{"Name":"Atypical Norrie disease due to monosomy Xp11.3","DiseaseID__c":"GARD:0020782","id":20782,"encodedName":"atypical-norrie-disease-due-to-monosomy-xp113","IsDeleted":false,"Disease_Name_Full__c":"Atypical Norrie disease due to monosomy Xp11.3","Xref_IDs__c":"733626002; C4518083; MEDGEN:1377538; MONDO:0016850; ORPHA:261501","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":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0016850","Disease_Description__c":"A rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome X, principally characterized by classical Norrie disease (bilateral, severe retinal malformations and opacity of the lens leading to congenital blindness, on occasion associated with progressive sensorineural deafness and intellectual disability), microcephaly, hypotonia, psychomotor and growth delay, moderate to severe mental handicap and disruptive behaviour. Clinical phenotype is highly variable and immunodeficiency, epilepsy and hypogonadism have also been reported.","GARD_Name__c":"Atypical Norrie disease due to monosomy Xp11.3","GARD_Synonym__c":"atypical norrie disease due to del(x)(p11.3); atypical norrie disease due to nullisomy xp11.3; atypical norrie disease due to xp11.3 microdeletion","Curated_Disease_Description_Source__c":"ORPHA:261501","Curated_Disease_Description__c":"A rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome X, principally characterized by classical Norrie disease (bilateral, severe retinal malformations and opacity of the lens leading to congenital blindness, on occasion associated with progressive sensorineural deafness and intellectual disability), microcephaly, hypotonia, psychomotor and growth delay, moderate to severe mental handicap and disruptive behavior. Clinical phenotype is highly variable and immunodeficiency, epilepsy and hypogonadism have also been reported.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:261501","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016850","ORPHANET_ID__c":"ORPHA:261501","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de norrie atípica por microdeleción xp11.3","Spanish_Description_Source__c":"ORPHA:261501","Spanish_Description__c":"Ees un síndrome poco frecuente de anomalías cromosómicas resultante de la deleción parcial del brazo corto del cromosoma X. Se caracteriza principalmente por la enfermedad de Norrie clásica (graves malformaciones bilaterales de la retina y opacidad de las lentes que resultan en ceguera congénita, en ocasiones asociada con sordera neurosensorial progresiva y discapacidad intelectual), microcefalia, hipotonía, retraso psicomotor y del crecimiento, discapacidad intelectual de moderada a grave y conducta disruptiva. El fenotipo clínico es altamente variable y también se ha descrito la presencia de inmunodeficiencia, epilepsia e hipogonadismo.","Spanish_Disease_Name__c":"enfermedad de norrie atípica por microdeleción xp11.3","Spanish_GARD_Synonym__c":"enfermedad de norrie atípica por del(x)(p11.3); enfermedad de norrie atípica por nulisomía xp11.3","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 chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome X, principally characterized by classical Norrie disease (bilateral, severe retinal malformations and opacity of the lens leading to congenital blindness, on occasion associated with progressive sensorineural deafness and intellectual disability), microcephaly, hypotonia, psychomotor and growth delay, moderate to severe mental handicap and disruptive behavior. Clinical phenotype is highly variable and immunodeficiency, epilepsy and hypogonadism have also been reported.","Curated_Disease_Description_Source__c":"ORPHA:261501","GARD_Synonym__c":"atypical norrie disease due to del(x)(p11.3); atypical norrie disease due to nullisomy xp11.3; atypical norrie disease due to xp11.3 microdeletion","Name":"Atypical Norrie disease due to monosomy Xp11.3","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Chromosome Disorder Outreach","Website__c":"https://chromodisorder.org/"},{"Account_Name__c":"Unique","Website__c":"https://rarechromo.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Chromosomal Anomaly","Tag_Category__c":"Account;Cause","curated_tag_name":"Chromosome disorders"},{"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":"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:261501"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=733626002","Source__c":"C4518083; MONDO:0016850","Xref__c":"733626002"},{"URL__c":"https://www.orpha.net/en/disease/detail/261501","Source__c":"C4518083; MONDO:0016850; ORPHA:261501","Xref__c":"ORPHA:261501"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1377538","Source__c":"C4518083","Xref__c":"MEDGEN:1377538"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4518083","Source__c":"C4518083","Xref__c":"C4518083"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016850","Source__c":"GARD:0020782","Xref__c":"MONDO:0016850"}],"tags":{"Account":["Chromosomal Anomaly"],"Cause":["Chromosomal Anomaly","Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["atypical norrie disease due to del(x)(p11.3)"," atypical norrie disease due to nullisomy xp11.3"," atypical norrie disease due to xp11.3 microdeletion"]}