From HPO
Back pain- MedGen UID:
- 2530
- •Concept ID:
- C0004604
- •
- Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back.
Increased urinary disaccharide excretion- MedGen UID:
- 868660
- •Concept ID:
- C4023062
- •
- Finding
Increased concentration of disaccharide in the urine.
Broad tibial metaphyses- MedGen UID:
- 394795
- •Concept ID:
- C2678328
- •
- Finding
Gait disturbance- MedGen UID:
- 107895
- •Concept ID:
- C0575081
- •
- Finding
The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease.
Intervertebral space narrowing- MedGen UID:
- 78101
- •Concept ID:
- C0263870
- •
- Finding
Decreased height of the intervertebral disk.
Kyphoscoliosis- MedGen UID:
- 154361
- •Concept ID:
- C0575158
- •
- Anatomical Abnormality
An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.
Lumbar hyperlordosis- MedGen UID:
- 263149
- •Concept ID:
- C1184923
- •
- Finding
An abnormal accentuation of the inward curvature of the spine in the lumbar region.
Short femoral neck- MedGen UID:
- 373033
- •Concept ID:
- C1836184
- •
- Finding
An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).
Irregular vertebral endplates- MedGen UID:
- 331233
- •Concept ID:
- C1842153
- •
- Finding
An irregular surface of the vertebral end plates, which are normally relatively smooth.
Disproportionate short-trunk short stature- MedGen UID:
- 337580
- •Concept ID:
- C1846435
- •
- Finding
A type of disproportionate short stature characterized by a short trunk but a average-sized limbs.
Precocious costochondral ossification- MedGen UID:
- 341367
- •Concept ID:
- C1849049
- •
- Finding
Early ossification of the costochondral junction, which is the joint between the ribs and costal cartilage in the front of the rib cage.
Squared-off platyspondyly- MedGen UID:
- 376505
- •Concept ID:
- C1849051
- •
- Finding
Abnormal odontoid process morphology- MedGen UID:
- 351218
- •Concept ID:
- C1864794
- •
- Anatomical Abnormality
Abnormal structure of the odontoid process, which is a part of the C2 or axis vertebra and forms pivot of the structures forming the craniovertebral junction. The odontoid process is also known as the dens of the axis.
Childhood-onset short-trunk short stature- MedGen UID:
- 460184
- •Concept ID:
- C3148833
- •
- Finding
A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in childhood.
Short neck- MedGen UID:
- 99267
- •Concept ID:
- C0521525
- •
- Finding
Diminished length of the neck.
Opacification of the corneal stroma- MedGen UID:
- 602191
- •Concept ID:
- C0423250
- •
- Finding
Reduced transparency of the stroma of cornea.
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of the eye
- Abnormality of the genitourinary system
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Constitutional symptom