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Browse result for Histiocytosis-lymphadenopathy plus syndrome

※ introduction

    A syndrome characterized by histiocytosis, hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, and reduced height that has_material_basis_in homozygous or compound heterozygous mutation in SLC29A3 on 10q22.1. This syndrome comprises features from 4 histiocytic disorders that were previously considered distinct: Faisalabad histiocytosis, sinus histiocytosis with massive lymphadenopathy, H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome.

Reference
DiseaseOntology: Histiocytosis-lymphadenopathy plus syndrome



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD12398Q9BZD255315
SLC29A3
Equilibrative nucleoside transporter 3
Homo sapiens