Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of T cell physiology (HP:0011840)help
Parent Node:
expandAbnormal T cell activation (HP:0410035)help
..Starting node
..expandAbnormal CD69 upregulation upon TCR activation (HP:0031267)help
Term ID: 31267
Name: Abnormal CD69 upregulation upon TCR activation
Synonym:
Definition: Any abnormality in the upregulation of CD69 on T cells after activation via the T cell receptor (TCR). Upregulation of CD69 is one of the earliest and most sensitive measures of antigen recognition in the periphery, and transient expression of CD69 is associated with positive selection in the thymus.
Comments:
Reference: HP:0031267
Genes and Diseases:
 
       Child Nodes:
........expandDecreased CD69 upregulation upon TCR activation (HP:0031268) help

 Sister Nodes: 
..expandAbnormal CD25 upregulation upon TCR activation (HP:0031269) help
..expandDecreased T cell activation (HP:0005419) 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:0031267HP:0031267Abnormal CD69 upregulation upon TCR activation0MAGT1 CL E G H8406128880OMIM:300853IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN17
HP:0031267HP:0031268Decreased CD69 upregulation upon TCR activation1MAGT1 CL E G H8406128880OMIM:300853IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN17


Genes (1) :MAGT1

Diseases (1) :OMIM:300853
 

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