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 myeloid leukocyte morphology (HP:0010974)

Parent Node:
Abnormal macrophage morphology (HP:0004311)

..Starting node
..Hemophagocytosis (HP:0012156)

Term ID:

12156

Name:

Hemophagocytosis

Synonym:

Definition:

Phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors in bone marrow and other tissues.

Comments:

Reference:

HP:0012156

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal macrophage count (HP:0030326)

Bone-marrow foam cells (HP:0004333)

Granulomatosis (HP:0002955)

Histiocytosis (HP:0100727)

Sea-blue histiocytosis (HP:0001982)

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:0012156	HP:0012156	Hemophagocytosis	0	CD27 CL E G H	939	11922	OMIM:615122	Lymphoproliferative syndrome 2		4
HP:0012156	HP:0012156	Hemophagocytosis	0	DNASE2 CL E G H	1777	2960	OMIM:619858
HP:0012156	HP:0012156	Hemophagocytosis	0	HAVCR2 CL E G H	84868	18437	ORPHA:86884	Subcutaneous panniculitis-like T-cell lymphoma	HP:0040282 - Frequent
HP:0012156	HP:0012156	Hemophagocytosis	0	HAVCR2 CL E G H	84868	18437	OMIM:618398	T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE	HP:0040284 - Very rare
HP:0012156	HP:0012156	Hemophagocytosis	0	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040281 - Very frequent	239
HP:0012156	HP:0012156	Hemophagocytosis	0	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome		239
HP:0012156	HP:0012156	Hemophagocytosis	0	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0012156	HP:0012156	Hemophagocytosis	0	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040281 - Very frequent	58
HP:0012156	HP:0012156	Hemophagocytosis	0	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2		58
HP:0012156	HP:0012156	Hemophagocytosis	0	RAB27A CL E G H	5873	9766	ORPHA:79477	Griscelli syndrome type 2	HP:0040281 - Very frequent	67
HP:0012156	HP:0012156	Hemophagocytosis	0	RAB27A CL E G H	5873	9766	OMIM:607624	Griscelli syndrome, type 2		67
HP:0012156	HP:0012156	Hemophagocytosis	0	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		37
HP:0012156	HP:0012156	Hemophagocytosis	0	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance	.	104
HP:0012156	HP:0012156	Hemophagocytosis	0	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040282 - Frequent	104
HP:0012156	HP:0012156	Hemophagocytosis	0	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040281 - Very frequent	85
HP:0012156	HP:0012156	Hemophagocytosis	0	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4		85
HP:0012156	HP:0012156	Hemophagocytosis	0	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040281 - Very frequent	70
HP:0012156	HP:0012156	Hemophagocytosis	0	STXBP2 CL E G H	6813	11445	OMIM:613101	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5		70
HP:0012156	HP:0012156	Hemophagocytosis	0	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0012156	HP:0012156	Hemophagocytosis	0	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040281 - Very frequent	116
HP:0012156	HP:0012156	Hemophagocytosis	0	UNC13D CL E G H	201294	23147	OMIM:608898	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3		116
HP:0012156	HP:0012156	Hemophagocytosis	0	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		81
HP:0012156	HP:0012156	Hemophagocytosis	0	XIAP CL E G H	331	592	OMIM:300635	Lymphoproliferative syndrome, X-linked, 2		81
HP:0012156	HP:0012156	Hemophagocytosis	0	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91

Genes (15) :CD27 DNASE2 HAVCR2 LYST PIK3CG PRF1 RAB27A SH2D1A SLC7A7 STX11 STXBP2 TLR8 UNC13D XIAP ZNFX1

Diseases (20) :OMIM:615122 OMIM:619858 ORPHA:86884 OMIM:618398 ORPHA:167 OMIM:214500 OMIM:619802 ORPHA:540 OMIM:603553 ORPHA:79477 OMIM:607624 OMIM:308240 OMIM:222700 ORPHA:470 OMIM:603552 OMIM:613101 OMIM:301078 OMIM:608898 OMIM:300635 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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