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:
Reduction of neutrophil motility (HP:0005400)

..Starting node
..Impaired neutrophil chemotaxis (HP:0040238)

Term ID:

40238

Name:

Impaired neutrophil chemotaxis

Synonym:

Neutrophil migratory defect

Definition:

An impairment of the migration of neutrophils towards chemoattractants as part of the innate immune response

Comments:

Reference:

HP:0040238

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0040238	HP:0040238	Impaired neutrophil chemotaxis	0	CEBPE CL E G H	1053	1836	OMIM:260570	Pelger-Huet-Like anomaly and episodic fever with abdominal pain		3
HP:0040238	HP:0040238	Impaired neutrophil chemotaxis	0	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	5
HP:0040238	HP:0040238	Impaired neutrophil chemotaxis	0	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	1
HP:0040238	HP:0040238	Impaired neutrophil chemotaxis	0	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0040238	HP:0040238	Impaired neutrophil chemotaxis	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040284 - Very rare	150
HP:0040238	HP:0040238	Impaired neutrophil chemotaxis	0	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0040238	HP:0040238	Impaired neutrophil chemotaxis	0	RAC2 CL E G H	5880	9802	OMIM:608203	NEUTROPHIL IMMUNODEFICIENCY SYNDROME		9
HP:0040238	HP:0040238	Impaired neutrophil chemotaxis	0	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	26
HP:0040238	HP:0040238	Impaired neutrophil chemotaxis	0	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent

Genes (8) :CEBPE DNAJC21 EFL1 LCP2 PMM2 RAC2 SBDS SRP54

Diseases (6) :OMIM:260570 ORPHA:811 OMIM:619374 ORPHA:79318 OMIM:618986 OMIM:608203

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