| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Diaphanospondylodysostosis |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Lethal recessive chondrodysplasia |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Spondylocamptodactyly syndrome |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy |
Finding site |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Leukoencephalopathy with metaphyseal chondrodysplasia syndrome |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Micromelic spondyloepimetaphyseal dysplasia |
Finding site |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Catel Manzke syndrome |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Chondrodysplasia punctata Toriello type |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Craniometadiaphyseal dysplasia wormian bone type |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
1 |
| 12q14 microdeletion syndrome |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Spondyloepimetaphyseal dysplasia aggrecan type |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Dyssegmental dysplasia with glaucoma syndrome |
Finding site |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Cheirospondyloenchondromatosis |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Osteopenia, intellectual disability, sparse hair syndrome |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Lethal Larsen-like syndrome |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Deafness with cataract and skeletal anomaly syndrome |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
2 |
| X-linked dominant chondrodysplasia Chassaing Lacombe type |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Eiken syndrome |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Hyperplastic chondrodystrophy |
Finding site |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Bowed tibia, radial anomaly, osteopenia, fracture syndrome |
Finding site |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Grant syndrome |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Autosomal recessive distal osteolysis syndrome |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Metaphyseal dysplasia Braun Tinschert type |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Exostosis, anetoderma, brachydactyly type E syndrome |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Microcephalic osteodysplastic dysplasia Saul Wilson type |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Spondyloepiphyseal dysplasia with congenital joint dislocations |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Schimke immuno-osseous dysplasia |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Karsch Neugebauer syndrome |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
4 |
| Mesomelic dysplasia Savarirayan type |
Finding site |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Mesomelic dysplasia of hypoplastic ulna and fibula type |
Finding site |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Atelosteogenesis type 1 |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Spondyloepiphyseal dysplasia tarda Kohn type |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Spondyloocular syndrome |
Finding site |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Atelosteogenesis type 3 |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Infantile osteopetrosis with neuroaxonal dysplasia syndrome |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Short rib-polydactyly syndrome, Majewski type |
Finding site |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Ehlers-Danlos syndrome with periventricular heterotopia |
Finding site |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Ehlers-Danlos syndrome cardiac valvular type |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Kozlowski spondylometaphyseal dysplasia |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Ehlers-Danlos syndrome kyphoscoliotic and deafness type |
Finding site |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Epilepsy, microcephaly, skeletal dysplasia syndrome |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Juberg Hayward syndrome |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Ehlers-Danlos syndrome musculocontractural type |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Ehlers-Danlos and osteogenesis imperfecta syndrome |
Finding site |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Bone dysplasia Azouz type |
Finding site |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Lipodystrophy, intellectual disability, deafness syndrome |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Ehlers-Danlos syndrome kyphoscoliotic type |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Scypho-patellar dysplasia |
Finding site |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Coxoauricular syndrome |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Spondyloepimetaphyseal dysplasia matrilin-3 type |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Dyschondrosteosis and nephritis syndrome |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Bone dysplasia lethal Holmgren type |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Absent thumb with short stature and immunodeficiency syndrome |
Finding site |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Smith McCort dysplasia |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Dysspondyloenchondromatosis |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Spondyloepimetaphyseal dysplasia Irapa type |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Czech dysplasia metatarsal type |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Spondyloenchondrodysplasia with immune dysregulation |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Periodontitis co-occurrent with Ehlers-Danlos syndrome type 4 |
Finding site |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Dermatofibrosis lenticularis disseminata |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Camptomelic dysplasia |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Robinow-like syndrome |
Finding site |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Van den Bosch syndrome |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Craniolenticulosutural dysplasia |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Closed reduction of fracture of bone and internal fixation using bone plate |
Procedure site - Direct |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Closed reduction of fracture of bone and internal fixation using bone plate |
Procedure site - Direct |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Short stature Brussels type |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Chondrodysplasia with disorder of sex development syndrome |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Dacryocystitis and osteopoikilosis syndrome |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Ehlers-Danlos syndrome kyphoscoliotic and deafness type |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Doughnut lesion of calvaria and bone fragility syndrome |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Coloboma of macula with brachydactyly type B syndrome |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Campomelia Cumming type |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Ehlers-Danlos syndrome progeroid type |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Camptodactyly and tall stature with scoliosis and hearing loss syndrome |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Ossification anomaly with psychomotor developmental delay syndrome |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome |
Finding site |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Frank-Ter Haar syndrome |
Finding site |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Microcephalic osteodysplastic primordial dwarfism types I and III |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Osteopenia, intellectual disability, sparse hair syndrome |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Preaxial deficiency, postaxial polydactyly, hypospadias syndrome |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Global developmental delay, osteopenia, ectodermal defect syndrome |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
1 |
| McCune Albright syndrome |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Ehlers-Danlos and osteogenesis imperfecta syndrome |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Brittle cornea syndrome |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
1 |
| Splenogonadal fusion, limb defect, micrognathia syndrome |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
5 |
| Deafness with skeletal dysplasia and lip granuloma syndrome |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
2 |
| Osteoporosis and oculocutaneous hypopigmentation syndrome |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Puerto Rican infant hypotonia syndrome |
Finding site |
True |
Bone structure |
Inferred relationship |
Existential restriction modifier |
3 |
| Brachyolmia type 1 Toledo type |
Finding site |
False |
Bone structure |
Inferred relationship |
Existential restriction modifier |
1 |