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 cell proliferation (HP:0031377)

Grandparent Node:
Abnormal lymphocyte physiology (HP:0031409)

Parent Node:
Abnormal lymphocyte proliferation (HP:0031378)

..Starting node
..Abnormal B cell proliferation (HP:0031380)

Term ID:

31380

Name:

Abnormal B cell proliferation

Synonym:

Definition:

Any abnormality in the multiplication or reproduction of B cells, which results in the expansion of a cell population.

Comments:

Reference:

HP:0031380

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal T cell proliferation (HP:0031379)

Decreased lymphocyte proliferation in response to mitogen (HP:0031381)

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:0031380	HP:0031380	Abnormal B cell proliferation	0	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92	1

Genes (1) :REL

Diseases (1) :OMIM:619652

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