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 neutrophils (HP:0001874)

Parent Node:
Abnormality of neutrophil morphology (HP:0011992)

..Starting node
..Hypersegmentation of neutrophil nuclei (HP:0004821)

Term ID:

4821

Name:

Hypersegmentation of neutrophil nuclei

Synonym:

Hypermature neutrophils; Hypersegmentation of neutrophil nuclei in peripheral blood

Definition:

An excessive division of the lobes of the nucleus of a neutrophil.

Comments:

Reference:

HP:0004821

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absent neutrophil specific granules (HP:0012551)

Hyposegmentation of neutrophil nuclei (HP:0011447)

Increased neutrophil nuclear projections (HP:0012552)

Neutrophil inclusion bodies (HP:0008264)

Pyknotic bone marrow neutrophils (HP:0031019)

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:0004821	HP:0004821	Hypersegmentation of neutrophil nuclei	0	AMN CL E G H	81693	14604	ORPHA:35858	Imerslund-Gräsbeck syndrome	HP:0040281 - Very frequent	25
HP:0004821	HP:0004821	Hypersegmentation of neutrophil nuclei	0	CUBN CL E G H	8029	2548	ORPHA:35858	Imerslund-Gräsbeck syndrome	HP:0040281 - Very frequent	273
HP:0004821	HP:0004821	Hypersegmentation of neutrophil nuclei	0	FTCD CL E G H	10841	3974	OMIM:229100	Formiminotransferase deficiency	.	65
HP:0004821	HP:0004821	Hypersegmentation of neutrophil nuclei	0	SLC19A1 CL E G H	6573	10937	OMIM:601775	FOLATE LEVEL IN ERYTHROCYTES		1

Genes (4) :AMN CUBN FTCD SLC19A1

Diseases (3) :ORPHA:35858 OMIM:229100 OMIM:601775

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