| Metadata | |
|---|---|
| ID | DOID:6620 |
| Name | X-linked hyper IgM syndrome |
| Definition | 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. https://ghr.nlm.nih.gov/condition/x-linked-hyper-igm-syndrome |
| Xrefs |
SNOMEDCT_US_2023_03_01:403835002 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
HIGM1 [EXACT] hyper-IgM immunodeficiency syndrome type 1 [EXACT] hyper-IgM syndrome 1 [EXACT] hyper-IgM syndrome type 1 [EXACT] immunodeficiency with hyper-IgM type 1 [EXACT] X-linked hyper-IgM immunodeficiency [EXACT] XHIM [EXACT] |
| Parent Relationships |
is_a hyper IgM syndrome |