{"Name":"Vernal keratoconjunctivitis","DiseaseID__c":"GARD:0007854","id":7854,"encodedName":"vernal-keratoconjunctivitis","IsDeleted":false,"Disease_Name_Full__c":"Vernal keratoconjunctivitis","Xref_IDs__c":"317349009; C0022577; MEDGEN:9622; MONDO:0019085; ORPHA:70476","USA_Estimate__c":"200,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"800,000 to 5,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0019085","Disease_Description__c":"Vernal keratoconjunctivitis (VKC) is a chronic, severe allergy that affectsthe surfaces of the eyes. It most commonly occurs in boys living in warm, dry climates. Attacks associated with VKC are common in the spring (hence the name 'vernal') and summer but often reoccur in the winter. Signs and symptoms usually begin before 10 years of age and may include hard, cobblestone-like bumps (papillae) on the upper eyelid; sensitivity to light; redness; sticky mucus discharge; andinvoluntary blinking or spasms of the eyelid (blepharospasm).The condition usually subsides at the onset of puberty. It is caused by ahypersensitivity (allergic reaction)to airborne-allergens. Management focuses on preventing 'flare ups' and relieving the symptoms of the condition.","GARD_Name__c":"Vernal keratoconjunctivitis","GARD_Synonym__c":"spring catarrh; vernal keratonconjunctivitis","Curated_Disease_Description_Source__c":"GARD:0007854","Curated_Disease_Description__c":"Vernal keratoconjunctivitis (VKC) is a chronic, severe allergy that affects the surfaces of the eyes. It most commonly occurs in boys living in warm, dry climates. Attacks associated with VKC are common in the spring (hence the name \"vernal\") and summer but often reoccur in the winter. It is caused by a hypersensitivity (allergic reaction) to airborne-allergens.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:70476","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019085","ORPHANET_ID__c":"ORPHA:70476","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Queratoconjuntivitis primaveral","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"queratoconjuntivitis primaveral","Spanish_GARD_Synonym__c":"catarro primaveral","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":"Vernal keratoconjunctivitis (VKC) is a chronic, severe allergy that affects the surfaces of the eyes. It most commonly occurs in boys living in warm, dry climates. Attacks associated with VKC are common in the spring (hence the name \"vernal\") and summer but often reoccur in the winter. It is caused by a hypersensitivity (allergic reaction) to airborne-allergens.","Curated_Disease_Description_Source__c":"GARD:0007854","GARD_Synonym__c":"spring catarrh; vernal keratonconjunctivitis","Name":"Vernal keratoconjunctivitis","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"GARD_Disease_Tag__c":[{"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:70476"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/70476","Source__c":"C0022577; MONDO:0019085; ORPHA:70476","Xref__c":"ORPHA:70476"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0022577","Source__c":"C0022577","Xref__c":"C0022577"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=9622","Source__c":"C0022577","Xref__c":"MEDGEN:9622"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=317349009","Source__c":"C0022577; MONDO:0019085","Xref__c":"317349009"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019085","Source__c":"GARD:0007854","Xref__c":"MONDO:0019085"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:70476","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Conjunctival papillae with a diameter greater than 1 millimeter. They characteristically have flattened tops which sometimes demonstrate staining with fluorescein.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025350","HPO_Name__c":"Giant conjunctival papillae","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70476","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A scar refers to a lesion in which wound, burn, or sore has not healed completely and fibrous connective tissue has developed.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100699","HPO_Synonym__c":"Scarring","HPO_Name__c":"Scarring","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70476","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A focal dystonia that affects the muscles of the eyelids and brow, associated with involuntary recurrent spasm of both eyelids.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000643","HPO_Synonym__c":"Eyelid spasm; Eyelid twitching; Involuntary closure of eyelid; Spontaneous closure of eyelid","HPO_Name__c":"Blepharospasm","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70476","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Dilatation of the blood vessels of the conjunctiva leading to a red appearance of the sclera.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030953","HPO_Synonym__c":"Conjunctival injection; Conjunctival vascular congestion","HPO_Name__c":"Conjunctival hyperemia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70476","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching in the region of the eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033841","HPO_Synonym__c":"Itchy eyes; Ocular itch","HPO_Name__c":"Ocular pruritus","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70476","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A condition characterized by a loss or deficiency of the stem cells in the limbus that are vital for re-population of the corneal epithelium and to the barrier function of the limbus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032107","HPO_Name__c":"Limbal stem cell deficiency","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70476","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Allergic Conjunctivitis is an allergic inflammation of the conjunctiva.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007879","HPO_Name__c":"Allergic conjunctivitis","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70476","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:70476","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:70476","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A cone-shaped deformity of the cornea characterized by the presence of corneal distortion secondary to thinning of the apex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000563","HPO_Synonym__c":"Bulging cornea; Conical cornea","HPO_Name__c":"Keratoconus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70476","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:70476","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Ingrowth of new blood vessels into the cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011496","HPO_Synonym__c":"Corneal vascularization; Limbal neovascularization; New blood vessel formation in cornea","HPO_Name__c":"Corneal neovascularization","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70476","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the conjunctiva.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000502","HPO_Name__c":"Abnormal conjunctiva morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70476","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the sclera.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000591","HPO_Synonym__c":"Abnormality of the sclera","HPO_Name__c":"Abnormal sclera morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70476","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of the eyelids.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000498","HPO_Synonym__c":"Cellulitis of eyelids; Inflammation of eyelids","HPO_Name__c":"Blepharitis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70476","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A perception that an object is in contact with the eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034804","HPO_Synonym__c":"Conjunctival foreign body sensation; Foreign body sensation in the eye","HPO_Name__c":"Corneal foreign body sensation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70476","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:70476","HPO_Frequency__c":"Very frequent (80-99%)","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"}},{"Provided_By__c":"ORPHA:70476","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:70476","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Inflammation of the cornea and conjunctiva.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001096","HPO_Name__c":"Keratoconjunctivitis","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70476","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An allergy is an immune response or reaction to substances that are usually not harmful.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012393","HPO_Synonym__c":"Allergy","HPO_Name__c":"Allergy","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70476","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of keratitis characterized by inflammation in pinpoint areas of the corneal epithelium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011859","HPO_Name__c":"Punctate keratitis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70476","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reddish appearance over the white part (sclera) of the eye ranging from a few enlarged blood vessels appearing as wiggly lines over the sclera to a bright red color completely covering to sclera.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025337","HPO_Synonym__c":"Red eye; Red eyes","HPO_Name__c":"Red eye","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Ophthalmology","Anterior segment of Eye","Pediatrics"]},"synonyms":["spring catarrh"," vernal keratonconjunctivitis"]}