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DOID:0111278 - histiocytosis-lymphadenopathy plus syndrome
Disease Ontology Definition: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.
Synonyms: Faisalabad histiocytosis, H syndrome, HJCD, PHID, Rosai–Dorfman disease, SHML, cutaneous hyperpigmentation with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss, familial Rosai-Dorfman disease, histiocytosis and lymphadenopathy with or without cutaneous, cardiac, and/or endocrine features, joint contractures and/or deafness, histiocytosis with joint contractures and sensorineural deafness, pigmented hypertrichosis with insulin-dependent diabetes mellitus, sinus histiocytosis and massive lymphadenopathy,
Xenbase Genes
:
slc29a3
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
syndrome (is_a)