{"Name":"Familial pterygium of the conjunctiva","DiseaseID__c":"GARD:0004569","id":4569,"encodedName":"familial-pterygium-of-the-conjunctiva","IsDeleted":false,"Disease_Name_Full__c":"Familial pterygium of the conjunctiva","Xref_IDs__c":"C4274782; C566740; MEDGEN:896736; MONDO:0008337; OMIM:178000; ORPHA:2989","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0008337","Disease_Description__c":"A rare form of pterygium, which develops in early adulthood, characterized by a wing-like bulbar thickening of the conjunctiva in the interpalpebral fissure area that can be cured by surgical excision.","GARD_Name__c":"Familial pterygium of the conjunctiva","GARD_Synonym__c":"autosomal dominant pterygium of conjunctiva; pterygium of conjunctiva and cornea; pterygium of conjunctiva familial form","Curated_Disease_Description_Source__c":"GARD:0004569","Curated_Disease_Description__c":"Pterygium of the conjunctiva and cornea is a benign (non-cancerous) pink lesion that grows from the conjunctiva onto the cornea. They typically start from on the inner surface of the eye, and grow toward the the pupil. Long term exposure to ultraviolet light has been associated with causing this condition. Depending on the size of the pterygium, a person can experience vision problems.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Teenager and as an Adult","SourceID__c":"ORPHA:2989","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008337","ORPHANET_ID__c":"ORPHA:2989","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Pterigión de la conjuntiva familiar","Spanish_Description_Source__c":"ORPHA:2989","Spanish_Description__c":"Es un tipo de pterygium poco frecuente que se desarrolla al inicio de la edad adulta y que se caracteriza por un engrosamiento en forma alada de la conjuntiva bulbar, en el área de la fisura interpalpebral, y que puede ser curada mediante una escisión quirúrgica.","Spanish_Disease_Name__c":"pterigión de la conjuntiva familiar","Spanish_GARD_Synonym__c":null,"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":"Pterygium of the conjunctiva and cornea is a benign (non-cancerous) pink lesion that grows from the conjunctiva onto the cornea. They typically start from on the inner surface of the eye, and grow toward the the pupil. Long term exposure to ultraviolet light has been associated with causing this condition. Depending on the size of the pterygium, a person can experience vision problems.","Curated_Disease_Description_Source__c":"GARD:0004569","GARD_Synonym__c":"autosomal dominant pterygium of conjunctiva; pterygium of conjunctiva and cornea; pterygium of conjunctiva familial form","Name":"Familial pterygium of the conjunctiva","estimateUsa":""}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer","Tag_Category__c":"Disease Category","category_description":"Cancer is a disease in which some of the body's cells grow uncontrollably and can spread to other parts of the body.","curated_tag_name":"Cancer"},{"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":"Adolescent","Provided_By__c":"ORPHA:2989"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:2989"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/178000","Source__c":"MONDO:0008337; ORPHA:2989","Xref__c":"OMIM:178000"},{"URL__c":"https://www.orpha.net/en/disease/detail/2989","Source__c":"C4274782; MONDO:0008337; ORPHA:2989","Xref__c":"ORPHA:2989"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566740","Source__c":"MONDO:0008337","Xref__c":"C566740"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=716197003","Source__c":"C4274782","Xref__c":"716197003"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=896736","Source__c":"C4274782","Xref__c":"MEDGEN:896736"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008337","Source__c":"GARD:0004569","Xref__c":"MONDO:0008337"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4274782","Source__c":"C4274782","Xref__c":"C4274782"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2989","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any abnormality of the eye, including location, spacing, and intraocular abnormalities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000478","HPO_Synonym__c":"Abnormal eye; Abnormality of the eye","HPO_Name__c":"Abnormality of the eye","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2989","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:2989","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormality of eyesight (visual perception).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000504","HPO_Synonym__c":"Abnormality of sight; Abnormality of vision; Vision issue","HPO_Name__c":"Abnormality of vision","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Cancer"],"Specialist":["Ophthalmology","Anterior segment of Eye","Pediatrics"]},"synonyms":["autosomal dominant pterygium of conjunctiva"," pterygium of conjunctiva and cornea"," pterygium of conjunctiva familial form"]}