Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0025125 | HP:0025125 | White lesion of the oral mucosa | 0 | ACD CL E G H | 65057 | 25070 | OMIM:616553 | Dyskeratosis congenita, autosomal dominant 6 | | | | 11 | | |
HP:0025125 | HP:0025125 | White lesion of the oral mucosa | 0 | ACD CL E G H | 65057 | 25070 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | | | | 11 | | |
HP:0025125 | HP:0025125 | White lesion of the oral mucosa | 0 | CTC1 CL E G H | 80169 | 26169 | OMIM:612199 | Cerebroretinal microangiopathy with calcifications and cysts | | | | 160 | | |
HP:0025125 | HP:0025125 | White lesion of the oral mucosa | 0 | CTC1 CL E G H | 80169 | 26169 | ORPHA:1775 | Dyskeratosis congenita | | | | 160 | | |
HP:0025125 | HP:0025125 | White lesion of the oral mucosa | 0 | DKC1 CL E G H | 1736 | 2890 | ORPHA:1775 | Dyskeratosis congenita | | | | 65 | | |
HP:0025125 | HP:0025125 | White lesion of the oral mucosa | 0 | DKC1 CL E G H | 1736 | 2890 | OMIM:305000 | Dyskeratosis congenita, X-linked | | | | 65 | | |
HP:0025125 | HP:0025125 | White lesion of the oral mucosa | 0 | DKC1 CL E G H | 1736 | 2890 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | | | | 65 | | |
HP:0025125 | HP:0025125 | White lesion of the oral mucosa | 0 | FERMT1 CL E G H | 55612 | 15889 | OMIM:173650 | Kindler syndrome | | | | 136 | | |
HP:0025125 | HP:0025125 | White lesion of the oral mucosa | 0 | GJB2 CL E G H | 2706 | 4284 | OMIM:148210 | Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant | | | | 199 | | |
HP:0025125 | HP:0025125 | White lesion of the oral mucosa | 0 | KRT16 CL E G H | 3868 | 6423 | ORPHA:2309 | Pachyonychia congenita | | | | 27 | | |
HP:0025125 | HP:0025125 | White lesion of the oral mucosa | 0 | KRT16 CL E G H | 3868 | 6423 | OMIM:167200 | Pachyonychia congenita, type 1 | | | | 27 | | |
HP:0025125 | HP:0025125 | White lesion of the oral mucosa | 0 | KRT17 CL E G H | 3872 | 6427 | ORPHA:2309 | Pachyonychia congenita | | | | 23 | | |
HP:0025125 | HP:0025125 | White lesion of the oral mucosa | 0 | KRT4 CL E G H | 3851 | 6441 | OMIM:193900 | White sponge nevus 1 | | | | 64 | | |
HP:0025125 | HP:0025125 | White lesion of the oral mucosa | 0 | KRT6A CL E G H | 3853 | 6443 | ORPHA:2309 | Pachyonychia congenita | | | | 41 | | |
HP:0025125 | HP:0025125 | White lesion of the oral mucosa | 0 | KRT6A CL E G H | 3853 | 6443 | OMIM:615726 | Pachyonychia congenita 3 | | | | 41 | | |
HP:0025125 | HP:0025125 | White lesion of the oral mucosa | 0 | KRT6B CL E G H | 3854 | 6444 | ORPHA:2309 | Pachyonychia congenita | | | | 4 | | |
HP:0025125 | HP:0025125 | White lesion of the oral mucosa | 0 | KRT6C CL E G H | 286887 | 20406 | OMIM:615735 | Palmoplantar keratoderma, nonepidermolytic, focal or diffuse | | | | 4 | | |
HP:0025125 | HP:0025125 | White lesion of the oral mucosa | 0 | MEFV CL E G H | 4210 | 6998 | ORPHA:342 | Familial Mediterranean fever | | | | 281 | | |
HP:0025125 | HP:0025125 | White lesion of the oral mucosa | 0 | NHP2 CL E G H | 55651 | 14377 | ORPHA:1775 | Dyskeratosis congenita | | | | 27 | | |
HP:0025125 | HP:0025125 | White lesion of the oral mucosa | 0 | NHP2 CL E G H | 55651 | 14377 | OMIM:613987 | Dyskeratosis congenita, autosomal recessive, 2 | | | | 27 | | |
HP:0025125 | HP:0025125 | White lesion of the oral mucosa | 0 | NOP10 CL E G H | 55505 | 14378 | ORPHA:1775 | Dyskeratosis congenita | | | | 17 | | |
HP:0025125 | HP:0025125 | White lesion of the oral mucosa | 0 | NPM1 CL E G H | 4869 | 7910 | ORPHA:1775 | Dyskeratosis congenita | | | | 12 | | |
HP:0025125 | HP:0025125 | White lesion of the oral mucosa | 0 | PARN CL E G H | 5073 | 8609 | ORPHA:1775 | Dyskeratosis congenita | | | | 26 | | |
HP:0025125 | HP:0025125 | White lesion of the oral mucosa | 0 | PARN CL E G H | 5073 | 8609 | OMIM:616353 | Dyskeratosis congenita, autosomal recessive 6 | | | | 26 | | |
HP:0025125 | HP:0025125 | White lesion of the oral mucosa | 0 | PARN CL E G H | 5073 | 8609 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | | | | 26 | | |
HP:0025125 | HP:0025125 | White lesion of the oral mucosa | 0 | RHBDF2 CL E G H | 79651 | 20788 | OMIM:148500 | Tylosis with esophageal cancer | | | | 80 | | |
HP:0025125 | HP:0025125 | White lesion of the oral mucosa | 0 | RPA1 CL E G H | 6117 | 10289 | OMIM:619767 | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6 | | | | | | |
HP:0025125 | HP:0025125 | White lesion of the oral mucosa | 0 | RTEL1 CL E G H | 51750 | 15888 | ORPHA:1775 | Dyskeratosis congenita | | | | 77 | | |
HP:0025125 | HP:0025125 | White lesion of the oral mucosa | 0 | RTEL1 CL E G H | 51750 | 15888 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | | | | 77 | | |
HP:0025125 | HP:0025125 | White lesion of the oral mucosa | 0 | TERC CL E G H | 7012 | 11727 | ORPHA:1775 | Dyskeratosis congenita | | | | 48 | | |
HP:0025125 | HP:0025125 | White lesion of the oral mucosa | 0 | TERC CL E G H | 7012 | 11727 | OMIM:127550 | Dyskeratosis congenita, autosomal dominant, 1 | | | | 48 | | |
HP:0025125 | HP:0025125 | White lesion of the oral mucosa | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:1775 | Dyskeratosis congenita | | | | 238 | | |
HP:0025125 | HP:0025125 | White lesion of the oral mucosa | 0 | TERT CL E G H | 7015 | 11730 | OMIM:613989 | Dyskeratosis congenita, autosomal dominant 2 | | | | 238 | | |
HP:0025125 | HP:0025125 | White lesion of the oral mucosa | 0 | TERT CL E G H | 7015 | 11730 | OMIM:127550 | Dyskeratosis congenita, autosomal dominant, 1 | | | | 238 | | |
HP:0025125 | HP:0025125 | White lesion of the oral mucosa | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | | | | 238 | | |
HP:0025125 | HP:0025125 | White lesion of the oral mucosa | 0 | TINF2 CL E G H | 26277 | 11824 | ORPHA:1775 | Dyskeratosis congenita | | | | 60 | | |
HP:0025125 | HP:0025125 | White lesion of the oral mucosa | 0 | TINF2 CL E G H | 26277 | 11824 | OMIM:613990 | Dyskeratosis congenita, autosomal dominant 3 | | | | 60 | | |
HP:0025125 | HP:0025125 | White lesion of the oral mucosa | 0 | TINF2 CL E G H | 26277 | 11824 | OMIM:127550 | Dyskeratosis congenita, autosomal dominant, 1 | | | | 60 | | |
HP:0025125 | HP:0025125 | White lesion of the oral mucosa | 0 | TINF2 CL E G H | 26277 | 11824 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | | | | 60 | | |
HP:0025125 | HP:0025125 | White lesion of the oral mucosa | 0 | TINF2 CL E G H | 26277 | 11824 | OMIM:268130 | Revesz syndrome | | | | 60 | | |
HP:0025125 | HP:0025125 | White lesion of the oral mucosa | 0 | TYMS CL E G H | 7298 | 12441 | OMIM:620040 | | | | | 1 | | |
HP:0025125 | HP:0025125 | White lesion of the oral mucosa | 0 | TYMS CL E G H | 7298 | 12441 | ORPHA:1775 | Dyskeratosis congenita | | | | 1 | | |
HP:0025125 | HP:0025125 | White lesion of the oral mucosa | 0 | USB1 CL E G H | 79650 | 25792 | ORPHA:1775 | Dyskeratosis congenita | | | | 8 | | |
HP:0025125 | HP:0025125 | White lesion of the oral mucosa | 0 | WRAP53 CL E G H | 55135 | 25522 | ORPHA:1775 | Dyskeratosis congenita | | | | 40 | | |
HP:0025125 | HP:0025125 | White lesion of the oral mucosa | 0 | WRAP53 CL E G H | 55135 | 25522 | OMIM:613988 | Dyskeratosis congenita, autosomal recessive, 3 | | | | 40 | | |
HP:0025125 | HP:0025126 | Oral hairy leukoplakia | 1 | CL E G H | | | | | | | | | | |
HP:0025125 | HP:0002745 | Oral leukoplakia | 1 | ACD CL E G H | 65057 | 25070 | OMIM:616553 | Dyskeratosis congenita, autosomal dominant 6 | . | | | 11 | | |
HP:0025125 | HP:0002745 | Oral leukoplakia | 1 | ACD CL E G H | 65057 | 25070 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | HP:0040282 - Frequent | | | 11 | | |
HP:0025125 | HP:0002745 | Oral leukoplakia | 1 | CTC1 CL E G H | 80169 | 26169 | OMIM:612199 | Cerebroretinal microangiopathy with calcifications and cysts | HP:0040283 - Occasional | | | 160 | | |
HP:0025125 | HP:0002745 | Oral leukoplakia | 1 | CTC1 CL E G H | 80169 | 26169 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 160 | | |
HP:0025125 | HP:0002745 | Oral leukoplakia | 1 | DKC1 CL E G H | 1736 | 2890 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 65 | | |
HP:0025125 | HP:0002745 | Oral leukoplakia | 1 | DKC1 CL E G H | 1736 | 2890 | OMIM:305000 | Dyskeratosis congenita, X-linked | . | | | 65 | | |
HP:0025125 | HP:0002745 | Oral leukoplakia | 1 | DKC1 CL E G H | 1736 | 2890 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | HP:0040282 - Frequent | | | 65 | | |
HP:0025125 | HP:0002745 | Oral leukoplakia | 1 | FERMT1 CL E G H | 55612 | 15889 | OMIM:173650 | Kindler syndrome | | | | 136 | | |
HP:0025125 | HP:0002745 | Oral leukoplakia | 1 | GJB2 CL E G H | 2706 | 4284 | OMIM:148210 | Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant | . | | | 199 | | |
HP:0025125 | HP:0002745 | Oral leukoplakia | 1 | KRT16 CL E G H | 3868 | 6423 | ORPHA:2309 | Pachyonychia congenita | HP:0040282 - Frequent | | | 27 | | |
HP:0025125 | HP:0002745 | Oral leukoplakia | 1 | KRT16 CL E G H | 3868 | 6423 | OMIM:167200 | Pachyonychia congenita, type 1 | . | | | 27 | | |
HP:0025125 | HP:0002745 | Oral leukoplakia | 1 | KRT17 CL E G H | 3872 | 6427 | ORPHA:2309 | Pachyonychia congenita | HP:0040282 - Frequent | | | 23 | | |
HP:0025125 | HP:0002745 | Oral leukoplakia | 1 | KRT4 CL E G H | 3851 | 6441 | OMIM:193900 | White sponge nevus 1 | . | | | 64 | | |
HP:0025125 | HP:0002745 | Oral leukoplakia | 1 | KRT6A CL E G H | 3853 | 6443 | ORPHA:2309 | Pachyonychia congenita | HP:0040282 - Frequent | | | 41 | | |
HP:0025125 | HP:0002745 | Oral leukoplakia | 1 | KRT6A CL E G H | 3853 | 6443 | OMIM:615726 | Pachyonychia congenita 3 | . | | | 41 | | |
HP:0025125 | HP:0002745 | Oral leukoplakia | 1 | KRT6B CL E G H | 3854 | 6444 | ORPHA:2309 | Pachyonychia congenita | HP:0040282 - Frequent | | | 4 | | |
HP:0025125 | HP:0002745 | Oral leukoplakia | 1 | KRT6C CL E G H | 286887 | 20406 | OMIM:615735 | Palmoplantar keratoderma, nonepidermolytic, focal or diffuse | | | | 4 | | |
HP:0025125 | HP:0002745 | Oral leukoplakia | 1 | MEFV CL E G H | 4210 | 6998 | ORPHA:342 | Familial Mediterranean fever | HP:0040282 - Frequent | | | 281 | | |
HP:0025125 | HP:0002745 | Oral leukoplakia | 1 | NHP2 CL E G H | 55651 | 14377 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 27 | | |
HP:0025125 | HP:0002745 | Oral leukoplakia | 1 | NHP2 CL E G H | 55651 | 14377 | OMIM:613987 | Dyskeratosis congenita, autosomal recessive, 2 | | | | 27 | | |
HP:0025125 | HP:0002745 | Oral leukoplakia | 1 | NOP10 CL E G H | 55505 | 14378 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 17 | | |
HP:0025125 | HP:0002745 | Oral leukoplakia | 1 | NPM1 CL E G H | 4869 | 7910 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 12 | | |
HP:0025125 | HP:0002745 | Oral leukoplakia | 1 | PARN CL E G H | 5073 | 8609 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 26 | | |
HP:0025125 | HP:0002745 | Oral leukoplakia | 1 | PARN CL E G H | 5073 | 8609 | OMIM:616353 | Dyskeratosis congenita, autosomal recessive 6 | | | | 26 | | |
HP:0025125 | HP:0002745 | Oral leukoplakia | 1 | PARN CL E G H | 5073 | 8609 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | HP:0040282 - Frequent | | | 26 | | |
HP:0025125 | HP:0002745 | Oral leukoplakia | 1 | RHBDF2 CL E G H | 79651 | 20788 | OMIM:148500 | Tylosis with esophageal cancer | | | | 80 | | |
HP:0025125 | HP:0002745 | Oral leukoplakia | 1 | RPA1 CL E G H | 6117 | 10289 | OMIM:619767 | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6 | | | | | | |
HP:0025125 | HP:0002745 | Oral leukoplakia | 1 | RTEL1 CL E G H | 51750 | 15888 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 77 | | |
HP:0025125 | HP:0002745 | Oral leukoplakia | 1 | RTEL1 CL E G H | 51750 | 15888 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | HP:0040282 - Frequent | | | 77 | | |
HP:0025125 | HP:0002745 | Oral leukoplakia | 1 | TERC CL E G H | 7012 | 11727 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 48 | | |
HP:0025125 | HP:0002745 | Oral leukoplakia | 1 | TERC CL E G H | 7012 | 11727 | OMIM:127550 | Dyskeratosis congenita, autosomal dominant, 1 | . | | | 48 | | |
HP:0025125 | HP:0002745 | Oral leukoplakia | 1 | TERT CL E G H | 7015 | 11730 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 238 | | |
HP:0025125 | HP:0002745 | Oral leukoplakia | 1 | TERT CL E G H | 7015 | 11730 | OMIM:613989 | Dyskeratosis congenita, autosomal dominant 2 | | | | 238 | | |
HP:0025125 | HP:0002745 | Oral leukoplakia | 1 | TERT CL E G H | 7015 | 11730 | OMIM:127550 | Dyskeratosis congenita, autosomal dominant, 1 | . | | | 238 | | |
HP:0025125 | HP:0002745 | Oral leukoplakia | 1 | TERT CL E G H | 7015 | 11730 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | HP:0040282 - Frequent | | | 238 | | |
HP:0025125 | HP:0002745 | Oral leukoplakia | 1 | TINF2 CL E G H | 26277 | 11824 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 60 | | |
HP:0025125 | HP:0002745 | Oral leukoplakia | 1 | TINF2 CL E G H | 26277 | 11824 | OMIM:613990 | Dyskeratosis congenita, autosomal dominant 3 | . | | | 60 | | |
HP:0025125 | HP:0002745 | Oral leukoplakia | 1 | TINF2 CL E G H | 26277 | 11824 | OMIM:127550 | Dyskeratosis congenita, autosomal dominant, 1 | . | | | 60 | | |
HP:0025125 | HP:0002745 | Oral leukoplakia | 1 | TINF2 CL E G H | 26277 | 11824 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | HP:0040282 - Frequent | | | 60 | | |
HP:0025125 | HP:0002745 | Oral leukoplakia | 1 | TINF2 CL E G H | 26277 | 11824 | OMIM:268130 | Revesz syndrome | . | | | 60 | | |
HP:0025125 | HP:0002745 | Oral leukoplakia | 1 | TYMS CL E G H | 7298 | 12441 | OMIM:620040 | | | | | 1 | | |
HP:0025125 | HP:0002745 | Oral leukoplakia | 1 | TYMS CL E G H | 7298 | 12441 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 1 | | |
HP:0025125 | HP:0002745 | Oral leukoplakia | 1 | USB1 CL E G H | 79650 | 25792 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 8 | | |
HP:0025125 | HP:0002745 | Oral leukoplakia | 1 | WRAP53 CL E G H | 55135 | 25522 | ORPHA:1775 | Dyskeratosis congenita | HP:0040281 - Very frequent | | | 40 | | |
HP:0025125 | HP:0002745 | Oral leukoplakia | 1 | WRAP53 CL E G H | 55135 | 25522 | OMIM:613988 | Dyskeratosis congenita, autosomal recessive, 3 | | | | 40 | | |