{"Name":"Groenouw corneal dystrophy type I","DiseaseID__c":"GARD:0009677","id":9677,"encodedName":"groenouw-corneal-dystrophy-type-i","IsDeleted":false,"Disease_Name_Full__c":"Groenouw corneal dystrophy type I","Xref_IDs__c":"419039007; C1641846; C537304; DOID:0080530; MEDGEN:351521; MONDO:0007377; OMIM:121900; ORPHA:98962","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":1,"Description_Source__c":"MONDO:0007377","Disease_Description__c":"Type I granular corneal dystrophy (GCDI) is a rare form of stromal corneal dystrophy (see this term) characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment, which may sometimes be severe.","GARD_Name__c":"Groenouw corneal dystrophy type I","GARD_Synonym__c":"cdgg1; classic gcd; classic granular corneal dystrophy; corneal dystrophy groenouw type i; gcd1; gcdi; granular corneal dystrophy type 1; granular corneal dystrophy type i; granular corneal dystrophy, type i","Curated_Disease_Description_Source__c":"MONDO:0007377","Curated_Disease_Description__c":"Type I granular corneal dystrophy (GCDI) is a rare form of stromal corneal dystrophy characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment, which may sometimes be severe.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:98962","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007377","ORPHANET_ID__c":"ORPHA:98962","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distrofia corneal granular tipo i","Spanish_Description_Source__c":"ORPHA:98962","Spanish_Description__c":"La distrofia corneal granular tipo I (GCDI) es una forma rara de distrofia corneal estromal (consulte este término) caracterizada por pequeños depósitos múltiples en el estroma corneal central superficial, y por una discapacidad visual progresiva que en ocasiones puede llegar a ser grave.","Spanish_Disease_Name__c":"distrofia corneal granular tipo i","Spanish_GARD_Synonym__c":"distrofia corneal de groenouw tipo i; distrofia corneal granular clásica; distrofia corneal granular tipo 1; gcd clásica; gcd1; gcdi","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":"Type I granular corneal dystrophy (GCDI) is a rare form of stromal corneal dystrophy characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment, which may sometimes be severe.","Curated_Disease_Description_Source__c":"MONDO:0007377","GARD_Synonym__c":"cdgg1; classic gcd; classic granular corneal dystrophy; corneal dystrophy groenouw type i; gcd1; gcdi; granular corneal dystrophy type 1; granular corneal dystrophy type i; granular corneal dystrophy, type i","Name":"Groenouw corneal dystrophy type I","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:98962"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1641846"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009677","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537304","Source__c":"MONDO:0007377","Xref__c":"C537304"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1641846","Source__c":"C1641846","Xref__c":"C1641846"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080530","Source__c":"MONDO:0007377","Xref__c":"DOID:0080530"},{"URL__c":"https://www.omim.org/entry/121900","Source__c":"C1641846; MONDO:0007377; ORPHA:98962","Xref__c":"OMIM:121900"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=351521","Source__c":"C1641846","Xref__c":"MEDGEN:351521"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=419039007","Source__c":"C1641846; MONDO:0007377","Xref__c":"419039007"},{"URL__c":"https://www.orpha.net/en/disease/detail/98962","Source__c":"C1641846; MONDO:0007377; ORPHA:98962","Xref__c":"ORPHA:98962"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007377","Source__c":"GARD:0009677","Xref__c":"MONDO:0007377"}],"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:98962","HPO_Frequency__c":"Frequent (30-79%)","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:98962","HPO_Frequency__c":"Occasional (5-29%)","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:98962","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"}},{"Provided_By__c":"ORPHA:98962","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced transparency of the central portion of the corneal stroma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011493","HPO_Name__c":"Central opacification of the cornea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98962","HPO_Frequency__c":"Occasional (5-29%)","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:98962","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:98962","HPO_Frequency__c":"Occasional (5-29%)","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:98962","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000531","HPO_Synonym__c":"Corneal deposits","HPO_Name__c":"Corneal crystals","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98962","HPO_Frequency__c":"Occasional (5-29%)","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:98962","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormality of the corneal epithelium, that is of the epithelial tissue that covers the front of the cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011495","HPO_Synonym__c":"Abnormality of corneal epithelium","HPO_Name__c":"Abnormal corneal epithelium morphology","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Anterior segment of Eye","Pediatrics"]},"synonyms":["cdgg1"," classic gcd"," classic granular corneal dystrophy"," corneal dystrophy groenouw type i"," gcd1"," gcdi"," granular corneal dystrophy type 1"," granular corneal dystrophy type i"," granular corneal dystrophy, type i"]}