OBO ID: DOID:0112005
Term Name: immunodeficiency 70 Search Ontology:
Synonyms:
  • IMD70
Definition: A combined T cell and B cell immunodeficiency characterized by decreased CD4+ T cells, decreased CD19+ B cells, recurrent bacterial infections, and severe cutaneous warts on the hands, feet, and face that has_material_basis_in heterozygous mutation in the IVNS1ABP gene on chromosome 1q25.3. https://pubmed.ncbi.nlm.nih.gov/32499645/
References:
Ontology: Human Disease   ( DOID:0112005 )
OTHER immunodeficiency 70 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
IVNS1ABP Immunodeficiency 70 618969
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None