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Items: 4

1.

Pulmonary disease, chronic obstructive, rate of decline of lung function in

MedGen UID:
413985
Concept ID:
C2751329
Disease or Syndrome
2.

EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF

MedGen UID:
393877
Concept ID:
C2675760
Finding; Gene or Genome
3.

Preterm premature rupture of membranes

Preterm premature rupture of the membranes is defined as rupture of membranes before 37 weeks of gestation, which occurs in approximately 3% of all pregnancies and accounts for about one-third of spontaneous preterm births (ACOG Practice Bulletin, 1998). Srinivas and Macones (2005) reviewed the pathophysiology of PPROM and noted that familial clustering and ethnic differences in the incidence of PPROM suggest possible genetic influences. [from OMIM]

MedGen UID:
147582
Concept ID:
C0729264
Pathologic Function
4.

Werner syndrome

Werner syndrome is characterized by the premature appearance of features associated with normal aging and cancer predisposition. Individuals with Werner syndrome develop normally until the end of the first decade. The first sign is the lack of a growth spurt during the early teen years. Early findings (usually observed in the 20s) include loss and graying of hair, hoarseness, and scleroderma-like skin changes, followed by bilateral ocular cataracts, type 2 diabetes mellitus, hypogonadism, skin ulcers, and osteoporosis in the 30s. Myocardial infarction and cancer are the most common causes of death; the mean age of death in individuals with Werner syndrome is 54 years. [from GeneReviews]

MedGen UID:
12147
Concept ID:
C0043119
Disease or Syndrome
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