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:
Abnormal granulocyte morphology (HP:0001911)

Parent Node:
Abnormal eosinophil morphology (HP:0001879)

..Starting node
..Decreased eosinophil count (HP:0031891)

Term ID:

31891

Name:

Decreased eosinophil count

Synonym:

Definition:

Abnormal reduction in the count of eosinophils in the blood per volume.

Comments:

Reference:

HP:0031891

Genes and Diseases:

Child Nodes:

Sister Nodes:

Eosinophilia (HP:0001880)

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:0031891	HP:0031891	Decreased eosinophil count	0	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0031891	HP:0031891	Decreased eosinophil count	0	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0031891	HP:0031891	Decreased eosinophil count	0	CARD10 CL E G H	29775	16422	OMIM:619632	IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89		5
HP:0031891	HP:0031891	Decreased eosinophil count	0	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0031891	HP:0031891	Decreased eosinophil count	0	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia	HP:0040283 - Occasional	79
HP:0031891	HP:0031891	Decreased eosinophil count	0	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0031891	HP:0031891	Decreased eosinophil count	0	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0031891	HP:0031891	Decreased eosinophil count	0	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0031891	HP:0031891	Decreased eosinophil count	0	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7

Genes (9) :ATRX BRAF CARD10 CDH23 ELANE NR3C1 TP53 USP48 USP8

Diseases (3) :ORPHA:96253 OMIM:619632 ORPHA:2686

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