Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Brachyolmia type 1 Toledo type |
Finding site |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Larsen syndrome |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Kleinwuchs, osteochondrodysplastischer - Schwerhörigkeit - Retinitis pigmentosa |
Finding site |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Acropectorovertebral dysplasia |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Oto-palato-digital syndrome, type I |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Filippi syndrome (disorder) |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Long thumb brachydactyly syndrome (disorder) |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Acrodysostosis |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis. |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
syndrome d'Ehlers-Danlos type vasculaire-like |
Finding site |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Short rib polydactyly syndrome Saldino Noonan type |
Finding site |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
A relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterised by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood. |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Mandibuloacral dysostosis |
Finding site |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Osseous cryptococcosis (disorder) |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Bone structure of multiple body regions (body structure) |
Is a |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features. |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Ehlers-Danlos syndrome spondylocheirodysplastic type |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
dysplasie spondylo-épimétaphysaire type Bieganski |
Finding site |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Spondylometaphyseal dysplasia Golden type (disorder) |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Spondyloepimetaphyseal dysplasia Genevieve type (disorder) |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Nestor Guillermo progeria syndrome (disorder) |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Roifman syndrome (disorder) |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Delayed epiphyseal closure |
Finding site |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Premature epiphyseal closure |
Finding site |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Bone turnover rate disorder |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Bone turnover rate decreased |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Increased bone formation |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Bone resorption disorder |
Finding site |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Decreased maintenance of bone matrix |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Bone turnover rate increased |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
épiphyse soudée |
Finding site |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Bone turnover rate absent |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Late closure of anterior fontanel (finding) |
Finding site |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Decreased osteoblast function (finding) |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Incomplete ossification of interparietal bone |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Lack of bone formation |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Osteoid formation disorder |
Finding site |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Epiphysis formation disorder |
Finding site |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Early fontanel closure |
Finding site |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Functional bone disorder |
Finding site |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Reduced ossification (finding) |
Finding site |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Late fontanel closure |
Finding site |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome |
Finding site |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
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 |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
A rare genetic dysostosis disorder with characteristics of brachydactyly and other finger/toe anomalies (short and/or wide metacarpals, abnormal or absent metatarsals, broad halluces), carpal synostosis, fused cervical vertebrae, scoliosis and spina bifida occulta. There have been no further descriptions in the literature since 1984. |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
A rare genetic developmental defect during embryogenesis disorder with characteristics of craniofacial dysmorphism (including brachycephaly, prominent forehead, sparse lateral eyebrows, severe hypertelorism, upslanting palpebral fissures, epicanthal folds, protruding ears, broad nasal bridge, pointed nasal tip, flat philtrum, anteverted nostrils, large mouth, thin upper vermilion border, highly arched palate and mild micrognathia) associated with osteopenia leading to repeated long bone fractures, severe myopia, mild to moderate sensorineural or mixed hearing loss, enamel hypoplasia, sloping shoulders and mild intellectual disability. There is evidence the disease can be caused by homozygous mutation in the IRX5 gene on chromosome 16q11.2. |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder) |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Spondylo-megaepiphyseal-metaphyseal dysplasia (disorder) |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Osteopetrosis hypogammaglobulinemia syndrome (disorder) |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Dysostose, periphere |
Finding site |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
High intensity focused ultrasound ablation of lesion of bone using magnetic resonance imaging guidance (procedure) |
Procedure site - Direct (attribute) |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
High intensity focused ultrasound ablation of lesion of bone using magnetic resonance imaging guidance (procedure) |
Procedure site - Direct (attribute) |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Temtamy preaxial brachydactyly syndrome (disorder) |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Brachytelephalangic chondrodysplasia punctata (disorder) |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Fibroblast growth factor receptor 2-related bent bone dysplasia (disorder) |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Ehlers-Danlos syndrome due to tenascin-X deficiency |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal recessive cutis laxa type 2B |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Acroosteolysis, keloid-like lesions, premature ageing syndrome |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Craterisation of bone |
Procedure site - Direct (attribute) |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Terminal osseous dysplasia and pigmentary defect syndrome (disorder) |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Osteoporosis due to corticosteroids |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Osteoporosis due to corticosteroids |
Finding site |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Drug-induced osteoporosis (disorder) |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Total prosthetic replacement of bone |
Procedure site - Indirect (attribute) |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Total prosthetic replacement of bone of hand (procedure) |
Procedure site - Indirect (attribute) |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Total prosthetic replacement of scaphoid (procedure) |
Procedure site - Indirect (attribute) |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Total prosthetic replacement of trapezium |
Procedure site - Indirect (attribute) |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Total prosthetic replacement of lunate |
Procedure site - Indirect (attribute) |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Neonatal osteopenia (disorder) |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Total ostectomy for graft of mandible |
Procedure site - Direct (attribute) |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Juvenile osteochondrosis of carpal lunate |
Finding site |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Fragmented coronoid process (disorder) |
Finding site |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Juvenile osteochondrosis of right second metatarsal (disorder) |
Finding site |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Medial coronoid process disease |
Finding site |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Complete epiphyseal arrest (disorder) |
Finding site |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Juvenile osteochondrosis of the foot (disorder) |
Finding site |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Juvenile osteochondrosis of left second metatarsal |
Finding site |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Juvenile osteochondrosis of lower extremity |
Finding site |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Juvenile osteochondrosis of talus (disorder) |
Finding site |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Juvenile osteochondrosis of second metatarsal |
Finding site |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Juvenile osteochondrosis of lower ulna |
Finding site |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Juvenile osteochondrosis of left tarsus (disorder) |
Finding site |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Juvenile osteochondrosis of left tarsal navicular |
Finding site |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Juvenile osteochondrosis of bilateral tarsals (disorder) |
Finding site |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Juvenile osteochondrosis of tibial tubercle |
Finding site |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Juvenile osteochondrosis of head of metacarpals |
Finding site |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Juvenile osteochondrosis of lower extremity, excluding foot |
Finding site |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Juvenile osteochondrosis of the secondary patellar center |
Finding site |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Juvenile osteochondrosis of right tarsal navicular (disorder) |
Finding site |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Juvenile osteochondrosis of right tarsus (disorder) |
Finding site |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Juvenile osteochondrosis of upper extremity (disorder) |
Finding site |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Juvenile osteochondrosis of os tibiale (disorder) |
Finding site |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Juvenile osteochondrosis of tibial tuberosity of bilateral knees (disorder) |
Finding site |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Juvenile osteochondrosis of tarsal navicular |
Finding site |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Juvenile osteochondrosis of fifth metatarsal |
Finding site |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Juvenile osteochondrosis of primary patellar center |
Finding site |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Juvenile osteochondrosis of hand (disorder) |
Finding site |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |