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 neutrophil physiology (HP:0011990)

Parent Node:
Impaired neutrophil bactericidal activity (HP:0011993)

..Starting node
..Impaired oxidative burst (HP:0003203)

Term ID:

3203

Name:

Impaired oxidative burst

Synonym:

Negative NBT reduction test; Negative nitroblue tetrazolium reduction test

Definition:

In the NBT test, neutrophils change the colorless compound NBT into a compound with a deep blue color. If this test is negative (i.e., no blue color is produced), then this indicates a defect in superoxide-generating NADPH oxidase activity with inability to efficiently kill phagocytized bacteria.

Comments:

Reference:

HP:0003203

Genes and Diseases:

Child Nodes:

Sister Nodes:

Impaired neutrophil killing of staphylococci (HP:0005512)

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:0003203	HP:0003203	Impaired oxidative burst	0	CYBA CL E G H	1535	2577	OMIM:233690	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE	.	27
HP:0003203	HP:0003203	Impaired oxidative burst	0	CYBB CL E G H	1536	2578	OMIM:306400	Chronic granulomatous disease, X-linked	.	111
HP:0003203	HP:0003203	Impaired oxidative burst	0	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0003203	HP:0003203	Impaired oxidative burst	0	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B		5
HP:0003203	HP:0003203	Impaired oxidative burst	0	NCF1 CL E G H	653361	7660	OMIM:233700	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I	.	13
HP:0003203	HP:0003203	Impaired oxidative burst	0	NCF2 CL E G H	4688	7661	OMIM:233710	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II	.	67
HP:0003203	HP:0003203	Impaired oxidative burst	0	RAC2 CL E G H	5880	9802	OMIM:608203	NEUTROPHIL IMMUNODEFICIENCY SYNDROME		9

Genes (7) :CYBA CYBB CYBC1 IRF8 NCF1 NCF2 RAC2

Diseases (7) :OMIM:233690 OMIM:306400 OMIM:618935 OMIM:226990 OMIM:233700 OMIM:233710 OMIM:608203

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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