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
..Hyposegmentation of neutrophil nuclei (HP:0011447)

Term ID:

11447

Name:

Hyposegmentation of neutrophil nuclei

Synonym:

Hyposegmentation of neutrophil nuclei in peripheral blood; Pelger-Huet anomaly

Definition:

Hyposegmented (hypolobulated) or bilobed neutrophil nuclei.

Comments:

Reference:

HP:0011447

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absent neutrophil specific granules (HP:0012551)

Hypersegmentation of neutrophil nuclei (HP:0004821)

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:0011447	HP:0011447	Hyposegmentation of neutrophil nuclei	0	CEBPE CL E G H	1053	1836	OMIM:260570	Pelger-Huet-Like anomaly and episodic fever with abdominal pain		3
HP:0011447	HP:0011447	Hyposegmentation of neutrophil nuclei	0	CEBPE CL E G H	1053	1836	OMIM:245480	Specific granule deficiency	.	3
HP:0011447	HP:0011447	Hyposegmentation of neutrophil nuclei	0	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly	.	70
HP:0011447	HP:0011447	Hyposegmentation of neutrophil nuclei	0	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0011447	HP:0011447	Hyposegmentation of neutrophil nuclei	0	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly		25
HP:0011447	HP:0011447	Hyposegmentation of neutrophil nuclei	0	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040283 - Occasional	19
HP:0011447	HP:0011447	Hyposegmentation of neutrophil nuclei	0	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040283 - Occasional	3
HP:0011447	HP:0011447	Hyposegmentation of neutrophil nuclei	0	TMEM147 CL E G H	10430	30414	OMIM:620075

Genes (6) :CEBPE LBR NBAS SF3B1 TET2 TMEM147

Diseases (7) :OMIM:260570 OMIM:245480 OMIM:169400 OMIM:618019 OMIM:614800 ORPHA:75564 OMIM:620075

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