{ "id": 18462, "label": "osteonecrosis of genetic origin", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0018383", "properties": { "xrefs": [ "GARD:0021667", "MEDGEN:1842788", "Orphanet:399380", "UMLS:C5680035" ], "synonyms": [ "bone necrosis of genetic origin", "genetic osteonecrosis" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "An instance of osteonecrosis that is caused by a modification of the individual's genome." }, "isLeaf": false, "isRoot": false, "child_count": 12, "parents": [ { "id": 5714, "label": "hereditary disease", "isLeaf": false, "isRoot": false, "parents": [ 29382 ], "type_id": 0, "properties": { "xrefs": [ "DOID:630", "EFO:0000508", "ICD9:799.89", "MEDGEN:5527", "MESH:D030342", "NCIT:C3101", "SCTID:32895009", "UMLS:C0019247" ], "synonyms": [ "genetic condition", "genetic disease", "genetic disorder", "hereditary disease", "hereditary disease or disorder", "hereditary diseases", "inherited disease", "inherited genetic disease", "molecular disease", "Mendelian disease", "familial disorder", "inborn disorder" ], "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome." }, "child_count": 1925, "reference_id": "MONDO:0003847" }, { "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": 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": 10506, "label": "Gaucher disease type I", "isLeaf": true, "isRoot": false, "parents": [ 16880, 18295, 18454, 18462, 19753 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110957", "GARD:0002441", "MEDGEN:409531", "NANDO:1200057", "NANDO:2201210", "OMIM:230800", "Orphanet:77259", "SCTID:62201009", "UMLS:C1961835" ], "synonyms": [ "Gaucher disease type I", "Gaucher disease, noncerebral juvenile", "Gaucher's disease type I", "Gba deficiency", "acid Beta-glucosidase deficiency", "non-cerebral juvenile Gaucher disease", "Gaucher disease type 1", "Gaucher disease, type 1", "Gaucher disease, type I", "Gd 1" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, "child_count": 0, "reference_id": "MONDO:0009265" }, { "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": 13192, "label": "familial avascular necrosis of femoral head", "isLeaf": false, "isRoot": false, "parents": [ 18458, 18462 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010914", "MEDGEN:909851", "MESH:D005271", "NANDO:1200373", "NCIT:C35480", "OMIMPS:608805", "Orphanet:86820", "SCTID:715657008", "UMLS:C4275066", "icd11.foundation:1216860745" ], "synonyms": [ "aseptic Necrosis of femoral head", "aseptic Necrosis of head of femur", "familial osteonecrosis of the femoral head", "ANFH", "ANFH1", "avascular NECROSIS of femoral head, primary", "avascular NECROSIS of femoral head, primary, 1", "avascular Necrosis of femoral head, primary, 1", "familial avascular necrosis of the femoral head", "femoral head, aseptic Necrosis of", "femoral head, avascular Necrosis of", "ischaemic Necrosis of femoral head", "ischemic Necrosis of femoral head", "osteonecrosis of femoral head", "primary avascular necrosis of the femoral head" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Avascular necrosis of femoral head (ANFH) is a severely disabling disease characterized by progressive groin pain, a limping gait, leg length discrepancy, collapse of the subchondral bone, limitation of hip function and eventual degeneration of the hip joint requiring total hip arthroplasty." }, "child_count": 4, "reference_id": "MONDO:0012126" }, { "id": 13951, "label": "pseudohypoparathyroidism type 1C", "isLeaf": true, "isRoot": false, "parents": [ 18458, 18462, 19473, 19702, 25052 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0051013", "GARD:0010681", "MEDGEN:420958", "MESH:C548076", "NANDO:1201077", "OMIM:612462", "Orphanet:79444", "SCTID:717792007", "UMLS:C2932716", "icd11.foundation:1401673748" ], "synonyms": [ "pseudohypoparathyroidism Ic", "PHP1C", "Php 1C", "pseudohypoparathyroidism, type 1C", "pseudohypoparathyroidism, type IC" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002118", "name": "urinary system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "A rare type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO), but normal activity of the stimulatory protein G (Gs alpha)." }, "child_count": 0, "reference_id": "MONDO:0012911" }, { "id": 14179, "label": "hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency", "isLeaf": true, "isRoot": false, "parents": [ 18454, 18462, 23980 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111903", "GARD:0017125", "MEDGEN:416465", "MESH:C567737", "OMIM:613116", "Orphanet:217467", "UMLS:C2751090", "icd11.foundation:1764310021" ], "synonyms": [ "hereditary thrombophilia due to congenital HRG deficiency", "thrombophilia 11 due to HRG deficiency", "THPH11", "thrombophilia due to elevated histidine-rich glycoprotein", "thrombophilia due to histidine-rich glycoprotein deficiency" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0013143" }, { "id": 14180, "label": "hereditary antithrombin deficiency", "isLeaf": true, "isRoot": false, "parents": [ 18454, 18462, 23980 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3755", "GARD:0006148", "ICD9:286.9", "MEDGEN:75781", "MESH:D020152", "NORD:791", "OMIM:613118", "Orphanet:82", "SCTID:36351005", "UMLS:C0272375" ], "synonyms": [ "AT3D", "Antithrombin Deficiency", "antithrombin 3 deficiency", "antithrombin III deficiency", "congenital AT-III deficiency", "congenital antithrombin III deficiency", "hereditary antithrombin deficiency", "hereditary thrombophilia due to congenital antithrombin 3 deficiency", "hereditary thrombophilia due to congenital antithrombin deficiency", "inherited antithrombin deficiency", "thrombophilia 7 due to antithrombin III deficiency", "thrombophilia due to antithrombin 3 deficiency", "thrombophilia due to antithrombin III deficiency" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A rare, genetic, hematological disease characterized by decreased levels of antithrombin activity in plasma resulting in impaired inactivation of thrombin and factor Xa. Patients have an increased risk for venous thromboembolism, usually in the deep veins of the arms, legs and pulmonary system and, on occasion, in other venous territories (e.g. cerebral veins or sinus, mesenteric, portal, hepatic, renal and/or retinal veins)." }, "child_count": 0, "reference_id": "MONDO:0013144" }, { "id": 17520, "label": "osteochondritis dissecans", "isLeaf": true, "isRoot": false, "parents": [ 18462 ], "type_id": 0, "properties": { "xrefs": [ "DOID:84", "GARD:0012703", "HP:0010886", "ICD10CM:M93.2", "ICD9:732.7", "MEDGEN:10494", "MESH:D010008", "MedDRA:10031231", "NCIT:C34878", "NORD:111730", "Orphanet:2764", "SCTID:82562007", "UMLS:C0029421", "icd11.foundation:467851106" ], "synonyms": [ "Koenig disease", "Konig disease", "König disease", "OD", "osteochondritis dissecans", "osteochondritis dissecans (disease)", "familial osteochondritis dissecans", "SSOAOD", "osteochondritis dissecans and short stature", "osteochondritis dissecans, short stature, and early-onset osteoarthritis", "short stature and advanced bone Age, with or without early-onset osteoarthritis and/Or osteochondritis Dissecans" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "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." }, "child_count": 0, "reference_id": "MONDO:0017178" }, { "id": 18461, "label": "epiphysiolysis of the hip", "isLeaf": true, "isRoot": false, "parents": [ 18462 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021666", "ICD10CM:M93.0", "MEDGEN:57704", "MESH:D060048", "OMIM:182260", "Orphanet:399329", "SCTID:26460006", "UMLS:C0149887" ], "synonyms": [ "SCFE", "SUFE", "SufE", "epiphysiolysis capitis femoris", "epiphysiolysis of the upper femur", "femoral head epiphysiolysis", "slipped capital femoral epiphysis", "slipped femoral capital epiphyses", "slipped upper femoral epiphysis" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Epiphysiolysis of the hip is a rare osteonecrosis disorder characterized by unilateral or bilateral disruption of the capital femoral physis with varying degrees of posterior epiphysis translation and simultaneous anterior metaphysis displacement. Patients typically present in pre-adolescence/adolescence with pain of variable intensity in varying locations (hip, groin, thigh, knee)." }, "child_count": 0, "reference_id": "MONDO:0018382" }, { "id": 24188, "label": "short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans", "isLeaf": true, "isRoot": false, "parents": [ 18462, 29322 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004133", "MEDGEN:777109", "OMIM:165800", "Orphanet:251262", "UMLS:C3665488" ], "synonyms": [ "OD", "SSOAOD", "osteochondritis dissecans and short stature", "osteochondritis dissecans, short stature, and early-onset osteoarthritis" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence." }, "child_count": 0, "reference_id": "MONDO:0100462" } ], "roots": [ { "id": 5714, "label": "hereditary disease" }, { "id": 7060, "label": "osteonecrosis" } ] }