{"Name":"Ring dermoid of cornea","DiseaseID__c":"GARD:0009696","id":9696,"encodedName":"ring-dermoid-of-cornea","IsDeleted":false,"Disease_Name_Full__c":"Ring dermoid of cornea","Xref_IDs__c":"723499000; C1867155; C535684; DOID:0111548; MEDGEN:357922; MONDO:0008387; OMIM:180550; ORPHA:91481","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0008387","Disease_Description__c":"Ring dermoid of cornea is characterised by annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension. Less than 30 cases have been described. Transmission is autosomal dominant and mutations in the <i>PITX2</i> gene have been suggested as a potential cause of the condition.","GARD_Name__c":"Ring dermoid of cornea","GARD_Synonym__c":"rdc; ring dermoid syndrome","Curated_Disease_Description_Source__c":"MONDO:0008387","Curated_Disease_Description__c":"Ring dermoid of cornea is characterized by annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension. Less than 30 cases have been described. Transmission is autosomal dominant and mutations in the PITX2 gene have been suggested as a potential cause of the condition.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:91481","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008387","ORPHANET_ID__c":"ORPHA:91481","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Dermoide anular de la córnea","Spanish_Description_Source__c":"ORPHA:91481","Spanish_Description__c":"Es un trastorno caracterizado por dermoides limbares anulares (crecimientos con una estructura similar a la piel) con extensión corneal y conjuntival. Se han descrito menos de 30 casos. La transmisión es autosómica dominante y se han sugerido mutaciones en el gen <i>PITX2</i> como posible patogenia de la afección.","Spanish_Disease_Name__c":"dermoide anular de la córnea","Spanish_GARD_Synonym__c":"síndrome dermoide anular","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":"Ring dermoid of cornea is characterized by annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension. Less than 30 cases have been described. Transmission is autosomal dominant and mutations in the PITX2 gene have been suggested as a potential cause of the condition.","Curated_Disease_Description_Source__c":"MONDO:0008387","GARD_Synonym__c":"rdc; ring dermoid syndrome","Name":"Ring dermoid of cornea","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"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":"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:91481"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:91481"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1867155"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009696","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=723499000","Source__c":"C1867155; MONDO:0008387","Xref__c":"723499000"},{"URL__c":"https://www.orpha.net/en/disease/detail/91481","Source__c":"C1867155; MONDO:0008387; ORPHA:91481","Xref__c":"ORPHA:91481"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111548","Source__c":"MONDO:0008387","Xref__c":"DOID:0111548"},{"URL__c":"https://www.omim.org/entry/180550","Source__c":"C1867155; MONDO:0008387; ORPHA:91481","Xref__c":"OMIM:180550"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535684","Source__c":"MONDO:0008387","Xref__c":"C535684"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1867155","Source__c":"C1867155","Xref__c":"C1867155"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=357922","Source__c":"C1867155","Xref__c":"MEDGEN:357922"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008387","Source__c":"GARD:0009696","Xref__c":"MONDO:0008387"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PITX2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/pitx2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:180550","Feature__r":{"HPO_Description__c":"Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000646","HPO_Synonym__c":"Lazy eye; Wandering eye; Wandering eyes","HPO_Name__c":"Amblyopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:180550","Feature__r":{"HPO_Description__c":"A conjuctival lesion composed of adipose tissue and dense connective tissue. Such choristomas of dermal elements are normally found at the outer canthus, and have a gelatinous appearance. Classically, there is an indistinct posterior border (with the lesion frequently extending into the orbit) and a well-demarcated anterior border several millimeters posterior to the limbus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0500070","HPO_Name__c":"Conjunctival dermolipoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:180550","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":"OMIM:180550","Feature__r":{"HPO_Description__c":"An anomaly of the margin of the cornea overlapped by the sclera.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025348","HPO_Synonym__c":"Abnormality of the corneal limbus","HPO_Name__c":"Abnormal corneal limbus morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:180550","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":"OMIM:180550","Feature__r":{"HPO_Description__c":"A type of refractive error related abnormal curvatures on the anterior or posterior surface of the cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025612","HPO_Name__c":"Corneal astigmatism","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Ophthalmology","Pediatrics"],"Disease Category":["Cancer","Genetics"],"Cause":["Genetics"]},"synonyms":["rdc"," ring dermoid syndrome"]}