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 the immune system (HP:0002715)

Parent Node:
Abnormality of immune system physiology (HP:0010978)

..Starting node
..Abnormal lymphocyte surface marker expression (HP:0031383)

Term ID:

31383

Name:

Abnormal lymphocyte surface marker expression

Synonym:

Definition:

Abnormal amount of a protein that is normally present on the cell surface of lymphocytes.

Comments:

Reference:

HP:0031383

Genes and Diseases:

Child Nodes:

........

Reduced lymphocyte surface expression of CD43 (HP:0001983)

........

Reduced T cell CD40 expression (HP:0031384)

Sister Nodes:

Abnormal inflammatory response (HP:0012647)

Abnormal lymphocyte physiology (HP:0031409)

Abnormal MHC II surface expression (HP:0031389)

Abnormality of humoral immunity (HP:0005368)

Abnormality of immune serum protein physiology (HP:0011111)

Autoimmunity (HP:0002960)

Chronic infection (HP:0031035)

Immune dysregulation (HP:0002958)

Immunodeficiency (HP:0002721)

Immunologic hypersensitivity (HP:0100326)

Impaired antigen-specific response (HP:0031404)

Opportunistic infection (HP:0031690)

Recurrent infections (HP:0002719)

Sepsis (HP:0100806)

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:0031383	HP:0031383	Abnormal lymphocyte surface marker expression	0	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0031383	HP:0031384	Reduced T cell CD40 expression	1	CL E G H
HP:0031383	HP:0001983	Reduced lymphocyte surface expression of CD43	1	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.