OBO ID: DOID:0111980
Term Name: immunodeficiency 64 Search Ontology:
Synonyms:
  • IMD64
Definition: A T cell, B cell, and NK cell deficiency characterized by variably decreased numbers of T cells, lesser deficiencies of B and NK cells, decreased phosphorylation of the extracellular-signal-regulated serine kinase ERK in T and B cells, and onset in early childhood of recurrent bacterial, viral, and fungal infections that has_material_basis_in homozygous or compound heterozygous mutation in RASGRP1 on chromosome 15q14. (3)
References:
Ontology: Human Disease   (DOID:0111980)
OTHER immunodeficiency 64 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
RASGRP1 Immunodeficiency 64 618534
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None