{"Name":"X-linked cone-rod dystrophy 3","DiseaseID__c":"GARD:0010654","id":10654,"encodedName":"x-linked-cone-rod-dystrophy-3","IsDeleted":false,"Disease_Name_Full__c":"X-linked cone-rod dystrophy 3","Xref_IDs__c":"C1845407; C564507; DOID:0111007; MEDGEN:336932; MONDO:0010335; OMIM:300476","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":1,"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":5,"No_of_Age_at_Onset__c":0,"Description_Source__c":"OMIM:300476","Disease_Description__c":"Cone-rod dystrophy is a retinal disorder with predominantly cone involvement. Rod impairment may occur at the same time as the cone impairment or appear later. Patients with CORD usually have reduced visual acuity, photophobia, and color vision defects (summary by {3:Huang et al., 2013}).\\n\\nFor a discussion of genetic heterogeneity of X-linked cone-rod dystrophy, see {304020}.","GARD_Name__c":"X-linked cone-rod dystrophy 3","GARD_Synonym__c":"cone-rod dystrophy, x-linked, 3, x-linked recessive; cone-rod dystrophy, x-linked, type 3; cordx3; x-linked cone-rod dystrophy type 3","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Cone-rod dystrophy, x-linked, 3 is a disease that affects the retina, a part of the eye. This disease mainly affects the cones in the retina, which help us see colors and fine details. Sometimes, the rods in the retina, which help us see in low light, can also be affected. People with this disease often have trouble seeing clearly, are sensitive to bright lights, and have difficulty seeing colors. These symptoms can happen all at once or develop over time. This disease is caused by a change in the CACNA1F gene. It follows an x-linked pattern of inheritance.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:300476","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010335","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Cone-rod dystrophy, x-linked, 3 is a disease that affects the retina, a part of the eye. This disease mainly affects the cones in the retina, which help us see colors and fine details. Sometimes, the rods in the retina, which help us see in low light, can also be affected. People with this disease often have trouble seeing clearly, are sensitive to bright lights, and have difficulty seeing colors. These symptoms can happen all at once or develop over time. This disease is caused by a change in the CACNA1F gene. It follows an x-linked pattern of inheritance.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"cone-rod dystrophy, x-linked, 3, x-linked recessive; cone-rod dystrophy, x-linked, type 3; cordx3; x-linked cone-rod dystrophy type 3","Name":"X-linked cone-rod dystrophy 3","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Prevent Blindness America","Website__c":"https://preventblindness.org/"},{"Account_Name__c":"Macular Disease Society","Website__c":"https://www.macularsociety.org/"}],"GARD_Disease_Tag__c":[{"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/0010654","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1845407","Source__c":"C1845407","Xref__c":"C1845407"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111007","Source__c":"MONDO:0010335","Xref__c":"DOID:0111007"},{"URL__c":"https://www.omim.org/entry/300476","Source__c":"C1845407; MONDO:0010335","Xref__c":"OMIM:300476"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=336932","Source__c":"C1845407","Xref__c":"MEDGEN:336932"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564507","Source__c":"MONDO:0010335","Xref__c":"C564507"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010335","Source__c":"GARD:0010654","Xref__c":"MONDO:0010335"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CACNA1F","GHR_URL__c":"https://medlineplus.gov/genetics/gene/cacna1f","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:300476","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000639","HPO_Synonym__c":"Involuntary, rapid, rhythmic eye movements","HPO_Name__c":"Nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300476","HPO_Frequency__c":"Occasional (5-29%)","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:300476","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000543","HPO_Synonym__c":"Pale optic disc","HPO_Name__c":"Optic disc pallor","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300476","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":"OMIM:300476","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Separation of the inner layers of the retina (neural retina) from the pigment epithelium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000541","HPO_Synonym__c":"Detached retina; Retinal detachment","HPO_Name__c":"Retinal detachment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300476","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Absent reflectivity of the fovea, which normally is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030825","HPO_Synonym__c":"Foveal reflex absent; Loss of foveal reflex","HPO_Name__c":"Absent foveal reflex","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300476","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":"OMIM:300476","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000548","HPO_Synonym__c":"Cone rod dystrophy; Cone-rod retinal dystrophy","HPO_Name__c":"Cone/cone-rod dystrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300476","Feature__r":{"HPO_Description__c":"An abnormality of the combined rod-and-cone response on electroretinogram.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008323","HPO_Synonym__c":"Abnormal rod and cone electroretinogram","HPO_Name__c":"Abnormal light- and dark-adapted electroretinogram","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300476","Feature__r":{"HPO_Description__c":"An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000545","HPO_Synonym__c":"Close sighted; Near sighted; Near sightedness; Nearsightedness","HPO_Name__c":"Myopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300476","Feature__r":{"HPO_Description__c":"Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000505","HPO_Synonym__c":"Impaired vision; Loss of eyesight; Poor vision; Visual impairment","HPO_Name__c":"Visual impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300476","Feature__r":{"HPO_Description__c":"An anomaly in the ability to discriminate between or recognize colors.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000551","HPO_Synonym__c":"Abnormal color vision; Abnormality of color vision; Disturbed color vision","HPO_Name__c":"Color vision defect","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300476","Feature__r":{"HPO_Description__c":"An area of depressed vision located at the point of fixation and that interferes with central vision.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000603","HPO_Synonym__c":"Central blind spot; Central scotomata","HPO_Name__c":"Central scotoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300476","Feature__r":{"HPO_Description__c":"Any deviation from the normal, uniform distribution or appearance of pigment within the macular region of the retina.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008002","HPO_Synonym__c":"Abnormality of macular pigmentation","HPO_Name__c":"Abnormal macular pigmentation","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Account":["Retinal"],"Specialist":["Retinal"]},"synonyms":["cone-rod dystrophy, x-linked, 3, x-linked recessive"," cone-rod dystrophy, x-linked, type 3"," cordx3"," x-linked cone-rod dystrophy type 3"]}