Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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:
Abnormality of T cell physiology (HP:0011840)

Parent Node:
Abnormal T cell proliferation (HP:0031379)

Parent Node:
Impaired T cell function (HP:0005435)

..Starting node
..Defective T cell proliferation (HP:0030253)

Term ID:

30253

Name:

Defective T cell proliferation

Synonym:

Definition:

A reduced ability of a T cell population to expand by cell division following T cell activation.

Comments:

Reference:

HP:0030253

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:0030253	HP:0030253	Defective T cell proliferation	0	CD3E CL E G H	916	1674	OMIM:615615	Immunodeficiency 18	HP:0040283 - Occasional	24
HP:0030253	HP:0030253	Defective T cell proliferation	0	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0030253	HP:0030253	Defective T cell proliferation	0	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96		9
HP:0030253	HP:0030253	Defective T cell proliferation	0	MRTFA CL E G H	57591	14334	OMIM:618847	IMMUNODEFICIENCY 66; IMD66
HP:0030253	HP:0030253	Defective T cell proliferation	0	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0030253	HP:0030253	Defective T cell proliferation	0	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE		13
HP:0030253	HP:0030253	Defective T cell proliferation	0	WIPF1 CL E G H	7456	12736	OMIM:614493	WISKOTT-ALDRICH SYNDROME 2; WAS2		6

Genes (7) :CD3E CTPS1 LIG1 MRTFA RASGRP1 TGFB1 WIPF1

Diseases (7) :OMIM:615615 OMIM:615897 OMIM:619774 OMIM:618847 OMIM:618534 OMIM:618213 OMIM:614493

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

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