{"Name":"Osteochondritis dissecans","DiseaseID__c":"GARD:0012703","id":12703,"encodedName":"osteochondritis-dissecans","IsDeleted":false,"Disease_Name_Full__c":"Osteochondritis dissecans","Xref_IDs__c":"82562007; C0029421; C34878; D010008; DOID:84; HP:0010886; M93.2; MEDGEN:10494; MONDO:0017178; ORPHA:2764","USA_Estimate__c":"200,000","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":"800,000 to 5,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0017178","Disease_Description__c":"Osteochondritis dissecans (OCD) is a rare bone disease characterized by an acquired idiopathic necrotic lesion of subchondral bone with the formation of a sequestrum, which may detach to form loose bodies in joints. OCD mainly affects the knee, ankle and elbow joints and can lead to pain, functional limitations and secondary osteoarthritis.","GARD_Name__c":"Osteochondritis dissecans","GARD_Synonym__c":"koenig disease; konig disease; könig disease; ocd; ocd - osteochondritis dissecans; od; od - osteochondritis dissecans; osteochondritis dissecans (disease); osteochondrosis dissecans","Curated_Disease_Description_Source__c":"GARD:0012703","Curated_Disease_Description__c":"Osteochondritis dissecans is a joint condition that occurs when a piece of cartilage and the thin layer of bone beneath it, separates from the end of the bone. If the piece of cartilage and bone remain close to where they detached, they may not cause any symptoms. However, affected people may experience pain, weakness and/or decreased range of motion in the affected joint if the cartilage and bone travel into the joint space. In most cases, the exact underlying cause is unknown. Rarely, the condition can affect more than one family member (called familial Osteochondritis dissecans); in these cases, Osteochondritis dissecans is caused by changes in the ACAN gene and is inherited in an autosomal dominant manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:2764","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017178","ORPHANET_ID__c":"ORPHA:2764","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Osteocondritis disecante","Spanish_Description_Source__c":"ORPHA:2764","Spanish_Description__c":"Es una enfermedad ósea poco frecuente caracterizada por una lesión necrótica idiopática y adquirida del hueso subcondral, con la formación de un secuestro que puede desprenderse para formar cuerpos libres en las articulaciones. Afecta principalmente a las articulaciones de rodilla, tobillo y codo, pudiendo provocar dolor, limitaciones funcionales y osteoartritis secundaria.","Spanish_Disease_Name__c":"osteocondritis disecante","Spanish_GARD_Synonym__c":"enfermedad de kônig","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":"Osteochondritis dissecans is a joint condition that occurs when a piece of cartilage and the thin layer of bone beneath it, separates from the end of the bone. If the piece of cartilage and bone remain close to where they detached, they may not cause any symptoms. However, affected people may experience pain, weakness and/or decreased range of motion in the affected joint if the cartilage and bone travel into the joint space. In most cases, the exact underlying cause is unknown. Rarely, the condition can affect more than one family member (called familial Osteochondritis dissecans); in these cases, Osteochondritis dissecans is caused by changes in the ACAN gene and is inherited in an autosomal dominant manner.","Curated_Disease_Description_Source__c":"GARD:0012703","GARD_Synonym__c":"koenig disease; konig disease; könig disease; ocd; ocd - osteochondritis dissecans; od; od - osteochondritis dissecans; osteochondritis dissecans (disease); osteochondrosis dissecans","Name":"Osteochondritis dissecans","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Rheumatology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:2764"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=10494","Source__c":"C0029421","Xref__c":"MEDGEN:10494"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C34878","Source__c":"C0029421; MONDO:0017178","Xref__c":"C34878"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A84","Source__c":"MONDO:0017178","Xref__c":"DOID:84"},{"URL__c":"https://www.orpha.net/en/disease/detail/2764","Source__c":"C0029421; MONDO:0017178; ORPHA:2764","Xref__c":"ORPHA:2764"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=82562007","Source__c":"C0029421; MONDO:0017178","Xref__c":"82562007"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C010008","Source__c":"C0029421; MONDO:0017178","Xref__c":"D010008"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0029421","Source__c":"C0029421","Xref__c":"C0029421"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017178","Source__c":"GARD:0012703","Xref__c":"MONDO:0017178"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0010886","Source__c":"C0029421","Xref__c":"HP:0010886"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/M93.2","Source__c":"MONDO:0017178","Xref__c":"M93.2"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2764","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Muscular atrophy involving the quadriceps muscle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009050","HPO_Synonym__c":"Wasting of quad muscles","HPO_Name__c":"Quadriceps muscle atrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2764","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced ability to move the femur outward to the side.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003184","HPO_Synonym__c":"Limited hip abduction","HPO_Name__c":"Decreased hip abduction","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2764","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:2764","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003088","HPO_Synonym__c":"Premature arthritis; Premature osteoarthritis","HPO_Name__c":"Premature osteoarthritis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2764","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Limited ability to straighten the arm at the elbow joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001377","HPO_Synonym__c":"Decreased elbow extension; Elbow limited extension; Limitation of elbow extension; Limited elbow extension; Limited extension at elbows; Limited forearm extension; Reduced elbow extension; Restricted elbow extension","HPO_Name__c":"Limited elbow extension","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2764","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000938","HPO_Synonym__c":"Generalized osteopenia","HPO_Name__c":"Osteopenia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2764","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the knee joint or surrounding structures.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002815","HPO_Synonym__c":"Abnormality of the knee","HPO_Name__c":"Abnormality of the knee","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2764","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001367","HPO_Synonym__c":"Abnormal shape of joints; Abnormality of the joints; Anomaly of the joints","HPO_Name__c":"Abnormal joint morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2764","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006376","HPO_Name__c":"Limited elbow flexion","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2764","HPO_Frequency__c":"Frequent (30-79%)","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:2764","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001382","HPO_Synonym__c":"Double-Jointed; Extensible joints; Flexible joints; Hyperextensible joints; Increased joint mobility; Increased mobility of joints; Joint hyperextensibility; Joint hyperflexibility; Joint hyperlaxity; Joint laxity; Joints move beyond expected range of motion; Lax joints; Loose-jointedness","HPO_Name__c":"Joint hypermobility","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2764","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:2764","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormality of the tibia (shinbone).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002992","HPO_Synonym__c":"Abnormality of the shankbone; Abnormality of the shinbone; Abnormality of tibia morphology","HPO_Name__c":"Abnormal tibia morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2764","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the function of the skeletal system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011843","HPO_Synonym__c":"Abnormality of musculoskeletal physiology","HPO_Name__c":"Abnormal musculoskeletal physiology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2764","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001387","HPO_Synonym__c":"Joint stiffness; Stiff joint; Stiff joints","HPO_Name__c":"Joint stiffness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2764","HPO_Frequency__c":"Occasional (5-29%)","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:2764","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001386","HPO_Synonym__c":"Joint swelling","HPO_Name__c":"Joint swelling","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2764","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Accumulation of excess fluid in the bone marrow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:6000917","HPO_Name__c":"Bone marrow edema","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Rheumatology","Orthopedics","Pediatrics"]},"synonyms":["koenig disease"," konig disease"," könig disease"," ocd"," ocd - osteochondritis dissecans"," od"," od - osteochondritis dissecans"," osteochondritis dissecans (disease)"," osteochondrosis dissecans"]}