Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | ABCA2 CL E G H | 20 | 32 | OMIM:618808 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA | | | | | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | ACD CL E G H | 65057 | 25070 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | | | | 11 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | AP3B1 CL E G H | 8546 | 566 | OMIM:608233 | Hermansky-Pudlak syndrome 2 | | | | 83 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | AP3D1 CL E G H | 8943 | 568 | OMIM:617050 | HERMANSKY-PUDLAK SYNDROME 10; HPS10 | | | | 1 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | ATM CL E G H | 472 | 795 | ORPHA:100 | Ataxia-telangiectasia | HP:0040282 - Frequent | | | 3267 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | ATP10A CL E G H | 57194 | 13542 | ORPHA:411515 | Angelman syndrome due to imprinting defect in 15q11-q13 | HP:0040282 - Frequent | | | 4 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | ATP7A CL E G H | 538 | 869 | ORPHA:565 | Menkes disease | HP:0040281 - Very frequent | | | 192 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | BLOC1S3 CL E G H | 388552 | 20914 | OMIM:614077 | Hermansky-Pudlak syndrome 8 | | | | 42 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | BLOC1S5 CL E G H | 63915 | 18561 | OMIM:619172 | HERMANSKY-PUDLAK SYNDROME 11; HPS11 | | | | | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | CACNA1F CL E G H | 778 | 1393 | OMIM:300600 | Aland island eye disease | | | | 58 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | CHN1 CL E G H | 1123 | 1943 | ORPHA:233 | Duane retraction syndrome | | | | 35 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | CLCN7 CL E G H | 1186 | 2025 | OMIM:618541 | Hypopigmentation, organomegaly, and delayed myelination and development | | | | 102 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | CTC1 CL E G H | 80169 | 26169 | ORPHA:1775 | Dyskeratosis congenita | | | | 160 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | CTNS CL E G H | 1497 | 2518 | OMIM:219800 | Cystinosis, nephropathic | . | | | 178 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | DCT CL E G H | 1638 | 2709 | OMIM:619165 | OCULOCUTANEOUS ALBINISM, TYPE VIII; OCA8 | | | | | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | DHCR7 CL E G H | 1717 | 2860 | ORPHA:818 | Smith-Lemli-Opitz syndrome | HP:0040283 - Occasional | | | 159 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | DKC1 CL E G H | 1736 | 2890 | ORPHA:1775 | Dyskeratosis congenita | | | | 65 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | DKC1 CL E G H | 1736 | 2890 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | | | | 65 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | DSTYK CL E G H | 25778 | 29043 | ORPHA:101003 | Autosomal recessive spastic paraplegia type 23 | | | | 13 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | DTNBP1 CL E G H | 84062 | 17328 | OMIM:614076 | Hermansky-Pudlak syndrome 7 | | | | 46 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | EDN3 CL E G H | 1908 | 3178 | OMIM:613265 | Waardenburg syndrome, type 4B | | | | 67 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | EDN3 CL E G H | 1908 | 3178 | ORPHA:897 | Waardenburg-Shah syndrome | HP:0040281 - Very frequent | | | 67 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | EDNRB CL E G H | 1910 | 3180 | OMIM:600501 | Abcd syndrome | | | | 55 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | EDNRB CL E G H | 1910 | 3180 | ORPHA:895 | Waardenburg syndrome type 2 | HP:0040281 - Very frequent | | | 55 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | EDNRB CL E G H | 1910 | 3180 | ORPHA:897 | Waardenburg-Shah syndrome | HP:0040281 - Very frequent | | | 55 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | EDNRB CL E G H | 1910 | 3180 | OMIM:277580 | Waardenburg-Shah syndrome | | | | 55 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | . | | | 40 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | FAS CL E G H | 355 | 11920 | ORPHA:3437 | Vogt-Koyanagi-Harada disease | | | | 59 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:53271 | Muenke syndrome | HP:0040283 - Occasional | | | 145 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | GJB6 CL E G H | 10804 | 4288 | ORPHA:189 | Hidrotic ectodermal dysplasia | | | | 56 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | GNPTAB CL E G H | 79158 | 29670 | ORPHA:576 | Mucolipidosis type II | | | | 240 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | HERC2 CL E G H | 8924 | 4868 | OMIM:176270 | Prader-Willi syndrome | | | | 38 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | HPS1 CL E G H | 3257 | 5163 | OMIM:203300 | Hermansky-Pudlak syndrome 1 | | | | 121 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | HPS3 CL E G H | 84343 | 15597 | OMIM:614072 | Hermansky-Pudlak syndrome 3 | | | | 67 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | HPS4 CL E G H | 89781 | 15844 | OMIM:614073 | Hermansky-Pudlak syndrome 4 | | | | 123 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | HPS5 CL E G H | 11234 | 17022 | OMIM:614074 | Hermansky-Pudlak syndrome 5 | | | | 105 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | HPS6 CL E G H | 79803 | 18817 | OMIM:614075 | Hermansky-Pudlak syndrome 6 | | | | 45 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | HRAS CL E G H | 3265 | 5173 | ORPHA:79414 | Woolly hair nevus | | | | 113 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | | | | 148 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | IPW CL E G H | 3653 | 6109 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363958 | 17q21.31 microdeletion syndrome | | | | 283 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | KANSL1 CL E G H | 284058 | 24565 | OMIM:610443 | Koolen-De Vries syndrome | | | | 283 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363965 | Koolen-De Vries syndrome due to a point mutation | | | | 283 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | KIT CL E G H | 3815 | 6342 | OMIM:172800 | Piebald trait | | | | 327 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | KIT CL E G H | 3815 | 6342 | ORPHA:2884 | Piebaldism | HP:0040281 - Very frequent | | | 327 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | KITLG CL E G H | 4254 | 6343 | OMIM:619947 | | | | | 9 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | KITLG CL E G H | 4254 | 6343 | ORPHA:895 | Waardenburg syndrome type 2 | HP:0040281 - Very frequent | | | 9 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | KRT25 CL E G H | 147183 | 30839 | ORPHA:170 | Woolly hair | HP:0040282 - Frequent | | | 2 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | KRT71 CL E G H | 112802 | 28927 | ORPHA:170 | Woolly hair | HP:0040282 - Frequent | | | 1 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | KRT74 CL E G H | 121391 | 28929 | ORPHA:170 | Woolly hair | HP:0040282 - Frequent | | | 5 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | LAMTOR2 CL E G H | 28956 | 29796 | ORPHA:90023 | Primary immunodeficiency syndrome due to LAMTOR2 deficiency | HP:0040281 - Very frequent | | | 1 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | LIPH CL E G H | 200879 | 18483 | ORPHA:170 | Woolly hair | HP:0040282 - Frequent | | | 12 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:79474 | Atypical Werner syndrome | | | | 645 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | LPAR6 CL E G H | 10161 | 15520 | OMIM:278150 | Hypotrichosis 8 | | | | 8 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | LPAR6 CL E G H | 10161 | 15520 | ORPHA:170 | Woolly hair | HP:0040282 - Frequent | | | 8 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | LRMDA CL E G H | 83938 | 23405 | OMIM:615179 | Albinism, oculocutaneous, type V | | | | 13 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | LRPPRC CL E G H | 10128 | 15714 | ORPHA:70472 | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | HP:0040283 - Occasional | | | 191 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | LYST CL E G H | 1130 | 1968 | ORPHA:167 | Chédiak-Higashi syndrome | HP:0040282 - Frequent | | | 239 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | LYST CL E G H | 1130 | 1968 | OMIM:214500 | Chediak-Higashi syndrome | | | | 239 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | MAFB CL E G H | 9935 | 6408 | ORPHA:233 | Duane retraction syndrome | | | | 63 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:398069 | MAGEL2-related Prader-Willi-like syndrome | HP:0040283 - Occasional | | | 63 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:176270 | Prader-Willi syndrome | | | | 63 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177910 | Prader-Willi syndrome due to imprinting mutation | HP:0040284 - Very rare | | | 63 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040284 - Very rare | | | 63 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | 63 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | 63 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | MC1R CL E G H | 4157 | 6929 | OMIM:203200 | Albinism, oculocutaneous, type II | . | | | 124 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | MC1R CL E G H | 4157 | 6929 | ORPHA:79432 | Oculocutaneous albinism type 2 | HP:0040282 - Frequent | | | 124 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | MITF CL E G H | 4286 | 7105 | ORPHA:42665 | Tietz syndrome | HP:0040281 - Very frequent | | | 91 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | MITF CL E G H | 4286 | 7105 | ORPHA:895 | Waardenburg syndrome type 2 | HP:0040281 - Very frequent | | | 91 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | MITF CL E G H | 4286 | 7105 | OMIM:193510 | Waardenburg syndrome, type 2A | | | | 91 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | MITF CL E G H | 4286 | 7105 | ORPHA:897 | Waardenburg-Shah syndrome | HP:0040281 - Very frequent | | | 91 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | MKRN3 CL E G H | 7681 | 7114 | OMIM:176270 | Prader-Willi syndrome | | | | 5 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | MKRN3-AS1 CL E G H | 10108 | | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | MLPH CL E G H | 79083 | 29643 | ORPHA:79478 | Griscelli syndrome type 3 | HP:0040281 - Very frequent | | | 7 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | MLPH CL E G H | 79083 | 29643 | OMIM:609227 | Griscelli syndrome, type 3 | | | | 7 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | MOGS CL E G H | 7841 | 24862 | ORPHA:79330 | MOGS-CDG | | | | 37 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | MYO5A CL E G H | 4644 | 7602 | ORPHA:79476 | Griscelli syndrome type 1 | | | | 35 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | MYO5A CL E G H | 4644 | 7602 | ORPHA:79478 | Griscelli syndrome type 3 | HP:0040281 - Very frequent | | | 35 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | MYO5A CL E G H | 4644 | 7602 | OMIM:214450 | Griscelli syndrome, type 1 | | | | 35 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | MYO5A CL E G H | 4644 | 7602 | ORPHA:33445 | Neuroectodermal melanolysosomal disease | HP:0040281 - Very frequent | | | 35 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:177910 | Prader-Willi syndrome due to imprinting mutation | HP:0040284 - Very rare | | | | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040284 - Very rare | | | | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | NHP2 CL E G H | 55651 | 14377 | ORPHA:1775 | Dyskeratosis congenita | | | | 27 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | NOP10 CL E G H | 55505 | 14378 | ORPHA:1775 | Dyskeratosis congenita | | | | 17 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | NPAP1 CL E G H | 23742 | 1190 | OMIM:176270 | Prader-Willi syndrome | | | | 1 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | NPM1 CL E G H | 4869 | 7910 | ORPHA:1775 | Dyskeratosis congenita | | | | 12 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | OCA2 CL E G H | 4948 | 8101 | OMIM:203200 | Albinism, oculocutaneous, type II | . | | | 121 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:98794 | Angelman syndrome due to maternal 15q11q13 deletion | HP:0040282 - Frequent | | | 121 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:79432 | Oculocutaneous albinism type 2 | HP:0040282 - Frequent | | | 121 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040284 - Very rare | | | 121 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | 121 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | 121 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | PADI3 CL E G H | 51702 | 18337 | ORPHA:1410 | Uncombable hair syndrome | | | | 3 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | PAH CL E G H | 5053 | 8582 | ORPHA:79254 | Classic phenylketonuria | HP:0040281 - Very frequent | | | 641 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | PARN CL E G H | 5073 | 8609 | ORPHA:1775 | Dyskeratosis congenita | | | | 26 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | PARN CL E G H | 5073 | 8609 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | | | | 26 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | PAX3 CL E G H | 5077 | 8617 | ORPHA:894 | Waardenburg syndrome type 1 | HP:0040281 - Very frequent | | | 59 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | PAX3 CL E G H | 5077 | 8617 | ORPHA:896 | Waardenburg syndrome type 3 | | | | 59 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | PAX3 CL E G H | 5077 | 8617 | OMIM:193500 | Waardenburg syndrome, type 1 | | | | 59 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | PAX3 CL E G H | 5077 | 8617 | OMIM:148820 | Waardenburg syndrome, type 3 | | | | 59 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | PDE4D CL E G H | 5144 | 8783 | OMIM:614613 | Acrodysostosis 2 with or without hormone resistance | | | | 113 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | PDE4D CL E G H | 5144 | 8783 | ORPHA:280651 | Acrodysostosis with multiple hormone resistance | | | | 113 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | PEPD CL E G H | 5184 | 8840 | ORPHA:742 | Prolidase deficiency | | | | 66 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | PIGN CL E G H | 23556 | 8967 | ORPHA:280633 | Multiple congenital anomalies-hypotonia-seizures syndrome | | | | 37 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:280651 | Acrodysostosis with multiple hormone resistance | | | | 134 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:3437 | Vogt-Koyanagi-Harada disease | | | | 3 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | PWAR1 CL E G H | 145624 | 30089 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | PWRN1 CL E G H | 791114 | 33235 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | RAB27A CL E G H | 5873 | 9766 | ORPHA:79477 | Griscelli syndrome type 2 | HP:0040281 - Very frequent | | | 67 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | RAB27A CL E G H | 5873 | 9766 | OMIM:607624 | Griscelli syndrome, type 2 | | | | 67 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | RMRP CL E G H | 6023 | 10031 | OMIM:250250 | Cartilage-Hair hypoplasia | | | | 37 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | RTEL1 CL E G H | 51750 | 15888 | ORPHA:1775 | Dyskeratosis congenita | | | | 77 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | RTEL1 CL E G H | 51750 | 15888 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | | | | 77 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | SALL4 CL E G H | 57167 | 15924 | ORPHA:233 | Duane retraction syndrome | | | | 86 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | SIM1 CL E G H | 6492 | 10882 | ORPHA:398079 | SIM1-related Prader-Willi-like syndrome | HP:0040283 - Occasional | | | 40 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | SKIC2 CL E G H | 6499 | 10898 | ORPHA:84064 | Syndromic diarrhea | HP:0040282 - Frequent | | | | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | SKIC3 CL E G H | 9652 | 23639 | ORPHA:84064 | Syndromic diarrhea | HP:0040282 - Frequent | | | | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | SLC17A5 CL E G H | 26503 | 10933 | OMIM:269920 | Infantile sialic acid storage disease | | | | 78 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | SLC45A2 CL E G H | 51151 | 16472 | OMIM:606574 | ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA4 | | | | 42 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | SLC45A2 CL E G H | 51151 | 16472 | ORPHA:79435 | Oculocutaneous albinism type 4 | HP:0040282 - Frequent | | | 42 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | SNAI2 CL E G H | 6591 | 11094 | OMIM:172800 | Piebald trait | | | | 19 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | SNAI2 CL E G H | 6591 | 11094 | ORPHA:2884 | Piebaldism | HP:0040281 - Very frequent | | | 19 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | SNAI2 CL E G H | 6591 | 11094 | ORPHA:895 | Waardenburg syndrome type 2 | HP:0040281 - Very frequent | | | 19 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | SNORD115-1 CL E G H | 338433 | 33020 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | SNORD116-1 CL E G H | 100033413 | 33067 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | SNRPN CL E G H | 6638 | 11164 | OMIM:105830 | Angelman syndrome | | | | 37 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:411515 | Angelman syndrome due to imprinting defect in 15q11-q13 | HP:0040282 - Frequent | | | 37 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177910 | Prader-Willi syndrome due to imprinting mutation | HP:0040284 - Very rare | | | 37 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040284 - Very rare | | | 37 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | 37 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | 37 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177907 | Prader-Willi syndrome due to translocation | HP:0040283 - Occasional | | | 37 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | SOX10 CL E G H | 6663 | 11190 | OMIM:609136 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | | | | 61 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | SOX10 CL E G H | 6663 | 11190 | ORPHA:163746 | Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease | HP:0040282 - Frequent | | | 61 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | SOX10 CL E G H | 6663 | 11190 | ORPHA:895 | Waardenburg syndrome type 2 | HP:0040281 - Very frequent | | | 61 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | SOX10 CL E G H | 6663 | 11190 | OMIM:611584 | Waardenburg syndrome, type 2E | | | | 61 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | SOX10 CL E G H | 6663 | 11190 | OMIM:613266 | Waardenburg syndrome, type 4C | | | | 61 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | SOX10 CL E G H | 6663 | 11190 | ORPHA:897 | Waardenburg-Shah syndrome | HP:0040281 - Very frequent | | | 61 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | TAFAZZIN CL E G H | 6901 | 11577 | OMIM:302060 | Barth syndrome | | | | | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | TERC CL E G H | 7012 | 11727 | ORPHA:1775 | Dyskeratosis congenita | | | | 48 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:1775 | Dyskeratosis congenita | | | | 238 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | TERT CL E G H | 7015 | 11730 | OMIM:613989 | Dyskeratosis congenita, autosomal dominant 2 | | | | 238 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | | | | 238 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | TFAP2A CL E G H | 7020 | 11742 | OMIM:113620 | Branchiooculofacial syndrome | | | | 12 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | TGM3 CL E G H | 7053 | 11779 | ORPHA:1410 | Uncombable hair syndrome | | | | 1 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | TINF2 CL E G H | 26277 | 11824 | ORPHA:1775 | Dyskeratosis congenita | | | | 60 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | TINF2 CL E G H | 26277 | 11824 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | | | | 60 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | TMCO1 CL E G H | 54499 | 18188 | OMIM:213980 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | | | | 6 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:103285 | Adult syndrome | | | | 140 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:604292 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | | | | 140 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | TYMS CL E G H | 7298 | 12441 | ORPHA:1775 | Dyskeratosis congenita | | | | 1 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | TYR CL E G H | 7299 | 12442 | OMIM:203100 | Albinism, oculocutaneous, type IA | . | | | 146 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | TYR CL E G H | 7299 | 12442 | OMIM:606952 | Albinism, oculocutaneous, type IB | . | | | 146 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | TYR CL E G H | 7299 | 12442 | ORPHA:79431 | Oculocutaneous albinism type 1A | HP:0040281 - Very frequent | | | 146 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | TYR CL E G H | 7299 | 12442 | ORPHA:79434 | Oculocutaneous albinism type 1B | HP:0040281 - Very frequent | | | 146 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | TYR CL E G H | 7299 | 12442 | ORPHA:895 | Waardenburg syndrome type 2 | HP:0040281 - Very frequent | | | 146 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | TYRP1 CL E G H | 7306 | 12450 | OMIM:203290 | Albinism, oculocutaneous, type III | | | | 62 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | TYRP1 CL E G H | 7306 | 12450 | ORPHA:79433 | Oculocutaneous albinism type 3 | | | | 62 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | UBE3A CL E G H | 7337 | 12496 | OMIM:105830 | Angelman syndrome | | | | 278 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | UBE3A CL E G H | 7337 | 12496 | ORPHA:411511 | Angelman syndrome due to a point mutation | HP:0040282 - Frequent | | | 278 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | UBE3A CL E G H | 7337 | 12496 | ORPHA:411515 | Angelman syndrome due to imprinting defect in 15q11-q13 | HP:0040282 - Frequent | | | 278 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | UBE3A CL E G H | 7337 | 12496 | ORPHA:98794 | Angelman syndrome due to maternal 15q11q13 deletion | HP:0040282 - Frequent | | | 278 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | UBE3A CL E G H | 7337 | 12496 | ORPHA:98795 | Angelman syndrome due to paternal uniparental disomy of chromosome 15 | HP:0040282 - Frequent | | | 278 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | UBR1 CL E G H | 197131 | 16808 | OMIM:243800 | Johanson-Blizzard syndrome | | | | 25 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | USB1 CL E G H | 79650 | 25792 | ORPHA:1775 | Dyskeratosis congenita | | | | 8 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | WDR45 CL E G H | 11152 | 28912 | OMIM:615179 | Albinism, oculocutaneous, type V | | | | 51 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | WRAP53 CL E G H | 55135 | 25522 | ORPHA:1775 | Dyskeratosis congenita | | | | 40 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | WRN CL E G H | 7486 | 12791 | ORPHA:902 | Werner syndrome | | | | 310 | | |
HP:0005599 | HP:0005599 | Hypopigmentation of hair | 0 | ZNF699 CL E G H | 374879 | 24750 | OMIM:619488 | DEGCAGS SYNDROME; DEGCAGS | | | | | | |
HP:0005599 | HP:0011358 | Generalized hypopigmentation of hair | 1 | ABCA2 CL E G H | 20 | 32 | OMIM:618808 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA | | | | | | |
HP:0005599 | HP:0011358 | Generalized hypopigmentation of hair | 1 | ACD CL E G H | 65057 | 25070 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | HP:0040282 - Frequent | | | 11 | | |
HP:0005599 | HP:0001022 | Albinism | 1 | AP3B1 CL E G H | 8546 | 566 | OMIM:608233 | Hermansky-Pudlak syndrome 2 | | | | 83 | | |
HP:0005599 | HP:0011358 | Generalized hypopigmentation of hair | 1 | AP3B1 CL E G H | 8546 | 566 | OMIM:608233 | Hermansky-Pudlak syndrome 2 | | | | 83 | | |
HP:0005599 | HP:0001022 | Albinism | 1 | AP3D1 CL E G H | 8943 | 568 | OMIM:617050 | HERMANSKY-PUDLAK SYNDROME 10; HPS10 | | | | 1 | | |
HP:0005599 | HP:0001022 | Albinism | 1 | BLOC1S3 CL E G H | 388552 | 20914 | OMIM:614077 | Hermansky-Pudlak syndrome 8 | . | | | 42 | | |
HP:0005599 | HP:0011358 | Generalized hypopigmentation of hair | 1 | BLOC1S5 CL E G H | 63915 | 18561 | OMIM:619172 | HERMANSKY-PUDLAK SYNDROME 11; HPS11 | | | | | | |
HP:0005599 | HP:0001022 | Albinism | 1 | BLOC1S5 CL E G H | 63915 | 18561 | OMIM:619172 | HERMANSKY-PUDLAK SYNDROME 11; HPS11 | | | | | | |
HP:0005599 | HP:0001022 | Albinism | 1 | CACNA1F CL E G H | 778 | 1393 | OMIM:300600 | Aland island eye disease | . | | | 58 | | |
HP:0005599 | HP:0011365 | Patchy hypopigmentation of hair | 1 | CHN1 CL E G H | 1123 | 1943 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 35 | | |
HP:0005599 | HP:0011358 | Generalized hypopigmentation of hair | 1 | CTC1 CL E G H | 80169 | 26169 | ORPHA:1775 | Dyskeratosis congenita | | | | 160 | | |
HP:0005599 | HP:0011358 | Generalized hypopigmentation of hair | 1 | DKC1 CL E G H | 1736 | 2890 | ORPHA:1775 | Dyskeratosis congenita | | | | 65 | | |
HP:0005599 | HP:0011358 | Generalized hypopigmentation of hair | 1 | DKC1 CL E G H | 1736 | 2890 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | HP:0040282 - Frequent | | | 65 | | |
HP:0005599 | HP:0011358 | Generalized hypopigmentation of hair | 1 | DSTYK CL E G H | 25778 | 29043 | ORPHA:101003 | Autosomal recessive spastic paraplegia type 23 | | | | 13 | | |
HP:0005599 | HP:0001022 | Albinism | 1 | DTNBP1 CL E G H | 84062 | 17328 | OMIM:614076 | Hermansky-Pudlak syndrome 7 | . | | | 46 | | |
HP:0005599 | HP:0011365 | Patchy hypopigmentation of hair | 1 | EDN3 CL E G H | 1908 | 3178 | OMIM:613265 | Waardenburg syndrome, type 4B | | | | 67 | | |
HP:0005599 | HP:0011365 | Patchy hypopigmentation of hair | 1 | EDN3 CL E G H | 1908 | 3178 | ORPHA:897 | Waardenburg-Shah syndrome | | | | 67 | | |
HP:0005599 | HP:0001022 | Albinism | 1 | EDNRB CL E G H | 1910 | 3180 | OMIM:600501 | Abcd syndrome | . | | | 55 | | |
HP:0005599 | HP:0011365 | Patchy hypopigmentation of hair | 1 | EDNRB CL E G H | 1910 | 3180 | ORPHA:895 | Waardenburg syndrome type 2 | | | | 55 | | |
HP:0005599 | HP:0011365 | Patchy hypopigmentation of hair | 1 | EDNRB CL E G H | 1910 | 3180 | OMIM:277580 | Waardenburg-Shah syndrome | | | | 55 | | |
HP:0005599 | HP:0011365 | Patchy hypopigmentation of hair | 1 | EDNRB CL E G H | 1910 | 3180 | ORPHA:897 | Waardenburg-Shah syndrome | | | | 55 | | |
HP:0005599 | HP:0001022 | Albinism | 1 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | . | | | 40 | | |
HP:0005599 | HP:0011365 | Patchy hypopigmentation of hair | 1 | FAS CL E G H | 355 | 11920 | ORPHA:3437 | Vogt-Koyanagi-Harada disease | | | | 59 | | |
HP:0005599 | HP:0011358 | Generalized hypopigmentation of hair | 1 | GNPTAB CL E G H | 79158 | 29670 | ORPHA:576 | Mucolipidosis type II | | | | 240 | | |
HP:0005599 | HP:0001022 | Albinism | 1 | HPS1 CL E G H | 3257 | 5163 | OMIM:203300 | Hermansky-Pudlak syndrome 1 | . | | | 121 | | |
HP:0005599 | HP:0001022 | Albinism | 1 | HPS3 CL E G H | 84343 | 15597 | OMIM:614072 | Hermansky-Pudlak syndrome 3 | | | | 67 | | |
HP:0005599 | HP:0001022 | Albinism | 1 | HPS4 CL E G H | 89781 | 15844 | OMIM:614073 | Hermansky-Pudlak syndrome 4 | . | | | 123 | | |
HP:0005599 | HP:0001022 | Albinism | 1 | HPS5 CL E G H | 11234 | 17022 | OMIM:614074 | Hermansky-Pudlak syndrome 5 | . | | | 105 | | |
HP:0005599 | HP:0001022 | Albinism | 1 | HPS6 CL E G H | 79803 | 18817 | OMIM:614075 | Hermansky-Pudlak syndrome 6 | . | | | 45 | | |
HP:0005599 | HP:0011365 | Patchy hypopigmentation of hair | 1 | HRAS CL E G H | 3265 | 5173 | ORPHA:79414 | Woolly hair nevus | | | | 113 | | |
HP:0005599 | HP:0011358 | Generalized hypopigmentation of hair | 1 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | | | | 148 | | |
HP:0005599 | HP:0011358 | Generalized hypopigmentation of hair | 1 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363958 | 17q21.31 microdeletion syndrome | | | | 283 | | |
HP:0005599 | HP:0011358 | Generalized hypopigmentation of hair | 1 | KANSL1 CL E G H | 284058 | 24565 | OMIM:610443 | Koolen-De Vries syndrome | | | | 283 | | |
HP:0005599 | HP:0011358 | Generalized hypopigmentation of hair | 1 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363965 | Koolen-De Vries syndrome due to a point mutation | | | | 283 | | |
HP:0005599 | HP:0011365 | Patchy hypopigmentation of hair | 1 | KIT CL E G H | 3815 | 6342 | OMIM:172800 | Piebald trait | | | | 327 | | |
HP:0005599 | HP:0011365 | Patchy hypopigmentation of hair | 1 | KIT CL E G H | 3815 | 6342 | ORPHA:2884 | Piebaldism | | | | 327 | | |
HP:0005599 | HP:0011365 | Patchy hypopigmentation of hair | 1 | KITLG CL E G H | 4254 | 6343 | OMIM:619947 | | | | | 9 | | |
HP:0005599 | HP:0011358 | Generalized hypopigmentation of hair | 1 | KITLG CL E G H | 4254 | 6343 | OMIM:619947 | | | | | 9 | | |
HP:0005599 | HP:0011365 | Patchy hypopigmentation of hair | 1 | KITLG CL E G H | 4254 | 6343 | ORPHA:895 | Waardenburg syndrome type 2 | | | | 9 | | |
HP:0005599 | HP:0011365 | Patchy hypopigmentation of hair | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:79474 | Atypical Werner syndrome | | | | 645 | | |
HP:0005599 | HP:0011358 | Generalized hypopigmentation of hair | 1 | LPAR6 CL E G H | 10161 | 15520 | OMIM:278150 | Hypotrichosis 8 | | | | 8 | | |
HP:0005599 | HP:0001022 | Albinism | 1 | LRMDA CL E G H | 83938 | 23405 | OMIM:615179 | Albinism, oculocutaneous, type V | . | | | 13 | | |
HP:0005599 | HP:0011358 | Generalized hypopigmentation of hair | 1 | LYST CL E G H | 1130 | 1968 | OMIM:214500 | Chediak-Higashi syndrome | | | | 239 | | |
HP:0005599 | HP:0011365 | Patchy hypopigmentation of hair | 1 | MAFB CL E G H | 9935 | 6408 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 63 | | |
HP:0005599 | HP:0001022 | Albinism | 1 | MC1R CL E G H | 4157 | 6929 | OMIM:203200 | Albinism, oculocutaneous, type II | . | | | 124 | | |
HP:0005599 | HP:0011358 | Generalized hypopigmentation of hair | 1 | MC1R CL E G H | 4157 | 6929 | ORPHA:79432 | Oculocutaneous albinism type 2 | | | | 124 | | |
HP:0005599 | HP:0011365 | Patchy hypopigmentation of hair | 1 | MITF CL E G H | 4286 | 7105 | ORPHA:895 | Waardenburg syndrome type 2 | | | | 91 | | |
HP:0005599 | HP:0011365 | Patchy hypopigmentation of hair | 1 | MITF CL E G H | 4286 | 7105 | OMIM:193510 | Waardenburg syndrome, type 2A | | | | 91 | | |
HP:0005599 | HP:0001022 | Albinism | 1 | MITF CL E G H | 4286 | 7105 | OMIM:193510 | Waardenburg syndrome, type 2A | . | HP:0003577 - Congenital onset | | 91 | | |
HP:0005599 | HP:0011365 | Patchy hypopigmentation of hair | 1 | MITF CL E G H | 4286 | 7105 | ORPHA:897 | Waardenburg-Shah syndrome | | | | 91 | | |
HP:0005599 | HP:0011358 | Generalized hypopigmentation of hair | 1 | MLPH CL E G H | 79083 | 29643 | OMIM:609227 | Griscelli syndrome, type 3 | | | | 7 | | |
HP:0005599 | HP:0011358 | Generalized hypopigmentation of hair | 1 | MOGS CL E G H | 7841 | 24862 | ORPHA:79330 | MOGS-CDG | | | | 37 | | |
HP:0005599 | HP:0011358 | Generalized hypopigmentation of hair | 1 | MYO5A CL E G H | 4644 | 7602 | ORPHA:79476 | Griscelli syndrome type 1 | | | | 35 | | |
HP:0005599 | HP:0011358 | Generalized hypopigmentation of hair | 1 | MYO5A CL E G H | 4644 | 7602 | OMIM:214450 | Griscelli syndrome, type 1 | | | | 35 | | |
HP:0005599 | HP:0011358 | Generalized hypopigmentation of hair | 1 | NHP2 CL E G H | 55651 | 14377 | ORPHA:1775 | Dyskeratosis congenita | | | | 27 | | |
HP:0005599 | HP:0011358 | Generalized hypopigmentation of hair | 1 | NOP10 CL E G H | 55505 | 14378 | ORPHA:1775 | Dyskeratosis congenita | | | | 17 | | |
HP:0005599 | HP:0011358 | Generalized hypopigmentation of hair | 1 | NPM1 CL E G H | 4869 | 7910 | ORPHA:1775 | Dyskeratosis congenita | | | | 12 | | |
HP:0005599 | HP:0001022 | Albinism | 1 | OCA2 CL E G H | 4948 | 8101 | OMIM:203200 | Albinism, oculocutaneous, type II | . | | | 121 | | |
HP:0005599 | HP:0011358 | Generalized hypopigmentation of hair | 1 | OCA2 CL E G H | 4948 | 8101 | ORPHA:79432 | Oculocutaneous albinism type 2 | | | | 121 | | |
HP:0005599 | HP:0011358 | Generalized hypopigmentation of hair | 1 | PADI3 CL E G H | 51702 | 18337 | ORPHA:1410 | Uncombable hair syndrome | | | | 3 | | |
HP:0005599 | HP:0011358 | Generalized hypopigmentation of hair | 1 | PARN CL E G H | 5073 | 8609 | ORPHA:1775 | Dyskeratosis congenita | | | | 26 | | |
HP:0005599 | HP:0011358 | Generalized hypopigmentation of hair | 1 | PARN CL E G H | 5073 | 8609 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | HP:0040282 - Frequent | | | 26 | | |
HP:0005599 | HP:0011358 | Generalized hypopigmentation of hair | 1 | PAX3 CL E G H | 5077 | 8617 | ORPHA:894 | Waardenburg syndrome type 1 | | | | 59 | | |
HP:0005599 | HP:0011365 | Patchy hypopigmentation of hair | 1 | PAX3 CL E G H | 5077 | 8617 | ORPHA:894 | Waardenburg syndrome type 1 | | | | 59 | | |
HP:0005599 | HP:0011358 | Generalized hypopigmentation of hair | 1 | PAX3 CL E G H | 5077 | 8617 | ORPHA:896 | Waardenburg syndrome type 3 | | | | 59 | | |
HP:0005599 | HP:0011365 | Patchy hypopigmentation of hair | 1 | PAX3 CL E G H | 5077 | 8617 | OMIM:193500 | Waardenburg syndrome, type 1 | | | | 59 | | |
HP:0005599 | HP:0011365 | Patchy hypopigmentation of hair | 1 | PAX3 CL E G H | 5077 | 8617 | OMIM:148820 | Waardenburg syndrome, type 3 | | | | 59 | | |
HP:0005599 | HP:0011358 | Generalized hypopigmentation of hair | 1 | PDE4D CL E G H | 5144 | 8783 | OMIM:614613 | Acrodysostosis 2 with or without hormone resistance | | | | 113 | | |
HP:0005599 | HP:0011358 | Generalized hypopigmentation of hair | 1 | PDE4D CL E G H | 5144 | 8783 | ORPHA:280651 | Acrodysostosis with multiple hormone resistance | | | | 113 | | |
HP:0005599 | HP:0011365 | Patchy hypopigmentation of hair | 1 | PEPD CL E G H | 5184 | 8840 | ORPHA:742 | Prolidase deficiency | | | | 66 | | |
HP:0005599 | HP:0011358 | Generalized hypopigmentation of hair | 1 | PIGN CL E G H | 23556 | 8967 | ORPHA:280633 | Multiple congenital anomalies-hypotonia-seizures syndrome | | | | 37 | | |
HP:0005599 | HP:0011358 | Generalized hypopigmentation of hair | 1 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:280651 | Acrodysostosis with multiple hormone resistance | | | | 134 | | |
HP:0005599 | HP:0011365 | Patchy hypopigmentation of hair | 1 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:3437 | Vogt-Koyanagi-Harada disease | | | | 3 | | |
HP:0005599 | HP:0011358 | Generalized hypopigmentation of hair | 1 | RAB27A CL E G H | 5873 | 9766 | OMIM:607624 | Griscelli syndrome, type 2 | | | | 67 | | |
HP:0005599 | HP:0011358 | Generalized hypopigmentation of hair | 1 | RMRP CL E G H | 6023 | 10031 | OMIM:250250 | Cartilage-Hair hypoplasia | | | | 37 | | |
HP:0005599 | HP:0011358 | Generalized hypopigmentation of hair | 1 | RTEL1 CL E G H | 51750 | 15888 | ORPHA:1775 | Dyskeratosis congenita | | | | 77 | | |
HP:0005599 | HP:0011358 | Generalized hypopigmentation of hair | 1 | RTEL1 CL E G H | 51750 | 15888 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | HP:0040282 - Frequent | | | 77 | | |
HP:0005599 | HP:0011365 | Patchy hypopigmentation of hair | 1 | SALL4 CL E G H | 57167 | 15924 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 86 | | |
HP:0005599 | HP:0011358 | Generalized hypopigmentation of hair | 1 | SLC17A5 CL E G H | 26503 | 10933 | OMIM:269920 | Infantile sialic acid storage disease | | | | 78 | | |
HP:0005599 | HP:0001022 | Albinism | 1 | SLC45A2 CL E G H | 51151 | 16472 | OMIM:606574 | ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA4 | | | | 42 | | |
HP:0005599 | HP:0011358 | Generalized hypopigmentation of hair | 1 | SLC45A2 CL E G H | 51151 | 16472 | ORPHA:79435 | Oculocutaneous albinism type 4 | | | | 42 | | |
HP:0005599 | HP:0001022 | Albinism | 1 | SLC45A2 CL E G H | 51151 | 16472 | ORPHA:79435 | Oculocutaneous albinism type 4 | HP:0040282 - Frequent | | | 42 | | |
HP:0005599 | HP:0011365 | Patchy hypopigmentation of hair | 1 | SNAI2 CL E G H | 6591 | 11094 | OMIM:172800 | Piebald trait | | | | 19 | | |
HP:0005599 | HP:0011365 | Patchy hypopigmentation of hair | 1 | SNAI2 CL E G H | 6591 | 11094 | ORPHA:2884 | Piebaldism | | | | 19 | | |
HP:0005599 | HP:0011365 | Patchy hypopigmentation of hair | 1 | SNAI2 CL E G H | 6591 | 11094 | ORPHA:895 | Waardenburg syndrome type 2 | | | | 19 | | |
HP:0005599 | HP:0011358 | Generalized hypopigmentation of hair | 1 | SNRPN CL E G H | 6638 | 11164 | OMIM:105830 | Angelman syndrome | | | | 37 | | |
HP:0005599 | HP:0011365 | Patchy hypopigmentation of hair | 1 | SOX10 CL E G H | 6663 | 11190 | OMIM:609136 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | | | | 61 | | |
HP:0005599 | HP:0011365 | Patchy hypopigmentation of hair | 1 | SOX10 CL E G H | 6663 | 11190 | ORPHA:895 | Waardenburg syndrome type 2 | | | | 61 | | |
HP:0005599 | HP:0011365 | Patchy hypopigmentation of hair | 1 | SOX10 CL E G H | 6663 | 11190 | OMIM:611584 | Waardenburg syndrome, type 2E | | | | 61 | | |
HP:0005599 | HP:0011365 | Patchy hypopigmentation of hair | 1 | SOX10 CL E G H | 6663 | 11190 | OMIM:613266 | Waardenburg syndrome, type 4C | | | | 61 | | |
HP:0005599 | HP:0011365 | Patchy hypopigmentation of hair | 1 | SOX10 CL E G H | 6663 | 11190 | ORPHA:897 | Waardenburg-Shah syndrome | | | | 61 | | |
HP:0005599 | HP:0011358 | Generalized hypopigmentation of hair | 1 | TAFAZZIN CL E G H | 6901 | 11577 | OMIM:302060 | Barth syndrome | | | | | | |
HP:0005599 | HP:0011358 | Generalized hypopigmentation of hair | 1 | TERC CL E G H | 7012 | 11727 | ORPHA:1775 | Dyskeratosis congenita | | | | 48 | | |
HP:0005599 | HP:0011358 | Generalized hypopigmentation of hair | 1 | TERT CL E G H | 7015 | 11730 | ORPHA:1775 | Dyskeratosis congenita | | | | 238 | | |
HP:0005599 | HP:0011365 | Patchy hypopigmentation of hair | 1 | TERT CL E G H | 7015 | 11730 | OMIM:613989 | Dyskeratosis congenita, autosomal dominant 2 | | | | 238 | | |
HP:0005599 | HP:0011358 | Generalized hypopigmentation of hair | 1 | TERT CL E G H | 7015 | 11730 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | HP:0040282 - Frequent | | | 238 | | |
HP:0005599 | HP:0011365 | Patchy hypopigmentation of hair | 1 | TFAP2A CL E G H | 7020 | 11742 | OMIM:113620 | Branchiooculofacial syndrome | | | | 12 | | |
HP:0005599 | HP:0011358 | Generalized hypopigmentation of hair | 1 | TGM3 CL E G H | 7053 | 11779 | ORPHA:1410 | Uncombable hair syndrome | | | | 1 | | |
HP:0005599 | HP:0011358 | Generalized hypopigmentation of hair | 1 | TINF2 CL E G H | 26277 | 11824 | ORPHA:1775 | Dyskeratosis congenita | | | | 60 | | |
HP:0005599 | HP:0011358 | Generalized hypopigmentation of hair | 1 | TINF2 CL E G H | 26277 | 11824 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | HP:0040282 - Frequent | | | 60 | | |
HP:0005599 | HP:0011365 | Patchy hypopigmentation of hair | 1 | TMCO1 CL E G H | 54499 | 18188 | OMIM:213980 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | | | | 6 | | |
HP:0005599 | HP:0011358 | Generalized hypopigmentation of hair | 1 | TP63 CL E G H | 8626 | 15979 | OMIM:103285 | Adult syndrome | | | | 140 | | |
HP:0005599 | HP:0011358 | Generalized hypopigmentation of hair | 1 | TP63 CL E G H | 8626 | 15979 | OMIM:604292 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | | | | 140 | | |
HP:0005599 | HP:0011358 | Generalized hypopigmentation of hair | 1 | TYMS CL E G H | 7298 | 12441 | ORPHA:1775 | Dyskeratosis congenita | | | | 1 | | |
HP:0005599 | HP:0011358 | Generalized hypopigmentation of hair | 1 | TYR CL E G H | 7299 | 12442 | OMIM:203100 | Albinism, oculocutaneous, type IA | | | | 146 | | |
HP:0005599 | HP:0001022 | Albinism | 1 | TYR CL E G H | 7299 | 12442 | OMIM:203100 | Albinism, oculocutaneous, type IA | . | | | 146 | | |
HP:0005599 | HP:0001022 | Albinism | 1 | TYR CL E G H | 7299 | 12442 | OMIM:606952 | Albinism, oculocutaneous, type IB | . | | | 146 | | |
HP:0005599 | HP:0001022 | Albinism | 1 | TYR CL E G H | 7299 | 12442 | ORPHA:79431 | Oculocutaneous albinism type 1A | HP:0040281 - Very frequent | | | 146 | | |
HP:0005599 | HP:0001022 | Albinism | 1 | TYR CL E G H | 7299 | 12442 | ORPHA:79434 | Oculocutaneous albinism type 1B | HP:0040281 - Very frequent | | | 146 | | |
HP:0005599 | HP:0011365 | Patchy hypopigmentation of hair | 1 | TYR CL E G H | 7299 | 12442 | ORPHA:895 | Waardenburg syndrome type 2 | | | | 146 | | |
HP:0005599 | HP:0001022 | Albinism | 1 | TYRP1 CL E G H | 7306 | 12450 | OMIM:203290 | Albinism, oculocutaneous, type III | . | | | 62 | | |
HP:0005599 | HP:0011358 | Generalized hypopigmentation of hair | 1 | TYRP1 CL E G H | 7306 | 12450 | ORPHA:79433 | Oculocutaneous albinism type 3 | HP:0040282 - Frequent | | | 62 | | |
HP:0005599 | HP:0011358 | Generalized hypopigmentation of hair | 1 | UBE3A CL E G H | 7337 | 12496 | OMIM:105830 | Angelman syndrome | | | | 278 | | |
HP:0005599 | HP:0011358 | Generalized hypopigmentation of hair | 1 | UBR1 CL E G H | 197131 | 16808 | OMIM:243800 | Johanson-Blizzard syndrome | | | | 25 | | |
HP:0005599 | HP:0011358 | Generalized hypopigmentation of hair | 1 | USB1 CL E G H | 79650 | 25792 | ORPHA:1775 | Dyskeratosis congenita | | | | 8 | | |
HP:0005599 | HP:0001022 | Albinism | 1 | WDR45 CL E G H | 11152 | 28912 | OMIM:615179 | Albinism, oculocutaneous, type V | . | | | 51 | | |
HP:0005599 | HP:0011358 | Generalized hypopigmentation of hair | 1 | WRAP53 CL E G H | 55135 | 25522 | ORPHA:1775 | Dyskeratosis congenita | | | | 40 | | |
HP:0005599 | HP:0011365 | Patchy hypopigmentation of hair | 1 | WRN CL E G H | 7486 | 12791 | ORPHA:902 | Werner syndrome | | | | 310 | | |
HP:0005599 | HP:0002286 | Fair hair | 2 | ABCA2 CL E G H | 20 | 32 | OMIM:618808 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA | | | | | | |
HP:0005599 | HP:0002286 | Fair hair | 2 | AP3B1 CL E G H | 8546 | 566 | OMIM:608233 | Hermansky-Pudlak syndrome 2 | | | | 83 | | |
HP:0005599 | HP:0002286 | Fair hair | 2 | BLOC1S5 CL E G H | 63915 | 18561 | OMIM:619172 | HERMANSKY-PUDLAK SYNDROME 11; HPS11 | | | | | | |
HP:0005599 | HP:0011364 | White hair | 2 | CTC1 CL E G H | 80169 | 26169 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 160 | | |
HP:0005599 | HP:0011364 | White hair | 2 | DKC1 CL E G H | 1736 | 2890 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 65 | | |
HP:0005599 | HP:0002218 | Silver-gray hair | 2 | DSTYK CL E G H | 25778 | 29043 | ORPHA:101003 | Autosomal recessive spastic paraplegia type 23 | HP:0040283 - Occasional | | | 13 | | |
HP:0005599 | HP:0002211 | White forelock | 2 | EDN3 CL E G H | 1908 | 3178 | OMIM:613265 | Waardenburg syndrome, type 4B | . | | | 67 | | |
HP:0005599 | HP:0002211 | White forelock | 2 | EDN3 CL E G H | 1908 | 3178 | ORPHA:897 | Waardenburg-Shah syndrome | HP:0040281 - Very frequent | | | 67 | | |
HP:0005599 | HP:0002211 | White forelock | 2 | EDNRB CL E G H | 1910 | 3180 | ORPHA:895 | Waardenburg syndrome type 2 | HP:0040282 - Frequent | | | 55 | | |
HP:0005599 | HP:0002211 | White forelock | 2 | EDNRB CL E G H | 1910 | 3180 | OMIM:277580 | Waardenburg-Shah syndrome | . | | | 55 | | |
HP:0005599 | HP:0002211 | White forelock | 2 | EDNRB CL E G H | 1910 | 3180 | ORPHA:897 | Waardenburg-Shah syndrome | HP:0040281 - Very frequent | | | 55 | | |
HP:0005599 | HP:0002290 | Poliosis | 2 | FAS CL E G H | 355 | 11920 | ORPHA:3437 | Vogt-Koyanagi-Harada disease | HP:0040281 - Very frequent | | | 59 | | |
HP:0005599 | HP:0011364 | White hair | 2 | GNPTAB CL E G H | 79158 | 29670 | ORPHA:576 | Mucolipidosis type II | HP:0040283 - Occasional | | | 240 | | |
HP:0005599 | HP:0002286 | Fair hair | 2 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | | | | 148 | | |
HP:0005599 | HP:0002286 | Fair hair | 2 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363958 | 17q21.31 microdeletion syndrome | HP:0040283 - Occasional | | | 283 | | |
HP:0005599 | HP:0002286 | Fair hair | 2 | KANSL1 CL E G H | 284058 | 24565 | OMIM:610443 | Koolen-De Vries syndrome | | | | 283 | | |
HP:0005599 | HP:0002286 | Fair hair | 2 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363965 | Koolen-De Vries syndrome due to a point mutation | HP:0040283 - Occasional | | | 283 | | |
HP:0005599 | HP:0002211 | White forelock | 2 | KIT CL E G H | 3815 | 6342 | OMIM:172800 | Piebald trait | . | | | 327 | | |
HP:0005599 | HP:0002211 | White forelock | 2 | KIT CL E G H | 3815 | 6342 | ORPHA:2884 | Piebaldism | HP:0040281 - Very frequent | | | 327 | | |
HP:0005599 | HP:0011364 | White hair | 2 | KITLG CL E G H | 4254 | 6343 | OMIM:619947 | | | | | 9 | | |
HP:0005599 | HP:0002211 | White forelock | 2 | KITLG CL E G H | 4254 | 6343 | OMIM:619947 | | | | | 9 | | |
HP:0005599 | HP:0002211 | White forelock | 2 | KITLG CL E G H | 4254 | 6343 | ORPHA:895 | Waardenburg syndrome type 2 | HP:0040282 - Frequent | | | 9 | | |
HP:0005599 | HP:0002211 | White forelock | 2 | LMNA CL E G H | 4000 | 6636 | ORPHA:79474 | Atypical Werner syndrome | HP:0040281 - Very frequent | | | 645 | | |
HP:0005599 | HP:0002286 | Fair hair | 2 | LPAR6 CL E G H | 10161 | 15520 | OMIM:278150 | Hypotrichosis 8 | . | | | 8 | | |
HP:0005599 | HP:0002218 | Silver-gray hair | 2 | LYST CL E G H | 1130 | 1968 | OMIM:214500 | Chediak-Higashi syndrome | | | | 239 | | |
HP:0005599 | HP:0011364 | White hair | 2 | MC1R CL E G H | 4157 | 6929 | ORPHA:79432 | Oculocutaneous albinism type 2 | HP:0040282 - Frequent | | | 124 | | |
HP:0005599 | HP:0002211 | White forelock | 2 | MITF CL E G H | 4286 | 7105 | ORPHA:895 | Waardenburg syndrome type 2 | HP:0040282 - Frequent | | | 91 | | |
HP:0005599 | HP:0002211 | White forelock | 2 | MITF CL E G H | 4286 | 7105 | OMIM:193510 | Waardenburg syndrome, type 2A | . | | | 91 | | |
HP:0005599 | HP:0002211 | White forelock | 2 | MITF CL E G H | 4286 | 7105 | ORPHA:897 | Waardenburg-Shah syndrome | HP:0040281 - Very frequent | | | 91 | | |
HP:0005599 | HP:0002218 | Silver-gray hair | 2 | MLPH CL E G H | 79083 | 29643 | OMIM:609227 | Griscelli syndrome, type 3 | . | | | 7 | | |
HP:0005599 | HP:0002286 | Fair hair | 2 | MOGS CL E G H | 7841 | 24862 | ORPHA:79330 | MOGS-CDG | HP:0040283 - Occasional | | | 37 | | |
HP:0005599 | HP:0011364 | White hair | 2 | MYO5A CL E G H | 4644 | 7602 | ORPHA:79476 | Griscelli syndrome type 1 | HP:0040281 - Very frequent | | | 35 | | |
HP:0005599 | HP:0002218 | Silver-gray hair | 2 | MYO5A CL E G H | 4644 | 7602 | OMIM:214450 | Griscelli syndrome, type 1 | . | | | 35 | | |
HP:0005599 | HP:0011364 | White hair | 2 | NHP2 CL E G H | 55651 | 14377 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 27 | | |
HP:0005599 | HP:0011364 | White hair | 2 | NOP10 CL E G H | 55505 | 14378 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 17 | | |
HP:0005599 | HP:0011364 | White hair | 2 | NPM1 CL E G H | 4869 | 7910 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 12 | | |
HP:0005599 | HP:0011364 | White hair | 2 | OCA2 CL E G H | 4948 | 8101 | ORPHA:79432 | Oculocutaneous albinism type 2 | HP:0040282 - Frequent | | | 121 | | |
HP:0005599 | HP:0011364 | White hair | 2 | PADI3 CL E G H | 51702 | 18337 | ORPHA:1410 | Uncombable hair syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0005599 | HP:0011364 | White hair | 2 | PARN CL E G H | 5073 | 8609 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 26 | | |
HP:0005599 | HP:0011364 | White hair | 2 | PAX3 CL E G H | 5077 | 8617 | ORPHA:894 | Waardenburg syndrome type 1 | HP:0040281 - Very frequent | | | 59 | | |
HP:0005599 | HP:0002211 | White forelock | 2 | PAX3 CL E G H | 5077 | 8617 | ORPHA:894 | Waardenburg syndrome type 1 | HP:0040281 - Very frequent | | | 59 | | |
HP:0005599 | HP:0011364 | White hair | 2 | PAX3 CL E G H | 5077 | 8617 | ORPHA:896 | Waardenburg syndrome type 3 | HP:0040282 - Frequent | | | 59 | | |
HP:0005599 | HP:0002211 | White forelock | 2 | PAX3 CL E G H | 5077 | 8617 | OMIM:193500 | Waardenburg syndrome, type 1 | . | | | 59 | | |
HP:0005599 | HP:0002211 | White forelock | 2 | PAX3 CL E G H | 5077 | 8617 | OMIM:148820 | Waardenburg syndrome, type 3 | . | | | 59 | | |
HP:0005599 | HP:0002286 | Fair hair | 2 | PDE4D CL E G H | 5144 | 8783 | OMIM:614613 | Acrodysostosis 2 with or without hormone resistance | . | | | 113 | | |
HP:0005599 | HP:0002286 | Fair hair | 2 | PDE4D CL E G H | 5144 | 8783 | ORPHA:280651 | Acrodysostosis with multiple hormone resistance | HP:0040283 - Occasional | | | 113 | | |
HP:0005599 | HP:0002211 | White forelock | 2 | PEPD CL E G H | 5184 | 8840 | ORPHA:742 | Prolidase deficiency | HP:0040282 - Frequent | | | 66 | | |
HP:0005599 | HP:0002286 | Fair hair | 2 | PIGN CL E G H | 23556 | 8967 | ORPHA:280633 | Multiple congenital anomalies-hypotonia-seizures syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0005599 | HP:0002286 | Fair hair | 2 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:280651 | Acrodysostosis with multiple hormone resistance | HP:0040283 - Occasional | | | 134 | | |
HP:0005599 | HP:0002290 | Poliosis | 2 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:3437 | Vogt-Koyanagi-Harada disease | HP:0040281 - Very frequent | | | 3 | | |
HP:0005599 | HP:0002218 | Silver-gray hair | 2 | RAB27A CL E G H | 5873 | 9766 | OMIM:607624 | Griscelli syndrome, type 2 | | | | 67 | | |
HP:0005599 | HP:0002286 | Fair hair | 2 | RMRP CL E G H | 6023 | 10031 | OMIM:250250 | Cartilage-Hair hypoplasia | . | | | 37 | | |
HP:0005599 | HP:0011364 | White hair | 2 | RTEL1 CL E G H | 51750 | 15888 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 77 | | |
HP:0005599 | HP:0002286 | Fair hair | 2 | SLC17A5 CL E G H | 26503 | 10933 | OMIM:269920 | Infantile sialic acid storage disease | . | | | 78 | | |
HP:0005599 | HP:0011364 | White hair | 2 | SLC45A2 CL E G H | 51151 | 16472 | ORPHA:79435 | Oculocutaneous albinism type 4 | HP:0040282 - Frequent | | | 42 | | |
HP:0005599 | HP:0002211 | White forelock | 2 | SNAI2 CL E G H | 6591 | 11094 | OMIM:172800 | Piebald trait | . | | | 19 | | |
HP:0005599 | HP:0002211 | White forelock | 2 | SNAI2 CL E G H | 6591 | 11094 | ORPHA:2884 | Piebaldism | HP:0040281 - Very frequent | | | 19 | | |
HP:0005599 | HP:0002211 | White forelock | 2 | SNAI2 CL E G H | 6591 | 11094 | ORPHA:895 | Waardenburg syndrome type 2 | HP:0040282 - Frequent | | | 19 | | |
HP:0005599 | HP:0002286 | Fair hair | 2 | SNRPN CL E G H | 6638 | 11164 | OMIM:105830 | Angelman syndrome | | | | 37 | | |
HP:0005599 | HP:0002211 | White forelock | 2 | SOX10 CL E G H | 6663 | 11190 | OMIM:609136 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | . | | | 61 | | |
HP:0005599 | HP:0002211 | White forelock | 2 | SOX10 CL E G H | 6663 | 11190 | ORPHA:895 | Waardenburg syndrome type 2 | HP:0040282 - Frequent | | | 61 | | |
HP:0005599 | HP:0002211 | White forelock | 2 | SOX10 CL E G H | 6663 | 11190 | OMIM:611584 | Waardenburg syndrome, type 2E | . | | | 61 | | |
HP:0005599 | HP:0002211 | White forelock | 2 | SOX10 CL E G H | 6663 | 11190 | OMIM:613266 | Waardenburg syndrome, type 4C | . | | | 61 | | |
HP:0005599 | HP:0002211 | White forelock | 2 | SOX10 CL E G H | 6663 | 11190 | ORPHA:897 | Waardenburg-Shah syndrome | HP:0040281 - Very frequent | | | 61 | | |
HP:0005599 | HP:0002286 | Fair hair | 2 | TAFAZZIN CL E G H | 6901 | 11577 | OMIM:302060 | Barth syndrome | | | | | | |
HP:0005599 | HP:0011364 | White hair | 2 | TERC CL E G H | 7012 | 11727 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 48 | | |
HP:0005599 | HP:0011364 | White hair | 2 | TERT CL E G H | 7015 | 11730 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 238 | | |
HP:0005599 | HP:0002211 | White forelock | 2 | TERT CL E G H | 7015 | 11730 | OMIM:613989 | Dyskeratosis congenita, autosomal dominant 2 | | | | 238 | | |
HP:0005599 | HP:0002211 | White forelock | 2 | TFAP2A CL E G H | 7020 | 11742 | OMIM:113620 | Branchiooculofacial syndrome | . | | | 12 | | |
HP:0005599 | HP:0011364 | White hair | 2 | TGM3 CL E G H | 7053 | 11779 | ORPHA:1410 | Uncombable hair syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0005599 | HP:0011364 | White hair | 2 | TINF2 CL E G H | 26277 | 11824 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 60 | | |
HP:0005599 | HP:0002290 | Poliosis | 2 | TMCO1 CL E G H | 54499 | 18188 | OMIM:213980 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | . | | | 6 | | |
HP:0005599 | HP:0002286 | Fair hair | 2 | TP63 CL E G H | 8626 | 15979 | OMIM:103285 | Adult syndrome | . | | | 140 | | |
HP:0005599 | HP:0002286 | Fair hair | 2 | TP63 CL E G H | 8626 | 15979 | OMIM:604292 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | . | | | 140 | | |
HP:0005599 | HP:0011364 | White hair | 2 | TYMS CL E G H | 7298 | 12441 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 1 | | |
HP:0005599 | HP:0011364 | White hair | 2 | TYR CL E G H | 7299 | 12442 | OMIM:203100 | Albinism, oculocutaneous, type IA | . | | | 146 | | |
HP:0005599 | HP:0002211 | White forelock | 2 | TYR CL E G H | 7299 | 12442 | ORPHA:895 | Waardenburg syndrome type 2 | HP:0040282 - Frequent | | | 146 | | |
HP:0005599 | HP:0002286 | Fair hair | 2 | UBE3A CL E G H | 7337 | 12496 | OMIM:105830 | Angelman syndrome | | | | 278 | | |
HP:0005599 | HP:0002286 | Fair hair | 2 | UBR1 CL E G H | 197131 | 16808 | OMIM:243800 | Johanson-Blizzard syndrome | . | | | 25 | | |
HP:0005599 | HP:0011364 | White hair | 2 | USB1 CL E G H | 79650 | 25792 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 8 | | |
HP:0005599 | HP:0011364 | White hair | 2 | WRAP53 CL E G H | 55135 | 25522 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 40 | | |
HP:0005599 | HP:0002211 | White forelock | 2 | WRN CL E G H | 7486 | 12791 | ORPHA:902 | Werner syndrome | HP:0040281 - Very frequent | | | 310 | | |