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Topic Review
Sjögren-Larsson Syndrome
Sjögren-Larsson syndrome is a condition characterized by dry, scaly skin (ichthyosis); neurological problems; and eye problems.
  • 763
  • 25 Dec 2020
Topic Review
TNNI2 Gene
Troponin I2, fast skeletal type: The TNNI2 gene provides instructions for making one form of a protein called troponin I.
  • 763
  • 25 Dec 2020
Topic Review
Joubert Syndrome
Joubert syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.
  • 762
  • 23 Dec 2020
Topic Review
Mosaic Variegated Aneuploidy Syndrome
Mosaic variegated aneuploidy (MVA) syndrome is a rare disorder in which some cells in the body have an abnormal number of chromosomes instead of the usual 46 chromosomes, a situation known as aneuploidy. Most commonly, cells have an extra chromosome, which is called trisomy, or are missing a chromosome, which is known as monosomy. In MVA syndrome, some cells are aneuploid and others have the normal number of chromosomes, which is a phenomenon known as mosaicism. Typically, at least one-quarter of cells in affected individuals have an abnormal number of chromosomes. Because the additional or missing chromosomes vary among the abnormal cells, the aneuploidy is described as variegated.
  • 762
  • 23 Dec 2020
Topic Review
Juvenile Polyposis Syndrome
Juvenile polyposis syndrome is a disorder characterized by multiple noncancerous (benign) growths called juvenile polyps.
  • 762
  • 23 Dec 2020
Topic Review
Metachromatic Leukodystrophy
Metachromatic leukodystrophy is an inherited disorder characterized by the accumulation of fats called sulfatides in cells.
  • 761
  • 23 Dec 2020
Topic Review
Cerebro-facio-thoracic Dysplasia
Cerebro-facio-thoracic dysplasia is a rare condition characterized by abnormal development (dysplasia) of the brain (cerebro) and structures in the face (facio) and torso (thoracic).
  • 761
  • 24 Dec 2020
Topic Review
Lamellar Ichthyosis
Lamellar ichthyosis is a condition that mainly affects the skin.
  • 760
  • 23 Dec 2020
Topic Review
Congenital Central Hypoventilation Syndrome
Congenital central hypoventilation syndrome (CCHS) is a disorder that affects normal breathing.
  • 760
  • 24 Dec 2020
Topic Review
Renal Tubular Acidosis with Deafness
Renal tubular acidosis with deafness is a disorder characterized by kidney (renal) problems and hearing loss.
  • 760
  • 24 Dec 2020
Topic Review
Congenital Myasthenic Syndrome
Congenital myasthenic syndrome is a group of conditions characterized by muscle weakness (myasthenia) that worsens with physical exertion.
  • 760
  • 24 Dec 2020
Topic Review
Bunion
A bunion, known technically as hallux valgus, is a bony bump on the side of the foot at the base of the big toe. Bunions develop slowly as pressure on the joint at the base of the big toe causes the toe to move out of place, leaning inward toward the second toe. Because this joint carries a lot of weight during activities like standing and walking, bunions can cause foot pain, stiffness, redness, and swelling. Calluses may form where the big toe and second toe rub together or on the ball of the foot. Unless they are treated, bunions get worse over time, and it may become difficult to wear regular shoes or walk without pain. Bunions can occur in one or both feet.
  • 760
  • 24 Dec 2020
Topic Review
SDHB Gene
succinate dehydrogenase complex iron sulfur subunit B
  • 760
  • 24 Dec 2020
Topic Review
SMN1 Gene
survival of motor neuron 1, telomeric
  • 760
  • 24 Dec 2020
Topic Review
Novel Splicing Variant in Acylglycerol Kinase
Mitochondrial functional integrity depends on protein and lipid homeostasis in the mitochondrial membranes and disturbances in their accumulation can cause disease. AGK, a mitochondrial acylglycerol kinase, is not only involved in lipid signaling but is also a component of the TIM22 complex in the inner mitochondrial membrane, which mediates the import of a subset of membrane proteins.
  • 760
  • 13 Jan 2022
Topic Review
MYH3 Gene
myosin heavy chain 3
  • 759
  • 23 Dec 2020
Topic Review
Mitochondrial Neurogastrointestinal Encephalopathy Disease
Mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease is a condition that affects several parts of the body, particularly the digestive system and nervous system. The major features of MNGIE disease can appear anytime from infancy to adulthood, but signs and symptoms most often begin by age 20. The medical problems associated with this disorder worsen with time.
  • 759
  • 23 Dec 2020
Topic Review
Hystrix-Like Ichthyosis with Deafness
Hystrix-like ichthyosis with deafness (HID) is a disorder characterized by dry, scaly skin (ichthyosis) and hearing loss that is usually profound. Hystrix-like means resembling a porcupine; in this type of ichthyosis, the scales may be thick and spiky, giving the appearance of porcupine quills.
  • 759
  • 23 Dec 2020
Topic Review
Acrocallosal Syndrome
Acrocallosal syndrome is a rare condition characterized by a brain abnormality called agenesis of the corpus callosum, the presence of extra fingers and toes (polydactyly), and distinctive facial features. The signs and symptoms of this disorder are present at birth, and their severity varies widely among affected individuals.
  • 759
  • 23 Dec 2020
Topic Review
Desmoid Tumor
A desmoid tumor is an abnormal growth that arises from connective tissue, which is the tissue that provides strength and flexibility to structures such as bones, ligaments, and muscles. Typically, a single tumor develops, although some people have multiple tumors. The tumors can occur anywhere in the body. Tumors that form in the abdominal wall are called abdominal desmoid tumors; those that arise from the tissue that connects the abdominal organs are called intra-abdominal desmoid tumors; and tumors found in other regions of the body are called extra-abdominal desmoid tumors. Extra-abdominal tumors occur most often in the shoulders, upper arms, and upper legs.
  • 759
  • 24 Dec 2020
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