Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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

..Starting node
..Abnormal CD4+CD25+ regulatory T cell proportion (HP:0020111)

Term ID:

20111

Name:

Abnormal CD4+CD25+ regulatory T cell proportion

Synonym:

Abnormal CD4+CD25+ Treg cell proportion

Definition:

A deviation from the normal proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells.

Comments:

Reference:

HP:0020111

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:0020111	HP:0020111	Abnormal CD4+CD25+ regulatory T cell proportion	0	CARD11 CL E G H	84433	16393	OMIM:615206	Card11 immunodeficiency	45
HP:0020111	HP:0020111	Abnormal CD4+CD25+ regulatory T cell proportion	0	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0020111	HP:0020111	Abnormal CD4+CD25+ regulatory T cell proportion	0	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41	65
HP:0020111	HP:0020111	Abnormal CD4+CD25+ regulatory T cell proportion	0	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97	2
HP:0020111	HP:0020112	Increased proportion of CD4+CD25+ regulatory T cells	1	CL E G H
HP:0020111	HP:0020113	Decreased proportion of CD4+CD25+ regulatory T cells	1	CARD11 CL E G H	84433	16393	OMIM:615206	Card11 immunodeficiency	45
HP:0020111	HP:0020113	Decreased proportion of CD4+CD25+ regulatory T cells	1	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0020111	HP:0020113	Decreased proportion of CD4+CD25+ regulatory T cells	1	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41	65
HP:0020111	HP:0020113	Decreased proportion of CD4+CD25+ regulatory T cells	1	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97	2

Genes (4) :CARD11 CTNNBL1 IL2RA PIK3CG

Diseases (4) :OMIM:615206 OMIM:619846 OMIM:606367 OMIM:619802

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen