Summary

MedlinePlus is an online health information resource. It is a service of the National Library of Medicine (NLM), the world's largest medical library, which is part of the National Institutes of Health (NIH). To promote the transmission of knowledge, this entry collection contains information about the effects of genetic variation on human health transferred from MedlinePlus.

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Rothmund-Thomson Syndrome
Rothmund-Thomson syndrome is a rare condition that affects many parts of the body, especially the skin.
  • 302
  • 24 Dec 2020
Topic Review
X-linked Chondrodysplasia Punctata 2
X-linked chondrodysplasia punctata 2 is a disorder characterized by bone, skin, and eye abnormalities. It occurs almost exclusively in females.  
  • 550
  • 24 Dec 2020
Topic Review
CLRN1 Gene
clarin 1
  • 387
  • 24 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.
  • 386
  • 24 Dec 2020
Topic Review
Romano-Ward Syndrome
Romano-Ward syndrome is a condition that causes a disruption of the heart's normal rhythm (arrhythmia).
  • 557
  • 27 Jan 2022
Topic Review
Cytogenetically Normal Acute Myeloid Leukemia
Cytogenetically normal acute myeloid leukemia (CN-AML) is one form of a cancer of the blood-forming tissue (bone marrow) called acute myeloid leukemia. In normal bone marrow, early blood cells called hematopoietic stem cells develop into several types of blood cells: white blood cells (leukocytes) that protect the body from infection, red blood cells (erythrocytes) that carry oxygen, and platelets (thrombocytes) that are involved in blood clotting. In acute myeloid leukemia, the bone marrow makes large numbers of abnormal, immature white blood cells called myeloid blasts. Instead of developing into normal white blood cells, the myeloid blasts develop into cancerous leukemia cells. The large number of abnormal cells in the bone marrow interferes with the production of functional white blood cells, red blood cells, and platelets.
  • 571
  • 24 Dec 2020
Topic Review
Cardiofaciocutaneous Syndrome
Cardiofaciocutaneous syndrome is a disorder that affects many parts of the body, particularly the heart (cardio-), facial features (facio-), and the skin and hair (cutaneous). People with this condition also have delayed development and intellectual disability, usually ranging from moderate to severe.
  • 377
  • 24 Dec 2020
Topic Review
X-linked Chondrodysplasia Punctata 1
X-linked chondrodysplasia punctata 1 is a disorder of cartilage and bone development that occurs almost exclusively in males. Chondrodysplasia punctata is an abnormality that appears on x-rays as spots (stippling) near the ends of bones and in cartilage.
  • 652
  • 24 Dec 2020
Topic Review
CLN8 Gene
CLN8, transmembrane ER and ERGIC protein
  • 351
  • 24 Dec 2020
Topic Review
Carbonic Anhydrase VA Deficiency
Carbonic anhydrase VA deficiency is an inherited disorder characterized by episodes during which the balance of certain substances in the body is disrupted (known as metabolic crisis) and brain function is abnormal (known as acute encephalopathy). These potentially life-threatening episodes can cause poor feeding, vomiting, weight loss, tiredness (lethargy), rapid breathing (tachypnea), seizures, or coma.
  • 619
  • 24 Dec 2020
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