From HPO
Protrusio acetabuli- MedGen UID:
- 98369
- •Concept ID:
- C0409495
- •
- Anatomical Abnormality
Intrapelvic bulging of the medial acetabular wall.
Tibial bowing- MedGen UID:
- 332360
- •Concept ID:
- C1837081
- •
- Finding
A bending or abnormal curvature of the tibia.
Pulmonary arterial hypertension- MedGen UID:
- 425404
- •Concept ID:
- C2973725
- •
- Disease or Syndrome
Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.
Disproportionate short-limb short stature- MedGen UID:
- 342370
- •Concept ID:
- C1849937
- •
- Finding
A type of disproportionate short stature characterized by a short limbs but an average-sized trunk.
Neonatal short-limb short stature- MedGen UID:
- 337984
- •Concept ID:
- C1850171
- •
- Finding
A type of short-limbed dwarfism that is manifest beginning in the neonatal period.
Hearing impairment- MedGen UID:
- 235586
- •Concept ID:
- C1384666
- •
- Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Dentinogenesis imperfecta- MedGen UID:
- 8313
- •Concept ID:
- C0011436
- •
- Congenital Abnormality
Developmental dysplasia of dentin.
Recurrent fractures- MedGen UID:
- 42094
- •Concept ID:
- C0016655
- •
- Injury or Poisoning
The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).
Kyphosis- MedGen UID:
- 44042
- •Concept ID:
- C0022821
- •
- Anatomical Abnormality
Exaggerated anterior convexity of the thoracic vertebral column.
Micrognathia- MedGen UID:
- 44428
- •Concept ID:
- C0025990
- •
- Congenital Abnormality
Developmental hypoplasia of the mandible.
Platybasia- MedGen UID:
- 45959
- •Concept ID:
- C0032209
- •
- Congenital Abnormality
A developmental malformation of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward such that there is an abnormal flattening of the skull base.
Scoliosis- MedGen UID:
- 11348
- •Concept ID:
- C0036439
- •
- Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Frontal bossing- MedGen UID:
- 67453
- •Concept ID:
- C0221354
- •
- Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Thin ribs- MedGen UID:
- 98095
- •Concept ID:
- C0426818
- •
- Finding
Ribs with a reduced diameter.
Slender long bone- MedGen UID:
- 331446
- •Concept ID:
- C1833144
- •
- Finding
Reduced diameter of a long bone.
Decreased calvarial ossification- MedGen UID:
- 322270
- •Concept ID:
- C1833762
- •
- Finding
Abnormal reduction in ossification of the calvaria (roof of the skull consisting of the frontal bone, parietal bones, temporal bones, and occipital bone).
Bowing of limbs due to multiple fractures- MedGen UID:
- 376722
- •Concept ID:
- C1850178
- •
- Finding
Curvature of the shafts of the long bones due to multiple fractures.
Multiple prenatal fractures- MedGen UID:
- 377844
- •Concept ID:
- C1853171
- •
- Finding
The presence of bone fractures in the prenatal period that are diagnosed at birth or before.
Biconcave vertebral bodies- MedGen UID:
- 383834
- •Concept ID:
- C1856087
- •
- Finding
Exaggerated concavity of the anterior or posterior surface of the vertebral body, i.e., the upper and lower vertebral endplates are hollowed inward.
Severe generalized osteoporosis- MedGen UID:
- 347884
- •Concept ID:
- C1859443
- •
- Disease or Syndrome
Severe degree of osteoporosis.
Wide anterior fontanel- MedGen UID:
- 400926
- •Concept ID:
- C1866134
- •
- Finding
Enlargement of the anterior fontanelle with respect to age-dependent norms.
Wormian bones- MedGen UID:
- 766814
- •Concept ID:
- C3553900
- •
- Congenital Abnormality
The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium.
Basilar impression- MedGen UID:
- 1639127
- •Concept ID:
- C4551802
- •
- Congenital Abnormality
Abnormal elevation of the floor of the posterior fossa including occipital condyles and foramen magnum.
Popcorn calcification- MedGen UID:
- 1053362
- •Concept ID:
- CN378017
- •
- Finding
Popcorn calcifications are areas of amorphous calcifications often with rings and arcs that resemble popped corn kernels in the metaphysis and epiphysis around the growth plate.
Triangular face- MedGen UID:
- 324383
- •Concept ID:
- C1835884
- •
- Finding
Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin.
Blue sclerae- MedGen UID:
- 154236
- •Concept ID:
- C0542514
- •
- Finding
An abnormal bluish coloration of the sclera.
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of the cardiovascular system
- Abnormality of the eye
- Abnormality of the musculoskeletal system
- Ear malformation
- Growth abnormality