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:
Abnormal circulating beta globulin level (HP:0025465)

Parent Node:
Abnormality of circulating beta-2-microglobulin level (HP:0025345)

..Starting node
..Decreased circulating beta-2-microglobulin level (HP:0025347)

Term ID:

25347

Name:

Decreased circulating beta-2-microglobulin level

Synonym:

Reduced circulating beta-2-microglobulin level

Definition:

Reduced concentration of beta-2-microglobulin in the blood.

Comments:

Reference:

HP:0025347

Genes and Diseases:

Child Nodes:

Sister Nodes:

Increased circulating beta-2-microglobulin level (HP:0025346)

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:0025347	HP:0025347	Decreased circulating beta-2-microglobulin level	0	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43		8
HP:0025347	HP:0025347	Decreased circulating beta-2-microglobulin level	0	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	118
HP:0025347	HP:0025347	Decreased circulating beta-2-microglobulin level	0	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	38
HP:0025347	HP:0025347	Decreased circulating beta-2-microglobulin level	0	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	26
HP:0025347	HP:0025347	Decreased circulating beta-2-microglobulin level	0	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	34

Genes (5) :B2M CIITA RFX5 RFXANK RFXAP

Diseases (2) :OMIM:241600 ORPHA:572

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