{ "id": 18460, "label": "osteochondrosis", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0018381", "properties": { "xrefs": [ "DOID:8125", "GARD:0012704", "ICD10CM:M42", "ICD9:732.6", "MEDGEN:18216", "MESH:D055034", "NCIT:C34879", "Orphanet:399319", "SCTID:19579005", "UMLS:C0029429", "icd11.foundation:1446309782" ], "synonyms": [ "osteochondrosis not specified as adult or juvenile, of unspecified site", "osteochondritis", "osteochondritis juvenilis" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A condition that is characterized by defective bone growth that affects the growth centers of bone." }, "isLeaf": false, "isRoot": false, "child_count": 11, "parents": [ { "id": 7060, "label": "osteonecrosis", "isLeaf": false, "isRoot": false, "parents": [ 7061 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080008", "DOID:10159", "EFO:0004259", "GARD:0021657", "ICD10CM:M87", "ICD10WHO:M87", "ICD9:732.3", "ICD9:733.4", "ICD9:733.41", "ICD9:733.42", "ICD9:733.43", "ICD9:733.44", "ICD9:733.49", "MEDGEN:45249", "MESH:D010020", "NCIT:C34880", "NCIT:C35476", "NORD:1537", "Orphanet:399158", "SCTID:240196003", "UMLS:C0029445", "icd11.foundation:536467755" ], "synonyms": [ "bone necrosis", "ischaemic bone disease", "ischemic bone disease", "osteonecrosis" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A none disease characterized by death of bone tissue due to a lack of blood supply." }, "child_count": 7, "reference_id": "MONDO:0005380" } ], "children": [ { "id": 6062, "label": "Osgood-Schlatter disease", "isLeaf": true, "isRoot": false, "parents": [ 4665, 18460 ], "type_id": 0, "properties": { "xrefs": [ "DOID:7489", "GARD:0019364", "ICD10CM:M92.52", "ICD9:736.89", "MEDGEN:10489", "MedDRA:10031130", "NCIT:C34874", "Orphanet:97335", "SCTID:430506003", "SCTID:72047008", "UMLS:C0029376" ], "synonyms": [ "Osgood-Schlatter disease", "Osgood-Schlatter's disease", "Osteochondrosis of the tibial tubercle", "aseptic necrosis of the tibial tubercle", "osteochondritis of the tibial tubercle" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Osteochondrosis of the growth plate near the tibial tuberosity." }, "child_count": 0, "reference_id": "MONDO:0004241" }, { "id": 9221, "label": "Legg-Calve-Perthes disease", "isLeaf": true, "isRoot": false, "parents": [ 18460, 18462, 29221 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14415", "GARD:0006874", "MEDGEN:730669", "MESH:D007873", "MedDRA:10034735", "NCIT:C34766", "NORD:1353", "OMIM:150600", "Orphanet:2380", "SCTID:15739006", "UMLS:C1442965" ], "synonyms": [ "Legg Calvé Perthes Disease", "Legg-CALVE-Perthes disease", "Legg-Calve-Perthes disease", "Legg-Calve-Perthes symptom", "Legg-Calve-Perthes syndrome", "Legg-Calvé-Perthes disease", "Legg-Perthes disease", "Osteochondrosis of the capital femoral epiphysis", "Perthe's disease", "Perthes disease", "aseptic necrosis of the capital femoral epiphysis", "osteochondritis of the capital femoral epiphysis", "LCPD", "Lcp", "osteochondritis deformans" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "A hip region disease that is characterized by uni- or bilateral avascular necrosis (AVN) of the femoral head in children. In a small percentage of cases, mutations in the COL2A1 gene were found to be responsible." }, "child_count": 0, "reference_id": "MONDO:0007885" }, { "id": 9454, "label": "Thiemann disease, familial form", "isLeaf": true, "isRoot": false, "parents": [ 18460, 18462 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004131", "ICD9:716.84", "MEDGEN:82674", "MESH:C537144", "OMIM:165700", "Orphanet:3314", "SCTID:55166000", "UMLS:C0264081", "icd11.foundation:67016273" ], "synonyms": [ "Osteochondrosis of phalangeal epiphyses", "aseptic necrosis of phalangeal epiphyses", "osteochondritis of phalangeal epiphyses", "THIEMANN disease", "Thiemann epiphyseal disease", "Thiemann's disease", "osteoarthropathy of fingers familial", "osteoarthropathy of fingers, familial" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Thiemann disease is a very rare genetic necrotic bone disorder characterized clinically by painless swelling of the proximal interphalangeal joints associated with osteonecrosis of epiphyses followed by osteoarthritic changes, with onset before 25 years of age and often a benign course." }, "child_count": 0, "reference_id": "MONDO:0008142" }, { "id": 9707, "label": "Scheuermann disease", "isLeaf": true, "isRoot": false, "parents": [ 18460, 18462 ], "type_id": 0, "properties": { "xrefs": [ "DOID:13300", "ICD9:732.0", "MEDGEN:19885", "MESH:D012544", "NCIT:C34999", "OMIM:181440", "Orphanet:3135", "SCTID:53406005", "UMLS:C0036310" ], "synonyms": [ "Calve's disease", "Scheuermann disease", "Scheuermann's disease", "familial Scheuermann juvenile kyphosis", "familial spinal osteochondrosis", "juvenile osteochondrosis of spine", "Scheuermann juvenile kyphosis", "Scheuermann kyphosis", "familial Scheuermann disease", "juvenile kyphosis", "spinal Osteochondrosis" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A disorder characterized by osteochondrosis of the vertebral epiphyses in childhood." }, "child_count": 0, "reference_id": "MONDO:0008410" }, { "id": 11313, "label": "dihydropyrimidine dehydrogenase deficiency", "isLeaf": true, "isRoot": false, "parents": [ 18460, 18462, 19102 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14218", "GARD:0000019", "ICD9:277.2", "MEDGEN:409522", "MESH:D054067", "MedDRA:10052622", "NCIT:C84672", "OMIM:274270", "Orphanet:1675", "SCTID:77365006", "UMLS:C1959620", "icd11.foundation:701689290" ], "synonyms": [ "DYPD deficiency", "dihydropyrimidine dehydrogenase deficiency", "dihydrouracil dehydrogenase deficiency", "familial pyrimidinaemia", "familial pyrimidinemia", "thymine-uracilurea", "DPD deficiency", "Dpyd deficiency", "hereditary thymine-uraciluria", "pyrimidinemia, familial", "thymine-Uraciluria, hereditary" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Dihydropyrimidine dehydrogenase (DPD) deficiency isaconditionin which the body cannot break down the nucleotides thymine and uracil. DPD deficiency can have a wide range of severity; some individuals may have various neurological problems, while others have no signsand symptoms. Signs and symptoms in severely affected individuals begin in infancy and may include seizures, intellectual disability, microcephaly, increased muscle tone (hypertonia), delayed motor skills, and autistic behavior. All individuals with the condition, regardless of the presence or severity of symptoms, are at risk for severe, toxic reactions to drugs called fluoropyrimidines which are used to treat cancer. Individuals with no symptoms may be diagnosed only by laboratory testing or after exposure to fluoropyrimidines. DPD deficiency is caused by mutations in the DPYD gene and is inherited in an autosomal recessive manner." }, "child_count": 0, "reference_id": "MONDO:0010130" }, { "id": 16713, "label": "osteochondritis of tarsal/metatarsal bone", "isLeaf": true, "isRoot": false, "parents": [ 18460 ], "type_id": 0, "properties": { "xrefs": [ "DOID:11760", "GARD:0006842", "ICD9:732.5", "MEDGEN:510539", "Orphanet:2054", "Orphanet:563991", "SCTID:203392007", "UMLS:C0158444" ], "synonyms": [ "Kohler disease", "Kohler's disease", "Osteochondrosis of the tarsal bone", "aseptic necrosis of the tarsal bone", "juvenile osteochondrosis of foot", "osteochondritis of tarsal/metatarsal bone", "Kohler's Osteochondrosis of the tarsal navicular", "Kohler's disease of the tarsal navicular", "navicular Osteochondrosis" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A rare bone disease characterized by avascular necrosis of the navicular bone in children. Patients present with sudden unexplained foot pain, inability to bear weight, and limping. Radiographic features include flattening, fragmentation, and patchy sclerosis of the navicular bone. Soft tissue swelling may be associated. The condition is most commonly unilateral and self-limiting. Boys are more often affected than girls." }, "child_count": 0, "reference_id": "MONDO:0016086" }, { "id": 18852, "label": "medial condensing osteitis of the clavicle", "isLeaf": true, "isRoot": false, "parents": [ 18460 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010910", "MEDGEN:1710994", "Orphanet:57196", "UMLS:C5396729" ], "synonyms": [ "condensing osteitis of the clavicle", "condensing osteitis of the medial clavicle", "osteitis condensans of the clavicle" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0018929" }, { "id": 19680, "label": "Kienbock disease", "isLeaf": true, "isRoot": false, "parents": [ 18460 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0009690", "MEDGEN:44028", "MedDRA:10064242", "NORD:1332", "Orphanet:97332", "UMLS:C0022682" ], "synonyms": [ "Kienböck Disease", "Lunatomalacia", "Osteochondrosis of the lunate bone", "aseptic necrosis of the lunate bone", "osteochondritis of the lunate bone", "Kienbock's disease", "bilateral Kienbock's disease" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "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." }, "child_count": 0, "reference_id": "MONDO:0019967" }, { "id": 19681, "label": "panner disease", "isLeaf": true, "isRoot": false, "parents": [ 18460 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019365", "MEDGEN:1673235", "Orphanet:97336", "UMLS:C4759831" ], "synonyms": [ "Osteochondrosis of the capital humerus", "aseptic necrosis of the capital humerus" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Panner's disease is an osteochondrosis of the capitellum of the humerus, characterized by involvement of the dominant upper limb and onset before the age of 10 years. It results from lateral compression injuries of the elbow typically occurring in children practicing sports such as baseball and throw. It should be distinguished from osteochondritis dissecans of the capitellum, occurring later, in adolescents. Management is symptomatic and consists in reducing the activities of the affected elbow for a prolonged period of time. Prognosis is good." }, "child_count": 0, "reference_id": "MONDO:0019969" }, { "id": 19682, "label": "Sinding-Larsen-Johansson disease", "isLeaf": true, "isRoot": false, "parents": [ 18460 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019366", "MEDGEN:1672493", "MedDRA:10063585", "Orphanet:97337", "UMLS:C1504517", "icd11.foundation:1733785551" ], "synonyms": [ "Osteochondrosis of patella", "aseptic necrosis of patella" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Sinding-Larsen-Johansson disease is a type of osteochondrosis affecting the attachment of the patellar tendon to the patella and characterized by tenderness and localized swelling of the patella." }, "child_count": 0, "reference_id": "MONDO:0019970" }, { "id": 21173, "label": "Freiberg disease", "isLeaf": true, "isRoot": false, "parents": [ 4370, 18460 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002380", "MEDGEN:75532", "MESH:C535636", "Orphanet:564003", "SCTID:28466007", "UMLS:C0264099", "icd11.foundation:74359553" ], "synonyms": [ "Freiberg's disease", "Freiberg's infraction", "Freiberg-Kohler syndrome", "Kohler's second disease", "Osteochondrosis of the metatarsal head, usually the second", "second metatarsal osteochondrosis" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Freiberg's disease is rare condition that primarily affects the second or third metatarsal (the long bones of the foot). Although people of all ages can be affected by this condition, Freiberg's disease is most commonly diagnosed during adolescence through the second decade of life. Common signs and symptoms include pain and stiffness in the front of the foot, which often leads to a limp. Affected people may also experience swelling, limited range of motion, and tenderness of the affected foot. Symptoms are generally triggered by weight-bearing activities, including walking. The exact underlying cause of Freiberg's disease is currently unknown. Treatment depends on many factors, including the severity of condition; the signs and symptoms present; and the age of the patient." }, "child_count": 0, "reference_id": "MONDO:0023188" } ], "roots": [ { "id": 7060, "label": "osteonecrosis" } ] }