{"Name":"Idiopathic juvenile osteoporosis","DiseaseID__c":"GARD:0006760","id":6760,"encodedName":"idiopathic-juvenile-osteoporosis","IsDeleted":false,"Disease_Name_Full__c":"Idiopathic juvenile osteoporosis","Xref_IDs__c":"3345002; C0264080; C119996; C537700; DOID:12559; MEDGEN:120494; MONDO:0019409; OMIM:259750; ORPHA:85193","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0019409","Disease_Description__c":"Idiopathic juvenile osteoporosis (IJO) is a primary condition of bone demineralization that presents with pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis.","GARD_Name__c":"Idiopathic juvenile osteoporosis","GARD_Synonym__c":"idiopathic osteoporosis; ijo; juvenile osteoporosis; paediatric osteoporosis; pediatric osteoporosis","Curated_Disease_Description_Source__c":"GARD:0006760","Curated_Disease_Description__c":"Juvenile primary osteoporosis is a skeletal disorder characterized by thinning of the bones (osteoporosis) that begins in childhood. Osteoporosis is caused by a shortage of calcium and other minerals in bones (decreased bone mineral density), which makes the bones brittle and prone to fracture. Affected individuals often have multiple fractures in the long bones of the arms and legs, especially in the regions where new bone forms (metaphyses). They also have fractures in the bones that form the spine (vertebrae), which can cause collapse of the affected vertebrae (compressed vertebrae). Multiple fractures can cause bone pain and lead to movement problems.","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:85193","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019409","ORPHANET_ID__c":"ORPHA:85193","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Osteoporosis juvenil idiopática","Spanish_Description_Source__c":"ORPHA:85193","Spanish_Description__c":"La osteoporosis juvenil idiopática (IJO) es una condición primaria de desmineralización del hueso, caracterizada por dolor en la espalda y en las extremidades, dificultades al andar, fracturas múltiples y evidencia radiológica de osteoporosis.","Spanish_Disease_Name__c":"osteoporosis juvenil idiopática","Spanish_GARD_Synonym__c":"oji; osteoporosis juvenil","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":"Juvenile primary osteoporosis is a skeletal disorder characterized by thinning of the bones (osteoporosis) that begins in childhood. Osteoporosis is caused by a shortage of calcium and other minerals in bones (decreased bone mineral density), which makes the bones brittle and prone to fracture. Affected individuals often have multiple fractures in the long bones of the arms and legs, especially in the regions where new bone forms (metaphyses). They also have fractures in the bones that form the spine (vertebrae), which can cause collapse of the affected vertebrae (compressed vertebrae). Multiple fractures can cause bone pain and lead to movement problems.","Curated_Disease_Description_Source__c":"GARD:0006760","GARD_Synonym__c":"idiopathic osteoporosis; ijo; juvenile osteoporosis; paediatric osteoporosis; pediatric osteoporosis","Name":"Idiopathic juvenile osteoporosis","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Osteoporosis Foundation","Website__c":"http://www.nof.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":"Rheumatology","Tag_Category__c":"Specialist"},{"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:85193"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:85193"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0006760","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537700","Source__c":"MONDO:0019409","Xref__c":"C537700"},{"URL__c":"https://www.omim.org/entry/259750","Source__c":"C0264080; MONDO:0019409","Xref__c":"OMIM:259750"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A12559","Source__c":"MONDO:0019409","Xref__c":"DOID:12559"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0264080","Source__c":"C0264080","Xref__c":"C0264080"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=120494","Source__c":"C0264080","Xref__c":"MEDGEN:120494"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C119996","Source__c":"C0264080; MONDO:0019409","Xref__c":"C119996"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=3345002","Source__c":"MONDO:0019409","Xref__c":"3345002"},{"URL__c":"https://www.orpha.net/en/disease/detail/85193","Source__c":"C0264080; MONDO:0019409; ORPHA:85193","Xref__c":"ORPHA:85193"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019409","Source__c":"GARD:0006760","Xref__c":"MONDO:0019409"},{"URL__c":"https://www.niams.nih.gov/health-topics/juvenile-osteoporosis"}],"Inheritance__c":["Non-Mendelian inheritance"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:85193","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002653","HPO_Synonym__c":"Bone pain","HPO_Name__c":"Bone pain","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85193","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000939","HPO_Name__c":"Osteoporosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85193","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Exaggerated anterior convexity of the thoracic vertebral column.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002808","HPO_Synonym__c":"Gibbus deformity; Hunched back; Hyperkyphosis; Round back","HPO_Name__c":"Kyphosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85193","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The term gait disturbance can refer to any disruption of the ability to walk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001288","HPO_Synonym__c":"Abnormal gait; Abnormal walk; Difficulty in walking; Gait abnormalities; Gait difficulties; Gait disturbances; Impaired gait; Walking disability","HPO_Name__c":"Gait disturbance","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85193","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002953","HPO_Synonym__c":"Compression fracture of a vertebral body; Fractures of vertebral bodies; Vertebral body compression; Vertebral collapse; Vertebral compression; Vertebral compression fractures; Vertebral compression or collapse","HPO_Name__c":"Vertebral compression fracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85193","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002757","HPO_Synonym__c":"Frequent fractures; Increased fracture rate; Increased fractures; Multiple fractures; Multiple spontaneous fractures; Recurrent fractures; Varying degree of multiple fractures","HPO_Name__c":"Recurrent fractures","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Rheumatology","Orthopedics","Pediatrics"]},"synonyms":["idiopathic osteoporosis"," ijo"," juvenile osteoporosis"," paediatric osteoporosis"," pediatric osteoporosis"]}