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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 20 31,718,169 31,727,217 RGD:9068941
G COLEC11 collectin subfamily member 11 JBrowse link 2A 3,529,358 3,578,280 RGD:9068941
G KRT14 keratin 14 JBrowse link 17 15,948,570 15,953,191 RGD:9068941
G MASP1 mannan binding lectin serine peptidase 1 JBrowse link 3 192,707,784 192,782,196 RGD:9068941
G MITF melanocyte inducing transcription factor JBrowse link 3 71,037,671 71,265,445 RGD:9068941
G MPV17 mitochondrial inner membrane protein MPV17 JBrowse link 2A 27,399,258 27,412,747 RGD:9068941
acanthosis nigricans term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FGFR3 fibroblast growth factor receptor 3 JBrowse link 4 1,843,780 1,858,635 RGD:9068941
G PRMT7 protein arginine methyltransferase 7 JBrowse link 16 68,081,700 68,131,907 RGD:9068941
G TBC1D4 TBC1 domain family member 4 JBrowse link 13 75,282,441 75,480,138 RGD:9068941
ADULT syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TP63 tumor protein p63 JBrowse link 3 195,172,810 195,473,085 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 49,356,994 49,385,678 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 9,609,597 9,650,069 RGD:9068941
G NRL neural retina leucine zipper JBrowse link 14 22,982,367 23,015,912 RGD:9068941
G OCA2 OCA2 melanosomal transmembrane protein JBrowse link 15 25,181,417 25,523,703 RGD:9068941
G TYR tyrosinase JBrowse link 11 87,769,989 87,888,138 RGD:9068941
G TYRP1 tyrosinase related protein 1 JBrowse link 9 12,950,831 12,996,808 RGD:9068941
Basaran Yilmaz Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GJA1 gap junction protein alpha 1 JBrowse link 6 123,348,744 123,360,887 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 10 121,469,735 121,588,815 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 regulatory subunit gamma JBrowse link X 153,869,352 153,876,677 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 15 25,181,417 25,523,703 RGD:9068941
Cafe au lait Spots, Multiple term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NF1 neurofibromin 1 JBrowse link 17 26,160,857 26,439,295 RGD:9068941
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 JBrowse link 2A 39,773,758 39,911,964 RGD:9068941
Cafe-au-Lait Spots term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GNAS GNAS complex locus JBrowse link 20 56,460,906 56,620,313 RGD:9068941
G NF1 neurofibromin 1 JBrowse link 17 26,160,857 26,439,295 RGD:9068941
G PMS2 PMS1 homolog 2, mismatch repair system component JBrowse link 7 6,175,913 6,203,094 RGD:9068941
G SPRED1 sprouty related EVH1 domain containing 1 JBrowse link 15 35,439,762 35,542,144 RGD:9068941
Cole Disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 JBrowse link 6 133,698,904 133,783,644 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 3 71,037,671 71,265,445 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 4 1,843,780 1,858,635 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 RGD:7240710
RGD:9068941
Dermatopathia Pigmentosa Reticularis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KRT14 keratin 14 JBrowse link 17 15,948,570 15,953,191 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 15 55,873,796 56,027,188 RGD:9068941
G KRT5 keratin 5 JBrowse link 12 37,021,041 37,027,162 RGD:7240710
RGD:9068941
G POFUT1 protein O-fucosyltransferase 1 JBrowse link 20 29,625,481 29,655,722 RGD:9068941
G POGLUT1 protein O-glucosyltransferase 1 JBrowse link 3 123,503,899 123,529,919 RGD:9068941
Dowling-Degos Disease 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G POFUT1 protein O-fucosyltransferase 1 JBrowse link 20 29,625,481 29,655,722 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 3 123,503,899 123,529,919 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 10 99,889,021 99,947,452 RGD:7240710
RGD:9068941
G ABCC3 ATP binding cassette subfamily C member 3 JBrowse link 17 49,623,297 49,659,318 RGD:9068941
G RDX radixin JBrowse link 11 108,921,477 109,005,557 RGD:9068941
dyschromatosis symmetrica hereditaria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADAR adenosine deaminase RNA specific JBrowse link 1 133,549,380 133,595,115 RGD:7240710
RGD:9068941
G CHRNB2 cholinergic receptor nicotinic beta 2 subunit JBrowse link 1 133,535,023 133,547,361 RGD:9068941
dyschromatosis universalis hereditaria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCB6 ATP binding cassette subfamily B member 6 (Langereis blood group) JBrowse link 2B 225,058,771 225,067,626 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 (Langereis blood group) JBrowse link 2B 225,058,771 225,067,626 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 15 52,498,202 52,584,731 RGD:9068941
Griscelli syndrome type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYO5A myosin VA JBrowse link 15 49,572,084 49,699,507 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 15 52,498,202 52,584,731 RGD:7240710
RGD:9068941
Griscelli syndrome type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MLPH melanophilin JBrowse link 2B 243,569,782 243,633,177 RGD:7240710
RGD:9068941
G MYO5A myosin VA JBrowse link 15 49,572,084 49,699,507 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 1 185,036,950 185,107,039 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 5 37,502,986 37,835,904 RGD:9068941
G AP3D1 adaptor related protein complex 3 subunit delta 1 JBrowse link 19 2,084,349 2,135,058 RGD:9068941
G BLOC1S4 biogenesis of lysosomal organelles complex 1 subunit 4 JBrowse link 4 6,787,798 6,789,100 RGD:9068941
G BLOC1S5 biogenesis of lysosomal organelles complex 1 subunit 5 JBrowse link 6 8,133,721 8,184,127 RGD:9068941
G BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 JBrowse link 15 42,862,114 42,882,321 RGD:9068941
G CCL5 C-C motif chemokine ligand 5 JBrowse link 17 21,210,798 21,219,172 RGD:9068941
G CP ceruloplasmin JBrowse link 3 153,768,362 153,817,591 RGD:9068941
G CXCR4 C-X-C motif chemokine receptor 4 JBrowse link 2B 140,185,803 140,189,626 RGD:9068941
G DTNBP1 dystrobrevin binding protein 1 JBrowse link 6 15,741,698 15,887,039 RGD:9068941
G HPS1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 JBrowse link 10 98,526,127 98,556,629 RGD:9068941
G HPS3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 JBrowse link 3 153,725,008 153,769,060 RGD:9068941
G HPS4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 JBrowse link 22 25,235,761 25,268,699 RGD:9068941
G HPS5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 JBrowse link 11 17,991,610 18,042,848 RGD:9068941
G HPS6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 JBrowse link 10 102,139,235 102,142,002 RGD:9068941
G KXD1 KxDL motif containing 1 JBrowse link 19 19,005,136 19,016,552 RGD:9068941
G RAB38 RAB38, member RAS oncogene family JBrowse link 11 86,710,358 86,772,796 RGD:9068941
G RABGGTA Rab geranylgeranyltransferase subunit alpha JBrowse link 14 23,165,254 23,171,339 RGD:9068941
G SLC7A11 solute carrier family 7 member 11 JBrowse link 4 141,841,526 141,919,678 RGD:9068941
G TRAPPC6A trafficking protein particle complex 6A JBrowse link 19 50,713,498 50,727,579 RGD:9068941
G VPS33A VPS33A core subunit of CORVET and HOPS complexes JBrowse link 12 123,200,964 123,236,132 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 19 2,084,349 2,135,058 RGD:9068941
G DTNBP1 dystrobrevin binding protein 1 JBrowse link 6 15,741,698 15,887,039 RGD:9068941
G HPS1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 JBrowse link 10 98,526,127 98,556,629 RGD:7240710
RGD:9068941
G RAB27A RAB27A, member RAS oncogene family JBrowse link 15 52,498,202 52,584,731 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 19 2,084,349 2,135,058 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 5 37,502,986 37,835,904 RGD:7240710
RGD:9068941
G AP3D1 adaptor related protein complex 3 subunit delta 1 JBrowse link 19 2,084,349 2,135,058 RGD:9068941
Hermansky-Pudlak syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CP ceruloplasmin JBrowse link 3 153,768,362 153,817,591 RGD:9068941
G HPS3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 JBrowse link 3 153,725,008 153,769,060 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 22 25,235,761 25,268,699 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 11 17,991,610 18,042,848 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 10 102,139,235 102,142,002 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 6 15,741,698 15,887,039 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 15 42,862,114 42,882,321 RGD:7240710
RGD:9068941
Heterochromia Iridis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MITF melanocyte inducing transcription factor JBrowse link 3 71,037,671 71,265,445 RGD:9068941
Hyperpigmentation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AHR aryl hydrocarbon receptor JBrowse link 7 17,278,637 17,326,171 RGD:9068941
G RPL27A ribosomal protein L27a JBrowse link 11 8,549,367 8,552,844 RGD:9068941
G SLC29A3 solute carrier family 29 member 3 JBrowse link 10 70,314,373 70,358,482 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 12 89,341,921 89,436,081 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 regulatory subunit gamma JBrowse link X 153,869,352 153,876,677 RGD:9068941
Hypopigmentation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EPG5 ectopic P-granules autophagy protein 5 homolog JBrowse link 18 42,669,223 42,788,788 RGD:9068941
G GLI3 GLI family zinc finger 3 JBrowse link 7 42,056,566 42,322,865 RGD:9068941
G RAB27A RAB27A, member RAS oncogene family JBrowse link 15 52,498,202 52,584,731 RGD:9068941
G TYR tyrosinase JBrowse link 11 87,769,989 87,888,138 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 19 7,255,444 7,411,916 RGD:7240710
RGD:9068941
Legius Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C15H15orf53 chromosome 15 C15orf53 homolog JBrowse link 15 35,880,951 35,884,357 RGD:9068941
G FAM98B family with sequence similarity 98 member B JBrowse link 15 35,638,932 35,671,206 RGD:9068941
G RASGRP1 RAS guanyl releasing protein 1 JBrowse link 15 35,672,893 35,749,621 RGD:9068941
G SPRED1 sprouty related EVH1 domain containing 1 JBrowse link 15 35,439,762 35,542,144 RGD:7240710
RGD:9068941
Lentigo term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HGF hepatocyte growth factor JBrowse link 7 87,325,741 87,396,850 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 7 145,124,291 145,327,115 RGD:9068941
G EPHA2 EPH receptor A2 JBrowse link 1 16,253,509 16,284,787 RGD:9068941
G PPP1R13L protein phosphatase 1 regulatory subunit 13 like JBrowse link 19 50,915,901 50,950,837 RGD:9068941
G PTEN phosphatase and tensin homolog JBrowse link 10 88,093,539 88,197,902 RGD:9068941
G PTPN11 protein tyrosine phosphatase non-receptor type 11 JBrowse link 12 113,412,077 113,503,762 RGD:9068941
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase JBrowse link 3 12,853,415 12,932,871 RGD:9068941
G RPL6 ribosomal protein L6 JBrowse link 12 113,398,795 113,403,247 RGD:9068941
LEOPARD Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PTPN11 protein tyrosine phosphatase non-receptor type 11 JBrowse link 12 113,412,077 113,503,762 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 3 12,853,415 12,932,871 RGD:7240710
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 7 145,124,291 145,327,115 RGD:7240710
RGD:9068941
Leukonychia Totalis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PLCD1 phospholipase C delta 1 JBrowse link 3 38,189,496 38,211,784 RGD:9068941
Melanosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALDH2 aldehyde dehydrogenase 2 family member JBrowse link 12 112,734,243 112,776,471 RGD:9068941
neonatal jaundice term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G G6PD glucose-6-phosphate dehydrogenase JBrowse link X 153,843,092 153,860,675 RGD:9068941
G NR1I2 nuclear receptor subfamily 1 group I member 2 JBrowse link 3 123,815,135 123,853,129 RGD:9068941
Neurocutaneous Melanosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NRAS NRAS proto-oncogene, GTPase JBrowse link 1 122,890,505 122,903,585 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 3 38,189,496 38,211,784 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 9,609,597 9,650,069 RGD:9068941
G SLC24A5 solute carrier family 24 member 5 JBrowse link 15 45,394,090 45,415,550 RGD:9068941
G TYR tyrosinase JBrowse link 11 87,769,989 87,888,138 RGD:7240710
RGD:9068941
G TYRP1 tyrosinase related protein 1 JBrowse link 9 12,950,831 12,996,808 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 9,609,597 9,650,069 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 3 71,037,671 71,265,445 RGD:7240710
RGD:9068941
G TYR tyrosinase JBrowse link 11 87,769,989 87,888,138 RGD:7240710
RGD:9068941
oculocutaneous albinism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AMACR alpha-methylacyl-CoA racemase JBrowse link 5 81,722,973 81,742,806 RGD:9068941
G HPS1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 JBrowse link 10 98,526,127 98,556,629 RGD:9068941
G MITF melanocyte inducing transcription factor JBrowse link 3 71,037,671 71,265,445 RGD:9068941
G OCA2 OCA2 melanosomal transmembrane protein JBrowse link 15 25,181,417 25,523,703 RGD:9068941
G SLC45A2 solute carrier family 45 member 2 JBrowse link 5 81,743,254 81,784,565 RGD:9068941
G TYR tyrosinase JBrowse link 11 87,769,989 87,888,138 RGD:9068941
G TYRP1 tyrosinase related protein 1 JBrowse link 9 12,950,831 12,996,808 RGD:9068941
Oculocutaneous Albinism Type I, Temperature-Sensitive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TYR tyrosinase JBrowse link 11 87,769,989 87,888,138 RGD:9068941
oculocutaneous albinism type IA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC100978529 myosin-7 JBrowse link 14 22,325,814 22,348,763 RGD:9068941
G TYR tyrosinase JBrowse link 11 87,769,989 87,888,138 RGD:7240710
RGD:9068941
oculocutaneous albinism type IB term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC100978529 myosin-7 JBrowse link 14 22,325,814 22,348,763 RGD:9068941
G TYR tyrosinase JBrowse link 11 87,769,989 87,888,138 RGD:7240710
RGD:9068941
oculocutaneous albinism type II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G OCA2 OCA2 melanosomal transmembrane protein JBrowse link 15 25,181,417 25,523,703 RGD:7240710
RGD:9068941
G TYRP1 tyrosinase related protein 1 JBrowse link 9 12,950,831 12,996,808 RGD:9068941
oculocutaneous albinism type III term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TYRP1 tyrosinase related protein 1 JBrowse link 9 12,950,831 12,996,808 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 13 32,009,039 32,092,463 RGD:9068941
G COL1A2 collagen type I alpha 2 chain JBrowse link 7 99,935,185 99,971,810 RGD:9068941
G LOC100978529 myosin-7 JBrowse link 14 22,325,814 22,348,763 RGD:9068941
G MED12 mediator complex subunit 12 JBrowse link X 70,443,467 70,467,178 RGD:9068941
G SLC45A2 solute carrier family 45 member 2 JBrowse link 5 81,743,254 81,784,565 RGD:7240710
RGD:9068941
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 16 89,866,884 89,917,867 RGD:9068941
Oculocutaneous Albinism Type VI term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYEF2 myelin expression factor 2 JBrowse link 15 45,412,593 45,442,003 RGD:9068941
G SLC24A5 solute carrier family 24 member 5 JBrowse link 15 45,394,090 45,415,550 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 10 74,974,055 75,747,123 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 5 97,526,828 97,639,645 RGD:7240710
RGD:9068941
G ERAP1 endoplasmic reticulum aminopeptidase 1 JBrowse link 5 97,625,811 97,799,499 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 19 1,016,829 1,042,251 RGD:9068941
G ARID3A AT-rich interaction domain 3A JBrowse link 19 904,414 948,493 RGD:9068941
G CBARP CACN subunit beta associated regulatory protein JBrowse link 19 1,212,854 1,220,108 RGD:9068941
G CFD complement factor D JBrowse link 19 830,004 831,566 RGD:9068941
G CNN2 calponin 2 JBrowse link 19 1,005,670 1,015,133 RGD:9068941
G ELANE elastase, neutrophil expressed JBrowse link 19 820,455 828,181 RGD:9068941
G GPX4 glutathione peroxidase 4 JBrowse link 19 1,082,917 1,085,538 RGD:9068941
G GRIN3B glutamate ionotropic receptor NMDA type subunit 3B JBrowse link 19 969,844 982,889 RGD:9068941
G KISS1R KISS1 receptor JBrowse link 19 889,152 891,739 RGD:9068941
G LOC100990706 rho GTPase-activating protein 45 JBrowse link 19 1,053,817 1,063,962 RGD:9068941
G LOC100991118 defensin-5 RGD:9068941
G MED16 mediator complex subunit 16 JBrowse link 19 840,896 864,857 RGD:9068941
G POLR2E RNA polymerase II subunit E JBrowse link 19 1,063,296 1,073,379 RGD:9068941
G R3HDM4 R3H domain containing 4 JBrowse link 19 868,192 874,301 RGD:9068941
G SBNO2 strawberry notch homolog 2 JBrowse link 19 1,086,385 1,161,261 RGD:9068941
G STK11 serine/threonine kinase 11 JBrowse link 19 1,188,537 1,210,677 RGD:7240710
RGD:9068941
G TMEM259 transmembrane protein 259 JBrowse link 19 982,808 994,481 RGD:9068941
G WDR18 WD repeat domain 18 JBrowse link 19 957,924 967,773 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 19 50,897,004 50,915,849 RGD:7240710
RGD:9068941
G GTF2H5 general transcription factor IIH subunit 5 JBrowse link 6 158,126,665 158,160,838 RGD:9068941
G MPLKIP M-phase specific PLK1 interacting protein JBrowse link 7 44,139,853 44,141,991 RGD:9068941
piebaldism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GLI3 GLI family zinc finger 3 JBrowse link 7 42,056,566 42,322,865 RGD:9068941
G KIT KIT proto-oncogene, receptor tyrosine kinase JBrowse link 4 75,761,946 75,844,473 RGD:7240710
RGD:9068941
G SNAI2 snail family transcriptional repressor 2 JBrowse link 8 42,727,135 42,730,736 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 15 55,873,796 56,027,188 RGD:7240710
RGD:9068941
G KRT5 keratin 5 JBrowse link 12 37,021,041 37,027,162 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 24,657,810 24,958,599 RGD:9068941
RGD:7240710
Skin/Hair/Eye Pigmentation, Variation In, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 JBrowse link 15 25,535,760 25,746,444 RGD:7240710
RGD:9068941
G IRF4 interferon regulatory factor 4 JBrowse link 6 341,637 360,492 RGD:9068941
G OCA2 OCA2 melanosomal transmembrane protein JBrowse link 15 25,181,417 25,523,703 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 11 67,438,635 67,478,106 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 9 12,950,831 12,996,808 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 15 45,412,593 45,442,003 RGD:9068941
G SLC24A5 solute carrier family 24 member 5 JBrowse link 15 45,394,090 45,415,550 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 5 81,743,254 81,784,565 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 14 92,299,467 92,471,426 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 12 89,341,921 89,436,081 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 6 341,637 360,492 RGD:9068941
Skin/Hair/Eye Pigmentation, Variation In, 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AHCY adenosylhomocysteinase JBrowse link 20 31,738,007 31,760,803 RGD:9068941
G ASIP agouti signaling protein JBrowse link 20 31,718,169 31,727,217 RGD:9068941
Terminal Osseous Dysplasia and Pigmentary Defects term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FLNA filamin A RGD:7240710
RGD:9068941
Tietz syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MITF melanocyte inducing transcription factor JBrowse link 3 71,037,671 71,265,445 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 4 75,761,946 75,844,473 RGD:9068941
vitiligo term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BACH2 BTB domain and CNC homolog 2 JBrowse link 6 91,081,381 91,212,497 RGD:9068941
G C3 complement C3 JBrowse link 19 6,629,240 6,674,786 RGD:9068941
G CASP7 caspase 7 JBrowse link 10 113,707,188 113,758,630 RGD:9068941
G CAT catalase JBrowse link 11 34,289,603 34,323,160 RGD:9068941
G CCR6 C-C motif chemokine receptor 6 JBrowse link 6 170,069,689 170,084,779 RGD:9068941
G CD44 CD44 molecule (Indian blood group) JBrowse link 11 34,985,634 35,132,900 RGD:9068941
G CD80 CD80 molecule JBrowse link 3 123,559,559 123,594,870 RGD:9068941
G CLNK cytokine dependent hematopoietic cell linker JBrowse link 4 10,209,773 10,417,418 RGD:9068941
G CLU clusterin JBrowse link 8 24,070,053 24,086,934 RGD:9068941
G COMT catechol-O-methyltransferase JBrowse link 22 18,375,434 18,402,387 RGD:9068941
G CTLA4 cytotoxic T-lymphocyte associated protein 4 JBrowse link 2B 209,239,417 209,244,498 RGD:9068941
G ESR1 estrogen receptor 1 JBrowse link 6 154,200,521 154,635,806 RGD:9068941
G FOXP1 forkhead box P1 JBrowse link 3 72,255,364 72,878,625 RGD:9068941
G HGF hepatocyte growth factor JBrowse link 7 87,325,741 87,396,850 RGD:9068941
G IFIH1 interferon induced with helicase C domain 1 JBrowse link 2B 166,928,994 166,980,170 RGD:9068941
G IFNG interferon gamma JBrowse link 12 68,448,861 68,453,829 RGD:9068941
G IKZF4 IKAROS family zinc finger 4 JBrowse link 12 33,124,994 33,155,269 RGD:9068941
G IL13 interleukin 13 JBrowse link 5 134,235,788 134,240,548 RGD:9068941
G IL17A interleukin 17A JBrowse link 6 53,004,820 53,009,074 RGD:9068941
G IL1A interleukin 1 alpha JBrowse link 2A 113,784,854 113,795,801 RGD:9068941
G IL2 interleukin 2 JBrowse link 4 125,782,563 125,787,819 RGD:9068941
G IL4 interleukin 4 JBrowse link 5 134,253,039 134,261,581 RGD:9068941
G KIF1B kinesin family member 1B JBrowse link 1 10,198,997 10,367,786 RGD:9068941
G LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain JBrowse link 6 33,353,599 33,360,284 RGD:9068941
G MBL2 mannose binding lectin 2 JBrowse link 10 51,537,129 51,543,041 RGD:9068941
G NFE2L2 nuclear factor, erythroid 2 like 2 JBrowse link 2B 182,214,116 182,248,282 RGD:9068941
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 JBrowse link 5 47,268,477 47,350,960 RGD:9068941
G PSMB9 proteasome subunit beta 9 JBrowse link 6 33,539,060 33,544,541 RGD:9068941
G PTPN22 protein tyrosine phosphatase non-receptor type 22 JBrowse link 1 123,734,511 123,790,830 RGD:9068941
G SH2B3 SH2B adaptor protein 3 JBrowse link 12 112,371,797 112,418,746 RGD:9068941
G SLA Src like adaptor JBrowse link 8 132,666,411 132,732,669 RGD:9068941
G SOD2 superoxide dismutase 2 JBrowse link 6 162,576,082 162,589,960 RGD:9068941
G TGFB1 transforming growth factor beta 1 JBrowse link 19 46,831,659 46,852,973 RGD:9068941
G TLR2 toll like receptor 2 JBrowse link 4 157,848,058 157,870,324 RGD:9068941
G TLR4 toll like receptor 4 JBrowse link 9 117,180,250 117,193,510 RGD:9068941
G TNF tumor necrosis factor JBrowse link 6 32,126,618 32,129,389 RGD:9068941
G TOB2 transducer of ERBB2, 2 JBrowse link 22 40,418,845 40,432,735 RGD:9068941
G TYR tyrosinase JBrowse link 11 87,769,989 87,888,138 RGD:9068941
G VDR vitamin D receptor JBrowse link 12 41,661,688 41,766,192 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 17 5,541,559 5,623,659 RGD:7240710
RGD:9068941
Waardenburg Syndrome Type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EDN3 endothelin 3 JBrowse link 20 57,012,926 57,038,570 RGD:9068941
G EDNRB endothelin receptor type B JBrowse link 13 78,153,026 78,177,281 RGD:9068941
G SOX10 SRY-box 10 JBrowse link 22 36,712,128 36,724,192 RGD:9068941
Waardenburg syndrome type 4A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EDNRB endothelin receptor type B JBrowse link 13 78,153,026 78,177,281 RGD:7240710
RGD:9068941
G POLR2F RNA polymerase II subunit F JBrowse link 22 36,695,818 36,709,181 RGD:9068941
G SOX10 SRY-box 10 JBrowse link 22 36,712,128 36,724,192 RGD:9068941
Waardenburg syndrome type 4B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EDN3 endothelin 3 JBrowse link 20 57,012,926 57,038,570 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 22 36,695,818 36,709,181 RGD:9068941
G SOX10 SRY-box 10 JBrowse link 22 36,712,128 36,724,192 RGD:7240710
RGD:9068941
Watson Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NF1 neurofibromin 1 JBrowse link 17 26,160,857 26,439,295 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 11 59,964,235 59,997,805 RGD:9068941
G DDB2 damage specific DNA binding protein 2 JBrowse link 11 47,714,723 47,738,761 RGD:9068941
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit JBrowse link 19 50,951,674 50,994,600 RGD:9068941
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 19 50,897,004 50,915,849 RGD:9068941
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit JBrowse link 2B 127,922,483 127,959,372 RGD:9068941
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit JBrowse link 16 14,272,417 14,304,496 RGD:9068941
G ERCC5 ERCC excision repair 5, endonuclease JBrowse link 13 103,142,508 103,173,022 RGD:9068941
G GTPBP2 GTP binding protein 2 JBrowse link 6 44,500,581 44,509,303 RGD:9068941
G KLC3 kinesin light chain 3 JBrowse link 19 50,887,900 50,898,708 RGD:9068941
G POLH DNA polymerase eta JBrowse link 6 44,462,225 44,495,078 RGD:9068941
G TERF2 telomeric repeat binding factor 2 JBrowse link 16 69,115,208 69,148,175 RGD:9068941
G TMEM43 transmembrane protein 43 JBrowse link 3 14,383,724 14,402,485 RGD:9068941
G TP53 tumor protein p53 JBrowse link 17 7,687,132 7,706,120 RGD:9068941
G XPA XPA, DNA damage recognition and repair factor JBrowse link 9 96,866,303 96,909,260 RGD:9068941
G XPC XPC complex subunit, DNA damage recognition and repair factor JBrowse link 3 14,403,958 14,437,373 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 9 96,866,303 96,909,260 RGD:9068941
RGD:7240710
G XPC XPC complex subunit, DNA damage recognition and repair factor JBrowse link 3 14,403,958 14,437,373 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 2B 127,922,483 127,959,372 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 3 14,383,724 14,402,485 RGD:9068941
G XPC XPC complex subunit, DNA damage recognition and repair factor JBrowse link 3 14,403,958 14,437,373 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 19 50,897,004 50,915,849 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 11 47,714,723 47,738,761 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 16 14,272,417 14,304,496 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 13 103,142,508 103,173,022 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 6 44,462,225 44,495,078 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 19 50,951,674 50,994,600 RGD:9068941
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit JBrowse link 16 14,272,417 14,304,496 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11034
    sensory system disease 3840
      skin disease 2025
        pigmentation disease 181
          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 + 8
          Elejalde Disease 0
          FLOTCH Syndrome 0
          Graying of Hair, Precocious 0
          Griscelli syndrome + 3
          Grouped Pigmentation of the Macula 0
          Heterochromia Iridis 1
          Hyperpigmentation + 42
          Hypopigmentation + 89
          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 + 5
          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 11034
    disease of anatomical entity 10591
      nervous system disease 8169
        sensory system disease 3840
          skin disease 2025
            pigmentation disease 181
              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 + 8
              Elejalde Disease 0
              FLOTCH Syndrome 0
              Graying of Hair, Precocious 0
              Griscelli syndrome + 3
              Grouped Pigmentation of the Macula 0
              Heterochromia Iridis 1
              Hyperpigmentation + 42
              Hypopigmentation + 89
              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 + 5
              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