{"Name":"Karandikar Maria Kamble syndrome","DiseaseID__c":"GARD:0000192","id":192,"encodedName":"karandikar-maria-kamble-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Karandikar Maria Kamble syndrome","Xref_IDs__c":"715989002; C2931391; C537009; MEDGEN:419068; MONDO:0015324","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":0,"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":2,"Disease_Characteristics_Score__c":2,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0015324","Disease_Description__c":"Cataract-intellectual disability-anal atresia-urinary defects syndrome is characterised by congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies.","GARD_Name__c":"Karandikar Maria Kamble syndrome","GARD_Synonym__c":"cataract-intellectual disability-anal atresia-urinary defects syndrome; congenital cataract with intellectual disability and anal atresia and urinary defect syndrome; congenital cataract with multiple congenital anomalies in a sibship; karandikar-maria-kamble syndrome","Curated_Disease_Description_Source__c":"MONDO:0015324","Curated_Disease_Description__c":"Cataract-intellectual disability-anal atresia-urinary defects syndrome is characterized by congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:1381","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015324","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":"ORPHA:1381","Spanish_Description__c":"El síndrome de catarata-discapacidad intelectual-atresia anal-defectos urinarios está caracterizado por cataratas congénitas con estrabismo, déficit intelectual, anomalías del tracto genitourinario (fístula rectovesical, micropene, testículos no descendidos e hipospadias), ano imperforado y otras anomalías.","Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Cataract-intellectual disability-anal atresia-urinary defects syndrome is characterized by congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies.","Curated_Disease_Description_Source__c":"MONDO:0015324","GARD_Synonym__c":"cataract-intellectual disability-anal atresia-urinary defects syndrome; congenital cataract with intellectual disability and anal atresia and urinary defect syndrome; congenital cataract with multiple congenital anomalies in a sibship; karandikar-maria-kamble syndrome","Name":"Karandikar Maria Kamble syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Pull-thru Network","Website__c":"https://www.pullthrunetwork.org/"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=419068","Source__c":"C2931391","Xref__c":"MEDGEN:419068"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715989002","Source__c":"C2931391; MONDO:0015324","Xref__c":"715989002"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537009","Source__c":"MONDO:0015324","Xref__c":"C537009"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2931391","Source__c":"C2931391","Xref__c":"C2931391"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015324","Source__c":"GARD:0000192","Xref__c":"MONDO:0015324"}],"tags":{},"synonyms":["cataract-intellectual disability-anal atresia-urinary defects syndrome"," congenital cataract with intellectual disability and anal atresia and urinary defect syndrome"," congenital cataract with multiple congenital anomalies in a sibship"," karandikar-maria-kamble syndrome"]}