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 thrombocytes (HP:0001872)

Parent Node:
Abnormal platelet volume (HP:0011876)

..Starting node
..Decreased mean platelet volume (HP:0005537)

Term ID:

5537

Name:

Decreased mean platelet volume

Synonym:

Small platelet size; Small platelets; Small platelets size

Definition:

Average platelet volume below the lower limit of the normal reference interval.

Comments:

Reference:

HP:0005537

Genes and Diseases:

Child Nodes:

Sister Nodes:

Increased mean platelet volume (HP:0011877)

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:0005537	HP:0005537	Decreased mean platelet volume	0	ARPC1B CL E G H	10095	704	OMIM:617718	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease	.
HP:0005537	HP:0005537	Decreased mean platelet volume	0	FYB1 CL E G H	2533	4036	OMIM:273900	THROMBOCYTOPENIA 3; THC3		4
HP:0005537	HP:0005537	Decreased mean platelet volume	0	WAS CL E G H	7454	12731	OMIM:313900	Thrombocytopenia 1	.	65
HP:0005537	HP:0005537	Decreased mean platelet volume	0	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65

Genes (3) :ARPC1B FYB1 WAS

Diseases (4) :OMIM:617718 OMIM:273900 OMIM:313900 OMIM:301000

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