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 count (HP:0010975)

Parent Node:
Abnormal B cell subset distribution (HP:0025539)

..Starting node
..Abnormal proportion of transitional B cells (HP:0030379)

Term ID:

30379

Name:

Abnormal proportion of transitional B cells

Synonym:

Abnormal proportion of CD19+CD38+IgM+ cells

Definition:

A deviation in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells.

Comments:

Reference:

HP:0030379

Genes and Diseases:

Child Nodes:

........

Decreased proportion of transitional B cells (HP:0030380)

........

Increased proportion of transitional B cells (HP:0030381)

Sister Nodes:

Abnormal proportion of immature B cells (HP:0030376)

Abnormal proportion of memory B cells (HP:0030373)

Abnormal proportion of naive B cells (HP:0030370)

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:0030379	HP:0030379	Abnormal proportion of transitional B cells	0	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0030379	HP:0030379	Abnormal proportion of transitional B cells	0	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14	9
HP:0030379	HP:0030379	Abnormal proportion of transitional B cells	0	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36	43
HP:0030379	HP:0030380	Decreased proportion of transitional B cells	1	CL E G H
HP:0030379	HP:0030381	Increased proportion of transitional B cells	1	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0030379	HP:0030381	Increased proportion of transitional B cells	1	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14	9
HP:0030379	HP:0030381	Increased proportion of transitional B cells	1	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36	43

Genes (3) :ARHGEF1 PIK3CD PIK3R1

Diseases (3) :OMIM:618459 OMIM:615513 OMIM:616005

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

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