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:
Increased circulating antibody level (HP:0010702)

Parent Node:
Paraproteinemia (HP:0031047)

..Starting node
..Heavy-chain paraproteinemia (HP:0031049)

Term ID:

31049

Name:

Heavy-chain paraproteinemia

Synonym:

Definition:

An abnormal immunoglobulin heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells.

Comments:

Reference:

HP:0031049

Genes and Diseases:

Child Nodes:

Sister Nodes:

Light-chain paraproteinemia (HP:0031048)

Monoclonal immunoglobulin M proteinemia (HP:0005508)

Whole-immunoglobulin paraproteinemia (HP:0031050)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031049	HP:0031049	Heavy-chain paraproteinemia	0	CL E G H
HP:0031049	HP:0020194	IgA heavy chain paraproteinemia	1	CL E G H
HP:0031049	HP:0020196	IgM heavy chain paraproteinemia	1	CL E G H
HP:0031049	HP:0020195	IgG heavy chain paraproteinemia	1	CL E G H

Genes (0) :

Diseases (0) :

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