Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Late closure of anterior fontanel (finding) |
Interprets |
False |
Bone formation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Decreased osteoblast function (finding) |
Interprets |
False |
Bone formation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Lack of ossification of exoccipital bone (disorder) |
Interprets |
True |
Bone formation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Lack of ossification of palatine bone |
Interprets |
True |
Bone formation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Lack of ossification of parietal bone |
Interprets |
True |
Bone formation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Incomplete ossification of interparietal bone |
Interprets |
True |
Bone formation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Lack of bone formation |
Interprets |
False |
Bone formation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Lack of ossification of premaxilla (disorder) |
Interprets |
True |
Bone formation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Osteoid formation disorder |
Interprets |
False |
Bone formation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Lack of ossification of presphenoid bone (disorder) |
Interprets |
True |
Bone formation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Epiphysis formation disorder |
Interprets |
False |
Bone formation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Early fontanel closure |
Interprets |
False |
Bone formation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Functional bone disorder |
Interprets |
False |
Bone formation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Reduced ossification (finding) |
Interprets |
False |
Bone formation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Late fontanel closure |
Interprets |
False |
Bone formation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
High bone mass osteogenesis imperfecta |
Interprets |
True |
Bone formation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Osteogenesis imperfecta type I (disorder) |
Interprets |
True |
Bone formation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Ehlers-Danlos and osteogenesis imperfecta syndrome |
Interprets |
True |
Bone formation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Osteogenesis imperfecta type III (disorder) |
Interprets |
True |
Bone formation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Osteogenesis imperfecta type IIA |
Interprets |
True |
Bone formation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Osteogenesis imperfecta, perinatal lethal |
Interprets |
True |
Bone formation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Osteogenesis imperfecta with blue sclerae AND dentinogenesis imperfecta |
Interprets |
True |
Bone formation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Osteogenesis imperfecta type IIB |
Interprets |
True |
Bone formation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Osteogenesis imperfecta |
Interprets |
True |
Bone formation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Osteogenesis imperfecta, type IV B |
Interprets |
True |
Bone formation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Osteogenesis imperfecta type IV (disorder) |
Interprets |
True |
Bone formation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Osteoporosis with pseudoglioma |
Interprets |
True |
Bone formation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe global developmental delay, osteogenesis imperfecta, presence of wormian bones, seizures, ocular abnormalities (blue sclerae, optic atrophy, retinal detachment), and dysmorphic facial features (including frontal bossing, low anterior hairline, medial flare of the eyebrows, long eyelashes, hypertelorism, depressed nasal bridge, and low-set, large ears). There have been no further descriptions in the literature since 1994. |
Interprets |
True |
Bone formation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Osteogenesis imperfecta, type IV A (disorder) |
Interprets |
True |
Bone formation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Osteogenesis imperfecta, recessive perinatal lethal |
Interprets |
True |
Bone formation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Osteogenesis imperfecta with blue sclerae AND normal teeth |
Interprets |
True |
Bone formation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Osteogenesis imperfecta, dominant perinatal lethal |
Interprets |
True |
Bone formation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts |
Interprets |
True |
Bone formation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Reduced ossification (finding) |
Interprets |
True |
Bone formation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Craniotabes |
Interprets |
True |
Bone formation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Osteogenesis imperfecta type 5 (disorder) |
Interprets |
True |
Bone formation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Osteogenesis imperfecta type IIC (disorder) |
Interprets |
True |
Bone formation |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |