Your browser does not fully support modern features. Please upgrade for a smoother experience.
Subject:
All Disciplines Arts & Humanities Biology & Life Sciences Business & Economics Chemistry & Materials Science Computer Science & Mathematics Engineering Environmental & Earth Sciences Medicine & Pharmacology Physical Sciences Public Health & Healthcare Social Sciences
Sort by:
Most Viewed Latest Alphabetical (A-Z) Alphabetical (Z-A)
Filter:
All Topic Review Biography Peer Reviewed Entry Video Entry
Topic Review
Arthrogryposis
Arthrogryposis (arth = joint; grp = curved; osis = pathological state) describes a broad range of phenotypes consisting of multiple congenital joint contractures presenting at birth. About 1 in 3000 live births presents with some form of arthrogryposis, many of which are nonprogressive and improve with physiotherapy. The core root of arthrogryposis is fetal akinesia, or lack of fetal movement, that results in contractures forming in the joints. 
  • 919
  • 21 Jun 2021
Topic Review
GDF3 Gene
Growth differentiation factor 3
  • 919
  • 25 Dec 2020
Topic Review
Trisomy 13
Trisomy 13, also called Patau syndrome, is a chromosomal condition associated with severe intellectual disability and physical abnormalities in many parts of the body.
  • 918
  • 23 Dec 2020
Topic Review
MyD88 Deficiency
MyD88 deficiency is an inherited disorder of the immune system (primary immunodeficiency).
  • 918
  • 23 Dec 2020
Topic Review
Beta-Mannosidosis
Beta-mannosidosis is a rare inherited disorder affecting the way certain sugar molecules are processed in the body.
  • 918
  • 24 Dec 2020
Topic Review
X-linked Lymphoproliferative Disease
X-linked lymphoproliferative disease (XLP) is a disorder of the immune system and blood-forming cells that is found almost exclusively in males.
  • 918
  • 24 Dec 2020
Topic Review
SOX9
SRY-box 9
  • 918
  • 24 Dec 2020
Topic Review
Factor XI Deficiency
Factor XI deficiency is a disorder that can cause abnormal bleeding due to a shortage (deficiency) of the factor XI protein, which is involved in blood clotting.
  • 918
  • 25 Dec 2020
Topic Review
TNNT2 Gene
Troponin T2, cardiac type: The TNNT2 gene provides instructions for making a protein called cardiac troponin T, which is found solely in the heart (cardiac) muscle.
  • 918
  • 25 Dec 2020
Topic Review
Ocular Albinism
Ocular albinism is a genetic condition that primarily affects the eyes. This condition reduces the coloring (pigmentation) of the iris, which is the colored part of the eye, and the retina, which is the light-sensitive tissue at the back of the eye. Pigmentation in the eye is essential for normal vision.
  • 917
  • 24 Dec 2020
Topic Review
NR3C2 Gene
nuclear receptor subfamily 3 group C member 2
  • 917
  • 24 Dec 2020
Topic Review
Prader-Willi Syndrome
Prader-Willi syndrome is a complex genetic condition that affects many parts of the body. In infancy, this condition is characterized by weak muscle tone (hypotonia), feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating (hyperphagia) and obesity. Some people with Prader-Willi syndrome, particularly those with obesity, also develop type 2 diabetes (the most common form of diabetes).
  • 917
  • 24 Dec 2020
Topic Review
Progressive Osseous Heteroplasia
Progressive osseous heteroplasia is a disorder in which bone forms within skin and muscle tissue.
  • 917
  • 24 Dec 2020
Topic Review
Fanconi Anemia
Fanconi anemia is a condition that affects many parts of the body. People with this condition may have bone marrow failure, physical abnormalities, organ defects, and an increased risk of certain cancers.
  • 917
  • 25 Dec 2020
Topic Review
Glucose-6-Phosphate Dehydrogenase Deficiency
Glucose-6-phosphate dehydrogenase deficiency is a genetic disorder that occurs almost exclusively in males.
  • 916
  • 23 Dec 2020
Topic Review
KRT1 Gene
Keratin 1
  • 916
  • 23 Dec 2020
Topic Review
Loeys-Dietz Syndrome
Loeys-Dietz syndrome is a disorder that affects the connective tissue in many parts of the body. Connective tissue provides strength and flexibility to structures such as bones, ligaments, muscles, and blood vessels.
  • 916
  • 24 Dec 2020
Topic Review
Nijmegen Breakage Syndrome
Nijmegen breakage syndrome is a condition characterized by short stature, an unusually small head size (microcephaly), distinctive facial features, recurrent respiratory tract infections, an increased risk of cancer, intellectual disability, and other health problems.
  • 916
  • 24 Dec 2020
Topic Review
Ring Chromosome 14 Syndrome
Ring chromosome 14 syndrome is a condition characterized by seizures and intellectual disability.
  • 916
  • 24 Dec 2020
Topic Review
Tyrosinemia
Tyrosinemia is a genetic disorder characterized by disruptions in the multistep process that breaks down the amino acid tyrosine, a building block of most proteins. If untreated, tyrosine and its byproducts build up in tissues and organs, which can lead to serious health problems.    
  • 915
  • 23 Dec 2020
  • Page
  • of
  • 135
Featured Entry Collections
>>

Featured Reprints

>>
Encyclopedia of Digital Society, Industry 5.0 and Smart City
Encyclopedia of Engineering
Encyclopedia of Social Sciences
Encyclopedia of Medieval Royal Iconography
Academic Video Service
Feedback