{"Name":"X-linked cone dysfunction syndrome with myopia","DiseaseID__c":"GARD:0016782","id":16782,"encodedName":"x-linked-cone-dysfunction-syndrome-with-myopia","IsDeleted":false,"Disease_Name_Full__c":"X-linked cone dysfunction syndrome with myopia","Xref_IDs__c":"718718009; C3159311; C564092; MEDGEN:463611; MONDO:0010446; OMIM:300843; ORPHA:90001","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":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0010446","Disease_Description__c":"X-linked cone dysfunction syndrome with myopia is characterised by moderate to high myopia associated with astigmatism and deuteranopia. Less than 10 families have been described so far. Transmission is X-linked recessive and the locus has been mapped to Xq28.","GARD_Name__c":"X-linked cone dysfunction syndrome with myopia","GARD_Synonym__c":"bornholm eye disease; bornholm eye disease, x-linked recessive; high myopia with nonprogressive cone dysfunction","Curated_Disease_Description_Source__c":"ORPHA:90001","Curated_Disease_Description__c":"X-linked cone dysfunction syndrome with myopia is characterised by moderate to high myopia associated with astigmatism and deuteranopia. Transmission is X-linked recessive and the locus has been mapped to Xq28.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:90001","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010446","ORPHANET_ID__c":"ORPHA:90001","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de disfunción de los conos con miopía","Spanish_Description_Source__c":"ORPHA:90001","Spanish_Description__c":"Es un síndrome caracterizado por una miopía de moderada a alta asociada a astigmatismo y deuteranopía. Hasta la fecha, se ha descrito en menos de 10 familias. La transmisión es recesiva ligada al cromosoma X y el locus se ha asignado a Xq28.","Spanish_Disease_Name__c":"síndrome de disfunción de los conos con miopía","Spanish_GARD_Synonym__c":"enfermedad ocular de bornholm","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":"X-linked cone dysfunction syndrome with myopia is characterised by moderate to high myopia associated with astigmatism and deuteranopia. Transmission is X-linked recessive and the locus has been mapped to Xq28.","Curated_Disease_Description_Source__c":"ORPHA:90001","GARD_Synonym__c":"bornholm eye disease; bornholm eye disease, x-linked recessive; high myopia with nonprogressive cone dysfunction","Name":"X-linked cone dysfunction syndrome with myopia","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"BCM Families Foundation","Website__c":"https://www.blueconemonochromacy.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":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:90001"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564092","Source__c":"MONDO:0010446","Xref__c":"C564092"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=718718009","Source__c":"C3159311; MONDO:0010446","Xref__c":"718718009"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3159311","Source__c":"C3159311","Xref__c":"C3159311"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=463611","Source__c":"C3159311","Xref__c":"MEDGEN:463611"},{"URL__c":"https://www.orpha.net/en/disease/detail/90001","Source__c":"C3159311; MONDO:0010446; ORPHA:90001","Xref__c":"ORPHA:90001"},{"URL__c":"https://www.omim.org/entry/300843","Source__c":"C3159311; MONDO:0010446; ORPHA:90001","Xref__c":"OMIM:300843"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010446","Source__c":"GARD:0016782","Xref__c":"MONDO:0010446"}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:300843","Feature__r":{"HPO_Description__c":"A type of refraction error associated with abnormal curvatures on the anterior and/or posterior surface of the cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000483","HPO_Synonym__c":"Abnormal curving of the cornea or lens of the eye; Astigmatism","HPO_Name__c":"Astigmatism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300843","Feature__r":{"HPO_Description__c":"Blue and green cones only; no functional red cones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011522","HPO_Synonym__c":"Red-blind","HPO_Name__c":"Protanopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300843","Feature__r":{"HPO_Description__c":"Any deviation from the normal pigmentation of the retina.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007703","HPO_Synonym__c":"Abnormality of retinal pigment epithelium; Abnormality of retinal pigmentation; Abnormality of RPE; Retinal pigmentary anomaly","HPO_Name__c":"Abnormal retinal pigmentation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300843","Feature__r":{"HPO_Description__c":"Underdevelopment of the optic nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000609","HPO_Synonym__c":"Hypoplastic optic nerves; Underdeveloped optic nerves","HPO_Name__c":"Optic nerve hypoplasia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300843","Feature__r":{"HPO_Description__c":"A severe form of myopia with greater than -6.00 diopters.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011003","HPO_Synonym__c":"Severe myopia; Severe myopia (> -6.00 diopters); Severe near sightedness; Severely close sighted; Severely near sighted","HPO_Name__c":"High myopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300843","Feature__r":{"HPO_Description__c":"Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000646","HPO_Synonym__c":"Lazy eye; Wandering eye; Wandering eyes","HPO_Name__c":"Amblyopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300843","Feature__r":{"HPO_Description__c":"Decreased amplitude of eletrical response upon electroretinography.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000654","HPO_Synonym__c":"Decreased amplitudes on flash visual electroretinogram; Decreased electroretinogram; Decreased electroretinogram amplitude; Decreased electroretinogram response; Decreased ERG amplitude; Flattened or absent electroretinogram; Reduced electroretinogram; Reduced ERG; Reduced or abolished electroretinogram","HPO_Name__c":"Decreased light- and dark-adapted electroretinogram amplitude","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300843","Feature__r":{"HPO_Description__c":"Complete lack of the M photopigment, which is replaced with the L photopigment. Affected individuals tend to confuse red and green.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011521","HPO_Synonym__c":"Green-blind","HPO_Name__c":"Deuteranopia","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Retinal","Pediatrics"],"Account":["Retinal"]},"synonyms":["bornholm eye disease"," bornholm eye disease, x-linked recessive"," high myopia with nonprogressive cone dysfunction"]}