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 granulocyte morphology (HP:0001911)

Parent Node:
Abnormality of neutrophils (HP:0001874)

..Starting node
..Abnormality of neutrophil morphology (HP:0011992)

Term ID:

11992

Name:

Abnormality of neutrophil morphology

Synonym:

Definition:

An abnormal form or size of neutrophils.

Comments:

Reference:

HP:0011992

Genes and Diseases:

Child Nodes:

........

Hypersegmentation of neutrophil nuclei (HP:0004821)

........

Neutrophil inclusion bodies (HP:0008264)

................... HP:0040235 Leukocyte inclusion bodies

........

Hyposegmentation of neutrophil nuclei (HP:0011447)

........

Absent neutrophil specific granules (HP:0012551)

........

Increased neutrophil nuclear projections (HP:0012552)

........

Pyknotic bone marrow neutrophils (HP:0031019)

Sister Nodes:

Abnormal neutrophil count (HP:0011991)

Abnormality of neutrophil physiology (HP:0011990)

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:0011992	HP:0011992	Abnormality of neutrophil morphology	0	AMN CL E G H	81693	14604	ORPHA:35858	Imerslund-Gräsbeck syndrome		25
HP:0011992	HP:0011992	Abnormality of neutrophil morphology	0	CEBPE CL E G H	1053	1836	OMIM:260570	Pelger-Huet-Like anomaly and episodic fever with abdominal pain		3
HP:0011992	HP:0011992	Abnormality of neutrophil morphology	0	CEBPE CL E G H	1053	1836	OMIM:245480	Specific granule deficiency		3
HP:0011992	HP:0011992	Abnormality of neutrophil morphology	0	CUBN CL E G H	8029	2548	ORPHA:35858	Imerslund-Gräsbeck syndrome		273
HP:0011992	HP:0011992	Abnormality of neutrophil morphology	0	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome	HP:0040281 - Very frequent	9
HP:0011992	HP:0011992	Abnormality of neutrophil morphology	0	FTCD CL E G H	10841	3974	OMIM:229100	Formiminotransferase deficiency		65
HP:0011992	HP:0011992	Abnormality of neutrophil morphology	0	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly		70
HP:0011992	HP:0011992	Abnormality of neutrophil morphology	0	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0011992	HP:0011992	Abnormality of neutrophil morphology	0	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome		239
HP:0011992	HP:0011992	Abnormality of neutrophil morphology	0	MYH9 CL E G H	4627	7579	OMIM:155100	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss		297
HP:0011992	HP:0011992	Abnormality of neutrophil morphology	0	MYH9 CL E G H	4627	7579	ORPHA:182050	MYH9-related disease		297
HP:0011992	HP:0011992	Abnormality of neutrophil morphology	0	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly		25
HP:0011992	HP:0011992	Abnormality of neutrophil morphology	0	RPS14 CL E G H	6208	10387	ORPHA:86841	Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality	HP:0040283 - Occasional
HP:0011992	HP:0011992	Abnormality of neutrophil morphology	0	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia		19
HP:0011992	HP:0011992	Abnormality of neutrophil morphology	0	SLC19A1 CL E G H	6573	10937	OMIM:601775	FOLATE LEVEL IN ERYTHROCYTES		1
HP:0011992	HP:0011992	Abnormality of neutrophil morphology	0	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2		3
HP:0011992	HP:0011992	Abnormality of neutrophil morphology	0	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia		3
HP:0011992	HP:0011992	Abnormality of neutrophil morphology	0	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0011992	HP:0031019	Pyknotic bone marrow neutrophils	1	CL E G H
HP:0011992	HP:0012552	Increased neutrophil nuclear projections	1	CL E G H
HP:0011992	HP:0004821	Hypersegmentation of neutrophil nuclei	1	AMN CL E G H	81693	14604	ORPHA:35858	Imerslund-Gräsbeck syndrome	HP:0040281 - Very frequent	25
HP:0011992	HP:0011447	Hyposegmentation of neutrophil nuclei	1	CEBPE CL E G H	1053	1836	OMIM:260570	Pelger-Huet-Like anomaly and episodic fever with abdominal pain		3
HP:0011992	HP:0041046	Increased neutrophil ribosomes	1	CEBPE CL E G H	1053	1836	OMIM:245480	Specific granule deficiency	.	3
HP:0011992	HP:0041045	Increased neutrophil mitochondria	1	CEBPE CL E G H	1053	1836	OMIM:245480	Specific granule deficiency	.	3
HP:0011992	HP:0011447	Hyposegmentation of neutrophil nuclei	1	CEBPE CL E G H	1053	1836	OMIM:245480	Specific granule deficiency	.	3
HP:0011992	HP:0012551	Absent neutrophil specific granules	1	CEBPE CL E G H	1053	1836	OMIM:245480	Specific granule deficiency	.	3
HP:0011992	HP:0004821	Hypersegmentation of neutrophil nuclei	1	CUBN CL E G H	8029	2548	ORPHA:35858	Imerslund-Gräsbeck syndrome	HP:0040281 - Very frequent	273
HP:0011992	HP:0004821	Hypersegmentation of neutrophil nuclei	1	FTCD CL E G H	10841	3974	OMIM:229100	Formiminotransferase deficiency	.	65
HP:0011992	HP:0011447	Hyposegmentation of neutrophil nuclei	1	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly	.	70
HP:0011992	HP:0011447	Hyposegmentation of neutrophil nuclei	1	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0011992	HP:0032499	Giant neutrophil granules	1	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome		239
HP:0011992	HP:0008264	Neutrophil inclusion bodies	1	MYH9 CL E G H	4627	7579	OMIM:155100	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	.	297
HP:0011992	HP:0008264	Neutrophil inclusion bodies	1	MYH9 CL E G H	4627	7579	ORPHA:182050	MYH9-related disease	HP:0040282 - Frequent	297
HP:0011992	HP:0011447	Hyposegmentation of neutrophil nuclei	1	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly		25
HP:0011992	HP:0011447	Hyposegmentation of neutrophil nuclei	1	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040283 - Occasional	19
HP:0011992	HP:0004821	Hypersegmentation of neutrophil nuclei	1	SLC19A1 CL E G H	6573	10937	OMIM:601775	FOLATE LEVEL IN ERYTHROCYTES		1
HP:0011992	HP:0012551	Absent neutrophil specific granules	1	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2		3
HP:0011992	HP:0011447	Hyposegmentation of neutrophil nuclei	1	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040283 - Occasional	3
HP:0011992	HP:0011447	Hyposegmentation of neutrophil nuclei	1	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0011992	HP:0041042	Absent neutrophil lactoferrin	2	CEBPE CL E G H	1053	1836	OMIM:245480	Specific granule deficiency	.	3
HP:0011992	HP:0040235	Leukocyte inclusion bodies	2	MYH9 CL E G H	4627	7579	OMIM:155100	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	.	297

Genes (15) :AMN CEBPE CUBN CXCR4 FTCD LBR LYST MYH9 NBAS RPS14 SF3B1 SLC19A1 SMARCD2 TET2 TMEM147

Diseases (16) :ORPHA:35858 OMIM:260570 OMIM:245480 ORPHA:51636 OMIM:229100 OMIM:169400 OMIM:618019 OMIM:214500 OMIM:155100 ORPHA:182050 OMIM:614800 ORPHA:86841 ORPHA:75564 OMIM:601775 OMIM:617475 OMIM:620075

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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