OBO ID: DOID:6620
Term Name: X-linked hyper IgM syndrome Search Ontology:
Synonyms:
  • hyperimmunoglobulin M 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 (300386) on chromosome Xq26. https://ghr.nlm.nih.gov/condition/x-linked-hyper-igm-syndrome
References:
  • GARD:73
  • MESH:D053306
  • NCI:C3990
  • SNOMEDCT_US_2021_09_01:82286005
  • UMLS_CUI:C0272236
Ontology: Human Disease   (DOID:6620)
OTHER X-linked hyper IgM syndrome PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None