{"Name":"Rieger anomaly","DiseaseID__c":"GARD:0016482","id":16482,"encodedName":"rieger-anomaly","IsDeleted":false,"Disease_Name_Full__c":"Rieger anomaly","Xref_IDs__c":"C0265341; C131001; HP:0000558; MEDGEN:78558; MONDO:0019628; ORPHA:91483","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":1,"Description_Source__c":"MONDO:0019628","Disease_Description__c":"Rieger's anomaly is a congenital ocular defect caused by anterior segment dysgenesis and is characterized by severe anterior chamber deformity with prominent strands and marked atrophy of the iris stroma, with hole or pseudo-hole formation and corectopia. The term covers the association of these iris and pupil anomalies with the features of Axenfeld’s anomaly (see this term).","GARD_Name__c":"Rieger anomaly","GARD_Synonym__c":"goniodysgenesis hypodontia; iridogoniodysgenesis with somatic anomalies; rieg; rieger syndrome; rieger's syndrome","Curated_Disease_Description_Source__c":"ORPHA:91483","Curated_Disease_Description__c":"Rieger's anomaly is a congenital ocular defect caused by anterior segment dysgenesis and is characterized by severe anterior chamber deformity with prominent strands and marked atrophy of the iris stroma, with hole or pseudo-hole formation and corectopia. The term covers the association of these iris and pupil anomalies with the features of Axenfeld's anomaly.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:91483","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019628","ORPHANET_ID__c":"ORPHA:91483","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Anomalía de rieger","Spanish_Description_Source__c":"ORPHA:91483","Spanish_Description__c":"La anomalía de Rieger es un defecto ocular congénito causado por una disgenesia del segmento anterior y se caracteriza por una deformidad grave de la cámara anterior con líneas prominentes y una marcada atrofia del estroma del iris, con formación de agujeros o pseudoagujeros y corectopia. El término incluye la asociación de estas anomalías del iris y la pupila con los rasgos característicos de la anomalía de Axenfeld (consulte este término).","Spanish_Disease_Name__c":"anomalía de rieger","Spanish_GARD_Synonym__c":"anomalía de rieger-axenfeld","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":"Rieger's anomaly is a congenital ocular defect caused by anterior segment dysgenesis and is characterized by severe anterior chamber deformity with prominent strands and marked atrophy of the iris stroma, with hole or pseudo-hole formation and corectopia. The term covers the association of these iris and pupil anomalies with the features of Axenfeld's anomaly.","Curated_Disease_Description_Source__c":"ORPHA:91483","GARD_Synonym__c":"goniodysgenesis hypodontia; iridogoniodysgenesis with somatic anomalies; rieg; rieger syndrome; rieger's syndrome","Name":"Rieger 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":"Neonatal","Provided_By__c":"ORPHA:91483"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=78558","Source__c":"C0265341","Xref__c":"MEDGEN:78558"},{"URL__c":"https://www.orpha.net/en/disease/detail/91483","Source__c":"C0265341; MONDO:0019628; ORPHA:91483","Xref__c":"ORPHA:91483"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0265341","Source__c":"C0265341","Xref__c":"C0265341"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0000558","Source__c":"C0265341","Xref__c":"HP:0000558"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019628","Source__c":"GARD:0016482","Xref__c":"MONDO:0019628"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=47507006","Source__c":"C0265341","Xref__c":"47507006"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C131001","Source__c":"C0265341","Xref__c":"C131001"}],"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":["goniodysgenesis hypodontia"," iridogoniodysgenesis with somatic anomalies"," rieg"," rieger syndrome"," rieger's syndrome"]}