Human Phenotype Ontology 
..Starting node
..expandIncreased proportion autoreactive unresponsive CD21-/low B cells (HP:0033207)help
Term ID: 33207
Name: Increased proportion autoreactive unresponsive CD21-/low B cells
Synonym:
Definition: Increased proportion relative to B-lymphocytes of a subset of B lymphocytes characterized by dim/low levels of CD21, i.e., CD21-/low, in flow cytometry, and additionally enriched in autoreactive clones as determined for instance by clonse showing rheumatoid factor (anti-IgG) reactivity and antibodies recognizing cytoplasmic and to a lesser extent nuclear structures.
Comments:
Reference: HP:0033207
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:0033207HP:0033207Increased proportion autoreactive unresponsive CD21-/low B cells0PRKCD CL E G H55809399OMIM:615559AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS310
HP:0033207HP:0033207Increased proportion autoreactive unresponsive CD21-/low B cells0RASGRP1 CL E G H101259878OMIM:618534IMMUNODEFICIENCY 64; IMD64


Genes (2) :PRKCD RASGRP1

Diseases (2) :OMIM:615559 OMIM:618534
 

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