Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal T cell activation (HP:0410035)

Parent Node:
Abnormal CD69 upregulation upon TCR activation (HP:0031267)

..Starting node
..Decreased CD69 upregulation upon TCR activation (HP:0031268)

Term ID:

31268

Name:

Decreased CD69 upregulation upon TCR activation

Synonym:

Definition:

Reduced or impaired upregulation of CD69 on T cells after activation via the T cell receptor (TCR).

Comments:

Reference:

HP:0031268

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031268	HP:0031268	Decreased CD69 upregulation upon TCR activation	0	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN	17

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.