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 B cell subset distribution (HP:0025539)

Parent Node:
Abnormal proportion of memory B cells (HP:0030373)

..Starting node
..Abnormal proportion of marginal zone B cells (HP:0030383)

Term ID:

30383

Name:

Abnormal proportion of marginal zone B cells

Synonym:

Definition:

A deviation of the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells.

Comments:

Reference:

HP:0030383

Genes and Diseases:

Child Nodes:

........

Decreased proportion of marginal zone B cells (HP:0030384)

........

Increased proportion of marginal zone B cells (HP:0030385)

Sister Nodes:

Abnormal proportion of class-switched memory B cells (HP:0030386)

Decreased proportion of memory B cells (HP:0030374)

Increased proportion of memory B cells (HP:0030375)

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:0030383	HP:0030383	Abnormal proportion of marginal zone B cells	0	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD	6
HP:0030383	HP:0030385	Increased proportion of marginal zone B cells	1	CL E G H
HP:0030383	HP:0030384	Decreased proportion of marginal zone B cells	1	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD	6

Genes (1) :SOCS1

Diseases (1) :OMIM:619375

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