{"Name":"Epithelial recurrent erosion dystrophy","DiseaseID__c":"GARD:0017338","id":17338,"encodedName":"epithelial-recurrent-erosion-dystrophy","IsDeleted":false,"Disease_Name_Full__c":"Epithelial recurrent erosion dystrophy","Xref_IDs__c":"715908008; C1852551; C565155; DOID:0070337; MEDGEN:342263; MONDO:0007381; OMIM:122400; ORPHA:293381","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":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0007381","Disease_Description__c":"Epithelial recurrent erosion dystrophy (ERED) is a rare form of superficial corneal dystrophy (see this term) characterized by recurrent episodes of epithelial erosions from childhood in the absence of associated diseases, with occasional impairment of vision.","GARD_Name__c":"Epithelial recurrent erosion dystrophy","GARD_Synonym__c":"corneal erosions, recurring hereditary; dystrophia helsinglandica; dystrophia smolandiensis; epithelial recurrent erosion dystrophy of cornea; ered; recurrent hereditary corneal erosions","Curated_Disease_Description_Source__c":"ORPHA:293381","Curated_Disease_Description__c":"Epithelial recurrent erosion dystrophy (ERED) is a rare form of superficial corneal dystrophy characterized by recurrent episodes of epithelial erosions from childhood in the absence of associated diseases, with occasional impairment of vision.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:293381","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007381","ORPHANET_ID__c":"ORPHA:293381","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distrofia por erosiones epiteliales recurrentes","Spanish_Description_Source__c":"ORPHA:293381","Spanish_Description__c":"La distrofia por erosiones epiteliales recurrentes (ERED; de sus siglas en inglés) es una forma rara de distrofia corneal superficial (consulte este término) caracterizada por episodios recurrentes de erosiones epiteliales desde la infancia en ausencia de enfermedades asociadas, con deterioro ocasional de la visión.","Spanish_Disease_Name__c":"distrofia por erosiones epiteliales recurrentes","Spanish_GARD_Synonym__c":"distrofia helsinglandica; distrofia smolandiensis; ered; erosiones corneales hereditarias recurrentes","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":"Epithelial recurrent erosion dystrophy (ERED) is a rare form of superficial corneal dystrophy characterized by recurrent episodes of epithelial erosions from childhood in the absence of associated diseases, with occasional impairment of vision.","Curated_Disease_Description_Source__c":"ORPHA:293381","GARD_Synonym__c":"corneal erosions, recurring hereditary; dystrophia helsinglandica; dystrophia smolandiensis; epithelial recurrent erosion dystrophy of cornea; ered; recurrent hereditary corneal erosions","Name":"Epithelial recurrent erosion 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:293381"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715908008","Source__c":"C1852551; MONDO:0007381","Xref__c":"715908008"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565155","Source__c":"MONDO:0007381","Xref__c":"C565155"},{"URL__c":"https://www.orpha.net/en/disease/detail/293381","Source__c":"C1852551; MONDO:0007381; ORPHA:293381","Xref__c":"ORPHA:293381"},{"URL__c":"https://www.omim.org/entry/122400","Source__c":"C1852551; MONDO:0007381; ORPHA:293381","Xref__c":"OMIM:122400"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1852551","Source__c":"C1852551","Xref__c":"C1852551"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070337","Source__c":"MONDO:0007381","Xref__c":"DOID:0070337"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=342263","Source__c":"C1852551","Xref__c":"MEDGEN:342263"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007381","Source__c":"GARD:0017338","Xref__c":"MONDO:0007381"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"COL17A1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/col17a1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:293381","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Lack of sharpness of vision resulting in the inability to see fine detail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000622","HPO_Synonym__c":"Blurred vision","HPO_Name__c":"Blurred vision","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:293381","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of astigmatism in which the principle meridians are not 90 degrees apart and which is associated with loss of vision.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031792","HPO_Name__c":"Irregular astigmatism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:293381","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:293381","HPO_Frequency__c":"Very frequent (80-99%)","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:293381","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":"ORPHA:293381","HPO_Frequency__c":"Very frequent (80-99%)","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:293381","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001097","HPO_Synonym__c":"Dry eyes; Keratitis sicca; Xerophthalmia","HPO_Name__c":"Keratoconjunctivitis sicca","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:293381","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000559","HPO_Name__c":"Corneal scarring","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:293381","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:293381","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction of previously attained ability to see.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000529","HPO_Synonym__c":"Loss of visual acuity; Progressive loss of vision; Progressive vision loss; Progressive visual acuity loss; Progressive visual impairment; Slowly progressive visual loss; Vision loss, progressive; Visual loss, progressive","HPO_Name__c":"Progressive visual loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:293381","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally increased lacrimation, that is, excessive tearing (watering eye).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009926","HPO_Synonym__c":"Increased lacrimation; Increased tears; Tearing; Watery eyes","HPO_Name__c":"Epiphora","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Anterior segment of Eye","Pediatrics"]},"synonyms":["corneal erosions, recurring hereditary"," dystrophia helsinglandica"," dystrophia smolandiensis"," epithelial recurrent erosion dystrophy of cornea"," ered"," recurrent hereditary corneal erosions"]}