Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

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
..Dysgammaglobulinemia (HP:0002961)

Term ID:

2961

Name:

Dysgammaglobulinemia

Synonym:

Definition:

Selective deficiency of one or more, but not all, classes of immunoglobulins.

Comments:

Reference:

HP:0002961

Genes and Diseases:

Child Nodes:

Sister Nodes:

Agammaglobulinemia (HP:0004432)

Decreased circulating IgA level (HP:0002720)

Decreased circulating IgE (HP:0005479)

Decreased circulating IgG level (HP:0004315)

Decreased circulating total IgM (HP:0002850)

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:0002961	HP:0002961	Dysgammaglobulinemia	0	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM	.	33
HP:0002961	HP:0002961	Dysgammaglobulinemia	0	IKBKG CL E G H	8517	5961	OMIM:300291	ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID1		52
HP:0002961	HP:0002961	Dysgammaglobulinemia	0	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome	.	706
HP:0002961	HP:0002961	Dysgammaglobulinemia	0	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		37
HP:0002961	HP:0002961	Dysgammaglobulinemia	0	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		81

Genes (5) :CD40LG IKBKG NBN SH2D1A XIAP

Diseases (4) :OMIM:308230 OMIM:300291 OMIM:251260 OMIM:308240

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