WormBase Tree Display for DO_term: DOID:0111278
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| DOID:0111278 | Name | histiocytosis-lymphadenopathy plus syndrome | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| 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. | ||||
| Synonym | Exact (12) | ||||
| Parent | Is_a | DOID:225 | |||
| DOID:0050737 | |||||
| DB_info | Database | OMIM | disease | 602782 | |
| Attribute_of | Gene_by_orthology | WBGene00001320 | |||
| WBGene00008123 | |||||
| WBGene00009686 | |||||
| WBGene00010510 | |||||
| WBGene00010701 | |||||
| WBGene00017532 |
