Search Ontology:
Human Disease

X-linked hyper IgM syndrome

Term ID
DOID:6620
Synonyms
  • HIGM1
  • hyper-IgM immunodeficiency syndrome type 1
  • hyper-IgM syndrome 1
  • hyper-IgM syndrome type 1
  • hyperimmunoglobulin M syndrome
  • immunodeficiency with hyper-IgM type 1
  • X-linked hyper-IgM immunodeficiency
  • XHIM
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
References
Ontology
Human Disease   ( DOID:6620 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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