{"Name":"Thiel-Behnke corneal dystrophy","DiseaseID__c":"GARD:0009275","id":9275,"encodedName":"thiel-behnke-corneal-dystrophy","IsDeleted":false,"Disease_Name_Full__c":"Thiel-Behnke corneal dystrophy","Xref_IDs__c":"417065002; C1562894; C535942; DOID:0060455; MEDGEN:287070; MONDO:0011185; OMIM:602082; ORPHA:98960","USA_Estimate__c":null,"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":null,"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":3,"Description_Source__c":"MONDO:0011185","Disease_Description__c":"Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities in the superficial cornea, and progressive visual impairment.","GARD_Name__c":"Thiel-Behnke corneal dystrophy","GARD_Synonym__c":"anterior limiting membrane dystrophy type 2; anterior limiting membrane dystrophy type ii; cdb type ii-corneal dystrophy of bowman's membrane, type ii; cdtb; corneal dystrophy honeycomb shaped; corneal dystrophy honeycomb-shaped; corneal dystrophy of bowman layer type 2; corneal dystrophy of bowman layer type ii; corneal dystrophy of the bowman layer type 2; curly fiber corneal dystrophy; curly fibre corneal dystrophy; honeycomb corneal dystrophy; tbcd; waardenburg-jonker corneal dystrophy","Curated_Disease_Description_Source__c":"MONDO:0011185","Curated_Disease_Description__c":"Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities in the superficial cornea, and progressive visual impairment.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"from Childhood to Adulthood","SourceID__c":"ORPHA:98960","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011185","ORPHANET_ID__c":"ORPHA:98960","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distrofia corneal de thiel-behnke","Spanish_Description_Source__c":"ORPHA:98960","Spanish_Description__c":"La distrofia corneal de Thiel-Behnke (TBCD) es una forma rara de distrofia corneal superficial caracterizada por opacidades corneales subepiteliales con forma de panal en la superficie de la córnea, y deterioro visual progresivo.","Spanish_Disease_Name__c":"distrofia corneal de thiel-behnke","Spanish_GARD_Synonym__c":"distrofia corneal con fibras rizadas; distrofia corneal de la capa de bowman tipo 2; distrofia corneal de la capa de bowman tipo ii; distrofia corneal de waardenburg-jonker; distrofia corneal en panal de miel; distrofia de la membrana limitante anterior tipo 2; distrofia de la membrana limitante anterior tipo ii; tbcd","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":"Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities in the superficial cornea, and progressive visual impairment.","Curated_Disease_Description_Source__c":"MONDO:0011185","GARD_Synonym__c":"anterior limiting membrane dystrophy type 2; anterior limiting membrane dystrophy type ii; cdb type ii-corneal dystrophy of bowman's membrane, type ii; cdtb; corneal dystrophy honeycomb shaped; corneal dystrophy honeycomb-shaped; corneal dystrophy of bowman layer type 2; corneal dystrophy of bowman layer type ii; corneal dystrophy of the bowman layer type 2; curly fiber corneal dystrophy; curly fibre corneal dystrophy; honeycomb corneal dystrophy; tbcd; waardenburg-jonker corneal dystrophy","Name":"Thiel-Behnke corneal dystrophy","estimateUsa":""}],"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:98960"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:98960"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:98960"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1562894"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009275","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=287070","Source__c":"C1562894","Xref__c":"MEDGEN:287070"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060455","Source__c":"MONDO:0011185","Xref__c":"DOID:0060455"},{"URL__c":"https://www.omim.org/entry/602082","Source__c":"C1562894; MONDO:0011185; ORPHA:98960","Xref__c":"OMIM:602082"},{"URL__c":"https://www.orpha.net/en/disease/detail/98960","Source__c":"C1562894; MONDO:0011185; ORPHA:98960","Xref__c":"ORPHA:98960"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=417065002","Source__c":"C1562894; MONDO:0011185","Xref__c":"417065002"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1562894","Source__c":"C1562894","Xref__c":"C1562894"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535942","Source__c":"MONDO:0011185","Xref__c":"C535942"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011185","Source__c":"GARD:0009275","Xref__c":"MONDO:0011185"}],"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":"ORPHA:98960","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007924","HPO_Synonym__c":"Slow decrease in sharpness of vision; Subacute deterioration of visual acuity","HPO_Name__c":"Slow decrease in visual acuity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98960","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":"ORPHA:98960","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008039","HPO_Name__c":"Subepithelial corneal opacities","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98960","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":"ORPHA:98960","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:98960","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Intermittent pain, i.e., pain that occurs occasionally and at irregular intervals.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032148","HPO_Name__c":"Episodic pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98960","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200026","HPO_Synonym__c":"Eye pain","HPO_Name__c":"Ocular pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98960","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000495","HPO_Synonym__c":"Corneal erosions, recurrent; Recurrent breakdown of clear protective layer of eye; Recurrent corneal ulceration","HPO_Name__c":"Recurrent corneal erosions","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98960","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007881","HPO_Name__c":"Central corneal dystrophy","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 2"," anterior limiting membrane dystrophy type ii"," cdb type ii-corneal dystrophy of bowman's membrane, type ii"," cdtb"," corneal dystrophy honeycomb shaped"," corneal dystrophy honeycomb-shaped"," corneal dystrophy of bowman layer type 2"," corneal dystrophy of bowman layer type ii"," corneal dystrophy of the bowman layer type 2"," curly fiber corneal dystrophy"," curly fibre corneal dystrophy"," honeycomb corneal dystrophy"," tbcd"," waardenburg-jonker corneal dystrophy"]}