{ "id": 7061, "label": "bone disorder", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0005381", "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." }, "isLeaf": false, "isRoot": false, "child_count": 27, "parents": [ { "id": 6893, "label": "skeletal system disorder", "isLeaf": false, "isRoot": false, "parents": [ 4222 ], "type_id": 0, "properties": { "xrefs": [ "EFO:0002461", "MEDGEN:538042", "SCTID:88230002", "UMLS:C0263661" ], "synonyms": [ "disease of skeletal system", "disease or disorder of skeletal system", "disorder of skeletal system", "skeletal system disease", "skeletal system disease or disorder", "disease of bone and/or joint", "osteoarthropathy" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A disease involving the skeletal system." }, "child_count": 48, "reference_id": "MONDO:0005172" } ], "children": [ { "id": 3151, "label": "bone remodeling disease", "isLeaf": false, "isRoot": false, "parents": [ 7061 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080005" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A bone disease that results in formation or resorption abnormalities located in bone." }, "child_count": 6, "reference_id": "MONDO:0000833" }, { "id": 3152, "label": "disease of bone structure", "isLeaf": false, "isRoot": false, "parents": [ 7061 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080010", "MEDGEN:1843487", "UMLS:C0477681" ], "synonyms": [ "bone structure disease" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 5, "reference_id": "MONDO:0000836" }, { "id": 3787, "label": "mucopolysaccharidosis type 1", "isLeaf": false, "isRoot": false, "parents": [ 7019, 7061, 19111 ], "type_id": 0, "properties": { "xrefs": [ "DOID:12802", "GARD:0010335", "MEDGEN:44171", "MedDRA:10056886", "NANDO:2200547", "NANDO:2201168", "NCIT:C85053", "NORD:1462", "Orphanet:579", "SCTID:75610003", "UMLS:C0023786", "icd11.foundation:1539226250" ], "synonyms": [ "Alpha-L-iduronidase deficiency", "MPS1", "MPSI", "Mucopolysaccharidosis Type I", "lipochondrodystrophy", "mucopolysaccharidosis type 1", "mucopolysaccharidosis type I", "Hurler syndrome", "Hurler syndrome (subtype)", "Hurler-Scheie syndrome (subtype)", "IDUA deficiency", "MPS 1", "MPS I", "Scheie syndrome (subtype) formerly known as Mucopoly-saccharidosis type V)", "attenuated MPS I (subtype, includes Hurler-Scheie and Scheie syndrome)", "mucopolysaccharidosis I", "severe MPS I (subtype, also known as Hurler syndrome)" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "The most common type of mucopolysaccharidosis. It is inherited in an autosomal recessive pattern. It comprises a group of lysosomal storage diseases which includes the most severe form (Hurler syndrome) and the mildest form (Scheie syndrome)." }, "child_count": 9, "reference_id": "MONDO:0001586" }, { "id": 4665, "label": "bone inflammation disease", "isLeaf": false, "isRoot": false, "parents": [ 7061 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3342", "MEDGEN:10492", "MESH:D010000", "SCTID:274144001", "UMLS:C0029400" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Inflammation of the bone." }, "child_count": 6, "reference_id": "MONDO:0002614" }, { "id": 5814, "label": "Baastrup syndrome", "isLeaf": true, "isRoot": false, "parents": [ 3140, 7061 ], "type_id": 0, "properties": { "xrefs": [ "DOID:6643", "ICD10CM:M48.2", "ICD9:721.5", "MEDGEN:510482", "SCTID:82304009", "UMLS:C0158248" ], "synonyms": [ "Baastrup's syndrome", "kissing spine" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0003956" }, { "id": 6681, "label": "periostitis", "isLeaf": false, "isRoot": false, "parents": [ 5762, 7061, 20399 ], "type_id": 0, "properties": { "xrefs": [ "DOID:9957", "HP:0040165", "MEDGEN:45816", "MESH:D010522", "SCTID:41910004", "UMLS:C0031111", "icd11.foundation:505688542" ], "synonyms": [ "periosteum inflammation", "periostitis (disease)" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "Inflammation of the periosteum. The condition is generally chronic, and is marked by tenderness and swelling of the bone and an aching pain. Acute periostitis is due to infection, is characterized by diffuse suppuration, severe pain, and constitutional symptoms, and usually results in necrosis. (Dorland, 27th ed)" }, "child_count": 6, "reference_id": "MONDO:0004934" }, { "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" }, { "id": 7153, "label": "bone development disease", "isLeaf": false, "isRoot": false, "parents": [ 7061, 20383 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080006", "EFO:0005541", "MEDGEN:2309", "SCTID:371521007", "UMLS:C0005941" ], "synonyms": [ "bone development disease", "bone development disease or disorder", "disease of bone development", "disease or disorder of bone development", "disorder of bone development" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A disease involving the bone development." }, "child_count": 18, "reference_id": "MONDO:0005497" }, { "id": 8489, "label": "ainhum", "isLeaf": true, "isRoot": false, "parents": [ 5762, 6820, 7061 ], "type_id": 0, "properties": { "xrefs": [ "DOID:11329", "GARD:0027773", "HP:0031009", "ICD10CM:L94.6", "ICD9:136.0", "MEDGEN:1381", "MESH:D000387", "NCIT:C84544", "OMIM:103400", "SCTID:38528001", "UMLS:C0001860", "icd11.foundation:1138885521" ], "synonyms": [ "Dactylolysis", "Dactylolysis spontanea", "ainhum", "ainhum (disease)", "spontaneous dactylolysis" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "Spontaneous autoamputation of a digit, usually the fifth toe. It results from the formation of a fibrotic band which constricts the full radius of the digit and eventually causes the spontaneous autoamputation." }, "child_count": 0, "reference_id": "MONDO:0007074" }, { "id": 8702, "label": "cervical rib disease", "isLeaf": true, "isRoot": false, "parents": [ 5714, 7061 ], "type_id": 0, "properties": { "xrefs": [ "HP:0000891", "ICD10CM:Q76.5", "ICD9:756.2", "MEDGEN:102359", "MESH:D002573", "MedDRA:10008301", "NCIT:C158329", "OMIM:117900", "SCTID:72535009", "UMLS:C0158779" ], "synonyms": [ "cervical rib", "cervical rib syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A rib that is attached to a cervical vertebra or enlarged transverse processes." }, "child_count": 0, "reference_id": "MONDO:0007303" }, { "id": 8784, "label": "coxoauricular syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7061 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001558", "MEDGEN:343827", "MESH:C565148", "OMIM:122780", "Orphanet:1508", "SCTID:732248005", "UMLS:C1852513", "icd11.foundation:649449912" ], "synonyms": [ "coxoauricular syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Coxoauricular syndrome is an extremely rare primary bone defect, described only in a mother and her three daughters to date, characterized by short stature, hip dislocation, minor vertebral and pelvic changes, and microtia with hearing loss. There have been no further descriptions in the literature since 1981." }, "child_count": 0, "reference_id": "MONDO:0007392" }, { "id": 9306, "label": "metachondromatosis", "isLeaf": true, "isRoot": false, "parents": [ 5714, 7061 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111512", "GARD:0003560", "ICD9:756.59", "MEDGEN:98377", "MESH:C562938", "OMIM:156250", "Orphanet:2499", "SCTID:205481009", "UMLS:C0410530", "icd11.foundation:1342578560" ], "synonyms": [ "metachondromatosis", "METACHONDROMATOSIS", "METCDS" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions." }, "child_count": 0, "reference_id": "MONDO:0007979" }, { "id": 12219, "label": "mucopolysaccharidosis type 9", "isLeaf": true, "isRoot": false, "parents": [ 7061, 19111 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050809", "GARD:0016675", "ICD9:277.6", "MEDGEN:226942", "MESH:C563209", "NANDO:1200115", "NCIT:C129073", "OMIM:601492", "Orphanet:67041", "SCTID:124473006", "UMLS:C1291490", "icd11.foundation:952591271" ], "synonyms": [ "MPS9", "MPSIX", "mucopolysaccharidosis type 9", "mucopolysaccharidosis type IX", "MPS 9", "hyaluronidase deficiency", "mucopolysaccharidosis IX", "mucopolysaccharidosis, type 9", "mucopolysaccharidosis, type IX" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "An autosomal recessive lysosomal storage disease caused by mutation(s) in the HYAL1 gene, encoding hyaluronidase-1. It is characterized by short stature and hyaluronidase deficiency." }, "child_count": 0, "reference_id": "MONDO:0011093" }, { "id": 17864, "label": "Sagliker syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7061 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021233", "MEDGEN:1808631", "Orphanet:300493", "UMLS:C5681093" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A rare bone disease that arises due to secondary hyperparathyroidism in patients with chronic renal failure receiving dialysis characterized by 'uglifying' the appearance of the face" }, "child_count": 0, "reference_id": "MONDO:0017584" }, { "id": 18130, "label": "mixed sclerosing bone dystrophy with extra-skeletal manifestations", "isLeaf": true, "isRoot": false, "parents": [ 7061 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021439", "MEDGEN:1676501", "Orphanet:324364", "UMLS:C5191052" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0017930" }, { "id": 18294, "label": "GM1 gangliosidosis", "isLeaf": false, "isRoot": false, "parents": [ 7019, 7061, 17952 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3322", "GARD:0010891", "ICD9:277.6", "MEDGEN:43107", "MESH:D016537", "NANDO:1200066", "NANDO:2200558", "NCIT:C84739", "Orphanet:354", "SCTID:124465002", "SCTID:238025006", "UMLS:C0085131", "icd11.foundation:401105928" ], "synonyms": [ "Beta-galactosidase-1 deficiency", "GLB1 deficiency", "GM>1< gangliosidosis", "Landing disease", "Landing syndrome", "gangliosidosis GM1", "Beta galactosidase 1 deficiency", "Beta-galactosidosis", "GLB 1 deficiency" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features." }, "child_count": 9, "reference_id": "MONDO:0018149" }, { "id": 18360, "label": "skeletal dysplasia", "isLeaf": false, "isRoot": false, "parents": [ 5714, 7061 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:98053", "Orphanet:364526", "UMLS:C0410528" ], "synonyms": [ "Mendelian skeletal dysplasia", "primary bone dysplasia", "primary osteodysplasia", "primary skeletal dysplasia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Any Mendelian diseases that affects growth and development of the skeleton." }, "child_count": 238, "reference_id": "MONDO:0018230" }, { "id": 18603, "label": "autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 5714, 7061 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021838", "MEDGEN:1801714", "Orphanet:440354", "UMLS:C5680056" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0018601" }, { "id": 18859, "label": "mucopolysaccharidosis type 3", "isLeaf": false, "isRoot": false, "parents": [ 4370, 7061, 19111 ], "type_id": 0, "properties": { "xrefs": [ "DOID:12801", "GARD:0003807", "MEDGEN:6452", "MedDRA:10056890", "NANDO:1200100", "NANDO:2200549", "NCIT:C61262", "NORD:1463", "Orphanet:581", "SCTID:88393000", "UMLS:C0026706", "icd11.foundation:1477250013" ], "synonyms": [ "MPS3", "MPSIII", "Mucopoly-saccharidosis type 3", "Mucopolysaccharidosis Type III", "Sanfilippo disease", "Sanfilippo syndrome", "heparan sulphate sulfatase deficiency", "mucopolysaccharidosis type III" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A lysosomal disease characterized by progressive neurocognitive decline, severe intellectual deterioration, loss of functional abilities, and premature death." }, "child_count": 12, "reference_id": "MONDO:0018937" }, { "id": 18958, "label": "bone neoplasm", "isLeaf": false, "isRoot": false, "parents": [ 7061, 20678 ], "type_id": 0, "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." }, "child_count": 40, "reference_id": "MONDO:0019060" }, { "id": 21562, "label": "skull disorder", "isLeaf": false, "isRoot": false, "parents": [ 7061 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:226937", "NCIT:C27655", "SCTID:118945008", "UMLS:C1290854" ], "synonyms": [ "disease of skull", "disease or disorder of skull", "disorder of skull", "skull disease", "skull disease or disorder", "skull disorder" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A non-neoplastic or neoplastic disorder that affects structures of the skull." }, "child_count": 6, "reference_id": "MONDO:0024654" }, { "id": 22736, "label": "Duane anomaly-myopathy-scoliosis syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7061, 7611 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018842", "Orphanet:50817" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Duane anomaly-myopathy-scoliosis syndrome is characterized by the association of bilateral Duane anomaly type 3, severe scoliosis of early onset, congenital myopathy with hypotonia without muscular weakness, delayed motor development, and short stature. It has been described in one pair of sibs. The Duane type 3 anomaly consists of eye abduction and adduction palsy, globe retraction and narrowing of the palpebral fissure. Muscular biopsy shows aspecific myopathy. Intellectual development is normal. The syndrome is most likely inherited in an autosomal recessive manner. It differs from the Crisfield-Dretakis-Sharpe syndrome, in which short stature and muscular features are absent. Surgery of the scoliosis is necessary. Functional prognosis depends on the severity of the visual handicap." }, "child_count": 0, "reference_id": "MONDO:0033672" }, { "id": 22852, "label": "mueller-weiss syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7061 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022283", "MEDGEN:1708314", "Orphanet:566943", "UMLS:C4761149" ], "synonyms": [ "Brailsford disease", "Mueller-Weiss osteonecrosis of the tarsal bone" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A rare bone disease characterized by spontaneous adult-onset tarsal navicular osteonecrosis. Patients present with chronic mid- and hindfoot pain, swelling and tenderness over the dorsomedial aspect of the midfoot, flattening of the medial longitudinal arch, and pes planovarus. Radiographic findings include comma-shaped deformity due to collapse of the lateral part of the navicular bone and medial or dorsal protrusion of a portion or the entire bone. The condition may be bilateral or asymmetric and associated with pathological fractures." }, "child_count": 0, "reference_id": "MONDO:0035452" }, { "id": 23820, "label": "SLC10A7-congenital disorder of glycosylation", "isLeaf": true, "isRoot": false, "parents": [ 7061, 16168 ], "type_id": 0, "properties": { "synonyms": [ "SLC10A7 deficiency", "SLC10A7-CDG", "SLC10A7-congenital disorder of glycosylation" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "SLC10A7 deficiency is characterized by compound heterozygous mutations in the SLC10A7 gene, a gene of unknown function in humans. It combines overlapping clinical phenotypes characterized by short stature, defective enamel formation (amelogenesis imperfecta), skeletal dysplasia, facial dysmorphism, moderate hearing impairment and mildly impaired intellectual developmen." }, "child_count": 0, "reference_id": "MONDO:0100068" }, { "id": 25070, "label": "metabolic bone disorder", "isLeaf": false, "isRoot": false, "parents": [ 7061 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:2699", "NCIT:C97045", "UMLS:C0005944" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A group of disorders that affect the bones secondary to increased levels of minerals or deficient levels of minerals such as calcium, magnesium, phosphorus, and vitamin D. Representative examples are osteomalacia, osteoporosis, and Paget disease." }, "child_count": 4, "reference_id": "MONDO:0800486" }, { "id": 26054, "label": "proteoglycan-related bone disorder", "isLeaf": true, "isRoot": false, "parents": [ 7061 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1863653", "Orphanet:674499", "UMLS:C5925088" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0971119" }, { "id": 29322, "label": "ACAN-related short stature spectrum", "isLeaf": false, "isRoot": false, "parents": [ 5714, 7061 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A rare semidominant genetic skeletal disorder caused by a variation in ACAN gene, characterized by short stature with variable phenotypic features which may include osteochondritis dissecans, advanced bone age, early-onset arthritis, and/or features consistent with spondyloepiphyseal dysplasia, Kimberley type caused by a single allele whereas biallelic variation can cause spondyloepimetaphyseal dysplasia, aggrecan type." }, "child_count": 6, "reference_id": "MONDO:1060149" } ], "roots": [ { "id": 6893, "label": "skeletal system disorder" } ] }