Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of B cell physiology (HP:0005372)help
Parent Node:
expandDefective B cell activation (HP:0005384)help
..Starting node
..expandDefective B cell differentiation (HP:0005357)help
Term ID: 5357
Name: Defective B cell differentiation
Synonym:
Definition: Reduced functionality of the process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity.
Comments:
Reference: HP:0005357
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0005357HP:0005357Defective B cell differentiation0ATM CL E G H472795OMIM:208900ATAXIA-TELANGIECTASIA.3267
HP:0005357HP:0005357Defective B cell differentiation0IRF2BP2 CL E G H35994821729OMIM:617765IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID144


Genes (2) :ATM IRF2BP2

Diseases (2) :OMIM:208900 OMIM:617765
 

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