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Topic Review
COL4A3 Gene
collagen type IV alpha 3 chain
  • 725
  • 24 Dec 2020
Topic Review
GLRA1 Gene
Glycine receptor alpha 1
  • 724
  • 23 Dec 2020
Topic Review
DOCK8 Immunodeficiency Syndrome
DOCK8 immunodeficiency syndrome is a disorder of the immune system. The condition is characterized by recurrent infections that are severe and can be life-threatening. The infections can be caused by bacteria, viruses, or fungi. Skin infections cause rashes, blisters, accumulations of pus (abscesses), open sores, and scaling. People with DOCK8 immunodeficiency syndrome also tend to have frequent bouts of pneumonia and other respiratory tract infections. Other immune system-related problems in people with DOCK8 immunodeficiency syndrome include an inflammatory skin disorder called eczema, food or environmental allergies, and asthma.
  • 724
  • 24 Dec 2020
Topic Review
CRLF1 Gene
cytokine receptor like factor 1
  • 724
  • 24 Dec 2020
Topic Review
HLA-DQB1 Gene
Major histocompatibility complex, class II, DQ beta 1
  • 723
  • 22 Dec 2020
Topic Review
USH2A Gene
Usherin.
  • 723
  • 23 Dec 2020
Topic Review
BOLA3 Gene
bolA family member 3
  • 723
  • 24 Dec 2020
Topic Review
DVL1 Gene
Dishevelled Segment Polarity Protein 1
  • 723
  • 24 Dec 2020
Topic Review
Hermansky-Pudlak Syndrome
Hermansky-Pudlak syndrome is a disorder characterized by a condition called oculocutaneous albinism, which causes abnormally light coloring (pigmentation) of the skin, hair, and eyes.
  • 722
  • 23 Dec 2020
Topic Review
Dentatorubral-pallidoluysian Atrophy
Dentatorubral-pallidoluysian atrophy, commonly known as DRPLA, is a progressive brain disorder that causes involuntary movements, mental and emotional problems, and a decline in thinking ability. The average age of onset of DRPLA is 30 years, but this condition can appear anytime from infancy to mid-adulthood.
  • 722
  • 24 Dec 2020
Topic Review
EYA1 Gene
EYA transcriptional coactivator and phosphatase 1
  • 722
  • 24 Dec 2020
Topic Review
Hereditary Hypophosphatemic Rickets
Hereditary hypophosphatemic rickets is a disorder related to low levels of phosphate in the blood (hypophosphatemia). Phosphate is a mineral that is essential for the normal formation of bones and teeth.
  • 721
  • 23 Dec 2020
Topic Review
LZTR1 Gene
Leucine zipper like transcription regulator 1
  • 721
  • 23 Dec 2020
Topic Review
MAGT1 Gene
Magnesium transporter 1
  • 721
  • 23 Dec 2020
Topic Review
Behçet Disease
Behçet disease is an inflammatory condition that affects many parts of the body. The health problems associated with Behçet disease result from widespread inflammation of blood vessels (vasculitis). This inflammation most commonly affects small blood vessels in the mouth, genitals, skin, and eyes.
  • 721
  • 24 Dec 2020
Topic Review
TIMM8A Gene
Translocase of inner mitochondrial membrane 8A: The TIMM8A gene provides instructions for making a protein that is found inside mitochondria, which are structures within cells that convert the energy from food into a form that cells can use.
  • 721
  • 25 Dec 2020
Topic Review
Alternating Hemiplegia of Childhood
Alternating hemiplegia of childhood is a neurological condition characterized by recurrent episodes of temporary paralysis, often affecting one side of the body (hemiplegia). During some episodes, the paralysis alternates from one side of the body to the other or affects both sides at the same time. These episodes begin in infancy or early childhood, usually before 18 months of age, and the paralysis lasts from minutes to days.
  • 720
  • 24 Dec 2020
Topic Review
Cranioectodermal Dysplasia
Cranioectodermal dysplasia is a disorder that affects many parts of the body. The most common features involve bone abnormalities and abnormal development of certain tissues known as ectodermal tissues, which include the skin, hair, nails, and teeth. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.
  • 720
  • 24 Dec 2020
Topic Review
TUBA1A Gene
Tubulin alpha 1a.
  • 719
  • 23 Dec 2020
Topic Review
Isolated Growth Hormone Deficiency
Isolated growth hormone deficiency is a condition caused by a severe shortage or absence of growth hormone.
  • 719
  • 23 Dec 2020
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