Human Phenotype Ontology 
Grandparent Node:
expandAbnormal B cell subset distribution (HP:0025539)help
Parent Node:
expandAbnormal proportion of transitional B cells (HP:0030379)help
..Starting node
..expandIncreased proportion of transitional B cells (HP:0030381)help
Term ID: 30381
Name: Increased proportion of transitional B cells
Synonym: Increased proportion of CD19+CD38+IgM+ cells
Definition: An elevation 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:0030381
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandDecreased proportion of transitional B cells (HP:0030380) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030381HP:0030381Increased proportion of transitional B cells0ARHGEF1 CL E G H9138681OMIM:618459Immunodeficiency 62
HP:0030381HP:0030381Increased proportion of transitional B cells0PIK3CD CL E G H52938977OMIM:615513IMMUNODEFICIENCY 14; IMD149
HP:0030381HP:0030381Increased proportion of transitional B cells0PIK3R1 CL E G H52958979OMIM:616005Immunodeficiency 3643


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.