{"Name":"Reis-Bucklers' corneal dystrophy","DiseaseID__c":"GARD:0009276","id":9276,"encodedName":"reis-bucklers-corneal-dystrophy","IsDeleted":false,"Disease_Name_Full__c":"Reis-Bucklers' corneal dystrophy","Xref_IDs__c":"231930000; C0339278; C535476; DOID:0060453; MEDGEN:83284; MONDO:0012043; OMIM:608470; ORPHA:98961","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":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0012043","Disease_Description__c":"Reis-Bücklers corneal dystrophy (RBCD), also known as granular corneal dystrophy type III, is a rare form of superficial corneal dystrophy characterized by bilateral symmetrical reticular opacities in the superficial central cornea, with progressive visual impairment.","GARD_Name__c":"Reis-Bucklers' corneal dystrophy","GARD_Synonym__c":"anterior limiting membrane dystrophy type 1; anterior limiting membrane dystrophy type i; atypical granular corneal dystrophy; cdb type i corneal dystrophy; cdrb; corneal dystrophy of bowman layer type 1; corneal dystrophy of bowman layer type i; corneal dystrophy of bowman layer, type 1; geographic corneal dystrophy; granular corneal dystrophy type 3; granular corneal dystrophy type iii; granular corneal dystrophy, type iii; rbcd; reis-bucklers corneal dystrophy; reis-bücklers corneal dystrophy; superficial granular corneal dystrophy","Curated_Disease_Description_Source__c":"MONDO:0012043","Curated_Disease_Description__c":"Reis-Bücklers corneal dystrophy (RBCD), also known as granular corneal dystrophy type III, is a rare form of superficial corneal dystrophy characterized by bilateral symmetrical reticular opacities in the superficial central cornea, with progressive visual impairment.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:98961","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012043","ORPHANET_ID__c":"ORPHA:98961","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distrofia corneal de reis-bücklers","Spanish_Description_Source__c":"ORPHA:98961","Spanish_Description__c":"La distrofia corneal de Reis-Bücklers (RBCD), también conocida como distrofia corneal granular tipo III, es una forma rara de distrofia corneal superficial caracterizada por opacidades reticulares simétricas bilaterales en la córnea central superficial, con un deterioro visual progresivo.","Spanish_Disease_Name__c":"distrofia corneal de reis-bücklers","Spanish_GARD_Synonym__c":"distrofia corneal de la membrana de bowman tipo 1; distrofia corneal de la membrana de bowman tipo i; distrofia corneal geográfica; distrofia corneal granular atípica; distrofia corneal granular superficial; distrofia corneal granular tipo 3; distrofia corneal granular tipo iii; distrofia de la membrana limitante anterior tipo 1; distrofia de la membrana limitante anterior tipo i; rbcd","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":"Reis-Bücklers corneal dystrophy (RBCD), also known as granular corneal dystrophy type III, is a rare form of superficial corneal dystrophy characterized by bilateral symmetrical reticular opacities in the superficial central cornea, with progressive visual impairment.","Curated_Disease_Description_Source__c":"MONDO:0012043","GARD_Synonym__c":"anterior limiting membrane dystrophy type 1; anterior limiting membrane dystrophy type i; atypical granular corneal dystrophy; cdb type i corneal dystrophy; cdrb; corneal dystrophy of bowman layer type 1; corneal dystrophy of bowman layer type i; corneal dystrophy of bowman layer, type 1; geographic corneal dystrophy; granular corneal dystrophy type 3; granular corneal dystrophy type iii; granular corneal dystrophy, type iii; rbcd; reis-bucklers corneal dystrophy; reis-bücklers corneal dystrophy; superficial granular corneal dystrophy","Name":"Reis-Bucklers' corneal dystrophy","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Corneal Dystrophy Foundation","Website__c":"https://www.cornealdystrophyfoundation.org/home"}],"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":"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":"Childhood","Provided_By__c":"ORPHA:98961"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0339278"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009276","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/entry/608470","Source__c":"C0339278; MONDO:0012043; ORPHA:98961","Xref__c":"OMIM:608470"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=231930000","Source__c":"C0339278; MONDO:0012043","Xref__c":"231930000"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060453","Source__c":"MONDO:0012043","Xref__c":"DOID:0060453"},{"URL__c":"https://www.orpha.net/en/disease/detail/98961","Source__c":"C0339278; MONDO:0012043; ORPHA:98961","Xref__c":"ORPHA:98961"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535476","Source__c":"MONDO:0012043","Xref__c":"C535476"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=83284","Source__c":"C0339278","Xref__c":"MEDGEN:83284"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0339278","Source__c":"C0339278","Xref__c":"C0339278"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012043","Source__c":"GARD:0009276","Xref__c":"MONDO:0012043"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TGFBI","GHR_URL__c":"https://medlineplus.gov/genetics/gene/tgfbi","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:608470","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001131","HPO_Name__c":"Corneal dystrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608470","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Edema in the region of the eyelids.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100540","HPO_Synonym__c":"Edema of the eyelids; Eyelid edema; Fullness of eyelids; Puffy eyelids; Puffy lids; Swelling of eyelids","HPO_Name__c":"Palpebral edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608470","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":"OMIM:608470","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction of corneal clarity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007957","HPO_Synonym__c":"Corneal clouding; Corneal opacities; Reduction of corneal clarity; Scarring or clouding of the cornea of the eye","HPO_Name__c":"Corneal opacity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608470","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced transparency of the stroma of cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007759","HPO_Synonym__c":"Cloudy cornea; Corneal stromal opacity","HPO_Name__c":"Opacification of the corneal stroma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608470","HPO_Frequency__c":"Frequent (30-79%)","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:608470","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An erosion or abrasion of the cornea's outermost layer of epithelial cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200020","HPO_Synonym__c":"Damage to outer layer of the cornea of the eye","HPO_Name__c":"Corneal erosion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608470","HPO_Frequency__c":"Frequent (30-79%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Anterior segment of Eye","Pediatrics"]},"synonyms":["anterior limiting membrane dystrophy type 1"," anterior limiting membrane dystrophy type i"," atypical granular corneal dystrophy"," cdb type i corneal dystrophy"," cdrb"," corneal dystrophy of bowman layer type 1"," corneal dystrophy of bowman layer type i"," corneal dystrophy of bowman layer, type 1"," geographic corneal dystrophy"," granular corneal dystrophy type 3"," granular corneal dystrophy type iii"," granular corneal dystrophy, type iii"," rbcd"," reis-bucklers corneal dystrophy"," reis-bücklers corneal dystrophy"," superficial granular corneal dystrophy"]}