{"Name":"Blue color blindness","DiseaseID__c":"GARD:0016768","id":16768,"encodedName":"blue-color-blindness","IsDeleted":false,"Disease_Name_Full__c":"Blue color blindness","Xref_IDs__c":"51886007; C0155017; DOID:11661; MEDGEN:57827; MONDO:0008610; OMIM:190900; ORPHA:88629","USA_Estimate__c":"50,000","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":"80,000 to 800,000","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":2,"Description_Source__c":"MONDO:0008610","Disease_Description__c":"A rare form of colour blindness characterized by a selective deficiency of blue vision.","GARD_Name__c":"Blue color blindness","GARD_Synonym__c":"blue colorblindness; blue colour blindness; blue yellow color blindness; blue yellow colour blindness; blue-yellow dyschromatopsia; blue/yellow color vision defect; blue/yellow colour vision defect; colorblindness, tritan; colorblindness, tritanopic; congenital tritanopia; dyschromatopsia, blue-yellow; tritan color blindness; tritan colour blindness; tritan defect; tritanomaly; tritanopia","Curated_Disease_Description_Source__c":"ORPHA:88629","Curated_Disease_Description__c":"Tritanopia is an extremely rare form of color blindness characterized by a selective deficiency of blue vision.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:88629","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008610","ORPHANET_ID__c":"ORPHA:88629","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Tritanopía","Spanish_Description_Source__c":"ORPHA:88629","Spanish_Description__c":"Es una forma extremadamente infrecuente de daltonismo caracterizada por una deficiencia selectiva de la visión del color azul.","Spanish_Disease_Name__c":"tritanopía","Spanish_GARD_Synonym__c":"ceguera al color azul; tritanopía congénita","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":"Tritanopia is an extremely rare form of color blindness characterized by a selective deficiency of blue vision.","Curated_Disease_Description_Source__c":"ORPHA:88629","GARD_Synonym__c":"blue colorblindness; blue colour blindness; blue yellow color blindness; blue yellow colour blindness; blue-yellow dyschromatopsia; blue/yellow color vision defect; blue/yellow colour vision defect; colorblindness, tritan; colorblindness, tritanopic; congenital tritanopia; dyschromatopsia, blue-yellow; tritan color blindness; tritan colour blindness; tritan defect; tritanomaly; tritanopia","Name":"Blue color blindness","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"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":"Neuro-Ophthalmology","Tag_Category__c":"Specialist","curated_tag_name":"Neuro-ophthalmic diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:88629"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:88629"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0155017","Source__c":"C0155017","Xref__c":"C0155017"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=51886007","Source__c":"C0155017; MONDO:0008610","Xref__c":"51886007"},{"URL__c":"https://www.orpha.net/en/disease/detail/88629","Source__c":"C0155017; MONDO:0008610; ORPHA:88629","Xref__c":"ORPHA:88629"},{"URL__c":"https://www.omim.org/entry/190900","Source__c":"C0155017; MONDO:0008610; ORPHA:88629","Xref__c":"OMIM:190900"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A11661","Source__c":"MONDO:0008610","Xref__c":"DOID:11661"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=57827","Source__c":"C0155017","Xref__c":"MEDGEN:57827"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008610","Source__c":"GARD:0016768","Xref__c":"MONDO:0008610"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0000552","Source__c":"C0155017","Xref__c":"HP:0000552"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=85049009","Source__c":"C0155017","Xref__c":"85049009"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"OPN1SW","GHR_URL__c":"https://medlineplus.gov/genetics/gene/opn1sw","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:88629","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030584","HPO_Name__c":"Color vision test abnormality","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:88629","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007663","HPO_Synonym__c":"Decreased central vision; Decreased clarity of vision; Decreased visual acuity; Poor visual acuity","HPO_Name__c":"Reduced visual acuity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:88629","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012043","HPO_Name__c":"Pendular nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:88629","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000613","HPO_Synonym__c":"Extreme sensitivity of the eyes to light; Light hypersensitivity; Photodysphoria","HPO_Name__c":"Photophobia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:88629","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Difficulty distinguishing between yellow and blue, possible related to dysfunction of the S photopigment.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000552","HPO_Synonym__c":"Blue yellow color blindness; Blue-yellow dyschromatopsia; Dyschromatopsia, blue-yellow","HPO_Name__c":"Tritanomaly","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:88629","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A structural abnormality of the retina.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000479","HPO_Synonym__c":"Abnormal retina; Abnormality of the retina; Anomaly of the retina; Retina issue","HPO_Name__c":"Abnormal retinal morphology","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Neuro-Ophthalmology","Pediatrics"]},"synonyms":["blue colorblindness"," blue colour blindness"," blue yellow color blindness"," blue yellow colour blindness"," blue-yellow dyschromatopsia"," blue/yellow color vision defect"," blue/yellow colour vision defect"," colorblindness, tritan"," colorblindness, tritanopic"," congenital tritanopia"," dyschromatopsia, blue-yellow"," tritan color blindness"," tritan colour blindness"," tritan defect"," tritanomaly"," tritanopia"]}