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 basophil morphology (HP:0001912)

Parent Node:
Abnormal basophil count (HP:0031806)

..Starting node
..Decreased basophil count (HP:0031808)

Term ID:

31808

Name:

Decreased basophil count

Synonym:

Definition:

An abnormally reduced count of basophils per volume in the blood circulation.

Comments:

Reference:

HP:0031808

Genes and Diseases:

Child Nodes:

Sister Nodes:

Increased basophil count (HP:0031807)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031808	HP:0031808	Decreased basophil count	0	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60

Genes (1) :BACH2

Diseases (1) :OMIM:618394

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