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:
Abnormal immunoglobulin level (HP:0010701)

Parent Node:
Decreased circulating antibody level (HP:0004313)

..Starting node
..Decreased circulating IgE (HP:0005479)

Term ID:

5479

Name:

Decreased circulating IgE

Synonym:

Decreased IgE; IgE deficiency

Definition:

An abnormally decreased level of immunoglobulin E (IgE) in blood.

Comments:

Reference:

HP:0005479

Genes and Diseases:

Child Nodes:

Sister Nodes:

Agammaglobulinemia (HP:0004432)

Decreased circulating IgA level (HP:0002720)

Decreased circulating IgG level (HP:0004315)

Decreased circulating total IgM (HP:0002850)

Dysgammaglobulinemia (HP:0002961)

Panhypogammaglobulinemia (HP:0003139)

Transient hypogammaglobulinemia of infancy (HP:0005432)

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:0005479	HP:0005479	Decreased circulating IgE	0	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0005479	HP:0005479	Decreased circulating IgE	0	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0005479	HP:0005479	Decreased circulating IgE	0	CD40 CL E G H	958	11919	OMIM:606843	Immunodeficiency with hyper-igm, type 3	.	27
HP:0005479	HP:0005479	Decreased circulating IgE	0	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM	.	33
HP:0005479	HP:0005479	Decreased circulating IgE	0	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked		48
HP:0005479	HP:0005479	Decreased circulating IgE	0	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0005479	HP:0005479	Decreased circulating IgE	0	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0005479	HP:0033021	Transient decreased circulating IgE	1	CL E G H
HP:0005479	HP:0033023	Chronic absent circulating IgE	1	CL E G H
HP:0005479	HP:0033022	Chronic decreased circulating IgE	1	CL E G H

Genes (7) :BACH2 BTK CD40 CD40LG IL2RG TCF3 TOM1

Diseases (7) :OMIM:618394 OMIM:300755 OMIM:606843 OMIM:308230 OMIM:300400 OMIM:619824 OMIM:619510

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