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Disorder of bone

MedGen UID:: 14182
•Concept ID:: C0005940
•: Disease or Syndrome

Synonyms:	Bone disease; Bone disorder; Rare bone disease related to a common gene or pathway defect
SNOMED CT:	Bone disease (76069003); Osteopathia (76069003); Disorder of bone (76069003)

Monarch Initiative:	MONDO:0005381
Orphanet:	ORPHA364803

Definition

Diseases of bones. [from MONDO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVDisorder of bone

Pathological Conditions, Signs and Symptoms
- Pathological process
  - Disease
    - Disorder by Site
      - Connective and Soft Tissue Disorder
        Musculoskeletal system disorder
        Disorder of bone
        Bone cyst
        Aneurysmal bone cyst
        Cystic angiomatosis of bone
        Multiple bony cystic lesions
        Unicameral bone cyst
        Bone development disease
        Acroosteolysis
        Hajdu-Cheney syndrome
        Osteolytic defect of thumb phalanx
        Osteolytic defects of the phalanges of the 2nd finger
        Osteolytic defects of the phalanges of the 3rd finger
        Osteolytic defects of the phalanges of the 4th finger
        Osteolytic defects of the phalanges of the 5th finger
        Congenital pectus excavatum
        Disappearing bone disease
        Dysostosis
        Acrofacial dysostosis
        Congenital pseudoarthrosis of clavicle
        Crouzon syndrome
        Focal dermal hypoplasia
        Klippel-Feil syndrome
        Orofaciodigital syndrome
        Rubinstein-Taybi syndrome
        Spondylocostal dysostosis
        Synostosis
        Gigantism
        Gorlin syndrome
        Basal cell nevus syndrome 1
        Basal cell nevus syndrome 2
        Lower limb asymmetry
        Hemiatrophy of lower limb
        Hemihypertrophy of lower limb
        Marfan syndrome
        Loeys-Dietz Syndrome Type 2
        Odontoid hypoplasia
        Osteochondrodysplasia
        Achondroplasia
        Chondrodysplasia Blomstrand type
        Chondrodysplasia punctata
        Cleidocranial dysostosis
        Desbuquois syndrome
        Diaphyseal dysplasia
        Ellis-van Creveld syndrome
        Enchondromatosis
        FGFR3 Chondrodysplasia
        Fibrous dysplasia
        Hyperostosis interna frontalis
        Hypochondroplasia
        Increased bone mineral density
        Infantile cortical hyperostosis
        Kashin-Beck disease
        Langer-Giedion syndrome
        Mesomelic dysplasia
        Osteochondroma
        Osteogenesis imperfecta
        Proximal femoral epiphysiolysis
        Pyknodysostosis
        SAPHO syndrome
        Short rib-polydactyly syndrome
        Pectus carinatum
        Superior pectus carinatum
        Platybasia
        Proteus syndrome
        Severe short stature
        Cockayne syndrome
        Congenital hypothyroidism
        Laron-type isolated somatotropin defect
        Mulibrey nanism syndrome
        Pituitary dwarfism
        Russell-Silver syndrome
        Weill-Marchesani syndrome
        Bone Diseases, Endocrine
        Acromegaly
        Osteitis fibrosa
        Bone Diseases, Infectious
        Osteomyelitis
        Chronic multifocal osteomyelitis
        Foot osteomyelitis
        Mandibular osteomyelitis
        Mastoiditis
        Osteomyelitis leading to amputation due to slow healing fractures
        Petrositis
        Pott puffy tumor
        Salmonella osteomyelitis
        Periostitis
        Skeletal tuberculosis
        Tuberculosis, spinal
        Spondylitis
        Diskitis
        Inflammatory spondylopathy
        Bone inflammation disease
        Bone Malalignment
        Bone Anteversion
        Bone Retroversion
        Coxa valga
        Bone necrosis
        Aseptic Necrosis of Bone
        Aseptic Necrosis of Head and Neck of Femur
        Osteonecrosis of head of humerus
        Avascular necrosis
        Avascular Necrosis of Femur
        Avascular Necrosis of Humerus
        Avascular Necrosis of the Joint
        Juvenile aseptic necrosis
        Bisphosphonate-Associated Osteonecrosis
        Coxa plana
        Femur Head Necrosis
        Idiopathic phalangeal acro-osteolysis
        Mueller-weiss syndrome
        Osteochondritis dissecans
        Osteonecrosis of jaw caused by bisphosphonate
        Osteonecrosis of the jaw
        Osteoradionecrosis
        Osteoradionecrosis of the mandible
        Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
        Bone Neoplasm
        Adamantinoma
        Tibial adamantinoma
        Bone benign neoplasm
        Benign neoplasm of lower jaw bone
        Benign Notochordal Cell Tumor
        Benign Osteoclastic Giant Cell-Rich Tumor of Bone
        Bone Hemangioma
        Bone Lipoma
        Bone Schwannoma
        Chondroblastoma
        Chondromyxoid fibroma
        Enchondroma
        Fibrous Histiocytoma of Bone
        Non-Ossifying Fibroma
        Osteoblastoma
        Osteochondromyxoma
        Osteoid osteoma
        Osteoma
        Periosteal chondroma
        Periosteal Fibroma
        Bone cancer
        Bone Cancer by AJCC v7 Stage
        Bone Cancer by AJCC v8 Stage
        Bone Epithelioid Hemangioendothelioma
        Bone sarcoma
        Chest wall bone cancer
        Chordoma
        Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone
        Malignant Osteoclastic Giant Cell-Rich Tumor of Bone
        Mandibular cancer
        Metastatic malignant neoplasm to bone
        Primary bone lymphoma
        Recurrent Malignant Bone Neoplasm
        Refractory Malignant Bone Neoplasm
        Solitary osseous plasmacytoma
        Bone Erdheim-Chester Disease
        Bone Glomus Tumor
        Bone Langerhans Cell Histiocytosis
        Intermediate Bone Neoplasm
        Aggressive Osteoblastoma
        Fibrocartilaginous Mesenchymoma
        Intermediate Osteoclastic Giant Cell-Rich Tumor of Bone
        Metastasizing Chondroblastoma
        Maxillofacial Neoplasm
        Benign Maxillofacial Neoplasm
        Maxillofacial Sarcoma
        Neoplasm of femur
        Notochordal tumor
        Osteoclastic Giant Cell-Rich Tumor of Bone
        Skull neoplasm
        Benign Skull Neoplasm
        Jaw neoplasm
        Neoplasm of the nose
        Orbit neoplasm
        Skull base neoplasm
        Skull cancer
        Spinal Neoplasm
        Cervical Spine Neoplasm
        Intraspinal Neoplasm
        Lumbar Spine Neoplasm
        Lumbosacral Spine Neoplasm
        Sacral Spine Neoplasm
        Spinal chordoma
        Thoracic Spine Neoplasm
        Vascular bone neoplasm
        Bone angiosarcoma
        Bone Paget disease
        Hyperphosphatasemia with bone disease
        Sternal Paget Disease
        Bone resorption disease
        Ainhum
        Alveolar bone loss
        Osteolysis
        Mandibular osteolysis
        Progressive clavicular acroosteolysis
        Rib osteolysis
        Coxa magna
        Eosinophilic granuloma
        Epiphysiolysis
        Genu valgum
        Genu varum
        Wind-swept deformity of the knees
        Hyperostosis
        Cranial hyperostosis
        Calvarial hyperostosis
        Hyperostosis cranialis interna
        Craniodiaphyseal dysplasia
        Craniotubular Hyperostosis
        Diffuse idiopathic skeletal hyperostosis
        Exostoses
        Exostoses of hand bones
        Exostoses of the forearm bones
        Exostosis of external ear canal
        Heberden node
        Heel spur
        Multiple congenital exostosis
        Osteophyte of bone
        Pelvic bone exostoses
        Rib exostoses
        Scapular exostoses
        Hyperostosis, Sternocostoclavicular
        Hyperphosphatasemia tarda
        Increased skull ossification
        Dense calvaria
        Increased spinal bone density
        Vertebral hyperostosis
        Metabolic bone disorder
        Bone Demineralization, Pathologic
        Decalcification, Pathologic
        Mucolipidosis
        Deficiency of N-acetylglucosamine-1-phosphotransferase
        GNPTG-mucolipidosis
        Mucolipidosis type II
        Mucolipidosis Type IIIA
        Mucolipidosis type IV
        Sialidosis
        Osteomalacia
        Tumor-induced osteomalacia
        Osteoporosis
        Generalized osteoporosis
        Idiopathic juvenile osteoporosis
        Localized osteoporosis
        Nephrolithiasis/osteoporosis, hypophosphatemic
        Postmenopausal osteoporosis
        Pregnancy associated osteoporosis
        X-linked osteoporosis with fractures
        Pseudogout
        Pseudohypoparathyroidism
        Pseudohypoparathyroidism type 1B
        Pseudohypoparathyroidism type 1C
        Pseudohypoparathyroidism type I A
        Pseudohypoparathyroidism type II
        Pseudopseudohypoparathyroidism
        Rickets
        Acquired Rickets
        Adult Rickets
        Calcium Deficiency Rickets
        Childhood Rickets
        Chronic kidney disease mineral and bone disorder
        Dent disease
        Familial X-linked hypophosphatemic vitamin D refractory rickets
        Hypocalcemic rickets
        Hypophosphatemic rickets
        Nutritional Rickets
        Vitamin D Dependent Rickets 2
        Vitamin D-dependent rickets
        Vitamin D-dependent rickets type II with alopecia
        Vitamin D-dependent rickets, type 2
        Osteochondritis
        Osteochondrosis
        Familial osteoarthropathy of the fingers
        Freiberg disease
        Juvenile osteochondritis
        Juvenile osteochondrosis of spine
        Morbus Osgood-Schlatter
        Legg-Calve-Perthes disease
        Medial condensing osteitis of the clavicle
        Morbus Kienboeck
        Osteochondritis of tarsal/metatarsal bone
        Osteochondrosis of Spine
        Panner disease
        Sinding-Larsen-Johansson disease
        Pachydermoperiostosis syndrome
        Hypertrophic osteoarthropathy, primary, autosomal recessive, 1
        Secondary hypertrophic osteoarthropathy
        Vertebral column disorder
        Barre-Lieou syndrome
        Curvature of spine
        Hyperlordosis
        Kyphosis
        Scoliosis
        Displacement of intervertebral disc
        Intervertebral disk degeneration
        Cervical disk degenerative disorder
        Degeneration of lumbar intervertebral disc
        Thoracic disk degenerative disorder
        Ossification of posterior longitudinal ligament
        Osteophytosis, Spinal
        Spondylosis
        Spondylolysis

Professional guidelines

PubMed

Hereditary Metabolic Bone Diseases: A Review of Pathogenesis, Diagnosis and Management.

Charoenngam N, Nasr A, Shirvani A, Holick MF
Genes (Basel) 2022 Oct 17;13(10) doi: 10.3390/genes13101880. PMID: 36292765 Free PMC Article

Hypophosphatasia: Canadian update on diagnosis and management.

Khan AA, Josse R, Kannu P, Villeneuve J, Paul T, Van Uum S, Greenberg CR
Osteoporos Int 2019 Sep;30(9):1713-1722. Epub 2019 Mar 26 doi: 10.1007/s00198-019-04921-y. PMID: 30915507

Hypophosphatasia in Adults: Clinical Assessment and Treatment Considerations.

Shapiro JR, Lewiecki EM
J Bone Miner Res 2017 Oct;32(10):1977-1980. Epub 2017 Aug 16 doi: 10.1002/jbmr.3226. PMID: 28731215

See all (15)

Recent clinical studies

Therapy

Bisphosphonate therapy in CKD: the current state of affairs.

Damasiewicz MJ, Nickolas TL
Curr Opin Nephrol Hypertens 2020 Mar;29(2):221-226. doi: 10.1097/MNH.0000000000000585. PMID: 31833938 Free PMC Article

Hypophosphatasia: Canadian update on diagnosis and management.

Khan AA, Josse R, Kannu P, Villeneuve J, Paul T, Van Uum S, Greenberg CR
Osteoporos Int 2019 Sep;30(9):1713-1722. Epub 2019 Mar 26 doi: 10.1007/s00198-019-04921-y. PMID: 30915507

Diagnosis and treatment of Paget's disease of bone: a mini-review.

Ferraz-de-Souza B, Correa PH
Arq Bras Endocrinol Metabol 2013 Nov;57(8):577-82. doi: 10.1590/s0004-27302013000800001. PMID: 24343625

Paget's disease of bone: clinical review and update.

Bolland MJ, Cundy T
J Clin Pathol 2013 Nov;66(11):924-7. Epub 2013 Sep 16 doi: 10.1136/jclinpath-2013-201688. PMID: 24043712

Fibrous dysplasia.

Parekh SG, Donthineni-Rao R, Ricchetti E, Lackman RD
J Am Acad Orthop Surg 2004 Sep-Oct;12(5):305-13. doi: 10.5435/00124635-200409000-00005. PMID: 15469225

See all (47)

Prognosis

Hypophosphatasia: A Unique Disorder of Bone Mineralization.

Villa-Suárez JM, García-Fontana C, Andújar-Vera F, González-Salvatierra S, de Haro-Muñoz T, Contreras-Bolívar V, García-Fontana B, Muñoz-Torres M
Int J Mol Sci 2021 Apr 21;22(9) doi: 10.3390/ijms22094303. PMID: 33919113 Free PMC Article

The Roles of Long Non-coding RNA in Osteoporosis.

Li Y, Li J, Chen L, Xu L
Curr Stem Cell Res Ther 2020;15(7):639-645. doi: 10.2174/1574888X15666200501235735. PMID: 32357819

Paget's disease of bone: clinical review and update.

Bolland MJ, Cundy T
J Clin Pathol 2013 Nov;66(11):924-7. Epub 2013 Sep 16 doi: 10.1136/jclinpath-2013-201688. PMID: 24043712

Paget's disease of bone.

Griz L, Caldas G, Bandeira C, Assunção V, Bandeira F
Arq Bras Endocrinol Metabol 2006 Aug;50(4):814-22. doi: 10.1590/s0004-27302006000400026. PMID: 17117306

Fibrous dysplasia.

Parekh SG, Donthineni-Rao R, Ricchetti E, Lackman RD
J Am Acad Orthop Surg 2004 Sep-Oct;12(5):305-13. doi: 10.5435/00124635-200409000-00005. PMID: 15469225

See all (31)

Clinical prediction guides

Efficacy and safety of intravenous Zolidronic acid in the treatment of pediatric osteogenesis imperfecta: a systematic review.

Mahmoud I, Bouden S, Sahli M, Rouached L, Ben Tekaya A, Tekaya R, Saidane O, Abdelmoula L
J Pediatr Orthop B 2024 May 1;33(3):283-289. Epub 2023 Jun 20 doi: 10.1097/BPB.0000000000001104. PMID: 37339526

Bisphosphonates for osteoporosis in people with cystic fibrosis.

Jeffery TC, Chang AB, Conwell LS
Cochrane Database Syst Rev 2023 Jan 10;1(1):CD002010. doi: 10.1002/14651858.CD002010.pub5. PMID: 36625789 Free PMC Article

Hypophosphatasia: A Unique Disorder of Bone Mineralization.

Hypophosphatasia: Canadian update on diagnosis and management.

Khan AA, Josse R, Kannu P, Villeneuve J, Paul T, Van Uum S, Greenberg CR
Osteoporos Int 2019 Sep;30(9):1713-1722. Epub 2019 Mar 26 doi: 10.1007/s00198-019-04921-y. PMID: 30915507

Clinical and genetic aspects of hypophosphatasia in Japanese patients.

Taketani T, Onigata K, Kobayashi H, Mushimoto Y, Fukuda S, Yamaguchi S
Arch Dis Child 2014 Mar;99(3):211-5. Epub 2013 Nov 25 doi: 10.1136/archdischild-2013-305037. PMID: 24276437

See all (31)

Recent systematic reviews

Efficacy and safety of intravenous Zolidronic acid in the treatment of pediatric osteogenesis imperfecta: a systematic review.

Bisphosphonates for osteoporosis in people with cystic fibrosis.

Jeffery TC, Chang AB, Conwell LS
Cochrane Database Syst Rev 2023 Jan 10;1(1):CD002010. doi: 10.1002/14651858.CD002010.pub5. PMID: 36625789 Free PMC Article

Bisphosphonates for osteoporosis in people with cystic fibrosis.

Brenckmann C, Papaioannou A
Cochrane Database Syst Rev 2001;(4):CD002010. doi: 10.1002/14651858.CD002010. PMID: 11687132

See all (3)

MedGen

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Disorder of bone

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Clinical resources

Practice guidelines

Consumer resources

Reviews

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