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 lymphocyte surface expression of CD43 (HP:0001983)

Term ID:

1983

Name:

Reduced lymphocyte surface expression of CD43

Synonym:

Cd43 defectively expressed on surface of blood cells; Reduced lymphocyte surface expression of sialophorin

Definition:

A reduction in the expression of CD43 on the cell surface of lymphocytes.

Comments:

Reference:

HP:0001983

Genes and Diseases:

Child Nodes:

Sister Nodes:

Reduced T cell CD40 expression (HP:0031384)

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:0001983	HP:0001983	Reduced lymphocyte surface expression of CD43	0	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome	.	65

Genes (1) :WAS

Diseases (1) :OMIM:301000

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