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 morphology (HP:0002846)

Grandparent Node:
Abnormal cellular physiology (HP:0011017)

Parent Node:
Abnormality of B cell physiology (HP:0005372)

..Starting node
..Defective B cell activation (HP:0005384)

Term ID:

5384

Name:

Defective B cell activation

Synonym:

Definition:

A reduced ability of a B cell to become activated, i.e., the change in morphology and behavior of

Comments:

Reference:

HP:0005384

Genes and Diseases:

Child Nodes:

........

Defective B cell differentiation (HP:0005357)

Sister Nodes:

Abnormal immunoglobulin level (HP:0010701)

Absent specific antibody response (HP:0005424)

Impaired Ig class switch recombination (HP:0002959)

Impaired memory B cell generation (HP:0002847)

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:0005384	HP:0005384	Defective B cell activation	0	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0005384	HP:0005384	Defective B cell activation	0	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY		37
HP:0005384	HP:0005384	Defective B cell activation	0	IRF2BP2 CL E G H	359948	21729	OMIM:617765	IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14		4
HP:0005384	HP:0005357	Defective B cell differentiation	1	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA	.	3267
HP:0005384	HP:0005357	Defective B cell differentiation	1	IRF2BP2 CL E G H	359948	21729	OMIM:617765	IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14		4

Genes (3) :ATM CASP8 IRF2BP2

Diseases (3) :OMIM:208900 OMIM:607271 OMIM:617765

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