Chromosome Disorders
Categorical breakdown of terms falling inder the category of Chromosome Disorders. Sub categories will become more specific in nature to the terms listed for Chromosome Disorders.
Sub-Categories
Terms
Angelman Syndrome - A syndrome characterized by multiple abnormalities, MENTAL RETARDATION, and movement disorders. Pres...
Beckwith-Wiedemann Syndrome - A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACR...
Branchio-Oto-Renal Syndrome - An autosomal dominant disorder manifested by various combinations of preauricular pits, branchial fi...
Chromosome Disorders - Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing...
Cri-du-Chat Syndrome - An infantile syndrome characterized by a cat-like cry, failure to thrive, microcephaly, MENTAL RETAR...
De Lange Syndrome - A syndrome characterized by growth retardation, severe MENTAL RETARDATION, short stature, a low-pitc...
Down Syndrome - A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chro...
Fragile X Syndrome - A condition characterized genotypically by mutation of the distal end of the long arm of the X chrom...
Gonadal Dysgenesis, 46,XY - This type of gonadal defect is characterized by a female phenotype, normal to tall stature, bilatera...
Gonadal Dysgenesis, Mixed - A type of defective gonadal development in patients with a wide spectrum of chromosomal mosaic varia...
Holoprosencephaly - Anterior midline brain, cranial, and facial malformations resulting from the failure of the embryoni...
Jacobsen Distal 11q Deletion Syndrome - A clinically recognized malformation condition caused by a distal 11q deletion. The features of the ...
Klinefelter Syndrome - A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, s...
Orofaciodigital Syndromes - Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome...
Prader-Willi Syndrome - An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosom...
Rubinstein-Taybi Syndrome - A chromosomal disorder characterized by MENTAL RETARDATION, broad thumbs, webbing of fingers and toe...
Sex Chromosome Disorders - Clinical conditions caused by an abnormal sex chromosome constitution (SEX CHROMOSOME ABERRATIONS) i...
Silver-Russell Syndrome - Genetically and clinically heterogeneous disorder characterized by low birth weight, postnatal growt...
Turner Syndrome - A syndrome of defective gonadal development in phenotypic women with a karyotype of sex chromosome m...
WAGR Syndrome - A contiguous gene syndrome associated with hemizygous deletions of chromosome region 11p13. The cond...
Williams Syndrome - A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the...
Wolf-Hirschhorn Syndrome - A syndrome caused by large deletions of the telomereic end of the short arm of CHROMOSOME 4 (4p) in ...
Common Chronic Illnesses
Coronary Disease
An imbalance between myocardial functional requirements and the capacity of the CORONARY VESSELS to supply sufficient blood flow. It is a form of MYOCARDIAL ISCHEMIA (insufficient blood supply to the heart muscle) caused by a decreased capacity of the coronary vessels.
Diabetes Mellitus, Type 1
A subtype of DIABETES MELLITUS that is characterized by INSULIN deficiency. It is manifested by the sudden onset of severe HYPERGLYCEMIA, rapid progression to DIABETIC KETOACIDOSIS, and DEATH unless treated with insulin. The disease may occur at any age, but is most common in childhood or adolescence.
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Diabetes Mellitus, Type 2
A subclass of DIABETES MELLITUS that is not INSULIN-responsive or dependent (NIDDM). It is characterized initially by INSULIN RESISTANCE and HYPERINSULINEMIA; and eventually by GLUCOSE INTOLERANCE; HYPERGLYCEMIA; and overt diabetes. Type II diabetes mellitus is no longer considered a disease exclusively found in adults. Patients seldom develop KETOSIS but often exhibit OBESITY.
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Hypertension
Persistently high systemic arterial BLOOD PRESSURE. Based on multiple readings (BLOOD PRESSURE DETERMINATION), hypertension is currently defined as when SYSTOLIC PRESSURE is consistently greater than 140 mm Hg or when DIASTOLIC PRESSURE is consistently 90 mm Hg or more.
Mesothelioma
A tumor derived from mesothelial tissue (peritoneum, pleura, pericardium). It appears as broad sheets of cells, with some regions containing spindle-shaped, sarcoma-like cells and other regions showing adenomatous patterns. Pleural mesotheliomas have been linked to exposure to asbestos. (Dorland, 27th ed)
Osteoarthritis
A progressive, degenerative joint disease, the most common form of arthritis, especially in older persons. The disease is thought to result not from the aging process but from biochemical changes and biomechanical stresses affecting articular cartilage. In the foreign literature it is often called osteoarthrosis deformans.