Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of the immune system (HP:0002715)help
Parent Node:
expandAbnormality of immune system physiology (HP:0010978)help
..Starting node
..expandAbnormal MHC II surface expression (HP:0031389)help
Term ID: 31389
Name: Abnormal MHC II surface expression
Synonym:
Definition: A deviation from the normal level of major histocompatibility complex class II molecules expressed at the cell surface.
Comments:
Reference: HP:0031389
Genes and Diseases:
 
       Child Nodes:
........expandReduced MHC II surface expression (HP:0031390) help
........expandElevated MHC II surface expression (HP:0031391) help

 Sister Nodes: 
..expandAbnormal inflammatory response (HP:0012647) help
..expandAbnormal lymphocyte physiology (HP:0031409) help
..expandAbnormal lymphocyte surface marker expression (HP:0031383) help
..expandAbnormality of humoral immunity (HP:0005368) help
..expandAbnormality of immune serum protein physiology (HP:0011111) help
..expandAutoimmunity (HP:0002960) help
..expandChronic infection (HP:0031035) help
..expandImmune dysregulation (HP:0002958) help
..expandImmunodeficiency (HP:0002721) help
..expandImmunologic hypersensitivity (HP:0100326) help
..expandImpaired antigen-specific response (HP:0031404) help
..expandOpportunistic infection (HP:0031690) help
..expandRecurrent infections (HP:0002719) help
..expandSepsis (HP:0100806) 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:0031389HP:0031389Abnormal MHC II surface expression0CIITA CL E G H42617067ORPHA:572Immunodeficiency by defective expression of MHC class II118
HP:0031389HP:0031389Abnormal MHC II surface expression0RFX5 CL E G H59939986ORPHA:572Immunodeficiency by defective expression of MHC class II38
HP:0031389HP:0031389Abnormal MHC II surface expression0RFXANK CL E G H86259987ORPHA:572Immunodeficiency by defective expression of MHC class II26
HP:0031389HP:0031389Abnormal MHC II surface expression0RFXAP CL E G H59949988ORPHA:572Immunodeficiency by defective expression of MHC class II34
HP:0031389HP:0031391Elevated MHC II surface expression1 CL E G H
HP:0031389HP:0031390Reduced MHC II surface expression1CIITA CL E G H42617067ORPHA:572Immunodeficiency by defective expression of MHC class IIHP:0040280 - Obligate118
HP:0031389HP:0031390Reduced MHC II surface expression1RFX5 CL E G H59939986ORPHA:572Immunodeficiency by defective expression of MHC class IIHP:0040280 - Obligate38
HP:0031389HP:0031390Reduced MHC II surface expression1RFXANK CL E G H86259987ORPHA:572Immunodeficiency by defective expression of MHC class IIHP:0040280 - Obligate26
HP:0031389HP:0031390Reduced MHC II surface expression1RFXAP CL E G H59949988ORPHA:572Immunodeficiency by defective expression of MHC class IIHP:0040280 - Obligate34


Genes (4) :CIITA RFX5 RFXANK RFXAP

Diseases (1) :ORPHA:572
 

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