OBO ID: DOID:0111999
Term Name: immunodeficiency 61 Search Ontology:
Synonyms:
  • IMD61
Definition: A B cell deficiency characterized by onset in early childhood of recurrent infections due to an intrinsic defect in the ability of B cells to produce antibodies that has_material_basis_in hemizygous mutation in SH3KBP1 on chromosome Xp22.12. https://pubmed.ncbi.nlm.nih.gov/29636373/
References:
Ontology: Human Disease   (DOID:0111999)
OTHER immunodeficiency 61 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SH3KBP1 ?Immunodeficiency 61 300310
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None