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Concept information

disease > genetic disease > hereditary disease > H syndrome
disease > skin appendages disease > skin disease > H syndrome
... > disease > skin appendages disease > skin disease > pigmentation disorder > hypermelanosis > H syndrome
disease > complex syndrome > H syndrome

Terme préférentiel

H syndrome  

Définition

  • H syndrome, also known as Histiocytosis-lymphadenopathy plus syndrome or PHID, is a rare genetic condition caused by mutations in the SLC29A3 gene which encode the human equilibrative nucleoside transporter (hENT3) protein.It is also known as Faisalabad histocytosis, familial Rosai-Dorfman disease, sinus histocytosis with massive lymphadenopathy and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome. (Wikipedia)

Concept générique

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URI

http://data.loterre.fr/ark:/67375/VH8-HPQHHQFN-C

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