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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Topic Review
ZFYVE26 Gene
Zinc finger FYVE-type containing 26: the ZFYVE26 gene provides instructions for making a protein called spastizin.
  • 390
  • 24 Dec 2020
Topic Review
Oculofaciocardiodental Syndrome
Oculofaciocardiodental (OFCD) syndrome is a condition that affects the development of the eyes (oculo-), facial features (facio-), heart (cardio-) and teeth (dental). This condition occurs only in females.
  • 571
  • 24 Dec 2020
Topic Review
Adenosine Deaminase 2 Deficiency
Adenosine deaminase 2 (ADA2) deficiency is a disorder characterized by abnormal inflammation of various tissues. Signs and symptoms can begin anytime from early childhood to adulthood. The severity of the disorder also varies, even among affected individuals in the same family.
  • 359
  • 24 Dec 2020
Topic Review
ALS2 Gene
ALS2, alsin Rho guanine nucleotide exchange factor. The ALS2 gene provides instructions for making a protein called alsin.
  • 403
  • 24 Dec 2020
Topic Review
ZFP57 Gene
ZFP57 zinc finger protein
  • 516
  • 24 Dec 2020
Topic Review
Oculodentodigital Dysplasia
Oculodentodigital dysplasia is a condition that affects many parts of the body, particularly the eyes (oculo-), teeth (dento-), and fingers (digital).
  • 301
  • 24 Dec 2020
Topic Review
Adenine Phosphoribosyltransferase Deficiency
Adenine phosphoribosyltransferase (APRT) deficiency is an inherited condition that affects the kidneys and urinary tract. The most common feature of this condition is recurrent kidney stones; urinary tract stones are also a frequent symptom. Kidney and urinary tract stones can create blockages in the urinary tract, causing pain during urination and difficulty releasing urine.
  • 386
  • 24 Dec 2020
Topic Review
ZEB2 Gene
Zinc finger E-box binding homeobox 2
  • 394
  • 24 Dec 2020
Topic Review
Adams-Oliver Syndrome
Adams-Oliver syndrome is a rare condition that is present at birth. The primary features are an abnormality in skin development (called aplasia cutis congenita) and malformations of the limbs. A variety of other features can occur in people with Adams-Oliver syndrome.
  • 903
  • 04 Feb 2021
Topic Review
Oculocutaneous Albinism
Oculocutaneous albinism is a group of conditions that affect coloring (pigmentation) of the skin, hair, and eyes.
  • 570
  • 24 Dec 2020
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