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 oral mucosa morphology (HP:0011830)

Parent Node:
White lesion of the oral mucosa (HP:0025125)

..Starting node
..Oral leukoplakia (HP:0002745)

Term ID:

2745

Name:

Oral leukoplakia

Synonym:

leukokeratosis; Oral idiopathic keratosis; Oral idiopathic leukoplakia; Oral idiopathic white patch; Oral leucoplakia; Oral leukokeratosis; Oral leukoplasia; Oral white patch; Oral white plaque

Definition:

A thickened white patch on the oral mucosa that cannot be rubbed off.

Comments:

Reference:

HP:0002745

Genes and Diseases:

Child Nodes:

Sister Nodes:

Oral hairy leukoplakia (HP:0025126)

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:0002745	HP:0002745	Oral leukoplakia	0	ACD CL E G H	65057	25070	OMIM:616553	Dyskeratosis congenita, autosomal dominant 6	.	11
HP:0002745	HP:0002745	Oral leukoplakia	0	ACD CL E G H	65057	25070	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent	11
HP:0002745	HP:0002745	Oral leukoplakia	0	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts	HP:0040283 - Occasional	160
HP:0002745	HP:0002745	Oral leukoplakia	0	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent	160
HP:0002745	HP:0002745	Oral leukoplakia	0	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent	65
HP:0002745	HP:0002745	Oral leukoplakia	0	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked	.	65
HP:0002745	HP:0002745	Oral leukoplakia	0	DKC1 CL E G H	1736	2890	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent	65
HP:0002745	HP:0002745	Oral leukoplakia	0	FERMT1 CL E G H	55612	15889	OMIM:173650	Kindler syndrome		136
HP:0002745	HP:0002745	Oral leukoplakia	0	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant	.	199
HP:0002745	HP:0002745	Oral leukoplakia	0	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita	HP:0040282 - Frequent	27
HP:0002745	HP:0002745	Oral leukoplakia	0	KRT16 CL E G H	3868	6423	OMIM:167200	Pachyonychia congenita, type 1	.	27
HP:0002745	HP:0002745	Oral leukoplakia	0	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita	HP:0040282 - Frequent	23
HP:0002745	HP:0002745	Oral leukoplakia	0	KRT4 CL E G H	3851	6441	OMIM:193900	White sponge nevus 1	.	64
HP:0002745	HP:0002745	Oral leukoplakia	0	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita	HP:0040282 - Frequent	41
HP:0002745	HP:0002745	Oral leukoplakia	0	KRT6A CL E G H	3853	6443	OMIM:615726	Pachyonychia congenita 3	.	41
HP:0002745	HP:0002745	Oral leukoplakia	0	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita	HP:0040282 - Frequent	4
HP:0002745	HP:0002745	Oral leukoplakia	0	KRT6C CL E G H	286887	20406	OMIM:615735	Palmoplantar keratoderma, nonepidermolytic, focal or diffuse		4
HP:0002745	HP:0002745	Oral leukoplakia	0	MEFV CL E G H	4210	6998	ORPHA:342	Familial Mediterranean fever	HP:0040282 - Frequent	281
HP:0002745	HP:0002745	Oral leukoplakia	0	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent	27
HP:0002745	HP:0002745	Oral leukoplakia	0	NHP2 CL E G H	55651	14377	OMIM:613987	Dyskeratosis congenita, autosomal recessive, 2		27
HP:0002745	HP:0002745	Oral leukoplakia	0	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent	17
HP:0002745	HP:0002745	Oral leukoplakia	0	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent	12
HP:0002745	HP:0002745	Oral leukoplakia	0	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent	26
HP:0002745	HP:0002745	Oral leukoplakia	0	PARN CL E G H	5073	8609	OMIM:616353	Dyskeratosis congenita, autosomal recessive 6		26
HP:0002745	HP:0002745	Oral leukoplakia	0	PARN CL E G H	5073	8609	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent	26
HP:0002745	HP:0002745	Oral leukoplakia	0	RHBDF2 CL E G H	79651	20788	OMIM:148500	Tylosis with esophageal cancer		80
HP:0002745	HP:0002745	Oral leukoplakia	0	RPA1 CL E G H	6117	10289	OMIM:619767	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0002745	HP:0002745	Oral leukoplakia	0	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent	77
HP:0002745	HP:0002745	Oral leukoplakia	0	RTEL1 CL E G H	51750	15888	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent	77
HP:0002745	HP:0002745	Oral leukoplakia	0	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent	48
HP:0002745	HP:0002745	Oral leukoplakia	0	TERC CL E G H	7012	11727	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.	48
HP:0002745	HP:0002745	Oral leukoplakia	0	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent	238
HP:0002745	HP:0002745	Oral leukoplakia	0	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2		238
HP:0002745	HP:0002745	Oral leukoplakia	0	TERT CL E G H	7015	11730	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.	238
HP:0002745	HP:0002745	Oral leukoplakia	0	TERT CL E G H	7015	11730	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent	238
HP:0002745	HP:0002745	Oral leukoplakia	0	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent	60
HP:0002745	HP:0002745	Oral leukoplakia	0	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3	.	60
HP:0002745	HP:0002745	Oral leukoplakia	0	TINF2 CL E G H	26277	11824	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.	60
HP:0002745	HP:0002745	Oral leukoplakia	0	TINF2 CL E G H	26277	11824	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent	60
HP:0002745	HP:0002745	Oral leukoplakia	0	TINF2 CL E G H	26277	11824	OMIM:268130	Revesz syndrome	.	60
HP:0002745	HP:0002745	Oral leukoplakia	0	TYMS CL E G H	7298	12441	OMIM:620040			1
HP:0002745	HP:0002745	Oral leukoplakia	0	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent	1
HP:0002745	HP:0002745	Oral leukoplakia	0	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent	8
HP:0002745	HP:0002745	Oral leukoplakia	0	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040281 - Very frequent	40
HP:0002745	HP:0002745	Oral leukoplakia	0	WRAP53 CL E G H	55135	25522	OMIM:613988	Dyskeratosis congenita, autosomal recessive, 3		40

Genes (25) :ACD CTC1 DKC1 FERMT1 GJB2 KRT16 KRT17 KRT4 KRT6A KRT6B KRT6C MEFV NHP2 NOP10 NPM1 PARN RHBDF2 RPA1 RTEL1 TERC TERT TINF2 TYMS USB1 WRAP53

Diseases (23) :OMIM:616553 ORPHA:3322 OMIM:612199 ORPHA:1775 OMIM:305000 OMIM:173650 OMIM:148210 ORPHA:2309 OMIM:167200 OMIM:193900 OMIM:615726 OMIM:615735 ORPHA:342 OMIM:613987 OMIM:616353 OMIM:148500 OMIM:619767 OMIM:127550 OMIM:613989 OMIM:613990 OMIM:268130 OMIM:620040 OMIM:613988

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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