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

..Starting node
..Abnormal proportion of naive CD4 T cells (HP:0410373)

Term ID:

410373

Name:

Abnormal proportion of naive CD4 T cells

Synonym:

Abnormal proportion of CD4+CD45RA+ cells; Abnormal proportion of naive thymus-derived CD4-positive, alpha-beta T cells

Definition:

Any abnormality in the proportion of naive CD4 T cells relative to the total number of T cells.

Comments:

Reference:

HP:0410373

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0410373	HP:0410373	Abnormal proportion of naive CD4 T cells	0	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0410373	HP:0410373	Abnormal proportion of naive CD4 T cells	0	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0410373	HP:0410373	Abnormal proportion of naive CD4 T cells	0	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040282 - Frequent	74
HP:0410373	HP:0410375	Increased proportion of naive CD4 T cells	1	CL E G H
HP:0410373	HP:0410378	Decreased proportion of naive CD4 T cells	1	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0410373	HP:0410378	Decreased proportion of naive CD4 T cells	1	SASH3 CL E G H	54440	15975	OMIM:301082			1

Genes (3) :PIK3R1 SASH3 SMARCAL1

Diseases (3) :OMIM:616005 OMIM:301082 ORPHA:1830

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