{"Name":"Ectopia lentis-chorioretinal dystrophy-myopia syndrome","DiseaseID__c":"GARD:0003999","id":3999,"encodedName":"ectopia-lentis-chorioretinal-dystrophy-myopia-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Ectopia lentis-chorioretinal dystrophy-myopia syndrome","Xref_IDs__c":"722437006; C2931115; C536124; MEDGEN:419715; MONDO:0015997; ORPHA:1884","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"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":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0015997","Disease_Description__c":"A rare, genetic, ophthalmic disorder characterized by the association of lens (ectopia and cataracts) and retinal (generalized tapetoretinal dystrophy and retinal detachment) anomalies, and variable myopia. Microcephaly and intellectual disability has been reported in some patients.","GARD_Name__c":"Ectopia lentis-chorioretinal dystrophy-myopia syndrome","GARD_Synonym__c":"ectopia lentis, chorioretinal dystrophy, myopia syndrome; noble-bass-sherman syndrome","Curated_Disease_Description_Source__c":"MONDO:0015997","Curated_Disease_Description__c":"A rare, genetic, ophthalmic disorder characterized by the association of lens (ectopia and cataracts) and retinal (generalized tapetoretinal dystrophy and retinal detachment) anomalies, and variable myopia. Microcephaly and intellectual disability has been reported in some patients.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:1884","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015997","ORPHANET_ID__c":"ORPHA:1884","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de ectopia de cristalino-distrofia corioretinana-miopía","Spanish_Description_Source__c":"ORPHA:1884","Spanish_Description__c":"Es un trastorno oftálmico, de origen genético y poco frecuente, caracterizado por la asociación de anomalías del cristalino (ectopía y cataratas) y retinianas (distrofia tapetorretiniana generalizada y desprendimiento de retina), así como miopía variable. En algunos pacientes se ha descrito microcefalia y discapacidad intelectual.","Spanish_Disease_Name__c":"síndrome de ectopia de cristalino-distrofia corioretinana-miopía","Spanish_GARD_Synonym__c":"síndrome de noble-bass-sherman","Category_Linearization__c":"ORPHA:97966","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":"A rare, genetic, ophthalmic disorder characterized by the association of lens (ectopia and cataracts) and retinal (generalized tapetoretinal dystrophy and retinal detachment) anomalies, and variable myopia. Microcephaly and intellectual disability has been reported in some patients.","Curated_Disease_Description_Source__c":"MONDO:0015997","GARD_Synonym__c":"ectopia lentis, chorioretinal dystrophy, myopia syndrome; noble-bass-sherman syndrome","Name":"Ectopia lentis-chorioretinal dystrophy-myopia 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":"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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:1884"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:1884"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2931115","Source__c":"C2931115","Xref__c":"C2931115"},{"URL__c":"https://www.orpha.net/en/disease/detail/1884","Source__c":"C2931115; MONDO:0015997; ORPHA:1884","Xref__c":"ORPHA:1884"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536124","Source__c":"MONDO:0015997","Xref__c":"C536124"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=419715","Source__c":"C2931115","Xref__c":"MEDGEN:419715"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=722437006","Source__c":"C2931115; MONDO:0015997","Xref__c":"722437006"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015997","Source__c":"GARD:0003999","Xref__c":"MONDO:0015997"}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Retinal","Anterior segment of Eye","Pediatrics"],"Account":["Retinal"]},"synonyms":["ectopia lentis, chorioretinal dystrophy, myopia syndrome"," noble-bass-sherman syndrome"]}