{"Name":"X-linked osteoporosis with fractures","DiseaseID__c":"GARD:0017614","id":17614,"encodedName":"x-linked-osteoporosis-with-fractures","IsDeleted":false,"Disease_Name_Full__c":"X-linked osteoporosis with fractures","Xref_IDs__c":"782785002; C5190610; MEDGEN:1674557; MONDO:0018315; ORPHA:391330","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:391330","Disease_Description__c":"X-linked osteoporosis with fractures is a rare, genetic, primary bone dysplasia with decreased bone density disorder characterized by childhood-onset osteoporosis associated with recurrent, multiple, osteoporotic, long bone fractures and/or vertebral compression fractures, significant height loss in adulthood, low bone mineral density scores, and otherwise no other abnormalities. Heterozygote females may be unaffected or have a milder phenotype.","GARD_Name__c":"X-linked osteoporosis with fractures","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"ORPHA:391330","Curated_Disease_Description__c":"A rare, genetic, primary bone dysplasia with decreased bone density disorder characterised by childhood-onset osteoporosis associated with recurrent, multiple, osteoporotic, long bone fractures and/or vertebral compression fractures, significant height loss in adulthood, low bone mineral density scores, and otherwise no other abnormalities. Heterozygote females may be unaffected or have a milder phenotype.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:391330","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018315","ORPHANET_ID__c":"ORPHA:391330","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Osteoporosis ligada al cromosoma x con fracturas","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"osteoporosis ligada al cromosoma x con fracturas","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, genetic, primary bone dysplasia with decreased bone density disorder characterised by childhood-onset osteoporosis associated with recurrent, multiple, osteoporotic, long bone fractures and/or vertebral compression fractures, significant height loss in adulthood, low bone mineral density scores, and otherwise no other abnormalities. Heterozygote females may be unaffected or have a milder phenotype.","Curated_Disease_Description_Source__c":"ORPHA:391330","Name":"X-linked osteoporosis with fractures","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Bone Health & Osteoporosis Foundation","Website__c":"https://www.bonehealthandosteoporosis.org"},{"Account_Name__c":"International Osteoporosis Foundation","Website__c":"https://www.osteoporosis.foundation/"}],"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:391330"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5190610","Source__c":"C5190610","Xref__c":"C5190610"},{"URL__c":"https://www.orpha.net/en/disease/detail/391330","Source__c":"C5190610; MONDO:0018315; ORPHA:391330","Xref__c":"ORPHA:391330"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1674557","Source__c":"C5190610","Xref__c":"MEDGEN:1674557"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=782785002","Source__c":"C5190610","Xref__c":"782785002"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018315","Source__c":"GARD:0017614","Xref__c":"MONDO:0018315"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PLS3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":[""]}