{"Name":"Acanthamoeba keratitis","DiseaseID__c":"GARD:0009285","id":9285,"encodedName":"acanthamoeba-keratitis","IsDeleted":false,"Disease_Name_Full__c":"Acanthamoeba keratitis","Xref_IDs__c":"231896005; C0000880; C50450; D015823; MEDGEN:1268; MONDO:0005629; ORPHA:67043","USA_Estimate__c":"50,000","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":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0005629","Disease_Description__c":"Keratitis due to infection by acanthamoeba; it is usually associated with soft contact lens wear, particularly overnight wear.","GARD_Name__c":"Acanthamoeba keratitis","GARD_Synonym__c":"acanthamoeba caused keratitis; amoebic keratitis; keratitis, acanthamoeba","Curated_Disease_Description_Source__c":"MONDO:0005629","Curated_Disease_Description__c":"Keratitis due to infection by acanthamoeba; it is usually associated with soft contact lens wear, particularly overnight wear.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:67043","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0005629","ORPHANET_ID__c":"ORPHA:67043","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Queratitis amebiana","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"queratitis amebiana","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:68416","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":"Keratitis due to infection by acanthamoeba; it is usually associated with soft contact lens wear, particularly overnight wear.","Curated_Disease_Description_Source__c":"MONDO:0005629","GARD_Synonym__c":"acanthamoeba caused keratitis; amoebic keratitis; keratitis, acanthamoeba","Name":"Acanthamoeba keratitis","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Prevent Blindness America","Website__c":"https://preventblindness.org/"},{"Account_Name__c":"Acanthamoeba Keratitis Eye Foundation","Website__c":"https://akeyefoundation.com/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Infectious Disease","Tag_Category__c":"Disease Category;Specialist","category_description":"Infectious diseases are caused by bacteria, viruses, fungi, or parasites entering the body, multiplying, and spreading illness.","curated_tag_name":"Infectious diseases"},{"Tag_Name__c":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Rare Parasitic Disease","Tag_Category__c":"Cause","curated_tag_name":"Parasitic Infectious Diseases"},{"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":"All ages","Provided_By__c":"ORPHA:67043"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=231896005","Source__c":"C0000880; MONDO:0005629","Xref__c":"231896005"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1268","Source__c":"C0000880","Xref__c":"MEDGEN:1268"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C015823","Source__c":"C0000880; MONDO:0005629","Xref__c":"D015823"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C50450","Source__c":"C0000880; MONDO:0005629","Xref__c":"C50450"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0000880","Source__c":"C0000880","Xref__c":"C0000880"},{"URL__c":"https://www.orpha.net/en/disease/detail/67043","Source__c":"C0000880; MONDO:0005629; ORPHA:67043","Xref__c":"ORPHA:67043"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0005629","Source__c":"GARD:0009285","Xref__c":"MONDO:0005629"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:67043","HPO_Frequency__c":"Very frequent (80-99%)","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"}},{"Provided_By__c":"ORPHA:67043","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Loss of iris tissue (atrophy)","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001089","HPO_Synonym__c":"Iris degeneration","HPO_Name__c":"Iris atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:67043","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal accumulation of fluid and swelling of the stroma of cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012040","HPO_Name__c":"Corneal stromal edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:67043","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:67043","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Punctate opacification (reduced transparency) of the corneal stroma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007856","HPO_Synonym__c":"Punctate corneal opacities","HPO_Name__c":"Punctate opacification of the cornea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:67043","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:67043","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inflammation of the uveal tract in which the primary site of inflammation is the anterior chamber.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012122","HPO_Name__c":"Anterior uveitis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:67043","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inflammation of the sclera.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100532","HPO_Name__c":"Scleritis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:67043","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormality of the anterior chamber, which is the space in the eye that is behind the cornea and in front of the iris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000593","HPO_Synonym__c":"Abnormality of the anterior chamber; Anterior chamber anomalies; Ocular anterior chamber abnormality","HPO_Name__c":"Abnormal anterior chamber morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:67043","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A rupture of the cornea through which a portion of the iris protrudes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100583","HPO_Synonym__c":"Iridocele","HPO_Name__c":"Corneal perforation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:67043","HPO_Frequency__c":"Very frequent (80-99%)","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:67043","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004329","HPO_Synonym__c":"Abnormal morphology of the posterior segment of the globe; Abnormality of the posterior segment of the eye; Abnormality of the posterior segment of the eyeball; Abnormality of the posterior segment of the globe","HPO_Name__c":"Abnormal posterior eye segment morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:67043","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Disruption of the epithelial layer of the cornea with involvement of the underlying stroma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012804","HPO_Synonym__c":"Corneal ulcer; Corneal ulcerations","HPO_Name__c":"Corneal ulceration","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:67043","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any abnormality of the cornea, which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000481","HPO_Synonym__c":"Abnormality of the cornea; Corneal abnormalities; Corneal abnormality","HPO_Name__c":"Abnormal cornea morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:67043","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced ability of the cornea to respond to stimulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012155","HPO_Synonym__c":"Corneal hypaesthesia; Corneal hypesthesia; Reduced corneal sensation","HPO_Name__c":"Decreased corneal sensation","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Infectious Disease"],"Specialist":["Infectious Disease","Ophthalmology","Anterior segment of Eye","Pediatrics"],"Cause":["Rare Parasitic Disease"]},"synonyms":["acanthamoeba caused keratitis"," amoebic keratitis"," keratitis, acanthamoeba"]}