{"Name":"Ocular cicatricial pemphigoid","DiseaseID__c":"GARD:0008759","id":8759,"encodedName":"ocular-cicatricial-pemphigoid","IsDeleted":false,"Disease_Name_Full__c":"Ocular cicatricial pemphigoid","Xref_IDs__c":"314757003; C1282359; C84939; MEDGEN:266181; MONDO:0008109; OMIM:164185; ORPHA:99922","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"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":0,"Description_Source__c":"MONDO:0008109","Disease_Description__c":"Ocular cicatricial pemphigoid (OCP) is a form of mucous membrane pemphigoid (a group of rare, chronic autoimmune disorders) that affects the eyes. In the early stages, people with OCPgenerally experience chronic or relapsing conjunctivitis that is often characterized by tearing, irritation, burning, and/or mucus drainage. If left untreated, OCP can progress to severe conjunctiva scarring and vision loss. Involvement of other mucosal sites and the skin may also occur in OCP. The exact underlying cause is currently unknown. The treatment of OCP aims to slow disease progression and prevent complications. This usually involves long-term use of medications called immunomodulators which help regulate or normalize the immune system.","GARD_Name__c":"Ocular cicatricial pemphigoid","GARD_Synonym__c":"cicatricial pemphigoid with ocular involvement; ocp; ocp - ocular cicatricial pemphigoid; ocular pemphigoid","Curated_Disease_Description_Source__c":"GARD:0008759","Curated_Disease_Description__c":"Ocular cicatricial pemphigoid (OCP) is a form of mucous membrane pemphigoid (a group of rare, chronic autoimmune disorders) that affects the eyes. In the early stages, people with OCP generally experience chronic or relapsing conjunctivitis that is often characterized by tearing, irritation, burning, and/or mucus drainage. Involvement of other mucosal sites and the skin may also occur in OCP. The exact underlying cause is currently unknown.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:99922","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008109","ORPHANET_ID__c":"ORPHA:99922","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Penfigoide ocular cicatricial","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"penfigoide ocular cicatricial","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":"Ocular cicatricial pemphigoid (OCP) is a form of mucous membrane pemphigoid (a group of rare, chronic autoimmune disorders) that affects the eyes. In the early stages, people with OCP generally experience chronic or relapsing conjunctivitis that is often characterized by tearing, irritation, burning, and/or mucus drainage. Involvement of other mucosal sites and the skin may also occur in OCP. The exact underlying cause is currently unknown.","Curated_Disease_Description_Source__c":"GARD:0008759","GARD_Synonym__c":"cicatricial pemphigoid with ocular involvement; ocp; ocp - ocular cicatricial pemphigoid; ocular pemphigoid","Name":"Ocular cicatricial pemphigoid","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Global Autoimmune Institute","Website__c":"https://www.autoimmuneinstitute.org/"},{"Account_Name__c":"International Pemphigus & Pemphigoid Foundation","Website__c":"https://www.pemphigus.org/"},{"Account_Name__c":"Autoimmune Association","Website__c":"https://autoimmune.org/"}],"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"}],"External_Identifier_Disease__c":[{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84939","Source__c":"C1282359; MONDO:0008109","Xref__c":"C84939"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=314757003","Source__c":"C1282359; MONDO:0008109","Xref__c":"314757003"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=266181","Source__c":"C1282359","Xref__c":"MEDGEN:266181"},{"URL__c":"https://www.orpha.net/en/disease/detail/99922","Source__c":"MONDO:0008109","Xref__c":"ORPHA:99922"},{"URL__c":"https://www.omim.org/entry/164185","Source__c":"C1282359; MONDO:0008109","Xref__c":"OMIM:164185"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1282359","Source__c":"C1282359","Xref__c":"C1282359"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008109","Source__c":"GARD:0008759","Xref__c":"MONDO:0008109"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:164185","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"}}],"tags":{"Specialist":["Ophthalmology","Anterior segment of Eye"]},"synonyms":["cicatricial pemphigoid with ocular involvement"," ocp"," ocp - ocular cicatricial pemphigoid"," ocular pemphigoid"]}