{"Name":"Morbus Kienboeck","DiseaseID__c":"GARD:0009690","id":9690,"encodedName":"morbus-kienboeck","IsDeleted":false,"Disease_Name_Full__c":"Morbus Kienboeck","Xref_IDs__c":"C0022682; HP:0010889; MEDGEN:44028; MONDO:0019967; ORPHA:97332","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"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":3,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0019967","Disease_Description__c":"Kienbock disease is a rare bone disorder of unknown etiology characterized clinically by osteonecrosis of the carpal lunate, eventually leading to collapse of the lunate bone impacting wrist function.","GARD_Name__c":"Morbus Kienboeck","GARD_Synonym__c":"aseptic necrosis of the lunate bone; bilateral kienbock's disease; keinbock disease; keinbock's disease; kienbock disease; kienboeck's disease; kienböck disease; kienböck's disease; lunatomalacia; osteochondritis of the lunate bone; osteochondrosis of the lunate bone; progressive avascular necrosis of lunate; progressive avascular necrosis of the lunate bone","Curated_Disease_Description_Source__c":"GARD:0009690","Curated_Disease_Description__c":"Kienbock's disease causes one of the bones in the wrist (lunate bone) to slowly break down due to low blood supply. This process is called osteonecrosis. Symptoms include pain, swelling, limited movement, and decreased grip strength. The symptoms usually start in adulthood, but can occur at any age. The underlying cause of Kienbock's disease is unknown. Diagnosis is made by imaging studies.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:97332","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019967","ORPHANET_ID__c":"ORPHA:97332","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de kienbock","Spanish_Description_Source__c":"ORPHA:97332","Spanish_Description__c":"La enfermedad de Kienbock es un trastorno óseo poco frecuente y de etiología desconocida que se caracteriza clínicamente por osteonecrosis del semilunar carpiano, lo que finalmente conduce al colapso del hueso semilunar afectando a la función de la muñeca.","Spanish_Disease_Name__c":"enfermedad de kienbock","Spanish_GARD_Synonym__c":"lunatomalacia; necrosis aséptica del hueso semilunar; necrosis avascular progresiva del hueso semilunar; osteocondrosis del hueso semilunar","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":"Kienbock's disease causes one of the bones in the wrist (lunate bone) to slowly break down due to low blood supply. This process is called osteonecrosis. Symptoms include pain, swelling, limited movement, and decreased grip strength. The symptoms usually start in adulthood, but can occur at any age. The underlying cause of Kienbock's disease is unknown. Diagnosis is made by imaging studies.","Curated_Disease_Description_Source__c":"GARD:0009690","GARD_Synonym__c":"aseptic necrosis of the lunate bone; bilateral kienbock's disease; keinbock disease; keinbock's disease; kienbock disease; kienboeck's disease; kienböck disease; kienböck's disease; lunatomalacia; osteochondritis of the lunate bone; osteochondrosis of the lunate bone; progressive avascular necrosis of lunate; progressive avascular necrosis of the lunate bone","Name":"Morbus Kienboeck","estimateUsa":""}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Rheumatology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Orthopedics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:97332"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=44028","Source__c":"C0022682","Xref__c":"MEDGEN:44028"},{"URL__c":"https://www.orpha.net/en/disease/detail/97332","Source__c":"C0022682; MONDO:0019967; ORPHA:97332","Xref__c":"ORPHA:97332"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0022682","Source__c":"C0022682","Xref__c":"C0022682"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019967","Source__c":"GARD:0009690","Xref__c":"MONDO:0019967"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0010889","Source__c":"C0022682","Xref__c":"HP:0010889"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=787484007","Source__c":"C0022682","Xref__c":"787484007"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:97332","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Degeneration (wear and tear) of articular cartilage, i.e., of the joint surface. Joint degeneration may be accompanied by osteophytes (bone overgrowth), narrowing of the joint space, regions of sclerosis at the joint surface, or joint deformity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002758","HPO_Synonym__c":"Degenerative joint disease","HPO_Name__c":"Osteoarthritis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:97332","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A joint disorder caused by blood deprivation in the subchondral bone causing the subchondral bone to die in a process called avascular necrosis. The bone is then reabsorbed by the body, leaving the articular cartilage it supported prone to damage. The result is fragmentation (dissection) of both cartilage and bone, and the free movement of these osteochondral fragments within the joint space, causing pain and further damage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010886","HPO_Synonym__c":"Osteochondrosis dissecans","HPO_Name__c":"Osteochondritis dissecans","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:97332","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormality of the wrist, the structure connecting the hand and the forearm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003019","HPO_Synonym__c":"Abnormalities of the wrists; Abnormality of the wrist","HPO_Name__c":"Abnormality of the wrist","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:97332","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction in the freedom of movement of one or more joints.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001376","HPO_Synonym__c":"Decreased joint mobility; Decreased mobility of joints; Limitation of joint mobility; Limited joint mobility; Limited joint motion","HPO_Name__c":"Limitation of joint mobility","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:97332","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010885","HPO_Synonym__c":"Aseptic bone necrosis; Aseptic necrosis; Bone infarction; Death of bone due to decreased blood supply; Ischemic bone necrosis; Osteochondronecrosis; Osteonecrosis","HPO_Name__c":"Avascular necrosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:97332","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Joint pain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002829","HPO_Synonym__c":"Arthralgias; Joint pain","HPO_Name__c":"Arthralgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:97332","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"}}],"tags":{"Specialist":["Rheumatology","Orthopedics"]},"synonyms":["aseptic necrosis of the lunate bone"," bilateral kienbock's disease"," keinbock disease"," keinbock's disease"," kienbock disease"," kienboeck's disease"," kienböck disease"," kienböck's disease"," lunatomalacia"," osteochondritis of the lunate bone"," osteochondrosis of the lunate bone"," progressive avascular necrosis of lunate"," progressive avascular necrosis of the lunate bone"]}