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:
Immunodeficiency (HP:0002721)

..Starting node
..Humoral immunodeficiency (HP:0005363)

Term ID:

5363

Name:

Humoral immunodeficiency

Synonym:

Definition:

A general term referring to a defect in immunity resulting from impaired antibody production.

Comments:

Reference:

HP:0005363

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cellular immunodeficiency (HP:0005374)

Combined immunodeficiency (HP:0005387)

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:0005363	HP:0005363	Humoral immunodeficiency	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040284 - Very rare	291
HP:0005363	HP:0005363	Humoral immunodeficiency	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040284 - Very rare	291
HP:0005363	HP:0005363	Humoral immunodeficiency	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040284 - Very rare	250
HP:0005363	HP:0005363	Humoral immunodeficiency	0	PNP CL E G H	4860	7892	ORPHA:760	Purine nucleoside phosphorylase deficiency	HP:0040282 - Frequent	52

Genes (3) :CREBBP EP300 PNP

Diseases (4) :ORPHA:353281 ORPHA:353277 ORPHA:353284 ORPHA:760

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