{"Name":"Oculocutaneous albinism type 6","DiseaseID__c":"GARD:0017599","id":17599,"encodedName":"oculocutaneous-albinism-type-6","IsDeleted":false,"Disease_Name_Full__c":"Oculocutaneous albinism type 6","Xref_IDs__c":"722058005; C3805375; DOID:0080614; MEDGEN:811705; MONDO:0018264; OMIM:113750; ORPHA:370097","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":2,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0018264","Disease_Description__c":"A form of oculocutaneous albinism characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity.","GARD_Name__c":"Oculocutaneous albinism type 6","GARD_Synonym__c":"albinism, oculocutaneous, type vi; oca6","Curated_Disease_Description_Source__c":"MONDO:0018264","Curated_Disease_Description__c":"A form of oculocutaneous albinism characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity.","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:370097","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018264","ORPHANET_ID__c":"ORPHA:370097","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Albinismo oculocutáneo tipo 6","Spanish_Description_Source__c":"ORPHA:370097","Spanish_Description__c":"Es una forma de albinismo oculocutáneo caracterizado por cabello claro al nacimiento que se oscurece con la edad, piel clara, iris transparentes, fotofobia, nistagmo, hipoplasia foveal y disminución de la agudeza visual.","Spanish_Disease_Name__c":"albinismo oculocutáneo tipo 6","Spanish_GARD_Synonym__c":"oca6","Category_Linearization__c":"ORPHA:89826","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 form of oculocutaneous albinism characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity.","Curated_Disease_Description_Source__c":"MONDO:0018264","GARD_Synonym__c":"albinism, oculocutaneous, type vi; oca6","Name":"Oculocutaneous albinism type 6","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"The National Organization of Albinism and Hypopigmentation (NOAH)","Website__c":"https://www.albinism.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":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin diseases"},{"Tag_Name__c":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:370097"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:370097"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=722058005","Source__c":"C3805375; MONDO:0018264","Xref__c":"722058005"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3805375","Source__c":"C3805375","Xref__c":"C3805375"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=811705","Source__c":"C3805375","Xref__c":"MEDGEN:811705"},{"URL__c":"https://www.orpha.net/en/disease/detail/370097","Source__c":"C3805375; MONDO:0018264; ORPHA:370097","Xref__c":"ORPHA:370097"},{"URL__c":"https://www.omim.org/entry/113750","Source__c":"C3805375; MONDO:0018264","Xref__c":"OMIM:113750"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080614","Source__c":"MONDO:0018264","Xref__c":"DOID:0080614"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018264","Source__c":"GARD:0017599","Xref__c":"MONDO:0018264"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SLC24A5","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:370097","HPO_Frequency__c":"Very frequent (80-99%)","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:370097","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030613","HPO_Name__c":"Abnormal foveal morphology on macular OCT","HPO_Feature_Type__c":"Imaging_CT"}},{"Provided_By__c":"ORPHA:370097","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008059","HPO_Synonym__c":"Absent/underdeveloped macula","HPO_Name__c":"Aplasia/Hypoplasia of the macula","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:370097","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any structural abnormality of the fundus of the eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001098","HPO_Synonym__c":"Abnormality of the fundus","HPO_Name__c":"Abnormal fundus morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:370097","HPO_Frequency__c":"Very frequent (80-99%)","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:370097","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal pigmentation of the iris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008034","HPO_Name__c":"Abnormal iris pigmentation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:370097","HPO_Frequency__c":"Very frequent (80-99%)","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"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Dermatology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Ophthalmology","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["albinism, oculocutaneous, type vi"," oca6"]}