OBO ID: DOID:0111278 |
Term Name: | histiocytosis-lymphadenopathy plus syndrome | Search Ontology: | |
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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. https://www.ncbi.nlm.nih.gov/pubmed/20140240 | ||
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Ontology: | Human Disease ( DOID:0111278 ) |
OTHER histiocytosis-lymphadenopathy plus syndrome PAGES
ZEBRAFISH MODELS
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PHENOTYPE
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