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Results 1 - 10 of 37 for Fd
  1. Familial dysautonomia 
    ... not show signs and symptoms of the condition. FD HSAN type III HSAN3 HSN-III Riley-Day ...
    https://medlineplus.gov/genetics/condition/familial-dysautonomia - Genetics
  2. Hereditary hemochromatosis 
    Hereditary hemochromatosis is a disorder that causes the body to absorb too much iron from the diet. The excess iron is stored in the body's tissues and organs, ...
    https://medlineplus.gov/.../condition/hereditary-hemochromatosis - Genetics
  3. BEST1 gene 
    ... AG, Moore AT, Keefe RO, Black GC, Manson FD. ADVIRC is caused by distinct mutations in BEST1 ... GA, Kestelyn P, Holder GE, Webster AR, Manson FD, Black GC. Biallelic mutation of BEST1 causes a ...
    https://medlineplus.gov/genetics/gene/best1 - Genetics
  4. DHCR7 gene 
    ... ClinVar Bianconi SE, Cross JL, Wassif CA, Porter FD. Pathogenesis, Epidemiology, Diagnosis and Clinical Aspects of Smith- ... article on PubMed Central Correa-Cerro LS, Porter FD. 3beta-hydroxysterol Delta7-reductase and the Smith-Lemli- ...
    https://medlineplus.gov/genetics/gene/dhcr7 - Genetics
  5. Cri-du-chat syndrome 
    ... A, Tamiazzo S, Provera S, Pierluigi M, Bricarelli FD. The natural history of Cri du Chat Syndrome. ... S, Zara F, Overhauser J, Pierluigi M, Bricarelli FD. Clinical and molecular characterisation of 80 patients with ...
    https://medlineplus.gov/genetics/condition/cri-du-chat-syndrome - Genetics
  6. Autosomal dominant vitreoretinochoroidopathy 
    ... AG, Moore AT, Keefe RO, Black GC, Manson FD. ADVIRC is caused by distinct mutations in BEST1 ... JJ, Puech B, Kestelyn P, Moore AT, Manson FD, Black GC. Mutations of VMD2 splicing regulators cause ...
    https://medlineplus.gov/...osomal-dominant-vitreoretinochoroidopathy - Genetics
  7. Smith-Lemli-Opitz syndrome 
    ... PubMed Bianconi SE, Cross JL, Wassif CA, Porter FD. Pathogenesis, Epidemiology, Diagnosis and Clinical Aspects of Smith- ... nih.gov/books/NBK1143/ Citation on PubMed Porter FD. RSH/Smith-Lemli-Opitz syndrome: a multiple congenital ...
    https://medlineplus.gov/.../condition/smith-lemli-opitz-syndrome - Genetics
  8. Cytochrome P450 oxidoreductase deficiency 
    ... 10.1126/scisignal.2003318. Citation on PubMed Porter FD, Herman GE. Malformation syndromes caused by disorders of ...
    https://medlineplus.gov/...cytochrome-p450-oxidoreductase-deficiency - Genetics
  9. Congenital hemidysplasia with ichthyosiform erythroderma and limb defects 
    ... 1067/mjd.2002.113680. Citation on PubMed Porter FD. Human malformation syndromes due to inborn errors of ...
    https://medlineplus.gov/...hthyosiform-erythroderma-and-limb-defects - Genetics
  10. Hereditary sensory and autonomic neuropathy type V 
    ... Feb 19. Citation on PubMed Kaplan DR, Miller FD. Neurotrophin signal transduction in the nervous system. Curr ...
    https://medlineplus.gov/...y-sensory-and-autonomic-neuropathy-type-v - Genetics
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