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

..Starting node
..Chronic partially decreased circulating IgG1 (HP:0041070)

Term ID:

41070

Name:

Chronic partially decreased circulating IgG1

Synonym:

Chronic partially decreased IgG1 in blood

Definition:

A lasting limited decrease of immunoglobulin G1 (IgG1) in the blood.

Comments:

Reference:

HP:0041070

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0041070	HP:0041070	Chronic partially decreased circulating IgG1	0	CR2 CL E G H	1380	2336	OMIM:614699	IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID7	10

Genes (1) :CR2

Diseases (1) :OMIM:614699

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