{"Name":"Renal hypodysplasia/aplasia 1","DiseaseID__c":"GARD:0004791","id":4791,"encodedName":"renal-hypodysplasiaaplasia-1","IsDeleted":false,"Disease_Name_Full__c":"Renal hypodysplasia/aplasia 1","Xref_IDs__c":"C1619700; MEDGEN:301437; MONDO:0024519","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":1,"No_of_Age_at_Onset__c":0,"Description_Source__c":null,"Disease_Description__c":null,"GARD_Name__c":"Renal hypodysplasia/aplasia 1","GARD_Synonym__c":"rhda1; urogenital adysplasia, hereditary","Curated_Disease_Description_Source__c":null,"Curated_Disease_Description__c":"This rare disease affects how kidneys and the urinary tract develop before birth. In some, one or both kidneys are much smaller than expected or do not form at all. Some may also have serious blockages in the urinary tract. These problems are part of a group of birth defects that affect the kidneys and urinary system. When a kidney does not form at all (called renal aplasia), it is considered one of the most severe forms. This disease often leads to death before birth or shortly after birth. In some families, different kidney problems can appear in different relatives; for example, one person may be missing a kidney, while another has kidneys that formed but did not develop normally. This suggests that these conditions may be different versions of the same underlying problem. Some related conditions are linked to specific gene changes, showing that there can be different genetic causes. Because the kidneys and urinary tract formed differently before birth, these changes cannot be reversed. It is hard to predict exactly how this condition will affect any one person, even among people in the same family.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0024519","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"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":"This rare disease affects how kidneys and the urinary tract develop before birth. In some, one or both kidneys are much smaller than expected or do not form at all. Some may also have serious blockages in the urinary tract. These problems are part of a group of birth defects that affect the kidneys and urinary system. When a kidney does not form at all (called renal aplasia), it is considered one of the most severe forms. This disease often leads to death before birth or shortly after birth. In some families, different kidney problems can appear in different relatives; for example, one person may be missing a kidney, while another has kidneys that formed but did not develop normally. This suggests that these conditions may be different versions of the same underlying problem. Some related conditions are linked to specific gene changes, showing that there can be different genetic causes. Because the kidneys and urinary tract formed differently before birth, these changes cannot be reversed. It is hard to predict exactly how this condition will affect any one person, even among people in the same family.","GARD_Synonym__c":"rhda1; urogenital adysplasia, hereditary","Name":"Renal hypodysplasia/aplasia 1","estimateUsa":""}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=301437","Source__c":"C1619700","Xref__c":"MEDGEN:301437"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1619700","Source__c":"C1619700","Xref__c":"C1619700"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0024519","Source__c":"GARD:0004791","Xref__c":"MONDO:0024519"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ITGA8","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"tags":{},"synonyms":["rhda1"," urogenital adysplasia, hereditary"]}