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

..Starting node
..Neuralgia (HP:0033345)

Term ID:

33345

Name:

Neuralgia

Synonym:

Definition:

Pain (An unpleasant sensory and emotional experience) along the course of a nerve.

Comments:

Reference:

HP:0033345

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:0033345	HP:0033345	Neuralgia	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma		54
HP:0033345	HP:0033345	Neuralgia	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma		184
HP:0033345	HP:0033345	Neuralgia	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma		220
HP:0033345	HP:0033345	Neuralgia	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma		9
HP:0033345	HP:0033345	Neuralgia	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma		162
HP:0033345	HP:0033345	Neuralgia	0	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease		69
HP:0033345	HP:0033345	Neuralgia	0	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C		493
HP:0033345	HP:0033345	Neuralgia	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma		87
HP:0033345	HP:0033345	Neuralgia	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma		47
HP:0033345	HP:0033345	Neuralgia	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma		22
HP:0033345	HP:0033345	Neuralgia	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma		124
HP:0033345	HP:0033345	Neuralgia	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma		238
HP:0033345	HP:0033345	Neuralgia	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0033345	HP:0012318	Occipital neuralgia	1	CL E G H
HP:0033345	HP:0100661	Trigeminal neuralgia	1	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040283 - Occasional	54
HP:0033345	HP:0100661	Trigeminal neuralgia	1	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040283 - Occasional	184
HP:0033345	HP:0100661	Trigeminal neuralgia	1	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040283 - Occasional	220
HP:0033345	HP:0100661	Trigeminal neuralgia	1	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040283 - Occasional	9
HP:0033345	HP:0100661	Trigeminal neuralgia	1	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040283 - Occasional	162
HP:0033345	HP:0100661	Trigeminal neuralgia	1	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease	HP:0040283 - Occasional	69
HP:0033345	HP:0100661	Trigeminal neuralgia	1	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C	HP:0040284 - Very rare	493
HP:0033345	HP:0100661	Trigeminal neuralgia	1	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040283 - Occasional	87
HP:0033345	HP:0100661	Trigeminal neuralgia	1	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040283 - Occasional	47
HP:0033345	HP:0100661	Trigeminal neuralgia	1	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040283 - Occasional	22
HP:0033345	HP:0100661	Trigeminal neuralgia	1	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040283 - Occasional	124
HP:0033345	HP:0100661	Trigeminal neuralgia	1	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040283 - Occasional	238
HP:0033345	HP:0100661	Trigeminal neuralgia	1	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040283 - Occasional

Genes (13) :AKT1 BAP1 NF2 PDGFB PIK3CA PRNP SH3TC2 SMARCB1 SMARCE1 SMO SUFU TERT TRAF7

Diseases (3) :ORPHA:2495 ORPHA:282166 ORPHA:99949

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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