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:
Abnormality of humoral immunity (HP:0005368)

..Starting node
..Cryoglobulinemia (HP:0100778)

Term ID:

100778

Name:

Cryoglobulinemia

Synonym:

Cryoprecipitable immune complexes

Definition:

Increased level of cryoglobulins in the blood. Cryoglobulins are abnormal immunoglobulins, especially IGG or IGM, that precipitate spontaneously when serum is cooled below 37 degrees Celsius.

Comments:

Reference:

HP:0100778

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal immunoglobulin level (HP:0010701)

Abnormality of complement system (HP:0005339)

Circulating immune complexes (HP:0012224)

Decreased circulating level of specific antibody (HP:0012475)

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:0100778	HP:0100778	Cryoglobulinemia	0	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia	HP:0040283 - Occasional	9

Genes (1) :MYD88

Diseases (1) :ORPHA:33226

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

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