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

..Starting node
..Abnormality of cytokine secretion (HP:0011113)

Term ID:

11113

Name:

Abnormality of cytokine secretion

Synonym:

Definition:

An abnormality in the production or cellular release of a cytokine (i.e., any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells).

Comments:

Reference:

HP:0011113

Genes and Diseases:

Child Nodes:

........

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

........

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)

Sister Nodes:

Abnormal cytokine signaling (HP:0031406)

Abnormality of serum cytokine level (HP:0011112)

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:0011113	HP:0011113	Abnormality of cytokine secretion	0	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome		281
HP:0011113	HP:0011113	Abnormality of cytokine secretion	0	NFKBIA CL E G H	4792	7797	OMIM:612132	ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT		27
HP:0011113	HP:0011113	Abnormality of cytokine secretion	0	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		58
HP:0011113	HP:0011113	Abnormality of cytokine secretion	0	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		85
HP:0011113	HP:0011113	Abnormality of cytokine secretion	0	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		70
HP:0011113	HP:0011113	Abnormality of cytokine secretion	0	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		116
HP:0011113	HP:0011116	Abnormality of interferon secretion	1	CL E G H
HP:0011113	HP:0011115	Abnormality of chemokine secretion	1	CL E G H
HP:0011113	HP:0033041	Cytokine storm	1	CL E G H
HP:0011113	HP:0011117	Abnormality of interleukin secretion	1	CL E G H
HP:0011113	HP:0011118	Abnormality of tumor necrosis factor secretion	1	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome	HP:0040282 - Frequent	281
HP:0011113	HP:0011114	Defective production of NFKB1-dependent cytokines	1	NFKBIA CL E G H	4792	7797	OMIM:612132	ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT	.	27
HP:0011113	HP:0011118	Abnormality of tumor necrosis factor secretion	1	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040281 - Very frequent	58
HP:0011113	HP:0011118	Abnormality of tumor necrosis factor secretion	1	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040281 - Very frequent	85
HP:0011113	HP:0011118	Abnormality of tumor necrosis factor secretion	1	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040281 - Very frequent	70
HP:0011113	HP:0011118	Abnormality of tumor necrosis factor secretion	1	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040281 - Very frequent	116

Genes (6) :MEFV NFKBIA PRF1 STX11 STXBP2 UNC13D

Diseases (3) :ORPHA:3243 OMIM:612132 ORPHA:540

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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