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 |