{ "id": 18958, "label": "bone neoplasm", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0019060", "properties": { "xrefs": [ "EFO:0003820", "GARD:0018892", "ICD10CM:C40-C41", "MEDGEN:488993", "NCIT:C9343", "ONCOTREE:BONE", "Orphanet:68411", "UMLS:C2732838" ], "synonyms": [ "bone neoplasm", "bone neoplasms", "bone tissue neoplasm", "bone tissue tumor", "bone tissue tumour", "bone tumor", "bone tumors", "bone tumour", "bone tumours", "neoplasm of bone", "neoplasm of bone tissue", "neoplasm of the bone", "osseous neoplasm", "osseous tumor", "osseous tumour", "tumor of bone", "tumor of bone tissue", "tumor of the bone", "tumour of bone", "tumour of bone tissue", "tumour of the bone", "primary bone cancer", "primary malignant neoplasm of bone", "rare bone tumor", "rare bone tumour" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "A benign, intermediate, or malignant neoplasm involving the bone or articular cartilage." }, "isLeaf": false, "isRoot": false, "child_count": 20, "parents": [ { "id": 7061, "label": "bone disorder", "isLeaf": false, "isRoot": false, "parents": [ 6893 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080001", "EFO:0004260", "ICD10CM:M80-M85", "ICD9:731.8", "ICD9:733.99", "MEDGEN:14182", "MESH:D001847", "NANDO:2100291", "NANDO:2100293", "SCTID:76069003", "UMLS:C0005940" ], "synonyms": [ "bone element disease", "bone element disease or disorder", "disease of bone element", "disease or disorder of bone element", "disorder of bone element", "rare bone disease related to a common gene or pathway defect" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Diseases of bones." }, "child_count": 27, "reference_id": "MONDO:0005381" }, { "id": 20678, "label": "connective tissue neoplasm", "isLeaf": false, "isRoot": false, "parents": [ 5762, 6798 ], "type_id": 0, "properties": { "xrefs": [ "ICD9:239.2", "MEDGEN:45035", "MESH:D009372", "SCTID:126598008", "UMLS:C0027656" ], "synonyms": [ "connective tissue neoplasm", "connective tissue neoplasm (disease)", "connective tissue tumor", "connective tissue tumour", "neoplasm of connective tissue", "neoplasm of connective tissues", "tumor of connective tissue", "tumour of connective tissue", "connective tissue neoplasms", "neoplasm, connective tissue" ], "categories": [ { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "Neoplasms composed of connective tissue, including elastic, mucous, reticular, osseous, and cartilaginous tissue. The concept does not refer to neoplasms located in connective tissue." }, "child_count": 26, "reference_id": "MONDO:0021581" } ], "children": [ { "id": 3036, "label": "bone benign neoplasm", "isLeaf": false, "isRoot": false, "parents": [ 3054, 18958 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060094", "GARD:0022813", "ICD9:213.9", "MEDGEN:146337", "NCIT:C4880", "SCTID:92027006", "UMLS:C0684516" ], "synonyms": [ "benign bone neoplasm", "benign bone tumor", "benign bone tumour", "benign neoplasm of bone", "benign neoplasm of the bone", "benign osseous neoplasm", "benign osseous tumor", "benign osseous tumour", "benign tumor of bone", "benign tumor of the bone", "benign tumour of bone", "benign tumour of the bone", "bone tissue benign neoplasm" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "A neoplasm that arises from the bone or articular cartilage and does not invade adjacent tissues or metastasize to other anatomic sites." }, "child_count": 38, "reference_id": "MONDO:0000631" }, { "id": 4262, "label": "bone cancer", "isLeaf": false, "isRoot": false, "parents": [ 3041, 18958 ], "type_id": 0, "properties": { "xrefs": [ "CSP:2019-1041", "DOID:184", "EFO:1000350", "GARD:0023070", "ICD9:170.9", "MEDGEN:79002", "MESH:D001859", "NCIT:C4016", "SCTID:428281000", "UMLS:C0279530" ], "synonyms": [ "bone neoplasm", "bone tumor", "bone tumour", "osseous tumor", "osseous tumour", "bone cancer", "cancer of bone", "cancer of skeletal element", "cancer of the bone", "malignant bone neoplasm", "malignant bone tumor", "malignant neoplasm of bone", "malignant neoplasm of skeletal element", "malignant neoplasm of the bone", "malignant osseous neoplasm", "malignant osseous tumor", "malignant osseous tumour", "malignant skeletal element neoplasm", "malignant tumor of bone", "malignant tumor of the bone", "malignant tumour of bone", "malignant tumour of the bone", "osseous cancer", "skeletal element cancer" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "A primary or metastatic malignant neoplasm affecting the bone or articular cartilage." }, "child_count": 24, "reference_id": "MONDO:0002129" }, { "id": 4653, "label": "notochordal tumor", "isLeaf": false, "isRoot": false, "parents": [ 7212, 18958 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3303", "GARD:0023181", "MEDGEN:233252", "NCIT:C7063", "UMLS:C1335069" ], "synonyms": [ "cancer of notochord", "malignant neoplasm of notochord", "malignant notochord neoplasm", "neoplasm of notochord", "notochord cancer", "notochord neoplasm", "notochord tumor", "notochord tumour", "notochordal neoplasm", "notochordal tumor", "tumor of notochord", "tumour of notochord", "notochordal cancer" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "A bone tumor arising from the remnants of the fetal notochord. This category includes the chordoma and benign notochordal cell tumor." }, "child_count": 2, "reference_id": "MONDO:0002597" }, { "id": 7164, "label": "hereditary multiple osteochondromas", "isLeaf": false, "isRoot": false, "parents": [ 4304, 16218, 18958, 21247 ], "type_id": 0, "properties": { "xrefs": [ "DOID:206", "GARD:0007035", "MEDGEN:4612", "MESH:D005097", "NANDO:2200049", "NANDO:2201014", "NANDO:2201015", "NCIT:C5183", "NORD:1233", "OMIMPS:133700", "Orphanet:321", "SCTID:254044004", "SCTID:716742001", "UMLS:C0015306", "icd11.foundation:146330302", "icd11.foundation:1578364807" ], "synonyms": [ "Bessel-Hagen disease", "exostoses, multiple", "multiple cartilaginous exostoses", "osteochondromatosis syndrome", "osteochondromatosis syndrome (disorder) [ambiguous]", "hereditary multiple exostoses 1", "hereditary multiple exostoses 2", "hereditary multiple exostoses 3", "EXT", "HMO", "hereditary multiple exostoses", "hereditary multiple exostosis", "multiple exostoses" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "A bone neoplasm characterized by development of two or more cartilage capped bony outgrowths (osteochondromas) of the long bones." }, "child_count": 12, "reference_id": "MONDO:0005508" }, { "id": 8610, "label": "diaphyseal medullary stenosis-bone malignancy syndrome", "isLeaf": true, "isRoot": false, "parents": [ 18360, 18958, 21247, 24863 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080664", "GARD:0010072", "MEDGEN:350613", "NCIT:C122660", "OMIM:112250", "Orphanet:85182", "UMLS:C1862177" ], "synonyms": [ "DMS-MFH", "Hardcastle syndrome", "Hardcastle's syndrome", "bone dysplasia-medullary fibrosarcoma syndrome", "diaphyseal medullary stenosis-bone malignancy syndrome", "diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome", "BDMF", "DMSMFH", "bone dysplasia with malignant fibrous histiocytoma", "bone dysplasia with medullary fibrosarcoma", "diaphyseal medullary stenosis with malignant fibrous histiocytoma", "myopathy, limb-girdle, with bone fragility" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma)." }, "child_count": 0, "reference_id": "MONDO:0007205" }, { "id": 9116, "label": "hyperparathyroidism 1", "isLeaf": true, "isRoot": false, "parents": [ 16003, 18958, 21247, 24807 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018253", "MEDGEN:333554", "MESH:C564166", "OMIM:145000", "UMLS:C1840402" ], "synonyms": [ "hyperparathyroidism 1", "hyperparathyroidism type 1", "hyperparathyroidism, familial primary", "HRPT1", "hyperparathyroidism, familial isolated primary", "parathyroid adenoma, familial" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0007767" }, { "id": 9117, "label": "hyperparathyroidism 2 with jaw tumors", "isLeaf": true, "isRoot": false, "parents": [ 16218, 16897, 18958, 21247, 24807 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010829", "MEDGEN:310065", "NCIT:C48287", "OMIM:145001", "Orphanet:99880", "SCTID:702378002", "UMLS:C1704981" ], "synonyms": [ "HPT-JT", "hyperparathyroidism 2 with jaw tumors", "hyperparathyroidism type 2", "hyperparathyroidism-2", "hyperparathyroidism-jaw tumor syndrome", "hyperparathyroidism-jaw tumour syndrome", "parathyroid adenoma with cystic changes", "HRPT2", "familial primary hyperparathyroidism with multiple ossifying jaw fibromas", "hereditary hyperparathyroidism-jaw tumor syndrome", "hereditary hyperparathyroidism-jaw tumour syndrome", "hyperparathyroidism 2", "hyperparathyroidism, familial primary, with multiple ossifying jaw fibromas", "hyperparathyroidism-jaw tumor syndrome, hereditary", "hyperparathyroidism-jaw tumour syndrome, hereditary", "parathyroid adenomatosis, familial cystic" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "An autosomal dominant inherited syndrome characterized by the development of parathyroid adenoma or carcinoma, ossifying fibroma of the mandible and maxilla, renal neoplasms, and renal cysts." }, "child_count": 0, "reference_id": "MONDO:0007768" }, { "id": 9451, "label": "OSLAM syndrome", "isLeaf": true, "isRoot": false, "parents": [ 18956, 18958 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004129", "MEDGEN:331588", "MESH:C537138", "OMIM:165660", "Orphanet:2760", "SCTID:733064004", "UMLS:C1833792" ], "synonyms": [ "OSLAM syndrome", "osteosarcoma-limb anomalies-erythroid macrocytosis syndrome", "osteosarcoma, limb anomalies (clinodactyly, absence of digital ray in foot, bilateral radioulnar synostosis) and macrocytosis without anaemia", "osteosarcoma, limb anomalies (clinodactyly, absence of digital ray in foot, bilateral radioulnar synostosis) and macrocytosis without anemia", "osteosarcoma, limb anomalies, and erythroid macrocytosis with megaloblastic marrow", "osteosarcoma, limb anomalies, and macrocytosis" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "OSLAM syndrome is characterized by the association of osteosarcoma, limb anomalies (clinodactyly with brachymesophalangy, bilateral radioulnar synostosis and absence of one digital ray of the foot) and red cell macrocytosis without anemia." }, "child_count": 0, "reference_id": "MONDO:0008139" }, { "id": 9456, "label": "Ollier disease", "isLeaf": true, "isRoot": false, "parents": [ 18360, 18958, 21247 ], "type_id": 0, "properties": { "xrefs": [ "DOID:4624", "GARD:0007251", "ICD10CM:Q78.4", "MEDGEN:41775", "MedDRA:10014642", "NANDO:2200049", "NANDO:2201015", "NCIT:C3008", "NORD:1526", "OMIM:166000", "Orphanet:296", "SCTID:268274005", "UMLS:C0014084", "icd11.foundation:1648299787" ], "synonyms": [ "Ollier disease", "Ollier type enchondromatosis", "Ollier's disease", "dyschondroplasia", "osteochondromatosis", "enchondromatosis", "enchondromatosis, multiple, Ollier type", "multiple cartilaginous enchondroses", "multiple enchondromatosis" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "A rare primary bone dysplasia disorder characterized by the development of multiple mainly unilateral or asymmetrically distributed enchondromas throughout the metaphyses of the long bones." }, "child_count": 0, "reference_id": "MONDO:0008145" }, { "id": 10629, "label": "neonatal severe primary hyperparathyroidism", "isLeaf": true, "isRoot": false, "parents": [ 16897, 18958, 21247, 24807 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002838", "MEDGEN:331326", "MESH:C563375", "NCIT:C131853", "OMIM:239200", "Orphanet:417", "SCTID:715218009", "UMLS:C1832615", "icd11.foundation:1929875111" ], "synonyms": [ "NSHPT", "hyperparathyroidism, neonatal", "Nsph", "hyperparathyroidism, neonatal severe", "hyperparathyroidism, neonatal severe primary", "neonatal severe hyperparathyroidism" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism." }, "child_count": 0, "reference_id": "MONDO:0009397" }, { "id": 13457, "label": "hyperparathyroidism 3", "isLeaf": true, "isRoot": false, "parents": [ 16003, 18958, 21247, 24807 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018255", "MEDGEN:355277", "MESH:C566450", "OMIM:610071", "UMLS:C1864729" ], "synonyms": [ "HRPT3", "hyperparathyroidism 3", "hyperparathyroidism, familial isolated" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0012406" }, { "id": 16703, "label": "juvenile hyaline fibromatosis", "isLeaf": true, "isRoot": false, "parents": [ 4409, 7941, 10472, 18958, 21247, 23867 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016583", "ICD9:733.29", "MEDGEN:411197", "NCIT:C98297", "Orphanet:2028", "SCTID:238861002", "UMLS:C2745948", "icd11.foundation:1890146024" ], "synonyms": [ "Molluscum fibrosum", "Murray-Puretic-Drescher syndrome", "Puretic syndrome", "mesenchymal dysplasia" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "Juvenile hyaline fibromatosis (JHF) is a rare soft tissue tumor, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, gingival hypertrophy, joint contractures, and osteolytic bone lesions in variable degrees. Joint contractures may cripple patients and delay normal motor development if occurring in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. JHF is a mild form of infantile systemic hyalinosis." }, "child_count": 0, "reference_id": "MONDO:0016071" }, { "id": 18759, "label": "aneurysmal bone cyst", "isLeaf": true, "isRoot": false, "parents": [ 18958, 21247 ], "type_id": 0, "properties": { "xrefs": [ "EFO:1001760", "GARD:0021982", "HP:0012063", "ICD10CM:M85.5", "ICD9:733.22", "MEDGEN:57758", "MESH:D017824", "NCIT:C3516", "OMIM:606179", "Orphanet:480553", "SCTID:203468000", "UMLS:C0152244", "icd11.foundation:1603788294" ], "synonyms": [ "ABC", "aneurysmal bone cyst", "aneurysmal bone cyst (disease)", "aneurysmal bone cysts", "aneurysmal cyst of bone", "aneurysmal cyst of the bone" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "A locally aggressive and destructive benign cystic lesion of the bone. It is characterized by the formation of multiloculated hemorrhagic cystic spaces which are separated by fibrous septa. It can arise from any bone, but usually affects the metaphysis of long bones. It manifests with pain and swelling and may recur following curettage." }, "child_count": 0, "reference_id": "MONDO:0018815" }, { "id": 19206, "label": "solitary bone cyst", "isLeaf": true, "isRoot": false, "parents": [ 18958 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019039", "ICD10CM:M85.4", "ICD9:733.21", "MEDGEN:2696", "MESH:D001845", "NCIT:C2904", "Orphanet:83468", "SCTID:203467005", "UMLS:C0005937", "icd11.foundation:987501456" ], "synonyms": [ "bone cyst", "cyst of bone", "cyst of the bone", "simple bone cyst", "solitary cyst", "unicameral bone cyst" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "A solitary bone cyst is a benign non-epithelial bone cavity that is asymptomatic and that is found most commonly in the second decade of life by chance. The long bones are most often affected, but cases involving the jaw bone have been reported." }, "child_count": 0, "reference_id": "MONDO:0019372" }, { "id": 20361, "label": "Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone", "isLeaf": false, "isRoot": false, "parents": [ 18958, 20283 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025291", "MEDGEN:272598", "NCIT:C35871", "UMLS:C1333481" ], "synonyms": [ "Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone", "Ewing's sarcoma/peripheral primitive neuroectodermal tumor of bone", "Ewing's sarcoma/peripheral primitive neuroectodermal tumour of bone", "bone tissue Ewing sarcoma/peripheral primitive neuroectodermal tumor", "bone tissue Ewing sarcoma/peripheral primitive neuroectodermal tumour" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "A spectrum of malignant tumors arising from the bone and characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. Pain and the presence of a mass are the most common clinical symptoms." }, "child_count": 4, "reference_id": "MONDO:0021123" }, { "id": 20676, "label": "neoplasm of femur", "isLeaf": false, "isRoot": false, "parents": [ 18958 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025338", "ICD9:239.2", "MEDGEN:8809", "SCTID:126583006", "UMLS:C0015807" ], "synonyms": [ "femur neoplasm", "femur neoplasm (disease)", "femur tumor", "femur tumour", "neoplasm of femur", "tumor of femur", "tumour of femur" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "A neoplasm (disease) that involves the femur." }, "child_count": 1, "reference_id": "MONDO:0021579" }, { "id": 21452, "label": "vascular bone neoplasm", "isLeaf": false, "isRoot": false, "parents": [ 18958, 21330 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025402", "MEDGEN:234986", "NCIT:C6478", "UMLS:C1336946" ], "synonyms": [ "bone vascular neoplasm", "bone vascular tumor", "bone vascular tumour", "osseous vascular neoplasm", "osseous vascular tumor", "osseous vascular tumour", "vascular bone neoplasm", "vascular neoplasm of bone", "vascular neoplasm of the bone", "vascular tumor of bone", "vascular tumor of the bone", "vascular tumour of bone", "vascular tumour of the bone" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A benign, intermediate, or malignant vascular neoplasm that arises from the bone." }, "child_count": 8, "reference_id": "MONDO:0024499" }, { "id": 21515, "label": "hyperparathyroidism 4", "isLeaf": true, "isRoot": false, "parents": [ 16003, 18958, 21247, 24807 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018256", "MEDGEN:1386327", "OMIM:617343", "UMLS:C4479229" ], "synonyms": [ "GCM2 familial isolated hyperparathyroidism", "familial isolated hyperparathyroidism caused by mutation in GCM2", "hyperparathyroidism 4", "hyperparathyroidism type 4", "HRPT4" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Any familial isolated hyperparathyroidism in which the cause of the disease is a mutation in the GCM2 gene." }, "child_count": 0, "reference_id": "MONDO:0024570" }, { "id": 21561, "label": "skull neoplasm", "isLeaf": false, "isRoot": false, "parents": [ 7231, 18958, 21562 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025448", "ICD9:239.2", "MEDGEN:11457", "MESH:D012888", "NCIT:C3375", "SCTID:126538005", "UMLS:C0037305" ], "synonyms": [ "neoplasm of skull", "neoplasm of the skull", "skull neoplasm", "skull tumor", "skull tumour", "tumor of skull", "tumor of the skull", "tumour of skull", "tumour of the skull" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "A benign or malignant neoplasm that affects the bones and structures of the skull." }, "child_count": 21, "reference_id": "MONDO:0024653" }, { "id": 22739, "label": "congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 10564, 16087, 16471, 18362, 18956, 18958, 19279, 21247 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022071", "MEDGEN:1799320", "Orphanet:508542", "UMLS:C5567897" ], "synonyms": [ "MYSM1 deficiency" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0033683" } ], "roots": [ { "id": 7061, "label": "bone disorder" }, { "id": 20678, "label": "connective tissue neoplasm" } ] }