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

..Starting node
..Transient neutropenia (HP:0410255)

Term ID:

410255

Name:

Transient neutropenia

Synonym:

Definition:

A transient reduction in the number of neutrophils in the peripheral blood. Transient neutropenia is most commonly associated with viral infections, but other causes include drugs and autoimmunity.

Comments:

Reference:

HP:0410255

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:0410255	HP:0410255	Transient neutropenia	0	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7		38
HP:0410255	HP:0410255	Transient neutropenia	0	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	5
HP:0410255	HP:0410255	Transient neutropenia	0	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	1
HP:0410255	HP:0410255	Transient neutropenia	0	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome	HP:0040282 - Frequent	2
HP:0410255	HP:0410255	Transient neutropenia	0	IRAK4 CL E G H	51135	17967	OMIM:607676	Immunodeficiency 67		58
HP:0410255	HP:0410255	Transient neutropenia	0	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent	26
HP:0410255	HP:0410255	Transient neutropenia	0	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0410255	HP:0410255	Transient neutropenia	0	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent
HP:0410255	HP:0410256	Infection associated neutropenia	1	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7	HP:0040282 - Frequent	38

Genes (8) :CLPB DNAJC21 EFL1 FIBP IRAK4 SBDS SPI1 SRP54

Diseases (5) :ORPHA:445038 ORPHA:811 ORPHA:500095 OMIM:607676 OMIM:619707

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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