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Items: 19

1.

Osteoarthritis susceptibility 1

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). [from GTR]

MedGen UID:
45244
Concept ID:
C0029408
Disease or Syndrome
2.

Osteoarthritis

MedGen UID:
505348
Concept ID:
CN002503
Finding
3.

Pain

An unpleasant sensation induced by noxious stimuli which are detected by NERVE ENDINGS of NOCICEPTIVE NEURONS. [from MeSH]

MedGen UID:
45282
Concept ID:
C0030193
Sign or Symptom
4.

Pain

MedGen UID:
880950
Concept ID:
CN236637
Disease or Syndrome
5.

Narrowing

MedGen UID:
839288
Concept ID:
C3854333
Anatomical Abnormality
6.

Pathogenesis

The pathologic, physiologic, or biochemical mechanism resulting in the development of a disease or morbid process. [from NCI]

MedGen UID:
195936
Concept ID:
C0699748
Pathologic Function
7.

Knee pain

An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the knee. [from HPO]

MedGen UID:
65421
Concept ID:
C0231749
Finding
8.

Polyarticular arthritis

An arthritis affecting five or more separate joints. [from NCI]

MedGen UID:
56408
Concept ID:
C0162323
Disease or Syndrome
9.

Rheumatism

Disorders of connective tissue, especially the joints and related structures, characterized by inflammation, degeneration, or metabolic derangement. [from MeSH]

MedGen UID:
48447
Concept ID:
C0035435
Disease or Syndrome
10.

Diseases in Twins

Disorders affecting TWINS, one or both, at any age. [from MeSH]

MedGen UID:
41612
Concept ID:
C0012675
Disease or Syndrome
11.

Arthropathy

An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join. [from HPO]

MedGen UID:
7190
Concept ID:
C0022408
Disease or Syndrome
12.

Disorder of musculoskeletal system

A category of diseases that involve muscles and bones. [from NCI]

MedGen UID:
6471
Concept ID:
C0026857
Disease or Syndrome
13.

Arthritis

Acute or chronic inflammation of JOINTS. [from MeSH]

MedGen UID:
2043
Concept ID:
C0003864
Disease or Syndrome
14.

Arthritis hand function test score

MedGen UID:
754801
Concept ID:
C2959620
Finding
15.

Pain finding at anatomical site

MedGen UID:
630640
Concept ID:
C0458087
Sign or Symptom
16.

Heberden nodes with arthropathy

MedGen UID:
625517
Concept ID:
C0452158
Disease or Syndrome
17.

Disorder of patellofemoral joint

MedGen UID:
592323
Concept ID:
C0409325
Disease or Syndrome
18.

Arthropathy of joint of hand

MedGen UID:
510474
Concept ID:
C0158234
Disease or Syndrome
19.

Osteoarthritis of the first carpometacarpal joint

MedGen UID:
488890
Concept ID:
C0409956
Disease or Syndrome
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