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:
Lymphopenia (HP:0001888)

Parent Node:
B lymphocytopenia (HP:0010976)

..Starting node
..Severe B lymphocytopenia (HP:0005365)

Term ID:

5365

Name:

Severe B lymphocytopenia

Synonym:

Absence of B cells; Absent B cells

Definition:

A severe form of B lymphocytopenia in which the count of B cells is very low or absent.

Comments:

Reference:

HP:0005365

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absent circulating B cells (HP:0030252)

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:0005365	HP:0005365	Severe B lymphocytopenia	0	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	.	75
HP:0005365	HP:0005365	Severe B lymphocytopenia	0	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome	.	94
HP:0005365	HP:0005365	Severe B lymphocytopenia	0	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome	HP:0040281 - Very frequent	11
HP:0005365	HP:0005365	Severe B lymphocytopenia	0	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0005365	HP:0005365	Severe B lymphocytopenia	0	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome	.	127
HP:0005365	HP:0005365	Severe B lymphocytopenia	0	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome	.	50

Genes (6) :ADA DCLRE1C NFKB2 PRIM1 RAG1 RAG2

Diseases (4) :OMIM:102700 OMIM:603554 ORPHA:293978 OMIM:620005

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