{"Name":"LRP5-related primary osteoporosis","DiseaseID__c":"GARD:0022031","id":22031,"encodedName":"lrp5-related-primary-osteoporosis","IsDeleted":false,"Disease_Name_Full__c":"LRP5-related primary osteoporosis","Xref_IDs__c":"1169364005; C5567241; MEDGEN:1798664; MONDO:0044675; ORPHA:498481","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"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":2,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:498481","Disease_Description__c":"A rare primary bone dysplasia characterized by reduced bone mineral density (defined as a Z score below -2.0), vertebral compression fractures, and recurrent peripheral fractures caused by low-impact trauma, leading to bone pain and impaired mobility. Patients typically become symptomatic in childhood or adolescence.","GARD_Name__c":"LRP5-related primary osteoporosis","GARD_Synonym__c":"low density lipoprotein receptor-related protein 5 related primary osteoporosis","Curated_Disease_Description_Source__c":"ORPHA:498481","Curated_Disease_Description__c":"A rare primary bone dysplasia characterized by reduced bone mineral density (defined as a Z score below -2.0), vertebral compression fractures, and recurrent peripheral fractures caused by low-impact trauma, leading to bone pain and impaired mobility. Patients typically become symptomatic in childhood or adolescence.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child and as a Teenager","SourceID__c":"ORPHA:498481","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0044675","ORPHANET_ID__c":"ORPHA:498481","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Osteoporosis primaria asociada al gen lrp5","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"osteoporosis primaria asociada al gen lrp5","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:93419","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 primary bone dysplasia characterized by reduced bone mineral density (defined as a Z score below -2.0), vertebral compression fractures, and recurrent peripheral fractures caused by low-impact trauma, leading to bone pain and impaired mobility. Patients typically become symptomatic in childhood or adolescence.","Curated_Disease_Description_Source__c":"ORPHA:498481","GARD_Synonym__c":"low density lipoprotein receptor-related protein 5 related primary osteoporosis","Name":"LRP5-related primary osteoporosis","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":"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":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:498481"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:498481"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1798664","Source__c":"C5567241","Xref__c":"MEDGEN:1798664"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5567241","Source__c":"C5567241","Xref__c":"C5567241"},{"URL__c":"https://www.orpha.net/en/disease/detail/498481","Source__c":"C5567241; MONDO:0044675; ORPHA:498481","Xref__c":"ORPHA:498481"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1169364005","Source__c":"C5567241","Xref__c":"1169364005"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0044675","Source__c":"GARD:0022031","Xref__c":"MONDO:0044675"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"LRP5","GHR_URL__c":"https://medlineplus.gov/genetics/gene/lrp5","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["low density lipoprotein receptor-related protein 5 related primary osteoporosis"]}