skip to main content
LOTERRE

LOTERRE

Human Diseases (thesaurus)

Choisissez le vocabulaire dans lequel chercher

Langue des données

| español English
Aide à la recherche

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(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)

Concept(s) générique(s)

Traductions

URI

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

Télécharger ce concept:

RDF/XML TURTLE JSON-LD Dernière modif. 14/05/2020