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Topic Review
PACS1 Syndrome
PACS1 syndrome is a condition in which all affected individuals have intellectual disability, speech and language problems, and a distinct facial appearance. Many affected individuals have additional neurological, behavioral, and health problems.
  • 981
  • 24 Dec 2020
Topic Review
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome is a condition characterized by abnormal electrical pathways in the heart that cause a disruption of the heart's normal rhythm (arrhythmia).  
  • 981
  • 24 Dec 2020
Topic Review
X-linked Acrogigantism
X-linked acrogigantism (X-LAG) is a condition that causes abnormally fast growth beginning early in life. Babies with this condition are a normal size at birth but begin to grow rapidly in infancy or early childhood, and affected children are taller than their peers.  
  • 981
  • 24 Dec 2020
Topic Review
Pendred Syndrome
Pendred syndrome is a disorder typically associated with hearing loss and a thyroid condition called a goiter.
  • 981
  • 24 Dec 2020
Topic Review
Ehlers-Danlos Syndrome
Ehlers-Danlos syndrome is a group of disorders that affect connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. Defects in connective tissues cause the signs and symptoms of these conditions, which range from mildly loose joints to life-threatening complications.
  • 981
  • 25 Dec 2020
Topic Review
Renpenning Syndrome
Renpenning syndrome is a disorder that almost exclusively affects males, causing developmental delay, moderate to severe intellectual disability, and distinctive physical features.
  • 980
  • 24 Dec 2020
Topic Review
BTK Gene
Bruton tyrosine kinase
  • 980
  • 24 Dec 2020
Topic Review
C3 Glomerulopathy
C3 glomerulopathy is a group of related conditions that cause the kidneys to malfunction. The major features of C3 glomerulopathy include high levels of protein in the urine (proteinuria), blood in the urine (hematuria), reduced amounts of urine, low levels of protein in the blood, and swelling in many areas of the body. Affected individuals may have particularly low levels of a protein called complement component 3 (or C3) in the blood.
  • 980
  • 24 Dec 2020
Topic Review
Sialuria
Sialuria is a rare disorder that has variable effects on development.
  • 980
  • 25 Dec 2020
Topic Review
Common Variable Immune Deficiency
Common variable immune deficiency (CVID) is a disorder that impairs the immune system.
  • 979
  • 24 Dec 2020
Topic Review
Camurati-Engelmann Disease
Camurati-Engelmann disease is a skeletal condition that is characterized by abnormally thick bones (hyperostosis) in the arms, legs, and skull.
  • 977
  • 24 Dec 2020
Topic Review
DOLK-congenital Disorder of Glycosylation
DOLK-congenital disorder of glycosylation (DOLK-CDG, formerly known as congenital disorder of glycosylation type Im) is an inherited condition that often affects the heart but can also involve other body systems. The pattern and severity of this disorder's signs and symptoms vary among affected individuals.
  • 977
  • 24 Dec 2020
Topic Review
FBXL4 Gene
F-box and leucine rich repeat protein 4
  • 977
  • 25 Dec 2020
Topic Review
Carney Complex
Carney complex is a disorder characterized by an increased risk of several types of tumors. Affected individuals also usually have changes in skin coloring (pigmentation). Signs and symptoms of this condition commonly begin in the teens or early adulthood.
  • 976
  • 24 Dec 2020
Topic Review
Fibronectin Glomerulopathy
Fibronectin glomerulopathy is a kidney disease that usually develops between early and mid-adulthood but can occur at any age. It eventually leads to irreversible kidney failure (end-stage renal disease).
  • 976
  • 25 Dec 2020
Topic Review
VHL Gene
Von Hippel-Lindau tumor suppressor.
  • 975
  • 23 Dec 2020
Topic Review
Kidney Stones
Kidney stones (also called renal stones or urinary stones) are small, hard deposits that form in one or both kidneys; the stones are made up of minerals or other compounds found in urine. Kidney stones vary in size, shape, and color.
  • 975
  • 23 Dec 2020
Topic Review
DMPK Gene
DM1 Protein Kinase: The DMPK gene provides instructions for making a protein called myotonic dystrophy protein kinase. 
  • 975
  • 24 Dec 2020
Topic Review
Primary Hyperoxaluria
Primary hyperoxaluria is a rare condition characterized by recurrent kidney and bladder stones. The condition often results in end stage renal disease (ESRD), which is a life-threatening condition that prevents the kidneys from filtering fluids and waste products from the body effectively.
  • 975
  • 24 Dec 2020
Topic Review
FREM2 Gene
FRAS1 related extracellular matrix protein 2
  • 975
  • 25 Dec 2020
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