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 cellular immune system morphology (HP:0010987)

Grandparent Node:
Abnormality of blood and blood-forming tissues (HP:0001871)

Parent Node:
Abnormal leukocyte morphology (HP:0001881)

..Starting node
..Abnormal monocyte morphology (HP:0012144)

Term ID:

12144

Name:

Abnormal monocyte morphology

Synonym:

Definition:

Any structural anomaly of a myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells.

Comments:

Reference:

HP:0012144

Genes and Diseases:

Child Nodes:

........

Abnormal monocyte count (HP:0012310)

................... HP:0012311 Monocytosis
................... HP:0012312 Monocytopenia

Sister Nodes:

Abnormal leukocyte count (HP:0011893)

Abnormal lymphocyte morphology (HP:0004332)

Abnormal myeloid leukocyte morphology (HP:0010974)

Leukemia (HP:0001909)

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:0012144	HP:0012144	Abnormal monocyte morphology	0	CARD11 CL E G H	84433	16393	OMIM:615206	Card11 immunodeficiency		45
HP:0012144	HP:0012144	Abnormal monocyte morphology	0	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia		38
HP:0012144	HP:0012144	Abnormal monocyte morphology	0	DDX41 CL E G H	51428	18674	OMIM:616871	Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to		23
HP:0012144	HP:0012144	Abnormal monocyte morphology	0	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia		79
HP:0012144	HP:0012144	Abnormal monocyte morphology	0	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant		79
HP:0012144	HP:0012144	Abnormal monocyte morphology	0	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive		37
HP:0012144	HP:0012144	Abnormal monocyte morphology	0	GATA2 CL E G H	2624	4171	OMIM:614172	Immunodeficiency 21		137
HP:0012144	HP:0012144	Abnormal monocyte morphology	0	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia		56
HP:0012144	HP:0012144	Abnormal monocyte morphology	0	GFI1 CL E G H	2672	4237	OMIM:613107	Neutropenia, severe congenital, 2, autosomal dominant		56
HP:0012144	HP:0012144	Abnormal monocyte morphology	0	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B		5
HP:0012144	HP:0012144	Abnormal monocyte morphology	0	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		196
HP:0012144	HP:0012144	Abnormal monocyte morphology	0	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		102
HP:0012144	HP:0012144	Abnormal monocyte morphology	0	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0012144	HP:0012144	Abnormal monocyte morphology	0	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0012144	HP:0012144	Abnormal monocyte morphology	0	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0012144	HP:0012144	Abnormal monocyte morphology	0	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia
HP:0012144	HP:0012144	Abnormal monocyte morphology	0	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia		82
HP:0012144	HP:0012144	Abnormal monocyte morphology	0	WAS CL E G H	7454	12731	OMIM:300299	Neutropenia, severe congenital, X-linked		65
HP:0012144	HP:0012144	Abnormal monocyte morphology	0	WAS CL E G H	7454	12731	ORPHA:86788	X-linked severe congenital neutropenia		65
HP:0012144	HP:0012144	Abnormal monocyte morphology	0	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0012144	HP:0012310	Abnormal monocyte count	1	CARD11 CL E G H	84433	16393	OMIM:615206	Card11 immunodeficiency		45
HP:0012144	HP:0012310	Abnormal monocyte count	1	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia		38
HP:0012144	HP:0012310	Abnormal monocyte count	1	DDX41 CL E G H	51428	18674	OMIM:616871	Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to		23
HP:0012144	HP:0012310	Abnormal monocyte count	1	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia		79
HP:0012144	HP:0012310	Abnormal monocyte count	1	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant		79
HP:0012144	HP:0012310	Abnormal monocyte count	1	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive		37
HP:0012144	HP:0012310	Abnormal monocyte count	1	GATA2 CL E G H	2624	4171	OMIM:614172	Immunodeficiency 21		137
HP:0012144	HP:0012310	Abnormal monocyte count	1	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia		56
HP:0012144	HP:0012310	Abnormal monocyte count	1	GFI1 CL E G H	2672	4237	OMIM:613107	Neutropenia, severe congenital, 2, autosomal dominant		56
HP:0012144	HP:0012310	Abnormal monocyte count	1	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B		5
HP:0012144	HP:0012310	Abnormal monocyte count	1	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		196
HP:0012144	HP:0012310	Abnormal monocyte count	1	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		102
HP:0012144	HP:0012310	Abnormal monocyte count	1	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0012144	HP:0012310	Abnormal monocyte count	1	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0012144	HP:0012310	Abnormal monocyte count	1	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0012144	HP:0012310	Abnormal monocyte count	1	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia
HP:0012144	HP:0012310	Abnormal monocyte count	1	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia		82
HP:0012144	HP:0012310	Abnormal monocyte count	1	WAS CL E G H	7454	12731	OMIM:300299	Neutropenia, severe congenital, X-linked		65
HP:0012144	HP:0012310	Abnormal monocyte count	1	WAS CL E G H	7454	12731	ORPHA:86788	X-linked severe congenital neutropenia		65
HP:0012144	HP:0012310	Abnormal monocyte count	1	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0012144	HP:0012312	Monocytopenia	2	CARD11 CL E G H	84433	16393	OMIM:615206	Card11 immunodeficiency		45
HP:0012144	HP:0012311	Monocytosis	2	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent	38
HP:0012144	HP:0012311	Monocytosis	2	DDX41 CL E G H	51428	18674	OMIM:616871	Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to		23
HP:0012144	HP:0012311	Monocytosis	2	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent	79
HP:0012144	HP:0012311	Monocytosis	2	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant	.	79
HP:0012144	HP:0012311	Monocytosis	2	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive	.	37
HP:0012144	HP:0012312	Monocytopenia	2	GATA2 CL E G H	2624	4171	OMIM:614172	Immunodeficiency 21	.	137
HP:0012144	HP:0012311	Monocytosis	2	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent	56
HP:0012144	HP:0012311	Monocytosis	2	GFI1 CL E G H	2672	4237	OMIM:613107	Neutropenia, severe congenital, 2, autosomal dominant	.	56
HP:0012144	HP:0012312	Monocytopenia	2	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B		5
HP:0012144	HP:0012311	Monocytosis	2	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic	.	196
HP:0012144	HP:0012311	Monocytosis	2	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic	.	102
HP:0012144	HP:0012311	Monocytosis	2	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0012144	HP:0012312	Monocytopenia	2	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0012144	HP:0012312	Monocytopenia	2	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0012144	HP:0012311	Monocytosis	2	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent
HP:0012144	HP:0012311	Monocytosis	2	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent	82
HP:0012144	HP:0012312	Monocytopenia	2	WAS CL E G H	7454	12731	OMIM:300299	Neutropenia, severe congenital, X-linked		65
HP:0012144	HP:0012312	Monocytopenia	2	WAS CL E G H	7454	12731	ORPHA:86788	X-linked severe congenital neutropenia	HP:0040281 - Very frequent	65
HP:0012144	HP:0012311	Monocytosis	2	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91

Genes (17) :CARD11 CLPB DDX41 ELANE G6PC3 GATA2 GFI1 IRF8 KRAS NRAS PIK3CD PIK3CG RAC2 SRP54 TCIRG1 WAS ZNFX1

Diseases (15) :OMIM:615206 ORPHA:486 OMIM:616871 OMIM:202700 OMIM:612541 OMIM:614172 OMIM:613107 OMIM:226990 OMIM:614470 OMIM:619281 OMIM:619802 OMIM:618986 OMIM:300299 ORPHA:86788 OMIM:619644

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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