From HPO
Exercise-induced myalgia- MedGen UID:
- 340638
- •Concept ID:
- C1850830
- •
- Sign or Symptom
The occurrence of an unusually high amount of muscle pain following exercise.
Mitral valve prolapse- MedGen UID:
- 7671
- •Concept ID:
- C0026267
- •
- Disease or Syndrome
One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle.
Loss of ambulation- MedGen UID:
- 332305
- •Concept ID:
- C1836843
- •
- Finding
Inability to walk in a person who previous had the ability to walk.
Scarring- MedGen UID:
- 3093
- •Concept ID:
- C0008767
- •
- Pathologic Function
A scar refers to a lesion in which wound, burn, or sore has not healed completely and fibrous connective tissue has developed.
Joint dislocation- MedGen UID:
- 41614
- •Concept ID:
- C0012691
- •
- Injury or Poisoning
Displacement or malalignment of joints.
Hypotonia- MedGen UID:
- 10133
- •Concept ID:
- C0026827
- •
- Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
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).
Muscle weakness- MedGen UID:
- 57735
- •Concept ID:
- C0151786
- •
- Finding
Reduced strength of muscles.
Joint hypermobility- MedGen UID:
- 336793
- •Concept ID:
- C1844820
- •
- Finding
The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.
Striae distensae- MedGen UID:
- 57541
- •Concept ID:
- C0152459
- •
- Acquired Abnormality
Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders.
Hyperextensible skin- MedGen UID:
- 66023
- •Concept ID:
- C0241074
- •
- Finding
A condition in which the skin can be stretched beyond normal, and then returns to its initial position.
Soft skin- MedGen UID:
- 336730
- •Concept ID:
- C1844592
- •
- Finding
Subjective impression of increased softness upon palpation of the skin.
- Abnormality of the cardiovascular system
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Constitutional symptom