{"Name":"High bone mass osteogenesis imperfecta","DiseaseID__c":"GARD:0021366","id":21366,"encodedName":"high-bone-mass-osteogenesis-imperfecta","IsDeleted":false,"Disease_Name_Full__c":"High bone mass osteogenesis imperfecta","Xref_IDs__c":"782781006; C5190607; MEDGEN:1672817; MONDO:0017791; ORPHA:314029","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":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:314029","Disease_Description__c":"High bone mass osteogenesis imperfecta is a rare, genetic, primary bone dysplasia disorder characterized by increased bone fragility, manifesting with multiple, childhood-onset, vertebral and peripheral fractures, associated with increased bone mass density on radiometric examination. Patients typically present normal or mild short stature and dentinogenesis, hearing, and sclerae are commonly normal.","GARD_Name__c":"High bone mass osteogenesis imperfecta","GARD_Synonym__c":"high bone mass oi","Curated_Disease_Description_Source__c":"ORPHA:314029","Curated_Disease_Description__c":"High bone mass osteogenesis imperfecta is a rare, genetic, primary bone dysplasia disorder characterized by increased bone fragility, manifesting with multiple, childhood-onset, vertebral and peripheral fractures, associated with increased bone mass density on radiometric examination. Patients typically present normal or mild short stature and dentinogenesis, hearing, and sclerae are commonly normal.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:314029","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017791","ORPHANET_ID__c":"ORPHA:314029","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Osteogénesis imperfecta con aumento de la masa ósea","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"osteogénesis imperfecta con aumento de la masa ósea","Spanish_GARD_Synonym__c":"oi con aumento de la masa ósea","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":"High bone mass osteogenesis imperfecta is a rare, genetic, primary bone dysplasia disorder characterized by increased bone fragility, manifesting with multiple, childhood-onset, vertebral and peripheral fractures, associated with increased bone mass density on radiometric examination. Patients typically present normal or mild short stature and dentinogenesis, hearing, and sclerae are commonly normal.","Curated_Disease_Description_Source__c":"ORPHA:314029","GARD_Synonym__c":"high bone mass oi","Name":"High bone mass osteogenesis imperfecta","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Osteogenesis Imperfecta Foundation","Website__c":"https://oif.org/"}],"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:314029"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1672817","Source__c":"C5190607","Xref__c":"MEDGEN:1672817"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5190607","Source__c":"C5190607","Xref__c":"C5190607"},{"URL__c":"https://www.orpha.net/en/disease/detail/314029","Source__c":"C5190607; MONDO:0017791; ORPHA:314029","Xref__c":"ORPHA:314029"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017791","Source__c":"GARD:0021366","Xref__c":"MONDO:0017791"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=782781006","Source__c":"C5190607","Xref__c":"782781006"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"BMP1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"COL1A2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/col1a2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"COL1A1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/col1a1","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":["high bone mass oi"]}