Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of immune system physiology (HP:0010978)

Parent Node:
Abnormal MHC II surface expression (HP:0031389)

..Starting node
..Reduced MHC II surface expression (HP:0031390)

Term ID:

31390

Name:

Reduced MHC II surface expression

Synonym:

Definition:

A reduction from the normal level of major histocompatibility complex class II molecules expressed at the cell surface.

Comments:

Reference:

HP:0031390

Genes and Diseases:

Child Nodes:

Sister Nodes:

Elevated MHC II surface expression (HP:0031391)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031390	HP:0031390	Reduced MHC II surface expression	0	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040280 - Obligate	118
HP:0031390	HP:0031390	Reduced MHC II surface expression	0	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040280 - Obligate	38
HP:0031390	HP:0031390	Reduced MHC II surface expression	0	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040280 - Obligate	26
HP:0031390	HP:0031390	Reduced MHC II surface expression	0	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040280 - Obligate	34

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.