Hyper-Igm Immunodeficiency Syndrome, Type 1
Disease ID: disease_node_11682
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| Dbxref | GARD:73, MESH:D053307, MIM:308230, NCI:C158531, ORDO:101088, SNOMEDCT_US_2023_03_01:403835002, UMLS_CUI:C0398689 |
|---|---|
| Subclassof | DOID_0080012, DOID_0080544 |
| Data Source | DOID, MESH |
| Synonyms | HIGM1, X-linked hyper-IgM immunodeficiency, XHIM, hyper-IgM immunodeficiency syndrome type 1, hyper-IgM syndrome 1, hyper-IgM syndrome type 1, immunodeficiency with hyper-IgM type 1 |
| Mesh Id | D053307 |
| Mesh Label | Hyper-IgM Immunodeficiency Syndrome, Type 1 |
| Mesh Subclassof | D040181, D053306 |
| Doid Label | X-linked hyper IgM syndrome |
| Doid Description | A hyper IgM syndrome that is characterized by neutropenia and a high rate of gastrointestinal and central nervous system infections and that has_material_basis_in a mutation in the CD40LG gene on chromosome Xq26.3. |
| Has Material Basis In | GENO_0000149 |
| Disease Node Id | disease_node_11682 |
| Doid Id | DOID_6620 |
| Label | Hyper-Igm Immunodeficiency Syndrome, Type 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Hyper-Igm Immunodeficiency Syndrome(ID:disease_node_11677) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from X-Linked Recessive Disease(ID:disease_node_13254) (Disease)