From HPO
Arthralgia- MedGen UID:
- 13917
- •Concept ID:
- C0003862
- •
- Sign or Symptom
Joint pain.
Knee pain- MedGen UID:
- 65421
- •Concept ID:
- C0231749
- •
- Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the knee.
Abnormality of the knee- MedGen UID:
- 871199
- •Concept ID:
- C4025676
- •
- Anatomical Abnormality
An abnormality of the knee joint or surrounding structures.
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.
Osteoarthritis- MedGen UID:
- 45244
- •Concept ID:
- C0029408
- •
- Disease or Syndrome
Osteoarthritis (OA) is a degenerative disease of the joints characterized by degradation of the hyaline articular cartilage and remodeling of the subchondral bone with sclerosis (Meulenbelt et al., 2006). Clinical problems include pain and joint stiffness often leading to significant disability and joint replacement. Osteoarthritis exhibits a clear predilection for specific joints; it appears most commonly in the hip and knee joints and lumbar and cervical spine, as well as in the distal interphalangeal and the first carpometacarpal (base of thumb) and proximal interphalangeal joints of the hand; however, patients with osteoarthritis may have 1, a few, or all of these sites affected (Stefansson et al., 2003). According to a conservative estimate, greater than 70% of the population of the United States at age 65 years is affected by the disease, reflecting its age dependence.
Genetic Heterogeneity of Susceptibility to Osteoarthritis
Susceptibility to osteoarthritis has been associated with variation in other genes: OS2 (140600) with variation in the MATN3 gene (602109) on chromosome 2p24; OS3 (607850) with variation in the ASPN gene (608135) on chromosome 9q22; and OS5 (612400) with variation in the GDF5 gene (601146) on chromosome 20q11.
Other susceptibility loci for osteoarthritis have been mapped to chromosomes 2q33 (OS4; 610839) and 3p24 (OS6; 612401).
Intervertebral disk calcification- MedGen UID:
- 451050
- •Concept ID:
- C0410607
- •
- Disease or Syndrome
The presence of abnormal calcium deposition of the intervertebral disk.
Schmorl node- MedGen UID:
- 98380
- •Concept ID:
- C0410632
- •
- Finding
A Schmorl's node is the herniation of nucleus pulposus through the cartilaginous and bony end plate into the body of the adjacent vertebra.
Irregular vertebral endplates- MedGen UID:
- 331233
- •Concept ID:
- C1842153
- •
- Finding
An irregular surface of the vertebral end plates, which are normally relatively smooth.
Flat capital femoral epiphysis- MedGen UID:
- 334001
- •Concept ID:
- C1842155
- •
- Finding
An abnormal flattening 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.
Flat distal femoral epiphysis- MedGen UID:
- 867240
- •Concept ID:
- C4021599
- •
- Anatomical Abnormality
An abnormal flattening of the distal epiphysis of femur.
Irregular distal femoral epiphysis- MedGen UID:
- 870601
- •Concept ID:
- C4025050
- •
- Anatomical Abnormality
Anomaly of the contour of the Distal epiphysis of femur such that its normally smooth appearance is irregular.
- Abnormality of limbs
- Abnormality of the musculoskeletal system
- Constitutional symptom