From HPO
Flattened metacarpal heads- MedGen UID:
- 868729
- •Concept ID:
- C4023134
- •
- Anatomical Abnormality
Abnormally flat shape of the heads of the metacarpal bones.
Flattened metatarsal heads- MedGen UID:
- 870783
- •Concept ID:
- C4025240
- •
- Anatomical Abnormality
Abnormally flat shape of the heads of the metatarsal bones.
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).
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).
Osteoarthritis, hip- MedGen UID:
- 14530
- •Concept ID:
- C0029410
- •
- Disease or Syndrome
Osteoarthritis of the hip joint.
Spondyloepiphyseal dysplasia- MedGen UID:
- 20916
- •Concept ID:
- C0038015
- •
- Finding
A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses).
Platyspondyly- MedGen UID:
- 335010
- •Concept ID:
- C1844704
- •
- Finding
A flattened vertebral body shape with reduced distance between the vertebral endplates.
- Abnormality of limbs
- Abnormality of the musculoskeletal system
- Growth abnormality