{"Name":"Blindness - scoliosis - arachnodactyly syndrome","DiseaseID__c":"GARD:0017070","id":17070,"encodedName":"blindness-scoliosis-arachnodactyly-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Blindness - scoliosis - arachnodactyly syndrome","Xref_IDs__c":"717920004; C2676234; C567309; MEDGEN:436640; MONDO:0012907; OMIM:612445; ORPHA:171844","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":7,"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":1,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0012907","Disease_Description__c":"This syndrome associates progressive visual loss with scoliosis or kyphoscoliosis and arachnodactyly of the fingers and toes.","GARD_Name__c":"Blindness - scoliosis - arachnodactyly syndrome","GARD_Synonym__c":"blindness-scoliosis-arachnodactyly syndrome; scoliosis, arachnodactyly, and blindness","Curated_Disease_Description_Source__c":"MONDO:0012907","Curated_Disease_Description__c":"This syndrome associates progressive visual loss with scoliosis or kyphoscoliosis and arachnodactyly of the fingers and toes.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child and as a Teenager","SourceID__c":"ORPHA:171844","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012907","ORPHANET_ID__c":"ORPHA:171844","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de ceguera-escoliosis-aracnodactilia","Spanish_Description_Source__c":"ORPHA:171844","Spanish_Description__c":"Es un síndrome que asocia la pérdida de visión progresiva con escoliosis o cifoescoliosis y aracnodactilia en dedos de manos y pies.","Spanish_Disease_Name__c":"síndrome de ceguera-escoliosis-aracnodactilia","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:93890","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":"This syndrome associates progressive visual loss with scoliosis or kyphoscoliosis and arachnodactyly of the fingers and toes.","Curated_Disease_Description_Source__c":"MONDO:0012907","GARD_Synonym__c":"blindness-scoliosis-arachnodactyly syndrome; scoliosis, arachnodactyly, and blindness","Name":"Blindness - scoliosis - arachnodactyly syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Scoliosis Foundation","Website__c":"https://www.scoliosis.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":"Rheumatology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"},{"Tag_Name__c":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:171844"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:171844"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567309","Source__c":"MONDO:0012907","Xref__c":"C567309"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=436640","Source__c":"C2676234","Xref__c":"MEDGEN:436640"},{"URL__c":"https://www.orpha.net/en/disease/detail/171844","Source__c":"C2676234; MONDO:0012907","Xref__c":"ORPHA:171844"},{"URL__c":"https://www.omim.org/entry/612445","Source__c":"C2676234; MONDO:0012907; ORPHA:171844","Xref__c":"OMIM:612445"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=717920004","Source__c":"MONDO:0012907","Xref__c":"717920004"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2676234","Source__c":"C2676234","Xref__c":"C2676234"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012907","Source__c":"GARD:0017070","Xref__c":"MONDO:0012907"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:171844","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000518","HPO_Synonym__c":"Cataracts; Clouding of the lens of the eye; Cloudy lens; Lens opacities; Lens opacity","HPO_Name__c":"Cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171844","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:171844","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000618","HPO_Synonym__c":"Blindness; Total vision loss","HPO_Name__c":"Blindness","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171844","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of an abnormal lateral curvature of the spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002650","HPO_Name__c":"Scoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171844","HPO_Frequency__c":"Frequent (30-79%)","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:171844","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000572","HPO_Synonym__c":"Loss of vision; Vision loss; Visual loss","HPO_Name__c":"Visual loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171844","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000565","HPO_Synonym__c":"Inward turning cross eyed","HPO_Name__c":"Esotropia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171844","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Partial dislocation of the lens of the eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001132","HPO_Synonym__c":"Partially dislocated lens","HPO_Name__c":"Lens subluxation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171844","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:171844","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal smallness of the lens.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012376","HPO_Synonym__c":"Small lens","HPO_Name__c":"Microphakia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171844","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally long and slender fingers (spider fingers).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001166","HPO_Synonym__c":"Long slender fingers; Long, slender fingers; Spider fingers","HPO_Name__c":"Arachnodactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Rheumatology","Orthopedics","Retinal","Anterior segment of Eye","Pediatrics"],"Account":["Retinal"]},"synonyms":["blindness-scoliosis-arachnodactyly syndrome"," scoliosis, arachnodactyly, and blindness"]}