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

Grandparent Node:
Abnormal leukocyte morphology (HP:0001881)

Parent Node:
Abnormal lymphocyte morphology (HP:0004332)

..Starting node
..Vacuolated lymphocytes (HP:0001922)

Term ID:

1922

Name:

Vacuolated lymphocytes

Synonym:

Enlarged lysosomal vacuoles in lymphocytes; Vacuolated blood lymphocytes

Definition:

The presence of clear, sharply defined vacuoles in the lymphocyte cytoplasm.

Comments:

Reference:

HP:0001922

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal B cell morphology (HP:0002846)

Abnormal lymphocyte count (HP:0040088)

Abnormal natural killer cell morphology (HP:0012176)

Abnormal T cell morphology (HP:0002843)

Absent microvilli on the surface of peripheral blood lymphocytes (HP:0002971)

Impaired lymphocyte transformation with phytohemagglutinin (HP:0003347)

Lymphocytosis (HP:0100827)

Lymphopenia (HP:0001888)

Plasmacytosis (HP:0030150)

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:0001922	HP:0001922	Vacuolated lymphocytes	0	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA	.	76
HP:0001922	HP:0001922	Vacuolated lymphocytes	0	CLN3 CL E G H	1201	2074	OMIM:204200	Ceroid lipofuscinosis, neuronal, 3	.	216
HP:0001922	HP:0001922	Vacuolated lymphocytes	0	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease		216
HP:0001922	HP:0001922	Vacuolated lymphocytes	0	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS	.	43
HP:0001922	HP:0001922	Vacuolated lymphocytes	0	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I		120
HP:0001922	HP:0001922	Vacuolated lymphocytes	0	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040281 - Very frequent	239
HP:0001922	HP:0001922	Vacuolated lymphocytes	0	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis	.	136
HP:0001922	HP:0001922	Vacuolated lymphocytes	0	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency	.	43
HP:0001922	HP:0001922	Vacuolated lymphocytes	0	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy	HP:0040281 - Very frequent	65
HP:0001922	HP:0001922	Vacuolated lymphocytes	0	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease	.	78
HP:0001922	HP:0001922	Vacuolated lymphocytes	0	SLC17A5 CL E G H	26503	10933	OMIM:604369	Salla disease	.	78

Genes (9) :AGA CLN3 FUCA1 GLB1 LYST MAN2B1 NEU1 PNPLA2 SLC17A5

Diseases (11) :OMIM:208400 OMIM:204200 ORPHA:228346 OMIM:230000 OMIM:230500 ORPHA:167 OMIM:248500 OMIM:256550 ORPHA:565612 OMIM:269920 OMIM:604369

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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