An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the lower back.

Loss of the ability to control the urinary bladder leading to involuntary urination.

Infrequent or difficult evacuation of feces.

Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.

Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.

Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.

An unintentional, oscillating to-and-fro muscle movement affecting the hand.

Inability to perceive painful stimuli.

A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient.

Reduced ability to perceive painful stimuli.

An increased tendency to fractures following trauma, with fractures occurring without pain.

A reduced ability to discriminate between different temperatures.

The inflammation of one or more joints caused by any infectious pathogen within the joint space. Symptoms include pain, stiffness, and decreased range of motion in the affected joint.

The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).

Any disorder of the joints.

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).

Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism.

Periodic (episodic or recurrent) bouts of fever.

Inability to sweat.

A type of digital ulcer that manifests as an open sore on the surface of the skin at the tip of a finger or toe.