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:
Abnormality of immune system physiology (HP:0010978)

Parent Node:
Abnormal lymphocyte physiology (HP:0031409)

..Starting node
..Abnormal natural killer cell physiology (HP:0012177)

Term ID:

12177

Name:

Abnormal natural killer cell physiology

Synonym:

Definition:

A functional anomaly of the natural killer cell.

Comments:

Reference:

HP:0012177

Genes and Diseases:

Child Nodes:

........

Reduced natural killer cell activity (HP:0012178)

Sister Nodes:

Abnormal lymphocyte apoptosis (HP:0030886)

Abnormal lymphocyte proliferation (HP:0031378)

Abnormality of T cell physiology (HP:0011840)

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:0012177	HP:0012177	Abnormal natural killer cell physiology	0	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0012177	HP:0012177	Abnormal natural killer cell physiology	0	FCGR3A CL E G H	2214	3619	OMIM:615707	Immunodeficiency 20		4
HP:0012177	HP:0012177	Abnormal natural killer cell physiology	0	IKBKG CL E G H	8517	5961	OMIM:300291	ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID1		52
HP:0012177	HP:0012177	Abnormal natural killer cell physiology	0	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked		48
HP:0012177	HP:0012177	Abnormal natural killer cell physiology	0	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0012177	HP:0012177	Abnormal natural killer cell physiology	0	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC		30
HP:0012177	HP:0012177	Abnormal natural killer cell physiology	0	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0012177	HP:0012177	Abnormal natural killer cell physiology	0	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		58
HP:0012177	HP:0012177	Abnormal natural killer cell physiology	0	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2		58
HP:0012177	HP:0012177	Abnormal natural killer cell physiology	0	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0012177	HP:0012177	Abnormal natural killer cell physiology	0	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		37
HP:0012177	HP:0012177	Abnormal natural killer cell physiology	0	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		85
HP:0012177	HP:0012177	Abnormal natural killer cell physiology	0	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		70
HP:0012177	HP:0012177	Abnormal natural killer cell physiology	0	STXBP2 CL E G H	6813	11445	OMIM:613101	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5		70
HP:0012177	HP:0012177	Abnormal natural killer cell physiology	0	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		116
HP:0012177	HP:0012177	Abnormal natural killer cell physiology	0	UNC13D CL E G H	201294	23147	OMIM:608898	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3		116
HP:0012177	HP:0012177	Abnormal natural killer cell physiology	0	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0012177	HP:0012177	Abnormal natural killer cell physiology	0	WIPF1 CL E G H	7456	12736	OMIM:614493	WISKOTT-ALDRICH SYNDROME 2; WAS2		6
HP:0012177	HP:0012177	Abnormal natural killer cell physiology	0	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		81
HP:0012177	HP:0012178	Reduced natural killer cell activity	1	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0012177	HP:0012178	Reduced natural killer cell activity	1	FCGR3A CL E G H	2214	3619	OMIM:615707	Immunodeficiency 20		4
HP:0012177	HP:0012178	Reduced natural killer cell activity	1	IKBKG CL E G H	8517	5961	OMIM:300291	ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID1		52
HP:0012177	HP:0012178	Reduced natural killer cell activity	1	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked		48
HP:0012177	HP:0012178	Reduced natural killer cell activity	1	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0012177	HP:0012178	Reduced natural killer cell activity	1	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC		30
HP:0012177	HP:0012178	Reduced natural killer cell activity	1	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0012177	HP:0012178	Reduced natural killer cell activity	1	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	58
HP:0012177	HP:0012178	Reduced natural killer cell activity	1	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2		58
HP:0012177	HP:0012178	Reduced natural killer cell activity	1	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0012177	HP:0012178	Reduced natural killer cell activity	1	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1	.	37
HP:0012177	HP:0012178	Reduced natural killer cell activity	1	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	85
HP:0012177	HP:0012178	Reduced natural killer cell activity	1	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	70
HP:0012177	HP:0012178	Reduced natural killer cell activity	1	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	116
HP:0012177	HP:0012178	Reduced natural killer cell activity	1	UNC13D CL E G H	201294	23147	OMIM:608898	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3		116
HP:0012177	HP:0012178	Reduced natural killer cell activity	1	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0012177	HP:0012178	Reduced natural killer cell activity	1	WIPF1 CL E G H	7456	12736	OMIM:614493	WISKOTT-ALDRICH SYNDROME 2; WAS2		6
HP:0012177	HP:0012178	Reduced natural killer cell activity	1	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1	.	81

Genes (16) :AP3B1 FCGR3A IKBKG IL2RG LCP2 NLRC4 PIK3CD PRF1 PRKCD SH2D1A STX11 STXBP2 UNC13D WAS WIPF1 XIAP

Diseases (15) :OMIM:608233 OMIM:615707 OMIM:300291 OMIM:300400 OMIM:619374 OMIM:616050 OMIM:619281 ORPHA:540 OMIM:603553 OMIM:615559 OMIM:308240 OMIM:613101 OMIM:608898 OMIM:301000 OMIM:614493

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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