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Topic Review
CYP19A1 Gene
Cytochrome P450 Family 19 Subfamily A Member 1
  • 830
  • 23 Dec 2020
Topic Review
Myoclonus-Dystonia
Myoclonus-dystonia is a movement disorder that typically affects the neck, torso, and arms. Individuals with this condition experience quick, involuntary muscle jerks or twitches (myoclonus). About half of individuals with myoclonus-dystonia develop dystonia, which is involuntary tensing of various muscles that causes unusual positioning. In myoclonus-dystonia, dystonia often affects one or both hands, causing writer's cramp, or the neck, causing the head to turn (torticollis).
  • 830
  • 23 Dec 2020
Topic Review
Weissenbacher-Zweymüller Syndrome
Infants born with Weissenbacher-Zweymüller syndrome are smaller than average because the bones in their arms and legs are unusually short. The thigh and upper arm bones are wider than usual at the ends (described as dumbbell-shaped), and the bones of the spine (vertebrae) may also be abnormally shaped. High-frequency hearing loss occurs in some cases. Distinctive facial features include wide-set protruding eyes, a small and upturned nose with a flat bridge, and a small lower jaw. Some affected infants are born with an opening in the roof of the mouth (a cleft palate). Most people with Weissenbacher-Zweymüller syndrome experience significant "catch-up" growth in the bones of the arms and legs during childhood. As a result, adults with this condition are not unusually short. However, affected adults still have other signs and symptoms of Weissenbacher-Zweymüller syndrome, including distinctive facial features and hearing loss.
  • 830
  • 23 Dec 2020
Topic Review
ZFP57 Gene
ZFP57 zinc finger protein
  • 830
  • 24 Dec 2020
Topic Review
Donohue Syndrome
Donohue syndrome is a rare disorder characterized by severe insulin resistance, a condition in which the body's tissues and organs do not respond properly to the hormone insulin. Insulin normally helps regulate blood sugar levels by controlling how much sugar (in the form of glucose) is passed from the bloodstream into cells to be used as energy. Severe insulin resistance leads to problems with regulating blood sugar levels and affects the development and function of organs and tissues throughout the body.
  • 830
  • 24 Dec 2020
Topic Review
Dyskeratosis Congenita
Dyskeratosis congenita is a disorder that can affect many parts of the body. There are three features that are characteristic of this disorder: fingernails and toenails that grow poorly or are abnormally shaped (nail dystrophy); changes in skin coloring (pigmentation), especially on the neck and chest, in a pattern often described as "lacy"; and white patches inside the mouth (oral leukoplakia).
  • 830
  • 24 Dec 2020
Topic Review
Primary Sclerosing Cholangitis
Primary sclerosing cholangitis is a condition that affects the bile ducts. These ducts carry bile (a fluid that helps to digest fats) from the liver, where bile is produced, to the gallbladder, where it is stored, and to the small intestine, where it aids in digestion. Primary sclerosing cholangitis occurs because of inflammation in the bile ducts (cholangitis) that leads to scarring (sclerosis) and narrowing of the ducts. As a result, bile cannot be released to the gallbladder and small intestine, and it builds up in the liver.
  • 830
  • 24 Dec 2020
Topic Review
Progressive Familial Intrahepatic Cholestasis
Progressive familial intrahepatic cholestasis (PFIC) is a disorder that causes progressive liver disease, which typically leads to liver failure. In people with PFIC, liver cells are less able to secrete a digestive fluid called bile. The buildup of bile in liver cells causes liver disease in affected individuals.
  • 830
  • 24 Dec 2020
Topic Review
PKP2 Gene
plakophilin 2
  • 830
  • 25 Dec 2020
Topic Review
GNPTAB Gene
N-acetylglucosamine-1-phosphate transferase subunits alpha and beta
  • 829
  • 22 Dec 2020
Topic Review
Citrullinemia
Citrullinemia is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. Two types of citrullinemia have been described; they have different signs and symptoms and are caused by mutations in different genes.
  • 829
  • 24 Dec 2020
Topic Review
ABCG5 Gene
ATP binding cassette subfamily G member 5
  • 829
  • 24 Dec 2020
Topic Review
FAH Gene
Fumarylacetoacetate hydrolase: The FAH gene provides instructions for making an enzyme called fumarylacetoacetate hydrolase. 
  • 829
  • 25 Dec 2020
Topic Review
Trisomy 18
Trisomy 18, also called Edwards syndrome, is a chromosomal condition associated with abnormalities in many parts of the body.
  • 828
  • 23 Dec 2020
Topic Review
Lymphedema-Distichiasis Syndrome
Lymphedema-distichiasis syndrome is a condition that affects the normal function of the lymphatic system, which is a part of the circulatory and immune systems. The lymphatic system produces and transports fluids and immune cells throughout the body.
  • 828
  • 24 Dec 2020
Topic Review
Complete LCAT Deficiency
Complete LCAT deficiency is a disorder that primarily affects the eyes and kidneys.
  • 828
  • 24 Dec 2020
Topic Review
GJB1 Gene
Gap junction protein beta 1
  • 828
  • 25 Dec 2020
Topic Review
PHKB Gene
phosphorylase kinase regulatory subunit beta
  • 828
  • 25 Dec 2020
Topic Review
Glaucoma Heritability
Glaucoma, a leading cause of irreversible blindness globally, is a degenerative optic neuropathy characterized by progressive visual field defects corresponding to retinal ganglion cell and retinal nerve fiber layer (RNFL) degeneration.
  • 828
  • 06 Aug 2021
Topic Review
Guillain-Barré Syndrome
Guillain-Barré syndrome is an autoimmune disorder that affects the nerves.
  • 827
  • 23 Dec 2020
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