Human Phenotype Ontology

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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 granulocyte morphology (HP:0001911)

Parent Node:
Abnormality of neutrophils (HP:0001874)

..Starting node
..Abnormality of neutrophil physiology (HP:0011990)

Term ID:

11990

Name:

Abnormality of neutrophil physiology

Synonym:

Definition:

A functional abnormality of neutrophils.

Comments:

Reference:

HP:0011990

Genes and Diseases:

Child Nodes:

........

Reduction of neutrophil motility (HP:0005400)

................... HP:0040238 Impaired neutrophil chemotaxis

........

Impaired neutrophil bactericidal activity (HP:0011993)

................... HP:0003203 Negative nitroblue tetrazolium reduction test
................... HP:0005512 Impaired neutrophil killing of staphylococci

Sister Nodes:

Abnormal neutrophil count (HP:0011991)

Abnormality of neutrophil morphology (HP:0011992)

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:0011990	HP:0011990	Abnormality of neutrophil physiology	0	CEBPE CL E G H	1053	1836	OMIM:260570	Pelger-Huet-Like anomaly and episodic fever with abdominal pain		3
HP:0011990	HP:0011990	Abnormality of neutrophil physiology	0	CEBPE CL E G H	1053	1836	OMIM:245480	Specific granule deficiency		3
HP:0011990	HP:0011990	Abnormality of neutrophil physiology	0	CYBA CL E G H	1535	2577	OMIM:233690	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE		27
HP:0011990	HP:0011990	Abnormality of neutrophil physiology	0	CYBB CL E G H	1536	2578	OMIM:306400	Chronic granulomatous disease, X-linked		111
HP:0011990	HP:0011990	Abnormality of neutrophil physiology	0	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0011990	HP:0011990	Abnormality of neutrophil physiology	0	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome		5
HP:0011990	HP:0011990	Abnormality of neutrophil physiology	0	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome		1
HP:0011990	HP:0011990	Abnormality of neutrophil physiology	0	GPI CL E G H	2821	4458	OMIM:613470	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency		12
HP:0011990	HP:0011990	Abnormality of neutrophil physiology	0	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B		5
HP:0011990	HP:0011990	Abnormality of neutrophil physiology	0	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0011990	HP:0011990	Abnormality of neutrophil physiology	0	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040282 - Frequent	239
HP:0011990	HP:0011990	Abnormality of neutrophil physiology	0	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome		239
HP:0011990	HP:0011990	Abnormality of neutrophil physiology	0	NCF1 CL E G H	653361	7660	OMIM:233700	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I		13
HP:0011990	HP:0011990	Abnormality of neutrophil physiology	0	NCF2 CL E G H	4688	7661	OMIM:233710	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II		67
HP:0011990	HP:0011990	Abnormality of neutrophil physiology	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG		150
HP:0011990	HP:0011990	Abnormality of neutrophil physiology	0	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0011990	HP:0011990	Abnormality of neutrophil physiology	0	RAC2 CL E G H	5880	9802	ORPHA:183707	Neutrophil immunodeficiency syndrome	HP:0040281 - Very frequent	9
HP:0011990	HP:0011990	Abnormality of neutrophil physiology	0	RAC2 CL E G H	5880	9802	OMIM:608203	NEUTROPHIL IMMUNODEFICIENCY SYNDROME		9
HP:0011990	HP:0011990	Abnormality of neutrophil physiology	0	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome		26
HP:0011990	HP:0011990	Abnormality of neutrophil physiology	0	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc		71
HP:0011990	HP:0011990	Abnormality of neutrophil physiology	0	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome
HP:0011990	HP:0410251	Abnormal L-selectin shedding	1	CL E G H
HP:0011990	HP:0005400	Reduction of neutrophil motility	1	CEBPE CL E G H	1053	1836	OMIM:260570	Pelger-Huet-Like anomaly and episodic fever with abdominal pain		3
HP:0011990	HP:0011993	Impaired neutrophil bactericidal activity	1	CEBPE CL E G H	1053	1836	OMIM:245480	Specific granule deficiency		3
HP:0011990	HP:0011993	Impaired neutrophil bactericidal activity	1	CYBA CL E G H	1535	2577	OMIM:233690	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE		27
HP:0011990	HP:0011993	Impaired neutrophil bactericidal activity	1	CYBB CL E G H	1536	2578	OMIM:306400	Chronic granulomatous disease, X-linked		111
HP:0011990	HP:0011993	Impaired neutrophil bactericidal activity	1	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0011990	HP:0005400	Reduction of neutrophil motility	1	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome		5
HP:0011990	HP:0005400	Reduction of neutrophil motility	1	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome		1
HP:0011990	HP:0011993	Impaired neutrophil bactericidal activity	1	GPI CL E G H	2821	4458	OMIM:613470	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency		12
HP:0011990	HP:0011993	Impaired neutrophil bactericidal activity	1	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B		5
HP:0011990	HP:0005400	Reduction of neutrophil motility	1	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0011990	HP:0011993	Impaired neutrophil bactericidal activity	1	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome		239
HP:0011990	HP:0011993	Impaired neutrophil bactericidal activity	1	NCF1 CL E G H	653361	7660	OMIM:233700	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I		13
HP:0011990	HP:0011993	Impaired neutrophil bactericidal activity	1	NCF2 CL E G H	4688	7661	OMIM:233710	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II		67
HP:0011990	HP:0005400	Reduction of neutrophil motility	1	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG		150
HP:0011990	HP:0005400	Reduction of neutrophil motility	1	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0011990	HP:0011993	Impaired neutrophil bactericidal activity	1	RAC2 CL E G H	5880	9802	OMIM:608203	NEUTROPHIL IMMUNODEFICIENCY SYNDROME		9
HP:0011990	HP:0005400	Reduction of neutrophil motility	1	RAC2 CL E G H	5880	9802	OMIM:608203	NEUTROPHIL IMMUNODEFICIENCY SYNDROME		9
HP:0011990	HP:0005400	Reduction of neutrophil motility	1	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome		26
HP:0011990	HP:0005400	Reduction of neutrophil motility	1	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc	.	71
HP:0011990	HP:0005400	Reduction of neutrophil motility	1	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome
HP:0011990	HP:0005512	Impaired neutrophil killing of staphylococci	2	CL E G H
HP:0011990	HP:0040238	Impaired neutrophil chemotaxis	2	CEBPE CL E G H	1053	1836	OMIM:260570	Pelger-Huet-Like anomaly and episodic fever with abdominal pain		3
HP:0011990	HP:0003203	Impaired oxidative burst	2	CYBA CL E G H	1535	2577	OMIM:233690	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE	.	27
HP:0011990	HP:0003203	Impaired oxidative burst	2	CYBB CL E G H	1536	2578	OMIM:306400	Chronic granulomatous disease, X-linked	.	111
HP:0011990	HP:0003203	Impaired oxidative burst	2	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0011990	HP:0040238	Impaired neutrophil chemotaxis	2	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	5
HP:0011990	HP:0040238	Impaired neutrophil chemotaxis	2	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	1
HP:0011990	HP:0003203	Impaired oxidative burst	2	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B		5
HP:0011990	HP:0040238	Impaired neutrophil chemotaxis	2	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0011990	HP:0003203	Impaired oxidative burst	2	NCF1 CL E G H	653361	7660	OMIM:233700	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I	.	13
HP:0011990	HP:0003203	Impaired oxidative burst	2	NCF2 CL E G H	4688	7661	OMIM:233710	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II	.	67
HP:0011990	HP:0040238	Impaired neutrophil chemotaxis	2	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040284 - Very rare	150
HP:0011990	HP:0040238	Impaired neutrophil chemotaxis	2	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0011990	HP:0040238	Impaired neutrophil chemotaxis	2	RAC2 CL E G H	5880	9802	OMIM:608203	NEUTROPHIL IMMUNODEFICIENCY SYNDROME		9
HP:0011990	HP:0003203	Impaired oxidative burst	2	RAC2 CL E G H	5880	9802	OMIM:608203	NEUTROPHIL IMMUNODEFICIENCY SYNDROME		9
HP:0011990	HP:0040238	Impaired neutrophil chemotaxis	2	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	26
HP:0011990	HP:0040238	Impaired neutrophil chemotaxis	2	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent

Genes (17) :CEBPE CYBA CYBB CYBC1 DNAJC21 EFL1 GPI IRF8 LCP2 LYST NCF1 NCF2 PMM2 RAC2 SBDS SLC35C1 SRP54

Diseases (18) :OMIM:260570 OMIM:245480 OMIM:233690 OMIM:306400 OMIM:618935 ORPHA:811 OMIM:613470 OMIM:226990 OMIM:619374 ORPHA:167 OMIM:214500 OMIM:233700 OMIM:233710 ORPHA:79318 OMIM:618986 ORPHA:183707 OMIM:608203 OMIM:266265

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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