From HPO
Arthralgia- MedGen UID:
- 13917
- •Concept ID:
- C0003862
- •
- Sign or Symptom
Joint pain.
Hip pain- MedGen UID:
- 1643075
- •Concept ID:
- C4551516
- •
- Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the hip.
Genu valgum- MedGen UID:
- 154364
- •Concept ID:
- C0576093
- •
- Anatomical Abnormality
The legs angle inward, such that the knees are close together and the ankles far apart.
Short metacarpal- MedGen UID:
- 323064
- •Concept ID:
- C1837084
- •
- Anatomical Abnormality
Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.
Delayed ossification of carpal bones- MedGen UID:
- 374771
- •Concept ID:
- C1841684
- •
- Finding
Ossification of carpal bones occurs later than age-adjusted norms.
Broad femoral neck- MedGen UID:
- 376496
- •Concept ID:
- C1849016
- •
- Finding
An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).
Coxa vara- MedGen UID:
- 1790477
- •Concept ID:
- C5551440
- •
- Anatomical Abnormality
Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees.
Short stature- MedGen UID:
- 87607
- •Concept ID:
- C0349588
- •
- Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Arthralgia of the hip- MedGen UID:
- 5556
- •Concept ID:
- C0019559
- •
- Sign or Symptom
Joint pain affecting the hip.
Multiple epiphyseal dysplasia- MedGen UID:
- 6461
- •Concept ID:
- C0026760
- •
- Congenital Abnormality
A rare group of primary bone dysplasia disorders characterized by the association of epiphyseal anomalies of long bones causing joint pain early in life, recurrent osteochondritis and early arthrosis. This group contains an heterogeneous group of diseases with variable expression. Common reported clinical signs include waddling gait and pain at onset, and moderate short stature. Some forms are mainly limited to the femoral epiphyses, while several other syndromes are characterized by the association of multiple epiphyseal dysplasia with other clinical manifestations such as myopia, deafness and facial dysmorphism. Diagnosis relies on identification of the radiological features.
Epiphyseal dysplasia- MedGen UID:
- 95932
- •Concept ID:
- C0392476
- •
- Congenital Abnormality
Premature osteoarthritis- MedGen UID:
- 371977
- •Concept ID:
- C1835121
- •
- Disease or Syndrome
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).
Metaphyseal irregularity- MedGen UID:
- 325478
- •Concept ID:
- C1838662
- •
- Finding
Irregularity of the normally smooth surface of the metaphyses.
Hypoplasia of the capital femoral epiphysis- MedGen UID:
- 374176
- •Concept ID:
- C1839254
- •
- Finding
Underdevelopment of the proximal epiphysis of the femur.
Irregular epiphyses- MedGen UID:
- 337584
- •Concept ID:
- C1846449
- •
- Finding
An alteration of the normally smooth contour of the epiphysis leading to an irregular appearance.
Small epiphyses- MedGen UID:
- 339612
- •Concept ID:
- C1846803
- •
- Finding
Reduction in the size or volume of epiphyses.
Delayed tarsal ossification- MedGen UID:
- 339625
- •Concept ID:
- C1846853
- •
- Finding
Delayed maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.
- Abnormality of limbs
- Abnormality of the musculoskeletal system
- Constitutional symptom
- Growth abnormality