|  Help  |  About  |  Contact Us

DO Term : immunodeficiency 64 [DOID:0111980] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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 the RASGRP1 gene on chromosome 15q14.
  • synonyms:
  • IMD64,
  • 618534,
  • OMIM:618534
Quick Links:
 
Quick Links:
 

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents