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 alpha-beta T cell morphology (HP:0030333)

Parent Node:
Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell morphology (HP:0030334)

..Starting node
..Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell count (HP:0030335)

Term ID:

30335

Name:

Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell count

Synonym:

Definition:

A deviation from the normal count of CD4-positive, CD25-positive, alpha-beta regulatory T cells.

Comments:

Reference:

HP:0030335

Genes and Diseases:

Child Nodes:

........

Absence of CD4-positive, CD25-positive regulatory T cells (HP:0030336)

........

Elevated CD4-positive, CD25-positive regulatory T cell count (HP:0030337)

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030335	HP:0030335	Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell count	0	CL E G H
HP:0030335	HP:0030337	Elevated CD4-positive, CD25-positive regulatory T cell count	1	CL E G H
HP:0030335	HP:0030336	Absence of CD4-positive, CD25-positive regulatory T cells	1	CL E G H

Genes (0) :

Diseases (0) :

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