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Items: 9

1.

MIGRAINE, SUSCEPTIBILITY TO

MedGen UID:
864475
Concept ID:
C4016038
Finding
2.

Estrogen receptor mutant, temperature-sensitive

MedGen UID:
864474
Concept ID:
C4016037
Finding
3.

OSTEOARTHRITIS SUSCEPTIBILITY 1

MedGen UID:
854604
Concept ID:
C3887876
Finding
4.

ESTROGEN RESISTANCE

MedGen UID:
815580
Concept ID:
C3809250
Disease or Syndrome
5.

Atherosclerosis, susceptibility to

MedGen UID:
377035
Concept ID:
C1851473
Finding
6.

Hdl cholesterol, augmented response of, to hormone replacement

MedGen UID:
377033
Concept ID:
C1851468
Finding
7.

Estrogen resistance

MedGen UID:
338701
Concept ID:
C1851467
Disease or Syndrome
8.

MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO

MedGen UID:
318680
Concept ID:
C1832662
Finding
9.

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 OMIM]

MedGen UID:
45244
Concept ID:
C0029408
Disease or Syndrome
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