Patients usually present reduced vision and have an increased risk for retinal detachment. Other ocular anomalies (e.g. coloboma of iris, microcornea, nystagmus, strabismus, microphthalmos) are usually associated, however it may also be isolated.","Curated_Disease_Description_Source__c":"MONDO:0020354","Name":"Coloboma of choroid and retina","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":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1643994","Source__c":"C4708599","Xref__c":"MEDGEN:1643994"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4708599","Source__c":"C4708599","Xref__c":"C4708599"},{"URL__c":"https://www.orpha.net/en/disease/detail/98942","Source__c":"C4708599; MONDO:0020354; ORPHA:98942","Xref__c":"ORPHA:98942"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=39302008","Source__c":"MONDO:0020354","Xref__c":"39302008"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=768932000","Source__c":"C4708599","Xref__c":"768932000"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0020354","Source__c":"GARD:0016875","Xref__c":"MONDO:0020354"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"FZD5","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":"SALL2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"PAX6","GHR_URL__c":"https://medlineplus.gov/genetics/gene/pax6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ACTG1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/actg1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Retinal"],"Account":["Retinal"]},"synonyms":[""]}