C1850178 |
Bowing of limbs due to multiple fractures
|
phenotype |
|
Finding
|
|
Abnormality of the skeletal system
|
1 |
1 |
C0410935 |
Wide cranial sutures
|
phenotype |
|
Finding
|
|
Abnormality of head or neck; Abnormality of the skeletal system
|
1 |
1 |
C4015948 |
OSTEOGENESIS IMPERFECTA, TYPE III/IV
|
disease |
|
Finding
|
|
|
1 |
1 |
C1970497 |
Crumpled long bones
|
phenotype |
|
Finding
|
|
Abnormality of the skeletal system
|
1 |
1 |
C0240231 |
Fractures of the long bones
|
phenotype |
Wounds and Injuries
|
Finding
|
|
Abnormality of the skeletal system
|
1 |
1 |
C1833762 |
Decreased calvarial ossification
|
phenotype |
|
Finding
|
|
Abnormality of head or neck; Abnormality of the skeletal system
|
1 |
1 |
C1850171 |
Neonatal short-limb short stature
|
phenotype |
|
Finding
|
|
Growth abnormality
|
1 |
1 |
C0268360 |
Osteogenesis imperfecta, recessive perinatal lethal
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome; Congenital Abnormality
|
disease of anatomical entity
|
|
2 |
51 |
C0016663 |
Pathological fracture
|
phenotype |
Wounds and Injuries
|
Pathologic Function
|
|
Abnormality of the skeletal system
|
2 |
2 |
C1860245 |
Cranial asymmetry
|
phenotype |
|
Finding
|
|
Abnormality of head or neck; Abnormality of the skeletal system
|
3 |
3 |
C1866730 |
Rhizomelia
|
disease |
|
Congenital Abnormality
|
|
Abnormality of limbs; Abnormality of the skeletal system; Growth abnormality
|
4 |
6 |
C1867114 |
Craniofacial disproportion
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
4 |
5 |
C0004045 |
Asphyxia Neonatorum
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the respiratory system
|
4 |
4 |
C1837402 |
Flat occiput
|
phenotype |
|
Finding
|
|
Abnormality of head or neck; Abnormality of the skeletal system
|
5 |
6 |
C1866134 |
Wide anterior fontanel
|
phenotype |
|
Finding
|
|
Abnormality of head or neck; Abnormality of the skeletal system
|
6 |
5 |
C0565599 |
Maternal hypertension
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases
|
Disease or Syndrome
|
|
Abnormality of prenatal development or birth
|
8 |
8 |
C0542514 |
Blue sclera
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Finding
|
|
Abnormality of the eye
|
9 |
13 |
C0857379 |
Abnormality of the pinna
|
phenotype |
|
Finding
|
|
Abnormality of the ear
|
9 |
9 |
C1849089 |
Broad forehead
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
11 |
13 |
C1835884 |
Triangular face
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
13 |
16 |
C0410528 |
Skeletal dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
|
|
16 |
58 |
C1857486 |
Low-set, posteriorly rotated ears
|
phenotype |
|
Finding
|
|
Abnormality of the ear
|
17 |
19 |
C0029453 |
Osteopenia
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
|
Abnormality of the skeletal system
|
23 |
23 |
C1840077 |
Anteverted nostril
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
30 |
35 |
C1836542 |
Depressed nasal bridge
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
31 |
39 |