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ONTOLOGY REPORT - ANNOTATIONS


Term:pigmentation disease
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Accession:DOID:10123 term browser browse the term
Definition:Diseases affecting PIGMENTATION, including SKIN PIGMENTATION.
Synonyms:exact_synonym: Incontinentia Pigmenti Achromians;   Ito Syndrome;   Pigmentation Disorder;   Pigmentation Disorders;   Schamberg Disease;   Schamberg's Disease;   Schambergs Disease
 primary_id: MESH:D010859;   RDO:0000666
For additional species annotation, visit the Alliance of Genome Resources.


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pigmentation disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ASIP agouti signaling protein JBrowse link 24 23,338,757 23,393,913 RGD:9068941
G COLEC11 collectin subfamily member 11 JBrowse link 17 2,147,679 2,180,096 RGD:9068941
G KRT14 keratin 14 JBrowse link 9 21,190,672 21,195,060 RGD:9068941
G MASP1 mannan binding lectin serine peptidase 1 JBrowse link 34 19,689,426 19,750,669 RGD:9068941
G MITF melanocyte inducing transcription factor JBrowse link 20 21,772,147 21,873,545 RGD:9068941
G MPV17 mitochondrial inner membrane protein MPV17 JBrowse link 17 21,280,523 21,290,967 RGD:9068941
acanthosis nigricans term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FGFR3 fibroblast growth factor receptor 3 JBrowse link 3 62,309,128 62,318,932 RGD:9068941
G PRMT7 protein arginine methyltransferase 7 JBrowse link 5 81,172,085 81,216,708 RGD:9068941
G SLC2A3 solute carrier family 2 member 3 JBrowse link 27 37,297,932 37,309,604 RGD:9068941
G TBC1D4 TBC1 domain family member 4 JBrowse link 22 29,109,079 29,175,357 RGD:9068941
ADULT syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TP63 tumor protein p63 JBrowse link 34 21,766,861 21,985,095 RGD:7240710
RGD:9068941
Aland Island eye disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CACNA1F calcium voltage-gated channel subunit alpha1 F JBrowse link X 42,302,971 42,327,787 RGD:7240710
RGD:9068941
Albinism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GPR143 G protein-coupled receptor 143 JBrowse link X 6,438,068 6,479,731 RGD:9068941
G NRL neural retina leucine zipper JBrowse link 8 4,086,487 4,090,373 RGD:9068941
G OCA2 OCA2 melanosomal transmembrane protein JBrowse link 3 32,361,825 32,713,631 RGD:9068941
G TYR tyrosinase JBrowse link 21 10,799,940 10,894,187 RGD:9068941
G TYRP1 tyrosinase related protein 1 JBrowse link 11 33,317,084 33,336,029 RGD:9068941
Autoimmune Disease, Susceptibility To, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FOXD3 forkhead box D3 JBrowse link 5 46,818,856 46,821,915 RGD:7240710
RGD:9068941
Basaran Yilmaz Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GJA1 gap junction protein alpha 1 JBrowse link 1 60,941,772 60,944,694 RGD:9068941
Beare-Stevenson cutis gyrata syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FGFR2 fibroblast growth factor receptor 2 JBrowse link 28 31,303,882 31,411,015 RGD:7240710
RGD:9068941
Bloch-Sulzberger syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IKBKG inhibitor of nuclear factor kappa B kinase subunit gamma JBrowse link X 122,232,052 122,253,499 RGD:7240710
RGD:9068941
Brown Oculocutaneous Albinism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G OCA2 OCA2 melanosomal transmembrane protein JBrowse link 3 32,361,825 32,713,631 RGD:9068941
Cafe au lait Spots, Multiple term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NF1 neurofibromin 1 JBrowse link 9 41,467,460 41,679,388 RGD:9068941
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 JBrowse link 17 31,007,940 31,181,569 RGD:9068941
Cafe-au-Lait Spots term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GNAS GNAS complex locus JBrowse link 24 43,643,409 43,658,641 RGD:9068941
G NF1 neurofibromin 1 JBrowse link 9 41,467,460 41,679,388 RGD:9068941
G PMS2 PMS1 homolog 2, mismatch repair system component JBrowse link 6 11,411,062 11,438,767 RGD:9068941
G SPRED1 sprouty related EVH1 domain containing 1 JBrowse link 30 5,594,327 5,716,082 RGD:9068941
Cole Disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 JBrowse link 1 251,985 322,081 RGD:7240710
RGD:9068941
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MITF melanocyte inducing transcription factor JBrowse link 20 21,772,147 21,873,545 RGD:9068941
RGD:7240710
Crouzon syndrome-acanthosis nigricans syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FGFR3 fibroblast growth factor receptor 3 JBrowse link 3 62,309,128 62,318,932 RGD:7240710
RGD:9068941
De Sanctis-Cacchione Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ERCC6 ERCC excision repair 6, chromatin remodeling factor JBrowse link 28 1,358,383 1,432,276 RGD:7240710
RGD:9068941
Dermatopathia Pigmentosa Reticularis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KRT14 keratin 14 JBrowse link 9 21,190,672 21,195,060 RGD:7240710
RGD:9068941
Dowling-Degos disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADAM10 ADAM metallopeptidase domain 10 JBrowse link 30 23,605,724 23,732,038 RGD:9068941
G KRT81 keratin 81 JBrowse link 27 2,776,693 2,782,016 RGD:7240710
RGD:9068941
G POFUT1 protein O-fucosyltransferase 1 JBrowse link 24 21,608,905 21,636,084 RGD:9068941
G POGLUT1 protein O-glucosyltransferase 1 JBrowse link 33 23,122,682 23,150,863 RGD:9068941
Dowling-Degos Disease 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G POFUT1 protein O-fucosyltransferase 1 JBrowse link 24 21,608,905 21,636,084 RGD:7240710
RGD:9068941
Dowling-Degos Disease 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G POGLUT1 protein O-glucosyltransferase 1 JBrowse link 33 23,122,682 23,150,863 RGD:7240710
RGD:9068941
Dubin-Johnson syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCC2 ATP binding cassette subfamily C member 2 JBrowse link 28 12,670,885 12,740,124 RGD:7240710
RGD:9068941
G ABCC3 ATP binding cassette subfamily C member 3 JBrowse link 9 26,551,953 26,596,330 RGD:9068941
G RDX radixin JBrowse link 5 22,555,913 22,642,822 RGD:9068941
dyschromatosis symmetrica hereditaria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADAR adenosine deaminase RNA specific JBrowse link 7 42,762,021 42,785,192 RGD:7240710
RGD:9068941
G CHRNB2 cholinergic receptor nicotinic beta 2 subunit JBrowse link 7 42,786,505 42,797,976 RGD:9068941
dyschromatosis universalis hereditaria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCB6 ATP binding cassette subfamily B member 6 JBrowse link 37 25,760,478 25,767,753 RGD:9068941
Dyschromatosis Universalis Hereditaria 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCB6 ATP binding cassette subfamily B member 6 JBrowse link 37 25,760,478 25,767,753 RGD:7240710
RGD:9068941
Griscelli syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RAB27A RAB27A, member RAS oncogene family JBrowse link 30 20,633,576 20,706,240 RGD:9068941
Griscelli syndrome type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYO5A myosin VA JBrowse link 30 17,990,521 18,122,160 RGD:7240710
RGD:9068941
Griscelli syndrome type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RAB27A RAB27A, member RAS oncogene family JBrowse link 30 20,633,576 20,706,240 RGD:7240710
RGD:9068941
Griscelli syndrome type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MLPH melanophilin JBrowse link 25 48,121,499 48,167,535 RGD:7240710
RGD:9068941
G MYO5A myosin VA JBrowse link 30 17,990,521 18,122,160 RGD:9068941
hereditary spastic paraplegia 23 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DSTYK dual serine/threonine and tyrosine protein kinase JBrowse link 38 1,669,721 1,716,407 RGD:7240710
RGD:9068941
Hermansky-Pudlak syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AP3B1 adaptor related protein complex 3 subunit beta 1 JBrowse link 3 28,481,974 28,748,095 RGD:9068941
G AP3D1 adaptor related protein complex 3 subunit delta 1 JBrowse link 20 56,893,479 56,932,460 RGD:9068941
G BLOC1S3 biogenesis of lysosomal organelles complex 1 subunit 3 JBrowse link 1 110,325,351 110,328,226 RGD:9068941
G BLOC1S4 biogenesis of lysosomal organelles complex 1 subunit 4 JBrowse link 3 58,822,405 58,823,770 RGD:9068941
G BLOC1S5 biogenesis of lysosomal organelles complex 1 subunit 5 JBrowse link 35 7,860,336 7,998,461 RGD:9068941
G BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 JBrowse link 30 11,861,119 11,949,451 RGD:9068941
G CCL5 C-C motif chemokine ligand 5 JBrowse link 9 37,817,409 37,823,852 RGD:9068941
G CP ceruloplasmin JBrowse link 23 43,969,297 44,033,226 RGD:9068941
G CXCR4 C-X-C motif chemokine receptor 4 JBrowse link 19 38,874,650 38,877,740 RGD:9068941
G DTNBP1 dystrobrevin binding protein 1 JBrowse link 35 14,738,025 14,862,609 RGD:9068941
G HPS1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 JBrowse link 28 11,547,457 11,572,248 RGD:9068941
G HPS3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 JBrowse link 23 43,939,829 43,979,446 RGD:9068941
G HPS4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 JBrowse link 26 20,131,658 20,157,532 RGD:9068941
G HPS5 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 JBrowse link 21 40,725,089 40,770,665 RGD:9068941
G HPS6 HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 JBrowse link 28 14,614,434 14,617,138 RGD:9068941
G KXD1 KxDL motif containing 1 JBrowse link 20 44,480,634 44,489,287 RGD:9068941
G RAB38 RAB38, member RAS oncogene family JBrowse link 21 11,769,924 11,823,546 RGD:9068941
G RABGGTA Rab geranylgeranyltransferase subunit alpha JBrowse link 8 4,244,731 4,250,836 RGD:9068941
G SLC7A11 solute carrier family 7 member 11 JBrowse link 19 4,289,792 4,379,060 RGD:9068941
G TRAPPC6A trafficking protein particle complex 6A JBrowse link 1 110,328,448 110,339,394 RGD:9068941
G VPS33A VPS33A core subunit of CORVET and HOPS complexes JBrowse link 26 7,090,669 7,119,913 RGD:9068941
Hermansky-Pudlak syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AP3D1 adaptor related protein complex 3 subunit delta 1 JBrowse link 20 56,893,479 56,932,460 RGD:9068941
G DTNBP1 dystrobrevin binding protein 1 JBrowse link 35 14,738,025 14,862,609 RGD:9068941
G HPS1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 JBrowse link 28 11,547,457 11,572,248 RGD:7240710
RGD:9068941
G RAB27A RAB27A, member RAS oncogene family JBrowse link 30 20,633,576 20,706,240 RGD:9068941
Hermansky-Pudlak Syndrome 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AP3D1 adaptor related protein complex 3 subunit delta 1 JBrowse link 20 56,893,479 56,932,460 RGD:9068941
RGD:7240710
Hermansky-Pudlak syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AP3B1 adaptor related protein complex 3 subunit beta 1 JBrowse link 3 28,481,974 28,748,095 RGD:7240710
RGD:9068941
G AP3D1 adaptor related protein complex 3 subunit delta 1 JBrowse link 20 56,893,479 56,932,460 RGD:9068941
Hermansky-Pudlak syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CP ceruloplasmin JBrowse link 23 43,969,297 44,033,226 RGD:9068941
G HPS3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 JBrowse link 23 43,939,829 43,979,446 RGD:7240710
RGD:9068941
Hermansky-Pudlak syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HPS4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 JBrowse link 26 20,131,658 20,157,532 RGD:7240710
RGD:9068941
Hermansky-Pudlak syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HPS5 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 JBrowse link 21 40,725,089 40,770,665 RGD:7240710
RGD:9068941
Hermansky-Pudlak syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HPS6 HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 JBrowse link 28 14,614,434 14,617,138 RGD:7240710
RGD:9068941
Hermansky-Pudlak syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DTNBP1 dystrobrevin binding protein 1 JBrowse link 35 14,738,025 14,862,609 RGD:7240710
RGD:9068941
Hermansky-Pudlak syndrome 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BLOC1S3 biogenesis of lysosomal organelles complex 1 subunit 3 JBrowse link 1 110,325,351 110,328,226 RGD:7240710
RGD:9068941
Hermansky-Pudlak syndrome 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 JBrowse link 30 11,861,119 11,949,451 RGD:7240710
RGD:9068941
Heterochromia Iridis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MITF melanocyte inducing transcription factor JBrowse link 20 21,772,147 21,873,545 RGD:9068941
Hyperpigmentation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AHR aryl hydrocarbon receptor JBrowse link 14 31,743,704 31,793,484 RGD:9068941
G RPL27A ribosomal protein L27a JBrowse link 21 32,099,792 32,102,761 RGD:9068941
G SLC29A3 solute carrier family 29 member 3 JBrowse link 4 22,094,899 22,135,066 RGD:9068941
Hyperpigmentation with or without Hypopigmentation, Familial Progressive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KITLG KIT ligand JBrowse link 15 29,591,068 29,671,985 RGD:7240710
RGD:9068941
hypomelanosis of Ito term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IKBKG inhibitor of nuclear factor kappa B kinase subunit gamma JBrowse link X 122,232,052 122,253,499 RGD:9068941
Hypopigmentation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EPG5 ectopic P-granules autophagy protein 5 homolog JBrowse link 7 45,215,232 45,318,736 RGD:9068941
G GLI3 GLI family zinc finger 3 JBrowse link 18 7,800,817 8,071,531 RGD:9068941
G MC1R melanocortin 1 receptor JBrowse link 5 63,694,296 63,695,249 RGD:9068941
G RAB27A RAB27A, member RAS oncogene family JBrowse link 30 20,633,576 20,706,240 RGD:9068941
G TYR tyrosinase JBrowse link 21 10,799,940 10,894,187 RGD:9068941
Insulin-Resistant Diabetes Mellitus, with Acanthosis Nigricans term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G INSR insulin receptor JBrowse link 20 52,017,261 52,136,061 RGD:7240710
RGD:9068941
Legius Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FAM98B family with sequence similarity 98 member B JBrowse link 30 5,802,656 5,839,256 RGD:9068941
G RASGRP1 RAS guanyl releasing protein 1 JBrowse link 30 5,840,901 5,914,804 RGD:9068941
G SPRED1 sprouty related EVH1 domain containing 1 JBrowse link 30 5,594,327 5,716,082 RGD:7240710
RGD:9068941
Lentigo term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HGF hepatocyte growth factor JBrowse link 18 21,329,688 21,410,257 RGD:9068941
LEOPARD syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BRAF B-Raf proto-oncogene, serine/threonine kinase JBrowse link 16 8,222,909 8,318,179 RGD:9068941
G EPHA2 EPH receptor A2 JBrowse link 2 81,534,130 81,561,722 RGD:9068941
G PPP1R13L protein phosphatase 1 regulatory subunit 13 like JBrowse link 1 110,149,393 110,166,029 RGD:9068941
G PTEN phosphatase and tensin homolog JBrowse link 26 37,853,148 37,913,176 RGD:9068941
G PTPN11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 26 9,989,218 10,072,245 RGD:7240710
RGD:9068941
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase JBrowse link 20 5,892,839 5,972,672 RGD:9068941
G RPL6 ribosomal protein L6 JBrowse link 26 9,970,416 9,975,897 RGD:9068941
LEOPARD SYNDROME 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BRAF B-Raf proto-oncogene, serine/threonine kinase JBrowse link 16 8,222,909 8,318,179 RGD:7240710
RGD:9068941
LEOPARD Syndrome, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase JBrowse link 20 5,892,839 5,972,672 RGD:7240710
RGD:9068941
Leukonychia Totalis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PLCD1 phospholipase C delta 1 JBrowse link 23 7,782,495 7,804,969 RGD:9068941
Melanosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALDH2 aldehyde dehydrogenase 2 family member JBrowse link 26 9,319,109 9,361,021 RGD:9068941
neonatal jaundice term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G G6PD glucose-6-phosphate dehydrogenase JBrowse link X 122,217,317 122,231,862 RGD:9068941
G NR1I2 nuclear receptor subfamily 1 group I member 2 JBrowse link 33 23,444,367 23,456,405 RGD:9068941
Neurocutaneous Melanosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NRAS NRAS proto-oncogene, GTPase JBrowse link 17 52,411,733 52,418,788 RGD:7240710
RGD:9068941
nonsyndromic congenital nail disorder 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PLCD1 phospholipase C delta 1 JBrowse link 23 7,782,495 7,804,969 RGD:7240710
RGD:9068941
ocular albinism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GPR143 G protein-coupled receptor 143 JBrowse link X 6,438,068 6,479,731 RGD:9068941
G SLC24A5 solute carrier family 24 member 5 JBrowse link 30 14,372,019 14,400,262 RGD:9068941
G TYR tyrosinase JBrowse link 21 10,799,940 10,894,187 RGD:7240710
RGD:9068941
G TYRP1 tyrosinase related protein 1 JBrowse link 11 33,317,084 33,336,029 RGD:9068941
Ocular Albinism Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GPR143 G protein-coupled receptor 143 JBrowse link X 6,438,068 6,479,731 RGD:7240710
RGD:9068941
ocular albinism with sensorineural deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MITF melanocyte inducing transcription factor JBrowse link 20 21,772,147 21,873,545 RGD:7240710
RGD:9068941
G TYR tyrosinase JBrowse link 21 10,799,940 10,894,187 RGD:7240710
RGD:9068941
oculocutaneous albinism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AMACR alpha-methylacyl-CoA racemase JBrowse link 4 73,815,438 73,836,016 RGD:9068941
G HPS1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 JBrowse link 28 11,547,457 11,572,248 RGD:9068941
G MITF melanocyte inducing transcription factor JBrowse link 20 21,772,147 21,873,545 RGD:9068941
G OCA2 OCA2 melanosomal transmembrane protein JBrowse link 3 32,361,825 32,713,631 RGD:9068941
G SLC45A2 solute carrier family 45 member 2 JBrowse link 4 73,838,684 73,868,222 RGD:9068941
G TYR tyrosinase JBrowse link 21 10,799,940 10,894,187 RGD:9068941
G TYRP1 tyrosinase related protein 1 JBrowse link 11 33,317,084 33,336,029 RGD:9068941
Oculocutaneous Albinism Type I, Temperature-Sensitive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TYR tyrosinase JBrowse link 21 10,799,940 10,894,187 RGD:9068941
oculocutaneous albinism type IA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYH7 myosin heavy chain 7 JBrowse link 8 3,660,155 3,677,650 RGD:9068941
G TYR tyrosinase JBrowse link 21 10,799,940 10,894,187 RGD:7240710
RGD:9068941
oculocutaneous albinism type IB term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYH7 myosin heavy chain 7 JBrowse link 8 3,660,155 3,677,650 RGD:9068941
G TYR tyrosinase JBrowse link 21 10,799,940 10,894,187 RGD:7240710
RGD:9068941
oculocutaneous albinism type II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MC1R melanocortin 1 receptor JBrowse link 5 63,694,296 63,695,249 RGD:7240710
RGD:9068941
G OCA2 OCA2 melanosomal transmembrane protein JBrowse link 3 32,361,825 32,713,631 RGD:7240710
RGD:9068941
RGD:12801476
G TYRP1 tyrosinase related protein 1 JBrowse link 11 33,317,084 33,336,029 RGD:9068941
oculocutaneous albinism type III term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TYRP1 tyrosinase related protein 1 JBrowse link 11 33,317,084 33,336,029 RGD:7240710
RGD:9068941
oculocutaneous albinism type IV term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BRCA2 BRCA2, DNA repair associated JBrowse link 25 7,734,450 7,797,851 RGD:9068941
G COL1A2 collagen type I alpha 2 chain JBrowse link 14 19,883,731 19,919,527 RGD:9068941
G CRYBG1 crystallin beta-gamma domain containing 1 JBrowse link 12 63,816,938 63,925,529 RGD:9068941
G MED12 mediator complex subunit 12 JBrowse link X 55,487,629 55,508,941 RGD:9068941
G MYH7 myosin heavy chain 7 JBrowse link 8 3,660,155 3,677,650 RGD:9068941
G SLC45A2 solute carrier family 45 member 2 JBrowse link 4 73,838,684 73,868,222 RGD:7240710
RGD:9068941
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 5 63,984,716 64,023,271 RGD:9068941
Oculocutaneous Albinism Type VI term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYEF2 myelin expression factor 2 JBrowse link 30 14,399,747 14,447,113 RGD:9068941
G SLC24A5 solute carrier family 24 member 5 JBrowse link 30 14,372,019 14,400,262 RGD:7240710
RGD:9068941
oculocutaneous albinism type VII term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LRMDA leucine rich melanocyte differentiation associated JBrowse link 4 25,610,656 26,636,351 RGD:7240710
RGD:9068941
PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CAST calpastatin JBrowse link 3 12,920,514 13,031,974 RGD:7240710
RGD:9068941
G ERAP1 endoplasmic reticulum aminopeptidase 1 JBrowse link 3 12,879,823 12,920,710 RGD:9068941
Peutz-Jeghers syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCA7 ATP binding cassette subfamily A member 7 JBrowse link 20 57,668,371 57,684,111 RGD:9068941
G ARHGAP45 Rho GTPase activating protein 45 JBrowse link 20 57,656,693 57,668,324 RGD:9068941
G ARID3A AT-rich interaction domain 3A JBrowse link 20 57,724,747 57,746,637 RGD:9068941
G CBARP CACN subunit beta associated regulatory protein JBrowse link 20 57,554,162 57,559,126 RGD:9068941
G CFD complement factor D JBrowse link 20 57,785,297 57,787,773 RGD:9068941
G CNN2 calponin 2 JBrowse link 20 57,684,959 57,691,621 RGD:9068941
G ELANE elastase, neutrophil expressed JBrowse link 20 57,789,044 57,790,932 RGD:9068941
G GRIN3B glutamate ionotropic receptor NMDA type subunit 3B JBrowse link 20 57,703,569 57,710,119 RGD:9068941
G KISS1R KISS1 receptor JBrowse link 20 57,756,046 57,758,940 RGD:9068941
G MED16 mediator complex subunit 16 JBrowse link 20 57,771,543 57,782,839 RGD:9068941
G POLR2E RNA polymerase II subunit E JBrowse link 20 57,649,836 57,653,661 RGD:9068941
G R3HDM4 R3H domain containing 4 JBrowse link 20 57,761,100 57,769,656 RGD:9068941
G SBNO2 strawberry notch homolog 2 JBrowse link 20 57,592,901 57,640,047 RGD:9068941
G STK11 serine/threonine kinase 11 JBrowse link 20 57,558,966 57,579,163 RGD:7240710
RGD:9068941
G TMEM259 transmembrane protein 259 JBrowse link 20 57,695,004 57,703,650 RGD:9068941
G WDR18 WD repeat domain 18 JBrowse link 20 57,712,854 57,717,988 RGD:9068941
Photosensitive Trichothiodystrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 110,173,781 110,191,612 RGD:7240710
RGD:9068941
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit JBrowse link 19 23,310,911 23,344,083 RGD:9068941
G GTF2H5 general transcription factor IIH subunit 5 JBrowse link 1 47,669,196 47,681,370 RGD:9068941
G MPLKIP M-phase specific PLK1 interacting protein JBrowse link 18 9,766,369 9,768,831 RGD:9068941
piebaldism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GLI3 GLI family zinc finger 3 JBrowse link 18 7,800,817 8,071,531 RGD:9068941
G KIT KIT proto-oncogene receptor tyrosine kinase JBrowse link 13 47,108,442 47,190,935 RGD:7240710
RGD:9068941
G SNAI2 snail family transcriptional repressor 2 JBrowse link 29 1,154,132 1,156,653 RGD:7240710
RGD:9068941
reticulate acropigmentation of Kitamura term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADAM10 ADAM metallopeptidase domain 10 JBrowse link 30 23,605,724 23,732,038 RGD:7240710
RGD:9068941
G KRT81 keratin 81 JBrowse link 27 2,776,693 2,782,016 RGD:9068941
Reticulate Pigmentary Disorder, with Systemic Manifestations term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G POLA1 DNA polymerase alpha 1, catalytic subunit JBrowse link X 20,227,808 20,537,893 RGD:9068941
RGD:7240710
Skin/Hair/Eye Pigmentation, Variation In, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IRF4 interferon regulatory factor 4 JBrowse link 35 760,367 782,314 RGD:9068941
G LOC479005 E3 ubiquitin-protein ligase HERC2 JBrowse link 3 31,723,113 31,966,061 RGD:7240710
RGD:9068941
G OCA2 OCA2 melanosomal transmembrane protein JBrowse link 3 32,361,825 32,713,631 RGD:7240710
RGD:9068941
Skin/Hair/Eye Pigmentation, Variation In, 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TPCN2 two pore segment channel 2 JBrowse link 18 48,956,833 48,984,499 RGD:9068941
Skin/Hair/Eye Pigmentation, Variation In, 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TYRP1 tyrosinase related protein 1 JBrowse link 11 33,317,084 33,336,029 RGD:7240710
RGD:9068941
Skin/Hair/Eye Pigmentation, Variation In, 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYEF2 myelin expression factor 2 JBrowse link 30 14,399,747 14,447,113 RGD:9068941
G SLC24A5 solute carrier family 24 member 5 JBrowse link 30 14,372,019 14,400,262 RGD:9068941
Skin/Hair/Eye Pigmentation, Variation In, 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLC45A2 solute carrier family 45 member 2 JBrowse link 4 73,838,684 73,868,222 RGD:9068941
Skin/Hair/Eye Pigmentation, Variation In, 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLC24A4 solute carrier family 24 member 4 JBrowse link 8 1,570,833 1,685,135 RGD:9068941
Skin/Hair/Eye Pigmentation, Variation In, 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KITLG KIT ligand JBrowse link 15 29,591,068 29,671,985 RGD:9068941
Skin/Hair/Eye Pigmentation, Variation In, 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IRF4 interferon regulatory factor 4 JBrowse link 35 760,367 782,314 RGD:9068941
Skin/Hair/Eye Pigmentation, Variation In, 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AHCY adenosylhomocysteinase JBrowse link 24 23,410,553 23,423,494 RGD:9068941
G ASIP agouti signaling protein JBrowse link 24 23,338,757 23,393,913 RGD:9068941
Terminal Osseous Dysplasia and Pigmentary Defects term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FLNA filamin A JBrowse link X 122,058,303 122,083,467 RGD:7240710
RGD:9068941
Tietz syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MITF melanocyte inducing transcription factor JBrowse link 20 21,772,147 21,873,545 RGD:7240710
RGD:9068941
urticaria pigmentosa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KIT KIT proto-oncogene receptor tyrosine kinase JBrowse link 13 47,108,442 47,190,935 RGD:9068941
vitiligo term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B9D2 B9 domain containing 2 JBrowse link 1 112,621,832 112,627,726 RGD:9068941
G BACH2 BTB domain and CNC homolog 2 JBrowse link 12 49,101,621 49,375,415 RGD:9068941
G C3 complement C3 JBrowse link 20 53,566,226 53,598,365 RGD:9068941
G CASP7 caspase 7 JBrowse link 28 24,599,866 24,630,018 RGD:9068941
G CAT catalase JBrowse link 18 33,383,005 33,422,447 RGD:9068941
G CCR6 C-C motif chemokine receptor 6 JBrowse link 1 54,932,798 54,960,646 RGD:9068941
G CD44 CD44 molecule JBrowse link 18 32,735,493 32,826,483 RGD:9068941
G CD80 CD80 molecule JBrowse link 33 23,177,136 23,208,421 RGD:9068941
G CLNK cytokine dependent hematopoietic cell linker JBrowse link 3 68,929,239 69,083,777 RGD:9068941
G CLU clusterin JBrowse link 25 29,982,811 29,999,565 RGD:9068941
G COMT catechol-O-methyltransferase JBrowse link 26 29,359,930 29,381,854 RGD:9068941
G CTLA4 cytotoxic T-lymphocyte associated protein 4 JBrowse link 37 12,647,712 12,653,874 RGD:9068941
G ESR1 estrogen receptor 1 JBrowse link 1 42,081,952 42,368,544 RGD:9068941
G FOXP1 forkhead box P1 JBrowse link 20 20,438,631 21,020,516 RGD:9068941
G HGF hepatocyte growth factor JBrowse link 18 21,329,688 21,410,257 RGD:9068941
G HLA-DRB1 MHC class II DLA DRB1 beta chain JBrowse link 12 2,151,409 2,164,564 RGD:9068941
G IFIH1 interferon induced with helicase C domain 1 JBrowse link 36 7,668,925 7,727,040 RGD:9068941
G IFNG interferon gamma JBrowse link 10 10,406,866 10,411,698 RGD:9068941
G IKZF4 IKAROS family zinc finger 4 JBrowse link 10 332,614 360,470 RGD:9068941
G IL13 interleukin 13 JBrowse link 11 20,957,870 20,961,391 RGD:9068941
G IL17A interleukin 17A JBrowse link 12 19,854,129 19,862,521 RGD:9068941
G IL1A interleukin 1 alpha JBrowse link 17 36,969,581 36,979,445 RGD:9068941
G IL2 interleukin 2 JBrowse link 19 17,750,780 17,756,394 RGD:9068941
G IL4 interleukin 4 JBrowse link 11 20,972,693 20,981,539 RGD:9068941
G KIF1B kinesin family member 1B JBrowse link 5 63,367,294 63,516,388 RGD:9068941
G LOC100856137 HLA class II histocompatibility antigen, DQ beta 2 chain JBrowse link 12 2,244,820 2,250,822 RGD:9068941
G MBL2 mannose binding lectin 2 JBrowse link 4 29,419,886 29,424,377 RGD:9068941
G MC1R melanocortin 1 receptor JBrowse link 5 63,694,296 63,695,249 RGD:9068941
G NFE2L2 nuclear factor, erythroid 2 like 2 JBrowse link 36 20,989,205 21,087,044 RGD:9068941
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 JBrowse link 2 53,447,802 53,527,563 RGD:9068941
G PSMB9 proteasome subunit beta 9 JBrowse link 12 2,432,287 2,438,920 RGD:9068941
G PTPN22 protein tyrosine phosphatase, non-receptor type 22 JBrowse link 17 51,623,628 51,683,039 RGD:9068941
G SH2B3 SH2B adaptor protein 3 JBrowse link 26 9,033,851 9,073,095 RGD:9068941
G SLA Src like adaptor JBrowse link 13 29,503,304 29,590,679 RGD:9068941
G SOD2 superoxide dismutase 2 JBrowse link 1 48,943,472 48,955,158 RGD:9068941
G TLR2 toll like receptor 2 JBrowse link 15 51,454,557 51,465,429 RGD:9068941
G TLR4 toll like receptor 4 JBrowse link 11 71,356,390 71,367,166 RGD:9068941
G TNF tumor necrosis factor JBrowse link 12 1,074,561 1,076,425 RGD:9068941
G TOB2 transducer of ERBB2, 2 JBrowse link 10 23,817,778 23,830,330 RGD:9068941
G TYR tyrosinase JBrowse link 21 10,799,940 10,894,187 RGD:9068941
G VDR vitamin D receptor JBrowse link 27 6,852,915 6,909,466 RGD:9068941
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NLRP1 NLR family pyrin domain containing 1 JBrowse link 5 31,264,554 31,299,538 RGD:7240710
RGD:9068941
Waardenburg Syndrome Type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EDN3 endothelin 3 JBrowse link 24 44,024,553 44,054,727 RGD:9068941
G EDNRB endothelin receptor type B JBrowse link 22 31,415,324 31,438,772 RGD:9068941
G SOX10 SRY-box 10 JBrowse link 10 26,680,441 26,690,530 RGD:9068941
Waardenburg syndrome type 4A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EDNRB endothelin receptor type B JBrowse link 22 31,415,324 31,438,772 RGD:7240710
RGD:9068941
G POLR2F RNA polymerase II subunit F JBrowse link 10 26,694,895 26,707,451 RGD:9068941
G SOX10 SRY-box 10 JBrowse link 10 26,680,441 26,690,530 RGD:9068941
Waardenburg syndrome type 4B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EDN3 endothelin 3 JBrowse link 24 44,024,553 44,054,727 RGD:7240710
RGD:9068941
Waardenburg syndrome type 4C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G POLR2F RNA polymerase II subunit F JBrowse link 10 26,694,895 26,707,451 RGD:9068941
G SOX10 SRY-box 10 JBrowse link 10 26,680,441 26,690,530 RGD:7240710
RGD:9068941
Watson Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NF1 neurofibromin 1 JBrowse link 9 41,467,460 41,679,388 RGD:7240710
RGD:9068941
xeroderma pigmentosum term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DDB1 damage specific DNA binding protein 1 JBrowse link 18 55,064,720 55,097,623 RGD:9068941
G DDB2 damage specific DNA binding protein 2 JBrowse link 18 42,354,201 42,378,463 RGD:9068941
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit JBrowse link 1 110,130,353 110,146,660 RGD:9068941
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 110,173,781 110,191,612 RGD:9068941
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit JBrowse link 19 23,310,911 23,344,083 RGD:9068941
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit JBrowse link 6 29,193,192 29,226,935 RGD:9068941
G ERCC5 ERCC excision repair 5, endonuclease JBrowse link 22 52,339,011 52,372,618 RGD:9068941
G GTPBP2 GTP binding protein 2 JBrowse link 12 12,073,233 12,082,630 RGD:9068941
G KLC3 kinesin light chain 3 JBrowse link 1 110,190,252 110,194,950 RGD:9068941
G POLH DNA polymerase eta JBrowse link 12 12,034,544 12,070,305 RGD:9068941
G TERF2 telomeric repeat binding factor 2 JBrowse link 5 80,278,224 80,305,315 RGD:9068941
G TMEM43 transmembrane protein 43 JBrowse link 20 4,281,815 4,298,634 RGD:9068941
G TP53 tumor protein p53 JBrowse link 5 32,561,406 32,565,149 RGD:9068941
G XPA XPA, DNA damage recognition and repair factor JBrowse link 11 54,976,978 54,996,140 RGD:9068941
G XPC XPC complex subunit, DNA damage recognition and repair factor JBrowse link 20 4,299,644 4,328,826 RGD:9068941
xeroderma pigmentosum group A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G XPA XPA, DNA damage recognition and repair factor JBrowse link 11 54,976,978 54,996,140 RGD:9068941
RGD:7240710
G XPC XPC complex subunit, DNA damage recognition and repair factor JBrowse link 20 4,299,644 4,328,826 RGD:9068941
xeroderma pigmentosum group B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit JBrowse link 19 23,310,911 23,344,083 RGD:7240710
RGD:9068941
xeroderma pigmentosum group C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TMEM43 transmembrane protein 43 JBrowse link 20 4,281,815 4,298,634 RGD:9068941
G XPC XPC complex subunit, DNA damage recognition and repair factor JBrowse link 20 4,299,644 4,328,826 RGD:7240710
RGD:9068941
xeroderma pigmentosum group D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 110,173,781 110,191,612 RGD:7240710
RGD:9068941
xeroderma pigmentosum group E term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DDB2 damage specific DNA binding protein 2 JBrowse link 18 42,354,201 42,378,463 RGD:7240710
RGD:9068941
xeroderma pigmentosum group F term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit JBrowse link 6 29,193,192 29,226,935 RGD:7240710
RGD:9068941
xeroderma pigmentosum group G term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ERCC5 ERCC excision repair 5, endonuclease JBrowse link 22 52,339,011 52,372,618 RGD:7240710
RGD:9068941
xeroderma pigmentosum variant type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G POLH DNA polymerase eta JBrowse link 12 12,034,544 12,070,305 RGD:7240710
RGD:9068941
XFE progeroid syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit JBrowse link 1 110,130,353 110,146,660 RGD:9068941
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit JBrowse link 6 29,193,192 29,226,935 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11199
    sensory system disease 3910
      skin disease 2051
        pigmentation disease 184
          ADULT syndrome 1
          Anonychia with Flexural Pigmentation 0
          Argyria 0
          BADS syndrome 0
          Basaran Yilmaz Syndrome 1
          Bloch-Sulzberger syndrome + 1
          Bullous Dystrophy, Hereditary Macular Type 0
          Cafe-au-Lait Spots + 7
          Elejalde Disease 0
          FLOTCH Syndrome 0
          Graying of Hair, Precocious 0
          Griscelli syndrome + 3
          Grouped Pigmentation of the Macula 0
          Heterochromia Iridis 1
          Hyperpigmentation + 41
          Hypopigmentation + 94
          Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 0
          Macules Hereditary Congenital Hypopigmented and Hyperpigmented 0
          Oculocerebral Hypopigmentation Syndrome Type Preus 0
          Pigmented Purpuric Eruption 0
          Red Skin Pigment Anomaly of New Guinea 0
          Reticulate Pigmentary Disorder, with Systemic Manifestations 1
          Russell-Silver Syndrome, X-Linked 0
          Skin/Hair/Eye Pigmentation, Variation In, 1 3
          Skin/Hair/Eye Pigmentation, Variation In, 10 1
          Skin/Hair/Eye Pigmentation, Variation In, 11 1
          Skin/Hair/Eye Pigmentation, Variation In, 4 2
          Skin/Hair/Eye Pigmentation, Variation In, 5 1
          Skin/Hair/Eye Pigmentation, Variation In, 6 1
          Skin/Hair/Eye Pigmentation, Variation In, 7 1
          Skin/Hair/Eye Pigmentation, Variation In, 8 1
          Skin/Hair/Eye Pigmentation, Variation In, 9 2
          Symmetric Acroleukopathy 0
          Tang Hsi Ryu Syndrome 0
          Terminal Osseous Dysplasia and Pigmentary Defects 1
          Thumb Deformity, Alopecia, Pigmentation Anomaly 0
          Waardenburg Syndrome Type 4 + 4
          White Forelock with Malformations 0
          Whyte Murphy Syndrome 0
          acanthosis nigricans + 6
          conjunctival pigmentation 0
          dyschromatosis symmetrica hereditaria 2
          dyschromatosis universalis hereditaria + 1
          hypopigmentation of eyelid 0
          neonatal jaundice + 5
          stromal corneal pigmentation 0
          urticaria pigmentosa 1
          xeroderma pigmentosum + 18
          yellow nail syndrome + 0
Path 2
Term Annotations click to browse term
  disease 11199
    disease of anatomical entity 10750
      nervous system disease 8289
        sensory system disease 3910
          skin disease 2051
            pigmentation disease 184
              ADULT syndrome 1
              Anonychia with Flexural Pigmentation 0
              Argyria 0
              BADS syndrome 0
              Basaran Yilmaz Syndrome 1
              Bloch-Sulzberger syndrome + 1
              Bullous Dystrophy, Hereditary Macular Type 0
              Cafe-au-Lait Spots + 7
              Elejalde Disease 0
              FLOTCH Syndrome 0
              Graying of Hair, Precocious 0
              Griscelli syndrome + 3
              Grouped Pigmentation of the Macula 0
              Heterochromia Iridis 1
              Hyperpigmentation + 41
              Hypopigmentation + 94
              Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 0
              Macules Hereditary Congenital Hypopigmented and Hyperpigmented 0
              Oculocerebral Hypopigmentation Syndrome Type Preus 0
              Pigmented Purpuric Eruption 0
              Red Skin Pigment Anomaly of New Guinea 0
              Reticulate Pigmentary Disorder, with Systemic Manifestations 1
              Russell-Silver Syndrome, X-Linked 0
              Skin/Hair/Eye Pigmentation, Variation In, 1 3
              Skin/Hair/Eye Pigmentation, Variation In, 10 1
              Skin/Hair/Eye Pigmentation, Variation In, 11 1
              Skin/Hair/Eye Pigmentation, Variation In, 4 2
              Skin/Hair/Eye Pigmentation, Variation In, 5 1
              Skin/Hair/Eye Pigmentation, Variation In, 6 1
              Skin/Hair/Eye Pigmentation, Variation In, 7 1
              Skin/Hair/Eye Pigmentation, Variation In, 8 1
              Skin/Hair/Eye Pigmentation, Variation In, 9 2
              Symmetric Acroleukopathy 0
              Tang Hsi Ryu Syndrome 0
              Terminal Osseous Dysplasia and Pigmentary Defects 1
              Thumb Deformity, Alopecia, Pigmentation Anomaly 0
              Waardenburg Syndrome Type 4 + 4
              White Forelock with Malformations 0
              Whyte Murphy Syndrome 0
              acanthosis nigricans + 6
              conjunctival pigmentation 0
              dyschromatosis symmetrica hereditaria 2
              dyschromatosis universalis hereditaria + 1
              hypopigmentation of eyelid 0
              neonatal jaundice + 5
              stromal corneal pigmentation 0
              urticaria pigmentosa 1
              xeroderma pigmentosum + 18
              yellow nail syndrome + 0
paths to the root