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Human Diseases (thesaurus)

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disease > genetic disease > hereditary disease > H syndrome

disease > skin appendages disease > skin disease > H syndrome

... > skin appendages disease > skin disease > pigmentation disorder > hypermelanosis > H syndrome

disease > complex syndrome > H syndrome

Preferred term

H syndrome

Definition(s)

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)

Broader concept(s)

In other languages

syndrome H

French

URI

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

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