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:
Abnormality of immune serum protein physiology (HP:0011111)

Parent Node:
Abnormality of cytokine secretion (HP:0011113)

..Starting node
..Defective production of NFKB1-dependent cytokines (HP:0011114)

Term ID:

11114

Name:

Defective production of NFKB1-dependent cytokines

Synonym:

Definition:

An impairment in the production by leukocytes of NFKB1-dependent cytokines such as tumor necrosis factor-alpha and interferon-alpha.

Comments:

Reference:

HP:0011114

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormality of chemokine secretion (HP:0011115)

Abnormality of interferon secretion (HP:0011116)

Abnormality of interleukin secretion (HP:0011117)

Abnormality of tumor necrosis factor secretion (HP:0011118)

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:0011114	HP:0011114	Defective production of NFKB1-dependent cytokines	0	NFKBIA CL E G H	4792	7797	OMIM:612132	ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT	.	27

Genes (1) :NFKBIA

Diseases (1) :OMIM:612132

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