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Results 1 - 10 of 326 for Abnormality of the liver
  1. NPHP1 gene 
    ... involves neurological problems and can include nephronophthisis, eye abnormalities, liver disease, and other abnormalities. As in nephronophthisis type1 ( ...
    https://medlineplus.gov/genetics/gene/nphp1 - Genetics
  2. SLC30A10 gene 
    ... number of red blood cells (polycythemia); and liver abnormalities, including irreversible liver disease (cirrhosis).Mutations in the SLC30A10 gene impair ...
    https://medlineplus.gov/genetics/gene/slc30a10 - Genetics
  3. CPT1A gene 
    ... levels of ammonia in the blood (hyperammonemia), and abnormalities in liver enzymes. A small percentage of women who have ...
    https://medlineplus.gov/genetics/gene/cpt1a - Genetics
  4. Congenital bile acid synthesis defect type 1 
    ... As the condition progresses, affected individuals can develop liver abnormalities including an enlarged liver (hepatomegaly), inflammation, or chronic ...
    https://medlineplus.gov/...genital-bile-acid-synthesis-defect-type-1 - Genetics
  5. Blood in Urine: MedlinePlus Medical Test 
    ... culture Minemura M, Tajiri K, Shimizu Y. Systemic abnormalities in liver diease. World J Gastroenterol [Internet]. 2009 June 28 [ ...
    https://medlineplus.gov/lab-tests/blood-in-urine - Medical Tests
  6. Congenital bile acid synthesis defect type 2 
    ... As the condition progresses, affected individuals can develop liver abnormalities including inflammation or chronic liver disease (cirrhosis). Some individuals with congenital bile acid ...
    https://medlineplus.gov/...genital-bile-acid-synthesis-defect-type-2 - Genetics
  7. Fatty Liver (Merck & Co., Inc.)  
    Fatty Liver Disease/Learn More ... Fatty Liver Disease ... Merck & Co., Inc. ... Fatty Liver - Learn about the causes, symptoms, diagnosis & treatment from the Merck Manuals - ...
    https://www.merckmanuals.com/.../fatty-liver - External Health Links
  8. NGLY1 gene 
    ... affects many body systems, causing delayed development, movement abnormalities, problems with liver function, eye abnormalities, and a reduction or absence ...
    https://medlineplus.gov/genetics/gene/ngly1 - Genetics
  9. Joubert Syndrome From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Joubert syndrome is a rare genetic condition characterized by abnormal brain development that includes the absence or underdevelopment of the cerebellar ...
    https://www.ninds.nih.gov/.../disorders/joubert-syndrome - External Health Links
  10. Hypermanganesemia with dystonia 
    ... from manganese buildup in the liver leads to liver abnormalities in people with HMDPC. Because SLC39A14 gene mutations prevent manganese from entering liver cells, people with hypermanganesemia with dystonia 2 do ...
    https://medlineplus.gov/.../hypermanganesemia-with-dystonia - Genetics
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