Histiocytosis-Lymphadenopathy Plus Syndrome
Disease ID: disease_node_20252
Connections displayed (default: 10).
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| Dbxref | GARD:7588, ICDO:9749/3, MIM:602782, NCI:C36075 |
|---|---|
| Subclassof | DOID_225, DOID_0050737 |
| Data Source | DOID |
| 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 |
| Doid Label | histiocytosis-lymphadenopathy plus syndrome |
| Doid Description | 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. |
| Has Symptom | SYMP_0000047 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20252 |
| Doid Id | DOID_0111278 |
| Label | Histiocytosis-Lymphadenopathy Plus Syndrome |
- Outgoing r'ship
HAS_SYMPTOMto/from Hepatosplenomegaly(ID:disease_node_20956) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease)