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 lymphocyte morphology (HP:0004332)

Grandparent Node:
Leukocytosis (HP:0001974)

Parent Node:
Abnormal T cell count (HP:0011839)

Parent Node:
Lymphocytosis (HP:0100827)

..Starting node
..Increased T cell count (HP:0100828)

Term ID:

100828

Name:

Increased T cell count

Synonym:

Increase in T cell count; Increase in T cell number

Definition:

An abnormal increase in the total number of T cells detected in the blood.

Comments:

Reference:

HP:0100828

Genes and Diseases:

Child Nodes:

Sister Nodes:

Increased B cell count (HP:0005404)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100828	HP:0100828	Increased T cell count	0	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040282 - Frequent	1
HP:0100828	HP:0100828	Increased T cell count	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040282 - Frequent	2

Genes (2) :BTNL2 HLA-DRB1

Diseases (1) :ORPHA:797

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