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:
Abnormality of immune system physiology (HP:0010978)

Parent Node:
Abnormal lymphocyte surface marker expression (HP:0031383)

..Starting node
..Reduced T cell CD40 expression (HP:0031384)

Term ID:

31384

Name:

Reduced T cell CD40 expression

Synonym:

Definition:

A deficiency in the expression of the CD40 ligand on the surface of activated T-lymphocytes.

Comments:

Reference:

HP:0031384

Genes and Diseases:

Child Nodes:

Sister Nodes:

Reduced lymphocyte surface expression of CD43 (HP:0001983)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031384	HP:0031384	Reduced T cell CD40 expression	0	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.