{"Name":"Axenfeld anomaly","DiseaseID__c":"GARD:0016485","id":16485,"encodedName":"axenfeld-anomaly","IsDeleted":false,"Disease_Name_Full__c":"Axenfeld anomaly","Xref_IDs__c":"204152008; C0266548; HP:0001492; MEDGEN:78611; MONDO:0020368; ORPHA:98978","USA_Estimate__c":null,"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":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":3,"Description_Source__c":"MONDO:0020368","Disease_Description__c":"A rare, congenital, ocular defect caused by anterior segment dysgenesis and characterized by anteriorly displaced Schwalbe's line and iris bands extending into the cornea. In contrast, Rieger's anomaly includes characteristic iris and pupil anomalies.","GARD_Name__c":"Axenfeld anomaly","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"MONDO:0020368","Curated_Disease_Description__c":"A rare, congenital, ocular defect caused by anterior segment dysgenesis and characterized by anteriorly displaced Schwalbe's line and iris bands extending into the cornea. In contrast, Rieger's anomaly includes characteristic iris and pupil anomalies.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"from Birth to Childhood","SourceID__c":"ORPHA:98978","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0020368","ORPHANET_ID__c":"ORPHA:98978","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Anomalía de axenfeld","Spanish_Description_Source__c":"ORPHA:98978","Spanish_Description__c":"Es un defecto ocular congénito raro causado por una disgenesia del segmento anterior y se caracteriza por un desplazamiento anterior de la línea de Schwalbe y bandas en el iris que se extienden dentro de la córnea. En contraste, la anomalía de Rieger incluye anomalías características en iris y pupila.","Spanish_Disease_Name__c":"anomalía de axenfeld","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:93890","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":"A rare, congenital, ocular defect caused by anterior segment dysgenesis and characterized by anteriorly displaced Schwalbe's line and iris bands extending into the cornea. In contrast, Rieger's anomaly includes characteristic iris and pupil anomalies.","Curated_Disease_Description_Source__c":"MONDO:0020368","Name":"Axenfeld anomaly","estimateUsa":""}],"GARD_Disease_Tag__c":[{"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":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"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":"Infancy","Provided_By__c":"ORPHA:98978"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:98978"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:98978"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=78611","Source__c":"C0266548","Xref__c":"MEDGEN:78611"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0266548","Source__c":"C0266548","Xref__c":"C0266548"},{"URL__c":"https://www.orpha.net/en/disease/detail/98978","Source__c":"C0266548; MONDO:0020368; ORPHA:98978","Xref__c":"ORPHA:98978"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=204152008","Source__c":"C0266548; MONDO:0020368","Xref__c":"204152008"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0020368","Source__c":"GARD:0016485","Xref__c":"MONDO:0020368"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0001492","Source__c":"C0266548","Xref__c":"HP:0001492"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"FOXC1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/foxc1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"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"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Anterior segment of Eye","Pediatrics"]},"synonyms":[""]}