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:
Lymphoproliferative disorder (HP:0005523)

Parent Node:
Paraproteinemia (HP:0031047)

..Starting node
..Monoclonal immunoglobulin M proteinemia (HP:0005508)

Term ID:

5508

Name:

Monoclonal immunoglobulin M proteinemia

Synonym:

Waldenstrom macroglobulinemia

Definition:

Presence of a monoclonal immunoglobulin M protein in the serum.

Comments:

Reference:

HP:0005508

Genes and Diseases:

Child Nodes:

Sister Nodes:

Heavy-chain paraproteinemia (HP:0031049)

Light-chain paraproteinemia (HP:0031048)

Whole-immunoglobulin paraproteinemia (HP:0031050)

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:0005508	HP:0005508	Monoclonal immunoglobulin M proteinemia	0	MYD88 CL E G H	4615	7562	OMIM:153600	Macroglobulinemia, Waldenstrom, somatic	.	9
HP:0005508	HP:0005508	Monoclonal immunoglobulin M proteinemia	0	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia	HP:0040281 - Very frequent	9

Genes (1) :MYD88

Diseases (2) :OMIM:153600 ORPHA:33226

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