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 subset distribution (HP:0025540)

Parent Node:
Abnormal proportion of naive T cells (HP:0031396)

..Starting node
..Decreased proportion of naive T cells (HP:0031397)

Term ID:

31397

Name:

Decreased proportion of naive T cells

Synonym:

Decreased proportion of naive thymus-derived, alpha-beta T cells; Reduced proportion of naive T cells

Definition:

An abnormally decreased proportion of naive T cells relative to the total number of T cells.

Comments:

Reference:

HP:0031397

Genes and Diseases:

Child Nodes:

Sister Nodes:

Increased proportion of naive T cells (HP:0031398)

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:0031397	HP:0031397	Decreased proportion of naive T cells	0	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency	HP:0040281 - Very frequent	48
HP:0031397	HP:0031397	Decreased proportion of naive T cells	0	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0031397	HP:0031397	Decreased proportion of naive T cells	0	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0031397	HP:0031397	Decreased proportion of naive T cells	0	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia		74
HP:0031397	HP:0031397	Decreased proportion of naive T cells	0	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0031397	HP:0410377	Decreased proportion of naive CD8 T cells	1	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0031397	HP:0410377	Decreased proportion of naive CD8 T cells	1	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0031397	HP:0410377	Decreased proportion of naive CD8 T cells	1	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040282 - Frequent	74

Genes (5) :IL2RG PIK3R1 SASH3 SMARCAL1 SYK

Diseases (5) :ORPHA:276 OMIM:616005 OMIM:301082 ORPHA:1830 OMIM:619381

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