Human Phenotype Ontology 
Grandparent Node:
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Decreased circulating antibody level (HP:0004313)help
Parent Node:
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Decreased circulating IgG level (HP:0004315)help
..Starting node
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Decreased circulating IgG2 level (HP:0008348)help
Term ID: 8348
Name: Decreased circulating IgG2 level
Synonym: Decreased IgG2 level in blood; Immunoglobulin IgG2 deficiency; Reduced IgG2 levels
Definition: A reduction in immunoglobulin levels of the IgG2 subclass in the blood circulation.
Comments:
Reference: HP:0008348
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:0008348HP:0008348Decreased circulating IgG2 level0ADA CL E G H100186OMIM:102700Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency.75
HP:0008348HP:0008348Decreased circulating IgG2 level0ATM CL E G H472795OMIM:208900ATAXIA-TELANGIECTASIA.3267
HP:0008348HP:0008348Decreased circulating IgG2 level0CD247 CL E G H9191677OMIM:610163IMMUNODEFICIENCY 25; IMD258
HP:0008348HP:0008348Decreased circulating IgG2 level0CD3G CL E G H9171675OMIM:615607Immunodeficiency 1719
HP:0008348HP:0008348Decreased circulating IgG2 level0CTPS1 CL E G H15032519OMIM:615897IMMUNODEFICIENCY 24; IMD242
HP:0008348HP:0008348Decreased circulating IgG2 level0EPG5 CL E G H5772429331ORPHA:1493Vici syndromeHP:0040283 - Occasional40
HP:0008348HP:0008348Decreased circulating IgG2 level0EPG5 CL E G H5772429331OMIM:242840Vici syndrome.40
HP:0008348HP:0008348Decreased circulating IgG2 level0PIK3CD CL E G H52938977OMIM:615513IMMUNODEFICIENCY 14; IMD149
HP:0008348HP:0041062Transient decreased circulating IgG21 CL E G H
HP:0008348HP:0041063Chronic decreased cirulating IgG21CD3G CL E G H9171675OMIM:615607Immunodeficiency 1719
HP:0008348HP:0041066Chronic partially decreased circulating IgG22 CL E G H
HP:0008348HP:0041065Chronic (near) absent circulating IgG22 CL E G H


Genes (7) :ADA ATM CD247 CD3G CTPS1 EPG5 PIK3CD

Diseases (8) :OMIM:102700 OMIM:208900 OMIM:610163 OMIM:615607 OMIM:615897 ORPHA:1493 OMIM:242840 OMIM:615513
 

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