Human Phenotype Ontology 
Grandparent Node:
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Abnormal oral cavity morphology (HP:0000163)help
Parent Node:
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Abnormal oral mucosa morphology (HP:0011830)help
..Starting node
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White lesion of the oral mucosa (HP:0025125)help
Term ID: 25125
Name: White lesion of the oral mucosa
Synonym:
Definition: White lesions of the oral mucosa are generally caused by a condition that increases the thickness of the epithelium. This increases the distance to the vascular bed and thereby tends to change the usual reddish color of the oral mucosa to white. Common causes include hyperkeratosis (thickening of the keratin layer), acanthosis (thickening of the spinous cell layer), increased edema in the epithelium (leukoedema), and reduced vascularity of the underlying lamina propria. Additionally, fibrin caps or surface ulcerations and collapsed bullae can appear white.
Comments:
Reference: HP:0025125
Genes and Diseases:
 
       Child Nodes:
........expandOral leukoplakia (HP:0002745) help
........expandOral hairy leukoplakia (HP:0025126) help

 Sister Nodes: 
..expandAbnormal pigmentation of the oral mucosa (HP:0100669) help
..expandAbnormality of the gingiva (HP:0000168) help
..expandEnanthema (HP:0030249) help
..expandErosion of oral mucosa (HP:0031446) help
..expandOral cavity telangiectasia (HP:0000228) help
..expandOral erythroplakia (HP:0030934) help
..expandOral lichenoid lesion (HP:0031453) help
..expandOral mucosa nodule (HP:0031445) help
..expandOral mucosal blisters (HP:0200097) help
..expandOral synechia (HP:0010285) help
..expandOral ulcer (HP:0000155) help
..expandStomatitis (HP:0010280) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0025125HP:0025125White lesion of the oral mucosa0ACD CL E G H6505725070OMIM:616553Dyskeratosis congenita, autosomal dominant 611
HP:0025125HP:0025125White lesion of the oral mucosa0ACD CL E G H6505725070ORPHA:3322Hoyeraal-Hreidarsson syndrome11
HP:0025125HP:0025125White lesion of the oral mucosa0CTC1 CL E G H8016926169OMIM:612199Cerebroretinal microangiopathy with calcifications and cysts160
HP:0025125HP:0025125White lesion of the oral mucosa0CTC1 CL E G H8016926169ORPHA:1775Dyskeratosis congenita160
HP:0025125HP:0025125White lesion of the oral mucosa0DKC1 CL E G H17362890ORPHA:1775Dyskeratosis congenita65
HP:0025125HP:0025125White lesion of the oral mucosa0DKC1 CL E G H17362890OMIM:305000Dyskeratosis congenita, X-linked65
HP:0025125HP:0025125White lesion of the oral mucosa0DKC1 CL E G H17362890ORPHA:3322Hoyeraal-Hreidarsson syndrome65
HP:0025125HP:0025125White lesion of the oral mucosa0FERMT1 CL E G H5561215889OMIM:173650Kindler syndrome136
HP:0025125HP:0025125White lesion of the oral mucosa0GJB2 CL E G H27064284OMIM:148210Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant199
HP:0025125HP:0025125White lesion of the oral mucosa0KRT16 CL E G H38686423ORPHA:2309Pachyonychia congenita27
HP:0025125HP:0025125White lesion of the oral mucosa0KRT16 CL E G H38686423OMIM:167200Pachyonychia congenita, type 127
HP:0025125HP:0025125White lesion of the oral mucosa0KRT17 CL E G H38726427ORPHA:2309Pachyonychia congenita23
HP:0025125HP:0025125White lesion of the oral mucosa0KRT4 CL E G H38516441OMIM:193900White sponge nevus 164
HP:0025125HP:0025125White lesion of the oral mucosa0KRT6A CL E G H38536443ORPHA:2309Pachyonychia congenita41
HP:0025125HP:0025125White lesion of the oral mucosa0KRT6A CL E G H38536443OMIM:615726Pachyonychia congenita 341
HP:0025125HP:0025125White lesion of the oral mucosa0KRT6B CL E G H38546444ORPHA:2309Pachyonychia congenita4
HP:0025125HP:0025125White lesion of the oral mucosa0KRT6C CL E G H28688720406OMIM:615735Palmoplantar keratoderma, nonepidermolytic, focal or diffuse4
HP:0025125HP:0025125White lesion of the oral mucosa0MEFV CL E G H42106998ORPHA:342Familial Mediterranean fever281
HP:0025125HP:0025125White lesion of the oral mucosa0NHP2 CL E G H5565114377ORPHA:1775Dyskeratosis congenita27
HP:0025125HP:0025125White lesion of the oral mucosa0NHP2 CL E G H5565114377OMIM:613987Dyskeratosis congenita, autosomal recessive, 227
HP:0025125HP:0025125White lesion of the oral mucosa0NOP10 CL E G H5550514378ORPHA:1775Dyskeratosis congenita17
HP:0025125HP:0025125White lesion of the oral mucosa0NPM1 CL E G H48697910ORPHA:1775Dyskeratosis congenita12
HP:0025125HP:0025125White lesion of the oral mucosa0PARN CL E G H50738609ORPHA:1775Dyskeratosis congenita26
HP:0025125HP:0025125White lesion of the oral mucosa0PARN CL E G H50738609OMIM:616353Dyskeratosis congenita, autosomal recessive 626
HP:0025125HP:0025125White lesion of the oral mucosa0PARN CL E G H50738609ORPHA:3322Hoyeraal-Hreidarsson syndrome26
HP:0025125HP:0025125White lesion of the oral mucosa0RHBDF2 CL E G H7965120788OMIM:148500Tylosis with esophageal cancer80
HP:0025125HP:0025125White lesion of the oral mucosa0RPA1 CL E G H611710289OMIM:619767PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0025125HP:0025125White lesion of the oral mucosa0RTEL1 CL E G H5175015888ORPHA:1775Dyskeratosis congenita77
HP:0025125HP:0025125White lesion of the oral mucosa0RTEL1 CL E G H5175015888ORPHA:3322Hoyeraal-Hreidarsson syndrome77
HP:0025125HP:0025125White lesion of the oral mucosa0TERC CL E G H701211727ORPHA:1775Dyskeratosis congenita48
HP:0025125HP:0025125White lesion of the oral mucosa0TERC CL E G H701211727OMIM:127550Dyskeratosis congenita, autosomal dominant, 148
HP:0025125HP:0025125White lesion of the oral mucosa0TERT CL E G H701511730ORPHA:1775Dyskeratosis congenita238
HP:0025125HP:0025125White lesion of the oral mucosa0TERT CL E G H701511730OMIM:613989Dyskeratosis congenita, autosomal dominant 2238
HP:0025125HP:0025125White lesion of the oral mucosa0TERT CL E G H701511730OMIM:127550Dyskeratosis congenita, autosomal dominant, 1238
HP:0025125HP:0025125White lesion of the oral mucosa0TERT CL E G H701511730ORPHA:3322Hoyeraal-Hreidarsson syndrome238
HP:0025125HP:0025125White lesion of the oral mucosa0TINF2 CL E G H2627711824ORPHA:1775Dyskeratosis congenita60
HP:0025125HP:0025125White lesion of the oral mucosa0TINF2 CL E G H2627711824OMIM:613990Dyskeratosis congenita, autosomal dominant 360
HP:0025125HP:0025125White lesion of the oral mucosa0TINF2 CL E G H2627711824OMIM:127550Dyskeratosis congenita, autosomal dominant, 160
HP:0025125HP:0025125White lesion of the oral mucosa0TINF2 CL E G H2627711824ORPHA:3322Hoyeraal-Hreidarsson syndrome60
HP:0025125HP:0025125White lesion of the oral mucosa0TINF2 CL E G H2627711824OMIM:268130Revesz syndrome60
HP:0025125HP:0025125White lesion of the oral mucosa0TYMS CL E G H729812441OMIM:6200401
HP:0025125HP:0025125White lesion of the oral mucosa0TYMS CL E G H729812441ORPHA:1775Dyskeratosis congenita1
HP:0025125HP:0025125White lesion of the oral mucosa0USB1 CL E G H7965025792ORPHA:1775Dyskeratosis congenita8
HP:0025125HP:0025125White lesion of the oral mucosa0WRAP53 CL E G H5513525522ORPHA:1775Dyskeratosis congenita40
HP:0025125HP:0025125White lesion of the oral mucosa0WRAP53 CL E G H5513525522OMIM:613988Dyskeratosis congenita, autosomal recessive, 340
HP:0025125HP:0025126Oral hairy leukoplakia1 CL E G H
HP:0025125HP:0002745Oral leukoplakia1ACD CL E G H6505725070OMIM:616553Dyskeratosis congenita, autosomal dominant 6.11
HP:0025125HP:0002745Oral leukoplakia1ACD CL E G H6505725070ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040282 - Frequent11
HP:0025125HP:0002745Oral leukoplakia1CTC1 CL E G H8016926169OMIM:612199Cerebroretinal microangiopathy with calcifications and cystsHP:0040283 - Occasional160
HP:0025125HP:0002745Oral leukoplakia1CTC1 CL E G H8016926169ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent160
HP:0025125HP:0002745Oral leukoplakia1DKC1 CL E G H17362890ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent65
HP:0025125HP:0002745Oral leukoplakia1DKC1 CL E G H17362890OMIM:305000Dyskeratosis congenita, X-linked.65
HP:0025125HP:0002745Oral leukoplakia1DKC1 CL E G H17362890ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040282 - Frequent65
HP:0025125HP:0002745Oral leukoplakia1FERMT1 CL E G H5561215889OMIM:173650Kindler syndrome136
HP:0025125HP:0002745Oral leukoplakia1GJB2 CL E G H27064284OMIM:148210Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant.199
HP:0025125HP:0002745Oral leukoplakia1KRT16 CL E G H38686423ORPHA:2309Pachyonychia congenitaHP:0040282 - Frequent27
HP:0025125HP:0002745Oral leukoplakia1KRT16 CL E G H38686423OMIM:167200Pachyonychia congenita, type 1.27
HP:0025125HP:0002745Oral leukoplakia1KRT17 CL E G H38726427ORPHA:2309Pachyonychia congenitaHP:0040282 - Frequent23
HP:0025125HP:0002745Oral leukoplakia1KRT4 CL E G H38516441OMIM:193900White sponge nevus 1.64
HP:0025125HP:0002745Oral leukoplakia1KRT6A CL E G H38536443ORPHA:2309Pachyonychia congenitaHP:0040282 - Frequent41
HP:0025125HP:0002745Oral leukoplakia1KRT6A CL E G H38536443OMIM:615726Pachyonychia congenita 3.41
HP:0025125HP:0002745Oral leukoplakia1KRT6B CL E G H38546444ORPHA:2309Pachyonychia congenitaHP:0040282 - Frequent4
HP:0025125HP:0002745Oral leukoplakia1KRT6C CL E G H28688720406OMIM:615735Palmoplantar keratoderma, nonepidermolytic, focal or diffuse4
HP:0025125HP:0002745Oral leukoplakia1MEFV CL E G H42106998ORPHA:342Familial Mediterranean feverHP:0040282 - Frequent281
HP:0025125HP:0002745Oral leukoplakia1NHP2 CL E G H5565114377ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent27
HP:0025125HP:0002745Oral leukoplakia1NHP2 CL E G H5565114377OMIM:613987Dyskeratosis congenita, autosomal recessive, 227
HP:0025125HP:0002745Oral leukoplakia1NOP10 CL E G H5550514378ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent17
HP:0025125HP:0002745Oral leukoplakia1NPM1 CL E G H48697910ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent12
HP:0025125HP:0002745Oral leukoplakia1PARN CL E G H50738609ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent26
HP:0025125HP:0002745Oral leukoplakia1PARN CL E G H50738609OMIM:616353Dyskeratosis congenita, autosomal recessive 626
HP:0025125HP:0002745Oral leukoplakia1PARN CL E G H50738609ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040282 - Frequent26
HP:0025125HP:0002745Oral leukoplakia1RHBDF2 CL E G H7965120788OMIM:148500Tylosis with esophageal cancer80
HP:0025125HP:0002745Oral leukoplakia1RPA1 CL E G H611710289OMIM:619767PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0025125HP:0002745Oral leukoplakia1RTEL1 CL E G H5175015888ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent77
HP:0025125HP:0002745Oral leukoplakia1RTEL1 CL E G H5175015888ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040282 - Frequent77
HP:0025125HP:0002745Oral leukoplakia1TERC CL E G H701211727ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent48
HP:0025125HP:0002745Oral leukoplakia1TERC CL E G H701211727OMIM:127550Dyskeratosis congenita, autosomal dominant, 1.48
HP:0025125HP:0002745Oral leukoplakia1TERT CL E G H701511730ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent238
HP:0025125HP:0002745Oral leukoplakia1TERT CL E G H701511730OMIM:613989Dyskeratosis congenita, autosomal dominant 2238
HP:0025125HP:0002745Oral leukoplakia1TERT CL E G H701511730OMIM:127550Dyskeratosis congenita, autosomal dominant, 1.238
HP:0025125HP:0002745Oral leukoplakia1TERT CL E G H701511730ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040282 - Frequent238
HP:0025125HP:0002745Oral leukoplakia1TINF2 CL E G H2627711824ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent60
HP:0025125HP:0002745Oral leukoplakia1TINF2 CL E G H2627711824OMIM:613990Dyskeratosis congenita, autosomal dominant 3.60
HP:0025125HP:0002745Oral leukoplakia1TINF2 CL E G H2627711824OMIM:127550Dyskeratosis congenita, autosomal dominant, 1.60
HP:0025125HP:0002745Oral leukoplakia1TINF2 CL E G H2627711824ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040282 - Frequent60
HP:0025125HP:0002745Oral leukoplakia1TINF2 CL E G H2627711824OMIM:268130Revesz syndrome.60
HP:0025125HP:0002745Oral leukoplakia1TYMS CL E G H729812441OMIM:6200401
HP:0025125HP:0002745Oral leukoplakia1TYMS CL E G H729812441ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent1
HP:0025125HP:0002745Oral leukoplakia1USB1 CL E G H7965025792ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent8
HP:0025125HP:0002745Oral leukoplakia1WRAP53 CL E G H5513525522ORPHA:1775Dyskeratosis congenitaHP:0040281 - Very frequent40
HP:0025125HP:0002745Oral leukoplakia1WRAP53 CL E G H5513525522OMIM:613988Dyskeratosis congenita, autosomal recessive, 340


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.