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

..Starting node
..Pain in head and neck region (HP:0046506)

Term ID:

46506

Name:

Pain in head and neck region

Synonym:

Definition:

Comments:

Reference:

HP:0046506

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0046506	HP:0046506	Pain in head and neck region	0	AGBL1 CL E G H	123624	26504	ORPHA:98974	Fuchs endothelial corneal dystrophy		3
HP:0046506	HP:0046506	Pain in head and neck region	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma		54
HP:0046506	HP:0046506	Pain in head and neck region	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma		184
HP:0046506	HP:0046506	Pain in head and neck region	0	BAP1 CL E G H	8314	950	ORPHA:39044	Uveal melanoma		184
HP:0046506	HP:0046506	Pain in head and neck region	0	CHST6 CL E G H	4166	6938	ORPHA:98969	Macular corneal dystrophy		129
HP:0046506	HP:0046506	Pain in head and neck region	0	COL17A1 CL E G H	1308	2194	ORPHA:293381	Epithelial recurrent erosion dystrophy		129
HP:0046506	HP:0046506	Pain in head and neck region	0	COL8A2 CL E G H	1296	2216	ORPHA:98974	Fuchs endothelial corneal dystrophy		3
HP:0046506	HP:0046506	Pain in head and neck region	0	COL8A2 CL E G H	1296	2216	ORPHA:98973	Posterior polymorphous corneal dystrophy		3
HP:0046506	HP:0046506	Pain in head and neck region	0	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis		178
HP:0046506	HP:0046506	Pain in head and neck region	0	CYSLTR2 CL E G H	57105	18274	ORPHA:39044	Uveal melanoma		1
HP:0046506	HP:0046506	Pain in head and neck region	0	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I
HP:0046506	HP:0046506	Pain in head and neck region	0	GNA11 CL E G H	2767	4379	ORPHA:39044	Uveal melanoma		16
HP:0046506	HP:0046506	Pain in head and neck region	0	GNAQ CL E G H	2776	4390	ORPHA:39044	Uveal melanoma		7
HP:0046506	HP:0046506	Pain in head and neck region	0	GRHL2 CL E G H	79977	2799	ORPHA:98973	Posterior polymorphous corneal dystrophy		33
HP:0046506	HP:0046506	Pain in head and neck region	0	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria		81
HP:0046506	HP:0046506	Pain in head and neck region	0	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy		34
HP:0046506	HP:0046506	Pain in head and neck region	0	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita		27
HP:0046506	HP:0046506	Pain in head and neck region	0	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita		23
HP:0046506	HP:0046506	Pain in head and neck region	0	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita		41
HP:0046506	HP:0046506	Pain in head and neck region	0	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita		4
HP:0046506	HP:0046506	Pain in head and neck region	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma		220
HP:0046506	HP:0046506	Pain in head and neck region	0	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4		97
HP:0046506	HP:0046506	Pain in head and neck region	0	OVOL2 CL E G H	58495	15804	ORPHA:98973	Posterior polymorphous corneal dystrophy		4
HP:0046506	HP:0046506	Pain in head and neck region	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma		9
HP:0046506	HP:0046506	Pain in head and neck region	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma		162
HP:0046506	HP:0046506	Pain in head and neck region	0	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome		88
HP:0046506	HP:0046506	Pain in head and neck region	0	SCN9A CL E G H	6335	10597	OMIM:167400	Paroxysmal extreme pain disorder		318
HP:0046506	HP:0046506	Pain in head and neck region	0	SF3B1 CL E G H	23451	10768	ORPHA:39044	Uveal melanoma		19
HP:0046506	HP:0046506	Pain in head and neck region	0	SLC39A14 CL E G H	23516	20858	OMIM:144755	Hyperostosis cranialis interna		5
HP:0046506	HP:0046506	Pain in head and neck region	0	SLC4A11 CL E G H	83959	16438	ORPHA:98974	Fuchs endothelial corneal dystrophy		66
HP:0046506	HP:0046506	Pain in head and neck region	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma		87
HP:0046506	HP:0046506	Pain in head and neck region	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma		47
HP:0046506	HP:0046506	Pain in head and neck region	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma		22
HP:0046506	HP:0046506	Pain in head and neck region	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma		124
HP:0046506	HP:0046506	Pain in head and neck region	0	TCF4 CL E G H	6925	11634	ORPHA:98974	Fuchs endothelial corneal dystrophy		241
HP:0046506	HP:0046506	Pain in head and neck region	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma		238
HP:0046506	HP:0046506	Pain in head and neck region	0	TGFBI CL E G H	7045	11771	ORPHA:98962	Granular corneal dystrophy type I		58
HP:0046506	HP:0046506	Pain in head and neck region	0	TGFBI CL E G H	7045	11771	ORPHA:98964	Lattice corneal dystrophy type I		58
HP:0046506	HP:0046506	Pain in head and neck region	0	TGFBI CL E G H	7045	11771	ORPHA:98960	Thiel-Behnke corneal dystrophy		58
HP:0046506	HP:0046506	Pain in head and neck region	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0046506	HP:0046506	Pain in head and neck region	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0046506	HP:0046506	Pain in head and neck region	0	VSX1 CL E G H	30813	12723	ORPHA:98973	Posterior polymorphous corneal dystrophy		47
HP:0046506	HP:0046506	Pain in head and neck region	0	ZEB1 CL E G H	6935	11642	ORPHA:98974	Fuchs endothelial corneal dystrophy		8
HP:0046506	HP:0046506	Pain in head and neck region	0	ZEB1 CL E G H	6935	11642	ORPHA:98973	Posterior polymorphous corneal dystrophy		8
HP:0046506	HP:0200026	Ocular pain	1	AGBL1 CL E G H	123624	26504	ORPHA:98974	Fuchs endothelial corneal dystrophy		3
HP:0046506	HP:0030766	Ear pain	1	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040284 - Very rare	54
HP:0046506	HP:0030766	Ear pain	1	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040284 - Very rare	184
HP:0046506	HP:0200026	Ocular pain	1	BAP1 CL E G H	8314	950	ORPHA:39044	Uveal melanoma	HP:0040284 - Very rare	184
HP:0046506	HP:0200026	Ocular pain	1	CHST6 CL E G H	4166	6938	ORPHA:98969	Macular corneal dystrophy	HP:0040283 - Occasional	129
HP:0046506	HP:0200026	Ocular pain	1	COL17A1 CL E G H	1308	2194	ORPHA:293381	Epithelial recurrent erosion dystrophy	HP:0040281 - Very frequent	129
HP:0046506	HP:0200026	Ocular pain	1	COL8A2 CL E G H	1296	2216	ORPHA:98974	Fuchs endothelial corneal dystrophy		3
HP:0046506	HP:0200026	Ocular pain	1	COL8A2 CL E G H	1296	2216	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040284 - Very rare	3
HP:0046506	HP:0200026	Ocular pain	1	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis	HP:0040282 - Frequent	178
HP:0046506	HP:0200026	Ocular pain	1	CYSLTR2 CL E G H	57105	18274	ORPHA:39044	Uveal melanoma	HP:0040284 - Very rare	1
HP:0046506	HP:0030833	Neck pain	1	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I	HP:0040281 - Very frequent
HP:0046506	HP:0200026	Ocular pain	1	GNA11 CL E G H	2767	4379	ORPHA:39044	Uveal melanoma	HP:0040284 - Very rare	16
HP:0046506	HP:0200026	Ocular pain	1	GNAQ CL E G H	2776	4390	ORPHA:39044	Uveal melanoma	HP:0040284 - Very rare	7
HP:0046506	HP:0200026	Ocular pain	1	GRHL2 CL E G H	79977	2799	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040284 - Very rare	33
HP:0046506	HP:0030833	Neck pain	1	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria	HP:0040282 - Frequent	81
HP:0046506	HP:0030833	Neck pain	1	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy		34
HP:0046506	HP:0030766	Ear pain	1	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita	HP:0040283 - Occasional	27
HP:0046506	HP:0030766	Ear pain	1	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita	HP:0040283 - Occasional	23
HP:0046506	HP:0030766	Ear pain	1	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita	HP:0040283 - Occasional	41
HP:0046506	HP:0030766	Ear pain	1	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita	HP:0040283 - Occasional	4
HP:0046506	HP:0030766	Ear pain	1	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040284 - Very rare	220
HP:0046506	HP:0030811	Tongue pain	1	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4	HP:0040283 - Occasional	97
HP:0046506	HP:0200026	Ocular pain	1	OVOL2 CL E G H	58495	15804	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040284 - Very rare	4
HP:0046506	HP:0030766	Ear pain	1	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040284 - Very rare	9
HP:0046506	HP:0030766	Ear pain	1	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040284 - Very rare	162
HP:0046506	HP:0030833	Neck pain	1	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome	HP:0040283 - Occasional	88
HP:0046506	HP:0200026	Ocular pain	1	SCN9A CL E G H	6335	10597	OMIM:167400	Paroxysmal extreme pain disorder	.	318
HP:0046506	HP:0200026	Ocular pain	1	SF3B1 CL E G H	23451	10768	ORPHA:39044	Uveal melanoma	HP:0040284 - Very rare	19
HP:0046506	HP:0200026	Ocular pain	1	SLC39A14 CL E G H	23516	20858	OMIM:144755	Hyperostosis cranialis interna	HP:0040284 - Very rare	5
HP:0046506	HP:0200026	Ocular pain	1	SLC4A11 CL E G H	83959	16438	ORPHA:98974	Fuchs endothelial corneal dystrophy		66
HP:0046506	HP:0030766	Ear pain	1	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040284 - Very rare	87
HP:0046506	HP:0030766	Ear pain	1	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040284 - Very rare	47
HP:0046506	HP:0030766	Ear pain	1	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040284 - Very rare	22
HP:0046506	HP:0030766	Ear pain	1	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040284 - Very rare	124
HP:0046506	HP:0200026	Ocular pain	1	TCF4 CL E G H	6925	11634	ORPHA:98974	Fuchs endothelial corneal dystrophy		241
HP:0046506	HP:0030766	Ear pain	1	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040284 - Very rare	238
HP:0046506	HP:0200026	Ocular pain	1	TGFBI CL E G H	7045	11771	ORPHA:98962	Granular corneal dystrophy type I		58
HP:0046506	HP:0200026	Ocular pain	1	TGFBI CL E G H	7045	11771	ORPHA:98964	Lattice corneal dystrophy type I	HP:0040282 - Frequent	58
HP:0046506	HP:0200026	Ocular pain	1	TGFBI CL E G H	7045	11771	ORPHA:98960	Thiel-Behnke corneal dystrophy	HP:0040282 - Frequent	58
HP:0046506	HP:0030833	Neck pain	1	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0046506	HP:0030766	Ear pain	1	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040284 - Very rare
HP:0046506	HP:0200026	Ocular pain	1	VSX1 CL E G H	30813	12723	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040284 - Very rare	47
HP:0046506	HP:0200026	Ocular pain	1	ZEB1 CL E G H	6935	11642	ORPHA:98974	Fuchs endothelial corneal dystrophy		8
HP:0046506	HP:0200026	Ocular pain	1	ZEB1 CL E G H	6935	11642	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040284 - Very rare	8
HP:0046506	HP:0030857	Eye movement-induced pain	2	AGBL1 CL E G H	123624	26504	ORPHA:98974	Fuchs endothelial corneal dystrophy		3
HP:0046506	HP:0030857	Eye movement-induced pain	2	COL8A2 CL E G H	1296	2216	ORPHA:98974	Fuchs endothelial corneal dystrophy		3
HP:0046506	HP:0030857	Eye movement-induced pain	2	SLC4A11 CL E G H	83959	16438	ORPHA:98974	Fuchs endothelial corneal dystrophy		66
HP:0046506	HP:0030857	Eye movement-induced pain	2	TCF4 CL E G H	6925	11634	ORPHA:98974	Fuchs endothelial corneal dystrophy		241
HP:0046506	HP:0030857	Eye movement-induced pain	2	ZEB1 CL E G H	6935	11642	ORPHA:98974	Fuchs endothelial corneal dystrophy		8

Genes (39) :AGBL1 AKT1 BAP1 CHST6 COL17A1 COL8A2 CTNS CYSLTR2 DKK1 GNA11 GNAQ GRHL2 HMBS HTRA1 KRT16 KRT17 KRT6A KRT6B NF2 NTRK1 OVOL2 PDGFB PIK3CA RASA1 SCN9A SF3B1 SLC39A14 SLC4A11 SMARCB1 SMARCE1 SMO SUFU TCF4 TERT TGFBI TONSL TRAF7 VSX1 ZEB1

Diseases (19) :ORPHA:98974 ORPHA:2495 ORPHA:39044 ORPHA:98969 ORPHA:293381 ORPHA:98973 ORPHA:411634 ORPHA:268882 ORPHA:79276 ORPHA:199354 ORPHA:2309 ORPHA:642 ORPHA:90307 OMIM:167400 OMIM:144755 ORPHA:98962 ORPHA:98964 ORPHA:98960 ORPHA:93357

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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