| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Juvenile osteochondrosis of hand |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
3 |
| Osteophyte of left knee (disorder) |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
1 |
| Heberden node of the distal interphalangeal joints of the left hand |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
| Osteophyte of bilateral knees (disorder) |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
1 |
| Heberden node |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
| Heberden node of the distal interphalangeal joints of the right hand |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
| Sporotrichosis of the bones |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
| A rare genetic primary bone dysplasia with decreased bone density disorder with characteristics of childhood-onset osteoporosis associated with recurrent, multiple, osteoporotic, long bone fractures and/or vertebral compression fractures, significant height loss in adulthood, low bone mineral density scores and otherwise no other abnormalities. Heterozygote females may be unaffected or have a milder phenotype. There is evidence the disease can be caused by mutation in the PLS3 gene on chromosome Xq23. |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
| A rare genetic congenital limb malformation syndrome with characteristics of mild to severe short stature, brachydactyly and retinal degeneration (usually retinitis pigmentosa) associated with variable intellectual disability, developmental delay and craniofacial anomalies. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the CWC27 gene on chromosome 5q12. |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
2 |
| A rare genetic primary bone dysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, congenital joint dislocations, micrognathia, posterior cleft palate, brachydactyly, short metacarpals and irregular size of the metacarpal epiphyses, supernumerary carpal ossification centers and dysmorphic facial features. In addition, hearing impairment and mild psychomotor delay have also been reported. Caused by homozygous mutation in the IMPAD1 gene on chromosome 8q12. |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
| A rare primary bone dysplasia with characteristics of intrauterine growth retardation, pre and postnatal disproportionate short stature with short, rhizomelic limbs, facial dysmorphism, a short neck and small thorax. Hypotonia, cardiomegaly and global developmental delay have also been associated. Several radiographic findings have been reported, including ribs with cupped ends, platyspondyly, square iliac bones, horizontal and trident acetabula, hypoplastic ischia, and delayed epiphyseal ossification. There is evidence this disease is caused by homozygous mutation in the MAGMAS (PAM16) gene on chromosome 16p13. |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
1 |
| A rare primary bone dysplasia disorder with characteristics of normal birth length with early postnatal growth deficiency resulting in severe disproportionate short stature (with short trunk and limbs), severe genu varum, flexion contractures in the hips and lumbar hyperlordosis. Radiological findings reveal platyspondyly with central indentation of vertebral endplates, progressive and severe epimetaphyseal abnormalities that primarily affect the lower limbs and include very small, irregular proximal femoral and knee epiphyses, severe coxa vara, delayed ossification of proximal femoral epiphyses and irregular distal femoral and proximal tibial metaphyses. |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
| A rare genetic primary bone dysplasia disorder with characteristics of increased bone fragility manifesting with multiple childhood-onset vertebral and peripheral fractures that are associated with increased bone mass density on radiometric examination. Patients typically present normal or mild short stature and dentinogenesis, hearing and sclerae are commonly normal. |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
| A rare primary bone dysplasia disorder with characteristics of disproportionate short stature, severe femoral neck deformity, marked metaphyseal abnormalities and platyspondyly consisting of ovoid vertebral bodies that have an anterior tongue-like deformity. |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
| A rare genetic primary bone dysplasia with increased bone density disorder with characteristics of benign isolated calvarial thickening presenting with prominent frontoparietal bones, a high forehead with ridging of the metopic and sagittal sutures, lateral frontal prominences and facial dysmorphism comprising a flat nasal root and short upturned nose. Increased intracranial pressure and cranial nerve entrapment are not associated. There have been no further descriptions in the literature since 1986. |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
| Spondylometaphyseal dysplasia Czarny Ratajczak type |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
1 |
| A rare genetic myotonic syndrome characterized by childhood onset of progressive and severe myotonia (with generalized muscular hypertrophy and progressive impairment of gait) short stature, skeletal abnormalities (including pectus carinatum, short, wedge-shaped thoracolumbar vertebrae, kyphoscoliosis, genu valgum, irregular femoral epiphyses) and mild to moderate intellectual deficiency. Facial dysmorphism and joint limitation are not associated. There have been no further descriptions in the literature since 1984. |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
| Infection of bone associated with bone fixation device |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
| Inficeret plade eller skrue |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
1 |
| Infection of bone associated with internal Kirschner wire fixator |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
| A rare genetic dysostosis syndrome with characteristics of intrauterine growth restriction, short stature (with short lower segment), lower limb joint contractures and muscular hypotrophy, narrow small pelvis, lumbar hyperlordosis with scoliosis and foot deformity (short overlapping toes). Imaging reveals ovoid/wedge-shaped vertebral bodies, pelvic and skeletal hypoplasia with metatarsal fusion in the lower limbs and normal skull and upper limbs. |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
| Infection of bone associated with bone wire |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
| An extremely rare primary bone dysplasia with increased bone density with characteristics of lethal neonatal dwarfism with hydrops, narrow chest and short limbs with extensive cortical thickening of all long bones, ribs, clavicles and scapulae and coronal clefts in vertebral bodies. |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
| Infection of bone associated with external fixator pin |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
| A rare genetic dysostosis syndrome with combined reduction defects of upper and lower limbs and characteristics of bilateral radial aplasia, absent thumbs and bilateral tibial hypo/aplasia. Additional bone anomalies (including partial toe hypo/aplasia, short fibula and clubhand) may be associated. There have been no further descriptions in the literature since 1996. |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
| Infection of bone associated with intramedullary rod |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities. There is evidence the disease is caused by heterozygous mutation in the COL11A2 gene on chromosome 6p21. |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
| Osteomesopyknose |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
3 |
| Osteosclerosis |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
| A primary bone dysplasia disorder that encompasses a group of congenital anomalies that are characterised by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group includes otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterised in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects. |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
| A rare osteonecrosis disease with characteristics of death of bone cellular components secondary to an interruption of the subchondral blood supply. The disease typically manifests with unilateral or bilateral, unifocal or multifocal lesions usually located on the epiphysis, metaphysis and/or diaphysis of the femoral heads, knees, shoulders, ankles and/or wrists, leading to gradual onset of pain and progressive joint degeneration resulting in loss of function. Association with corticosteroid usage, alcoholism, hyperbaric events, radiation or cytotoxic agent exposure, hemoglobinopathies, and/or underlying autoimmune or metabolic disease amongst others has been observed. |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
| Syndrome with characteristics of the association of osteopathia striata (longitudinal striations through most of the long bones) with a macular hyperpigmented dermopathy and a white forelock. It has been observed in a woman and her two daughters, whereas her son is unaffected. X-linked or autosomal dominant inheritance is proposed. |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
| Bowing deformity of bone |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
| A rare genetic primary bone dysplasia with increased bone density disorder with characteristics of bone abnormalities, including metaphyseal plaques, osteopathia striata, marked cranial sclerosis, and sclerosis of the ribs and long bones, as well as macrocephaly, cleft palate, hearing loss, developmental delay, and facial dysmorphism (hypertelorism, prominent forehead, wide nasal bridge). Hypotonia, tracheo/laryngomalacia, and astigmatic myopia are also associated. |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
3 |
| Infection of bone associated with spinal fixation device |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
2 |
| Brachyolmia recessive type is a form of brachyolmia with characteristics of short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur. Mental status and facies are reported to be normal. Some patients are reported to have peripheral punctuate opacities in the cornea found on slit lamp examination (formerly Toledo type). A number of different mutations in the PAPSS2 gene (10q23.2-q23.3) have been reported in affected patients. PAPPS2 encodes PAPS (3'-phosphoadenosine 5'-phosphosulfate) synthase 2. Observed to follow an autosomal recessive pattern of inheritance. |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
| A rare genetic congenital limb malformation syndrome with characteristics of a unique combination of bilateral, symmetrical camptodactyly and clinodactyly of fifth fingers, mesoaxial camptodactyly of toes and ulnar deviation of third fingers. Additional variable manifestations include bifid toes and severe syndactyly or synpolydactyly involving all digits of hands and feet. |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
| A rare genetic bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated. There is evidence the disease can be caused by homozygous mutation in the CYP26B1 gene on chromosome 2p13. |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
| A rare genetic dermis elastic tissue disease with characteristics of redundant, over folded skin of variable severity, ranging from wrinkly skin to cutis laxa associated with pre and post-natal growth retardation, hypotonia, mild to moderate developmental delay, late closure of anterior fontanelle, and craniofacial dysmorphism (including microcephaly, hypertelorism, downslanting palpebral fissures, large, prominent nasal root with funnel nose, small low-set ears, long philtrum, drooping facial skin). Additional manifestations may include seizures, intellectual disability, congenital hip dislocation, inguinal hernia and cortical and cerebellar malformations. Pretibial pseudo-ecchymotic skin lesions have occasionally been associated. |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
| Dysplasia with increased bone density |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
3 |
| A rare and crippling chondrodysplasia, reported mainly in the Maputaland region in northern KwaZulu Natal, South Africa, characterized by a bilateral and uniform arthropathy of the joints that primarily and most severely affects the hip but that can also affect many other joints (i.e. knees, ankles, wrists, shoulders, elbows), and that manifests with pain and stiffness that progressively limits joint movement, eventually compromising a patient's ability to walk. Severe short stature and brachydactyly have been reported in a few patients with MJD. |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
2 |
| Menkes kinky-hair syndrome |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
4 |
| Mixed sclerosing bone dysplasia (disorder) |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
3 |
| A rare genetic primary bone dysplasia disorder with characteristics of short stature, hyperlordosis, protuberant abdomen, mild bilateral genu varum, bowed and shortened forearms with limited elbow extension and discrete facial dysmorphism (prominent forehead, hypertelorism, flat nasal bridge). Radiographically moderate platyspondyly, including posterior wedging with anterior bullet-shaped vertebral bodies, with minimal metaphyseal abnormalities are observed. |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
| A rare genetic congenital limb malformation syndrome with characteristics of complete cutaneous syndactyly between toes 1-2, ulnar polydactyly (ranging from nubbins to an almost complete additional finger) and earlobe malformations. Additionally, abnormalities along the medial border of the foot are observed on X-ray imaging. There have been no further descriptions in the literature since 1976. |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
| A rare genetic disease characterized by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981. |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
| Gonococcal osteomyelitis (disorder) |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
2 |
| Schwartz-Jampel syndrome |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
| Hypophosphataemic rickets with nephrotic-glycosuric dwarfism |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
3 |
| Autosomal dominant hypophosphatemic rickets |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
3 |
| Autosomal dominant hypophosphataemic bone disease |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
3 |
| A very rare benign bone disorder with characteristics of bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content. The disease may be underdiagnosed due to confusion with autosomal dominant osteopetrosis. The condition is usually found incidentally on radiological examination and is very mild, sometimes accompanied by pain. Increased density of the vertebral plates, pelvis and occasionally of the upper femur have been reported, as well as kyphoscoliosis and femoral cysts. |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
| Francois syndrome (disorder) |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
3 |
| Aluminum bone disease |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
| Aluminium-related osteomalacia |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
2 |
| Fracture of bone due to accidental fall |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
| Reduced ossification |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
2 |
| Division and displacement of bone (procedure) |
Procedure site - Direct (attribute) |
True |
Bone structure |
Inferred relationship |
Some |
2 |
| Neonatal osteosclerotic dysplasia (disorder) |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
| Blomstrand dysplasia (disorder) |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
| A rare disorder defined by generalised osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course. Mutations in the FAM20C gene have a causative role in lethal osteosclerotic bone dysplasia. The condition is transmitted in an autosomal recessive manner. |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
| Q fever osteomyelitis (disorder) |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
2 |
| Osteomyelitis |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
2 |
| SAPHO syndrome |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
4 |
| Bacterial osteomyelitis |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
2 |
| Seckel syndrome |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
| Klippel-Feil sequence |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
| Salmonella osteomyelitis |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
2 |
| Desmosterolosis (disorder) |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
| Potocki-Shaffer syndrome has characteristics of multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2). |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
3 |
| Hemangioma of bone |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
| Chronic symmetric plasma cell osteomyelitis |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
2 |
| A rare primary bone dysplasia characterized by global developmental delay, hypotonia, ossification anomalies of the cranial vault, abnormalities of the long bones due to defective remodeling, thoracic deformity, and progressive osteopenia. Dysmorphic craniofacial features include microcephaly, hypertelorism, narrow mouth, cleft palate, and micrognathia. |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
3 |
| A rare genetic renal tubular disease characterized by hypophosphatemia, decreased renal phosphate resorption and hypercalciuria leading to calcium nephrolithiasis and/or nephrocalcinosis and osteoporosis, in the presence of normal/increased serum calcitriol levels. |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
4 |
| Wildervanck syndrome |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
| Familial x-linked hypophosphatemic vitamin D refractory rickets |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
3 |
| Osteitis fibrosa cystica |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
4 |
| Osteomyelitis of multiple sites |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
2 |
| Fracture of multiple bones (disorder) |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
| Erosion of bone (finding) |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
| Fracture of bone after implantation of orthopedic device |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
| An extremely rare type of severe combined immunodeficiency syndrome (SCID) characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes) associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity. |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
| Osteomyelitis due to type 1 diabetes mellitus (disorder) |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
2 |
| Osteomyelitis due to type 2 diabetes mellitus (disorder) |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
2 |
| CT guided injection of bone |
Procedure site - Indirect (attribute) |
True |
Bone structure |
Inferred relationship |
Some |
1 |
| CT guided injection of bone |
Procedure site - Direct (attribute) |
True |
Bone structure |
Inferred relationship |
Some |
2 |
| CT guided aspiration of bone |
Procedure site - Indirect (attribute) |
False |
Bone structure |
Inferred relationship |
Some |
1 |
| CT guided aspiration of bone |
Procedure site - Direct (attribute) |
True |
Bone structure |
Inferred relationship |
Some |
2 |
| Entire bony bone |
Is a |
True |
Bone structure |
Inferred relationship |
Some |
|
| Malignant neoplasm of bone, connective tissue, skin and breast |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
2 |
| Carcinoma of bone, connective tissue, skin and breast |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
2 |
| Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3). |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
3 |
| Autosomal dominant hypophosphatemic rickets |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
2 |
| Autosomal dominant hypophosphataemic bone disease |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
2 |
| A rare genetic renal tubular disease characterized by hypophosphatemia, decreased renal phosphate resorption and hypercalciuria leading to calcium nephrolithiasis and/or nephrocalcinosis and osteoporosis, in the presence of normal/increased serum calcitriol levels. |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
2 |
| Radiotherapy to bone |
Procedure site - Direct (attribute) |
True |
Bone structure |
Inferred relationship |
Some |
1 |
| Chondrodysplasia punctata due to maternal autoimmune disease (disorder) |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
| Chronic kidney disease with osteoporosis |
Finding site |
False |
Bone structure |
Inferred relationship |
Some |
1 |
| Renal osteodystrophy with high bone turnover |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
| Renal osteodystrophy with normal bone turnover (disorder) |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
| Renal osteodystrophy with low bone turnover (disorder) |
Finding site |
True |
Bone structure |
Inferred relationship |
Some |
1 |
FHIR