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General Information
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| Term |
histiocytosis-lymphadenopathy plus syndrome |
ID (Ontology) |
DOID:0111278 (Human Disease) |
| 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. |
| Also Known As |
"cutaneous hyperpigmentation with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss" ; "Faisalabad histiocytosis" ; "familial Rosai-Dorfman disease" (for all, see Synonyms field below) |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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| Data Class | Field | Records |
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| Human Disease Models (FBhh) | DOID | 1 |
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes | Human Disease Models |
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histiocytosis-lymphadenopathy plus syndrome | 2 | 1 | for disease ribbon | histiocytosis-lymphadenopathy plus syndrome | 2 | -- | model of | histiocytosis-lymphadenopathy plus syndrome | 2 | -- |
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Relationships