Human Phenotype Ontology 
Grandparent Node:
expandAbnormal natural killer cell count (HP:0040089)help
Parent Node:
expandAbnormal natural killer subset distribution (HP:0500033)help
..Starting node
..expandAbsent natural killer cells (HP:0040219)help
Term ID: 40219
Name: Absent natural killer cells
Synonym: Absent NK cells
Definition: Lack of natural killer cells, a type of lymphocyte in the innate immune system that contains cytoplasmic granzymes, i.e., small granules with perforin and proteases that allow natural killer cells to form pores in the cell membrane of the target cell through which the granzymes and associated molecules can enter, inducing apoptosis.
Comments:
Reference: HP:0040219
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal distribution of CD56 bright/dim natural killer cells (HP:0031410) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0040219HP:0040219Absent natural killer cells0GINS1 CL E G H983728980OMIM:617827Immunodeficiency 55
HP:0040219HP:0040219Absent natural killer cells0JAK3 CL E G H37186193OMIM:600802Scid, autosomal recessive, T-Negative/b-Positive type140
HP:0040219HP:0040219Absent natural killer cells0JAK3 CL E G H37186193ORPHA:35078T-B+ severe combined immunodeficiency due to JAK3 deficiencyHP:0040282 - Frequent140


Genes (2) :GINS1 JAK3

Diseases (3) :OMIM:617827 OMIM:600802 ORPHA:35078
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.