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Results 1 - 10 of 2,053 for Lead
  1. Non-alcoholic fatty liver disease 
    ... of excessive fat in the liver that can lead to liver damage resembling the damage caused by ... body. However, severe or long-term damage can lead to the replacement of normal liver tissue with ...
    https://medlineplus.gov/.../non-alcoholic-fatty-liver-disease - Genetics
  2. Laryngo-onycho-cutaneous syndrome 
    ... onycho-cutaneous (LOC) syndrome is a disorder that leads to abnormalities of the voicebox (laryngo-), finger- and ... of laminin 332 to perform its other functions leads to the nail and tooth abnormalities that occur ...
    https://medlineplus.gov/.../laryngo-onycho-cutaneous-syndrome - Genetics
  3. Cushing disease 
    ... elevated levels of a hormone called cortisol, which leads to a wide variety of signs and symptoms. ... mutations in certain genes have been found to lead to Cushing disease. These genetic changes are called ...
    https://medlineplus.gov/genetics/condition/cushing-disease - Genetics
  4. Congenital nephrotic syndrome 
    ... kidney condition that begins in infancy and typically leads to irreversible kidney failure (end-stage renal disease) ... have blood in the urine (hematuria), which can lead to a reduced number of red blood cells ( ...
    https://medlineplus.gov/.../condition/congenital-nephrotic-syndrome - Genetics
  5. Vitamin D-dependent rickets 
    ... rickets is a disorder of bone development that leads to softening and weakening of the bones (rickets). ... regulating calcium levels called parathyroid hormone (PTH), which leads to a condition called secondary hyperparathyroidism. Low levels ...
    https://medlineplus.gov/.../condition/vitamin-d-dependent-rickets - Genetics
  6. Progressive familial intrahepatic cholestasis 
    ... disorder that causes progressive liver disease, which typically leads to liver failure. In people with PFIC, liver ... bound to phospholipids. Mutations in the ABCB4 gene lead to a lack of phospholipids available to bind ...
    https://medlineplus.gov/...ressive-familial-intrahepatic-cholestasis - Genetics
  7. MDA5 deficiency 
    ... a disorder of the immune system (immunodeficiency) that leads to recurrent, severe infections of the lungs and ... instructions for making the MDA5 protein. These mutations lead to production of an altered MDA5 protein that ...
    https://medlineplus.gov/genetics/condition/mda5-deficiency - Genetics
  8. Porphyria 
    ... caused by abnormalities in the chemical steps that lead to heme production. Heme is a vital molecule ... the sun become fragile and blistered, which can lead to infection, scarring, changes in skin coloring (pigmentation), ...
    https://medlineplus.gov/genetics/condition/porphyria -
  9. Osteoglophonic dysplasia 
    ... a condition characterized by abnormal bone growth that leads to severe head and face (craniofacial) abnormalities, dwarfism, ... passages and affect the mouth and teeth can lead to respiratory problems and cause difficulty with eating ...
    https://medlineplus.gov/genetics/condition/osteoglophonic-dysplasia - Genetics
  10. Osteoporosis-pseudoglioma syndrome 
    ... of the bones (osteoporosis) and eye abnormalities that lead to vision loss. In people with this condition, ... prevent cells from making any LRP5 protein or lead to a protein that cannot function. Loss of ...
    https://medlineplus.gov/.../osteoporosis-pseudoglioma-syndrome - Genetics
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