{"Name":"Oguchi disease","DiseaseID__c":"GARD:0010118","id":10118,"encodedName":"oguchi-disease","IsDeleted":false,"Disease_Name_Full__c":"Oguchi disease","Xref_IDs__c":"C1306122; C537743; MEDGEN:224927; MONDO:0019152; ORPHA:75382","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0019152","Disease_Description__c":"Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness (see this term) and the Mizuo-Nakamura phenomenon.","GARD_Name__c":"Oguchi disease","GARD_Synonym__c":"congenital stationary night blindness, oguchi type; oguchi syndrome; oguchi's disease","Curated_Disease_Description_Source__c":"MONDO:0019152","Curated_Disease_Description__c":"Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness (see this term) and the Mizuo-Nakamura phenomenon.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:75382","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019152","ORPHANET_ID__c":"ORPHA:75382","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de oguchi","Spanish_Description_Source__c":"ORPHA:75382","Spanish_Description__c":"La enfermedad de Oguchi es un trastorno retiniano autosómico recesivo caracterizado por una ceguera nocturna estable congénita (CSNB; consulte este término) y el fenómeno Mizuo-Nakamura.","Spanish_Disease_Name__c":"enfermedad de oguchi","Spanish_GARD_Synonym__c":"ceguera nocturna estacionaria congénita tipo oguchi; síndrome de oguchi","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":"Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness (see this term) and the Mizuo-Nakamura phenomenon.","Curated_Disease_Description_Source__c":"MONDO:0019152","GARD_Synonym__c":"congenital stationary night blindness, oguchi type; oguchi syndrome; oguchi's disease","Name":"Oguchi disease","estimateUsa":""}],"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":"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":"Infancy","Provided_By__c":"ORPHA:75382"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:75382"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1306122"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010118","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=224927","Source__c":"C1306122","Xref__c":"MEDGEN:224927"},{"URL__c":"https://www.orpha.net/en/disease/detail/75382","Source__c":"C1306122; MONDO:0019152; ORPHA:75382","Xref__c":"ORPHA:75382"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1306122","Source__c":"C1306122","Xref__c":"C1306122"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537743","Source__c":"MONDO:0019152","Xref__c":"C537743"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019152","Source__c":"GARD:0010118","Xref__c":"MONDO:0019152"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=193687000","Source__c":"C1306122","Xref__c":"193687000"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GRK1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SAG","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:75382","HPO_Frequency__c":"Uncommon (<1-4%)","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":"ORPHA:75382","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:75382","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A usually nonprogressive (i.e., stationary) form of night blindness with early (presumed to be congenital) onset.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007642","HPO_Synonym__c":"Congenital night blindness; Congenital stationary night blindness; Night blindness since birth","HPO_Name__c":"Early-onset non-progressive night blindness","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75382","HPO_Frequency__c":"Uncommon (<1-4%)","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":"ORPHA:75382","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A dark-adapted bright flash electroretinogram in which the b-wave that is of markedly lower amplitude than the associated a-wave.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007984","HPO_Synonym__c":"Electronegative ERG; Electroretinogram: reduced b-wave amplitude; Reduced amplitude of dark-adapted bright flash electroretinogram b-wave; Reduced electroretinogram rod b-wave; Reduced ERG amplitude of b-wave","HPO_Name__c":"ERG: Reduced dark-adapted b-wave amplitude","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75382","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000539","HPO_Name__c":"Abnormality of refraction","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75382","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001123","HPO_Synonym__c":"Partial loss of field of vision; Visual field defects","HPO_Name__c":"Visual field defect","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75382","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000486","HPO_Synonym__c":"Cross-eyed; Squint; Squint eyes","HPO_Name__c":"Strabismus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75382","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000651","HPO_Synonym__c":"Double vision","HPO_Name__c":"Diplopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75382","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"A form of colorblindness in which only two of the three fundamental colors can be distinguished due to a lack of one of the retinal cone pigments.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007641","HPO_Synonym__c":"Color blindness","HPO_Name__c":"Dyschromatopsia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75382","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000510","HPO_Synonym__c":"Retinitis pigmentosa; Rod cone dystrophy","HPO_Name__c":"Rod-cone dystrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75382","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Change in the color of the fundus from red in the dark-adapted state to golden immediately or shortly after the onset of the light. The color of the fundus reflex in the light adapted state has also been described as golden-yellow, gray-white, and yellow-white. This reflex can appear either homogeneous or in streaks in the fundus. The retinal vessels appear to be protruding in contrast to the radiant background. Dark adaptation leads to disappearance of the unusual fundus coloration [Digital Journal of Ophthalmology 2008; Volume 14, Number 14].","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030824","HPO_Synonym__c":"Mizuo-Nakamura phenomenon","HPO_Name__c":"Mizuo phenomenon","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75382","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000608","HPO_Name__c":"Macular degeneration","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Retinal","Neuro-Ophthalmology","Pediatrics"],"Account":["Retinal"]},"synonyms":["congenital stationary night blindness, oguchi type"," oguchi syndrome"," oguchi's disease"]}