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Results 1 - 10 of 563 for H syndrome
  1. Ornithine translocase deficiency 
    ... hyperammonemia-homocitrullinemia syndrome Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Triple H syndrome Genetic Testing Registry: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Hyperornithinemia- ...
    https://medlineplus.gov/.../ornithine-translocase-deficiency - Genetics
  2. Histiocytosis-lymphadenopathy plus syndrome 
    ... of the body. This group of disorders includes H syndrome, pigmented hypertrichosis with insulin-dependent diabetes mellitus (PHID), ... additional signs and symptoms. A characteristic feature of H syndrome is abnormal patches of skin (lesions), typically on ...
    https://medlineplus.gov/...stiocytosis-lymphadenopathy-plus-syndrome - Genetics
  3. Vici syndrome 
    ... Dionisi-Vici C, Smith L, Gautel M, Jungbluth H. Vici syndrome: a review. Orphanet J Rare Dis. 2016 Feb ... G, Chen Y, Feng D, Hu J, Zhang H. The Vici Syndrome Protein EPG5 Is a Rab7 Effector that Determines ...
    https://medlineplus.gov/genetics/condition/vici-syndrome - Genetics
  4. Majeed syndrome 
    ... article on PubMed Central Ferguson PJ, El-Shanti H. Majeed Syndrome: A Review of the Clinical, Genetic and Immunologic ... PubMed Majeed HA, Al-Tarawna M, El-Shanti H, Kamel B, Al-Khalaileh F. The syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic ...
    https://medlineplus.gov/genetics/condition/majeed-syndrome - Genetics
  5. Mucopolysaccharidosis type I 
    ... into three separate syndromes: Hurler syndrome (MPS I-H), Hurler-Scheie syndrome (MPS I-H/S), and Scheie syndrome (MPS I-S), listed from most to least ... deficiency MPS I MPS I H MPS I H-S MPS I S Mucopolysaccharidosis I Scheie syndrome ... Genetic Testing Registry: Mucopolysaccharidosis type 1 Mucopolysaccharidosis type ...
    https://medlineplus.gov/.../condition/mucopolysaccharidosis-type-i - Genetics
  6. Roberts syndrome 
    ... C, Ozono K, Jabs EW, Inui K, Joenje H. Roberts syndrome is caused by mutations in ESCO2, a human ...
    https://medlineplus.gov/genetics/condition/roberts-syndrome - Genetics
  7. Arts syndrome 
    ... Donald JA, Wevers RA, Christodoulou J, van Bokhoven H. Arts syndrome is caused by loss-of-function mutations in ... nih.gov/books/NBK2591/ Citation on PubMed Kremer H, Hamel BC, van ... for a syndrome with X-linked mental retardation, ataxia, weakness, hearing ...
    https://medlineplus.gov/genetics/condition/arts-syndrome - Genetics
  8. Barth syndrome 
    ... Central Ferreira C, Pierre G, Thompson R, Vernon H. Barth Syndrome. 2014 Oct 9 [updated 2020 Jul 9]. In: ... Maisenbacher MK, Versluys B, Newbury-Ecob RA, Ozsahin H, Damin MK, Bowen ... syndrome: characteristics, risks, and management. Curr Opin Hematol. 2019 ...
    https://medlineplus.gov/genetics/condition/barth-syndrome - Genetics
  9. Cold-induced sweating syndrome 
    ... JS, Miles JH, McLeod JG, Knappskog PM, Boman H. Cold-induced sweating syndrome: CISS1 and CISS2: manifestations from infancy to adulthood. ... A, Nilsen PT, Bringsli JS, Ott J, Boman H. Cold-induced sweating syndrome is caused by mutations in the CRLF1 gene. ...
    https://medlineplus.gov/.../condition/cold-induced-sweating-syndrome - Genetics
  10. Hereditary neuralgic amyotrophy 
    ... MC, Neesen J, Grisold W, Chance PF, Rehder H. Dysmorphic syndrome of hereditary neuralgic amyotrophy associated with a SEPT9 ... Hoskote SS, Spinner RJ, Klein CJ. Parsonage-Turner Syndrome and Hereditary Brachial ... Sudo K, Ito H, Iwamoto I, Morishita R, Asano T, Nagata K. ...
    https://medlineplus.gov/.../hereditary-neuralgic-amyotrophy - Genetics
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