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 gamma-delta T cells (HP:0500269)

Term ID:

500269

Name:

Abnormal proportion of gamma-delta T cells

Synonym:

Abnormal proportion of gamma-delta T-lymphocytes; Abnormal proportion of gammadelta T cells; Abnormal proprotion of gamma-delta T lymphocytes

Definition:

Abnormal proportion of gamma-delta T cells relative to the total number of T cells.

Comments:

Reference:

HP:0500269

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:0500269	HP:0500269	Abnormal proportion of gamma-delta T cells	0	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52	2
HP:0500269	HP:0500269	Abnormal proportion of gamma-delta T cells	0	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96	9
HP:0500269	HP:0500271	Decreased proportion of gamma-delta T cells	1	CL E G H
HP:0500269	HP:0500270	Increased proportion of gamma-delta T cells	1	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52	2
HP:0500269	HP:0500270	Increased proportion of gamma-delta T cells	1	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96	9
HP:0500269	HP:0500274	Decreased proportion of immature gamma-delta T cells	2	CL E G H
HP:0500269	HP:0500273	Increased proportion of immature gamma-delta T cells	2	CL E G H

Genes (2) :LAT LIG1

Diseases (2) :OMIM:617514 OMIM:619774

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