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
..Decreased circulating total IgG (HP:0032132)

Term ID:

32132

Name:

Decreased circulating total IgG

Synonym:

Definition:

A reduction beneath the normal level of total immunoglobulin G (IgG) in the blood.

Comments:

Reference:

HP:0032132

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0032132	HP:0032132	Decreased circulating total IgG	0	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47		5
HP:0032132	HP:0032132	Decreased circulating total IgG	0	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0032132	HP:0032132	Decreased circulating total IgG	0	CD81 CL E G H	975	1701	OMIM:613496	Immunodeficiency, common variable, 6		1
HP:0032132	HP:0032132	Decreased circulating total IgG	0	CR2 CL E G H	1380	2336	OMIM:614699	IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID7		10
HP:0032132	HP:0032132	Decreased circulating total IgG	0	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0032132	HP:0032132	Decreased circulating total IgG	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0032132	HP:0032132	Decreased circulating total IgG	0	MS4A1 CL E G H	931	7315	OMIM:613495	Immunodeficiency, common variable, 5		1
HP:0032132	HP:0032132	Decreased circulating total IgG	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0032132	HP:0032132	Decreased circulating total IgG	0	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0032132	HP:0033025	Chronic absent circulating total IgG	1	CL E G H
HP:0032132	HP:0032133	Transient decreased circulating total IgG	1	CL E G H
HP:0032132	HP:0032134	Chronic decreased circulating total IgG	1	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47		5
HP:0032132	HP:0032134	Chronic decreased circulating total IgG	1	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0032132	HP:0032134	Chronic decreased circulating total IgG	1	CD81 CL E G H	975	1701	OMIM:613496	Immunodeficiency, common variable, 6		1
HP:0032132	HP:0032134	Chronic decreased circulating total IgG	1	MS4A1 CL E G H	931	7315	OMIM:613495	Immunodeficiency, common variable, 5		1

Genes (9) :ATP6AP1 CD19 CD81 CR2 IVNS1ABP KNSTRN MS4A1 PIK3CD SYK

Diseases (8) :OMIM:300972 OMIM:613493 OMIM:613496 OMIM:614699 OMIM:618969 ORPHA:221139 OMIM:613495 OMIM:619381

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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