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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 NW_004955422 27,021,810 27,150,339 RGD:9068941
G Colec11 collectin subfamily member 11 JBrowse link NW_004955487 3,778,901 3,789,852 RGD:9068941
G Masp1 mannan binding lectin serine peptidase 1 JBrowse link NW_004955420 20,540,266 20,605,830 RGD:9068941
G Mitf melanocyte inducing transcription factor JBrowse link NW_004955421 17,948,117 18,157,379 RGD:9068941
G Mpv17 mitochondrial inner membrane protein MPV17 JBrowse link NW_004955469 9,279,540 9,292,012 RGD:9068941
acanthosis nigricans term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link NW_004955514 1,030,244 1,038,590 RGD:9068941
G Prmt7 protein arginine methyltransferase 7 JBrowse link NW_004955484 8,299,427 8,352,465 RGD:9068941
G Tbc1d4 TBC1 domain family member 4 JBrowse link NW_004955404 31,516,727 31,691,414 RGD:9068941
ADULT syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tp63 tumor protein p63 JBrowse link NW_004955420 18,178,639 18,384,786 RGD:9068941
RGD:7240710
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 NW_004955543 692,035 717,364 RGD:9068941
RGD:7240710
Albinism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gpr143 G protein-coupled receptor 143 JBrowse link NW_004955499 7,900,276 7,953,847 RGD:9068941
G Nrl neural retina leucine zipper JBrowse link NW_004955409 36,279,996 36,313,824 RGD:9068941
G Oca2 OCA2 melanosomal transmembrane protein JBrowse link NW_004955533 1,522,878 1,796,673 RGD:9068941
G Tyr tyrosinase JBrowse link NW_004955414 4,244,035 4,314,001 RGD:9068941
G Tyrp1 tyrosinase related protein 1 JBrowse link NW_004955434 15,913,208 15,932,193 RGD:9068941
Basaran Yilmaz Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gja1 gap junction protein alpha 1 JBrowse link NW_004955436 3,612,533 3,618,095 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 NW_004955551 2,321,190 2,427,000 RGD:9068941
RGD:7240710
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 NW_004955580 1,053,823 1,069,802 RGD:9068941
RGD:7240710
Brown Oculocutaneous Albinism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Oca2 OCA2 melanosomal transmembrane protein JBrowse link NW_004955533 1,522,878 1,796,673 RGD:9068941
Cafe au lait Spots, Multiple term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nf1 neurofibromin 1 JBrowse link NW_004955481 6,145,855 6,404,179 RGD:9068941
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 JBrowse link NW_004955441 6,649,895 6,724,271 RGD:9068941
Cafe-au-Lait Spots term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nf1 neurofibromin 1 JBrowse link NW_004955481 6,145,855 6,404,179 RGD:9068941
G Pms2 PMS1 homolog 2, mismatch repair system component JBrowse link NW_004955460 13,762,854 13,791,462 RGD:9068941
G Spred1 sprouty related EVH1 domain containing 1 JBrowse link NW_004955416 5,288,779 5,376,861 RGD:9068941
Cole Disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 JBrowse link NW_004955436 12,416,147 12,477,214 RGD:9068941
RGD:7240710
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 NW_004955421 17,948,117 18,157,379 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 NW_004955514 1,030,244 1,038,590 RGD:9068941
RGD:7240710
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 NW_004955556 745,175 812,215 RGD:9068941
RGD:7240710
Dowling-Degos disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adam10 ADAM metallopeptidase domain 10 JBrowse link NW_004955450 15,853,372 15,927,966 RGD:9068941
G Krt5 keratin 5 JBrowse link NW_004955547 2,926,154 2,931,954 RGD:9068941
RGD:7240710
G Pofut1 protein O-fucosyltransferase 1 JBrowse link NW_004955422 28,809,901 28,833,186 RGD:9068941
G Poglut1 protein O-glucosyltransferase 1 JBrowse link NW_004955427 19,188,512 19,206,050 RGD:9068941
Dowling-Degos Disease 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pofut1 protein O-fucosyltransferase 1 JBrowse link NW_004955422 28,809,901 28,833,186 RGD:9068941
RGD:7240710
Dowling-Degos Disease 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Poglut1 protein O-glucosyltransferase 1 JBrowse link NW_004955427 19,188,512 19,206,050 RGD:9068941
RGD:7240710
Dubin-Johnson syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcc2 ATP binding cassette subfamily C member 2 JBrowse link NW_004955507 5,724,788 5,791,281 RGD:9068941
RGD:7240710
G Abcc3 ATP binding cassette subfamily C member 3 JBrowse link NW_004955451 11,087,246 11,130,108 RGD:9068941
G Rdx radixin JBrowse link NW_004955412 12,100,436 12,184,444 RGD:9068941
dyschromatosis symmetrica hereditaria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adar adenosine deaminase RNA specific JBrowse link NW_004955545 1,078,319 1,106,938 RGD:9068941
RGD:7240710
G Chrnb2 cholinergic receptor nicotinic beta 2 subunit JBrowse link NW_004955545 1,065,457 1,077,056 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 NW_004955453 14,215,104 14,222,338 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 NW_004955453 14,215,104 14,222,338 RGD:9068941
RGD:7240710
Griscelli syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rab27a RAB27A, member RAS oncogene family JBrowse link NW_004955409 588,725 621,874 RGD:9068941
Griscelli syndrome type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myo5a myosin VA JBrowse link NW_004955409 2,409,503 2,530,539 RGD:9068941
RGD:7240710
Griscelli syndrome type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rab27a RAB27A, member RAS oncogene family JBrowse link NW_004955409 588,725 621,874 RGD:9068941
RGD:7240710
Griscelli syndrome type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mlph melanophilin JBrowse link NW_004955542 2,769,709 2,807,768 RGD:9068941
RGD:7240710
G Myo5a myosin VA JBrowse link NW_004955409 2,409,503 2,530,539 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 NW_004955406 40,922,972 40,971,433 RGD:9068941
RGD:7240710
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 NW_004955425 22,792,616 23,051,509 RGD:9068941
G Ap3d1 adaptor related protein complex 3 subunit delta 1 JBrowse link NW_004955495 5,972,177 6,012,525 RGD:9068941
G Bloc1s3 biogenesis of lysosomal organelles complex 1 subunit 3 JBrowse link NW_004955555 2,183,752 2,186,154 RGD:9068941
G Bloc1s4 biogenesis of lysosomal organelles complex 1 subunit 4 JBrowse link NW_004955514 3,698,644 3,699,227 RGD:9068941
G Bloc1s5 biogenesis of lysosomal organelles complex 1 subunit 5 JBrowse link NW_004955465 5,910,095 5,943,996 RGD:9068941
G Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 JBrowse link NW_004955409 7,902,125 7,913,966 RGD:9068941
G Ccl5 C-C motif chemokine ligand 5 JBrowse link NW_004955481 10,293,758 10,301,118 RGD:9068941
G Cp ceruloplasmin JBrowse link NW_004955448 470,063 522,909 RGD:9068941
G Cxcr4 C-X-C motif chemokine receptor 4 JBrowse link NW_004955440 3,456,165 3,460,024 RGD:9068941
G Dtnbp1 dystrobrevin binding protein 1 JBrowse link NW_004955590 276,143 382,812 RGD:9068941
G Hps1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 JBrowse link NW_004955507 4,408,428 4,433,219 RGD:9068941
G Hps3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 JBrowse link NW_004955448 438,152 465,955 RGD:9068941
G Hps4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 JBrowse link NW_004955455 1,048,946 1,076,097 RGD:9068941
G Hps5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 JBrowse link NW_004955414 32,992,669 33,028,620 RGD:9068941
G Hps6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 JBrowse link NW_004955485 8,270,997 8,273,060 RGD:9068941
G Kxd1 KxDL motif containing 1 JBrowse link NW_004955524 3,010,997 3,018,309 RGD:9068941
G Rab38 RAB38, member RAS oncogene family JBrowse link NW_004955414 5,158,860 5,214,108 RGD:9068941
G Slc7a11 solute carrier family 7 member 11 JBrowse link NW_004955428 5,238,460 5,309,085 RGD:9068941
G Vps33a VPS33A core subunit of CORVET and HOPS complexes JBrowse link NW_004955482 6,333,282 6,352,369 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 NW_004955495 5,972,177 6,012,525 RGD:9068941
G Dtnbp1 dystrobrevin binding protein 1 JBrowse link NW_004955590 276,143 382,812 RGD:9068941
G Hps1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 JBrowse link NW_004955507 4,408,428 4,433,219 RGD:9068941
RGD:7240710
G Rab27a RAB27A, member RAS oncogene family JBrowse link NW_004955409 588,725 621,874 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 NW_004955495 5,972,177 6,012,525 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 NW_004955425 22,792,616 23,051,509 RGD:9068941
RGD:7240710
G Ap3d1 adaptor related protein complex 3 subunit delta 1 JBrowse link NW_004955495 5,972,177 6,012,525 RGD:9068941
Hermansky-Pudlak syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cp ceruloplasmin JBrowse link NW_004955448 470,063 522,909 RGD:9068941
G Hps3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 JBrowse link NW_004955448 438,152 465,955 RGD:9068941
RGD:7240710
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 NW_004955455 1,048,946 1,076,097 RGD:9068941
RGD:7240710
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 NW_004955414 32,992,669 33,028,620 RGD:9068941
RGD:7240710
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 NW_004955485 8,270,997 8,273,060 RGD:9068941
RGD:7240710
Hermansky-Pudlak syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dtnbp1 dystrobrevin binding protein 1 JBrowse link NW_004955590 276,143 382,812 RGD:9068941
RGD:7240710
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 NW_004955555 2,183,752 2,186,154 RGD:9068941
RGD:7240710
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 NW_004955409 7,902,125 7,913,966 RGD:9068941
RGD:7240710
Heterochromia Iridis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mitf melanocyte inducing transcription factor JBrowse link NW_004955421 17,948,117 18,157,379 RGD:9068941
Hyperpigmentation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ahr aryl hydrocarbon receptor JBrowse link NW_004955410 20,428,531 20,459,482 RGD:9068941
G Rpl27a ribosomal protein L27a JBrowse link NW_004955414 24,461,997 24,464,828 RGD:9068941
G Slc29a3 solute carrier family 29 member 3 JBrowse link NW_004955437 20,072,915 20,108,342 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 NW_004955405 25,816,137 25,969,006 RGD:9068941
RGD:7240710
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 NW_004955580 1,053,823 1,069,802 RGD:9068941
Hypopigmentation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Epg5 ectopic P-granules autophagy protein 5 homolog JBrowse link NW_004955402 31,422,848 31,532,189 RGD:9068941
G Gli3 GLI family zinc finger 3 JBrowse link NW_004955460 1,528,457 1,805,584 RGD:9068941
G Rab27a RAB27A, member RAS oncogene family JBrowse link NW_004955409 588,725 621,874 RGD:9068941
G Tyr tyrosinase JBrowse link NW_004955414 4,244,035 4,314,001 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 NW_004955563 1,867,400 2,011,845 RGD:9068941
RGD:7240710
Legius Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fam98b family with sequence similarity 98 member B JBrowse link NW_004955416 5,457,232 5,486,744 RGD:9068941
G Rasgrp1 RAS guanyl releasing protein 1 JBrowse link NW_004955416 5,494,030 5,561,608 RGD:9068941
G Spred1 sprouty related EVH1 domain containing 1 JBrowse link NW_004955416 5,288,779 5,376,861 RGD:9068941
RGD:7240710
Lentigo term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hgf hepatocyte growth factor JBrowse link NW_004955410 4,114,280 4,181,953 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 NW_004955494 2,567,238 2,712,708 RGD:9068941
G Epha2 EPH receptor A2 JBrowse link NW_004955527 2,120,447 2,151,932 RGD:9068941
G Ppp1r13l protein phosphatase 1 regulatory subunit 13 like JBrowse link NW_004955555 2,373,088 2,390,973 RGD:9068941
G Pten phosphatase and tensin homolog JBrowse link NW_004955425 5,007,811 5,091,829 RGD:9068941
G Ptpn11 protein tyrosine phosphatase non-receptor type 11 JBrowse link NW_004955482 8,934,734 9,031,230 RGD:9068941
RGD:7240710
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase JBrowse link NW_004955429 17,980,956 18,049,723 RGD:9068941
G Rpl6 ribosomal protein L6 JBrowse link NW_004955482 8,917,777 8,923,150 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 NW_004955494 2,567,238 2,712,708 RGD:9068941
RGD:7240710
LEOPARD Syndrome, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase JBrowse link NW_004955429 17,980,956 18,049,723 RGD:9068941
RGD:7240710
Leukonychia Totalis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plcd1 phospholipase C delta 1 JBrowse link NW_004955421 4,856,366 4,880,309 RGD:9068941
Melanosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh2 aldehyde dehydrogenase 2 family member JBrowse link NW_004955482 8,352,569 8,383,097 RGD:9068941
neonatal jaundice term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G G6pd glucose-6-phosphate dehydrogenase JBrowse link NW_004955580 1,045,294 1,058,129 RGD:9068941
G Nr1i2 nuclear receptor subfamily 1 group I member 2 JBrowse link NW_004955427 19,459,936 19,487,276 RGD:9068941
Neurocutaneous Melanosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nras NRAS proto-oncogene, GTPase JBrowse link NW_004955435 18,001,517 18,009,105 RGD:9068941
RGD:7240710
nonsyndromic congenital nail disorder 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plcd1 phospholipase C delta 1 JBrowse link NW_004955421 4,856,366 4,880,309 RGD:9068941
RGD:7240710
ocular albinism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gpr143 G protein-coupled receptor 143 JBrowse link NW_004955499 7,900,276 7,953,847 RGD:9068941
G Slc24a5 solute carrier family 24 member 5 JBrowse link NW_004955409 5,747,624 5,768,122 RGD:9068941
G Tyr tyrosinase JBrowse link NW_004955414 4,244,035 4,314,001 RGD:9068941
RGD:7240710
G Tyrp1 tyrosinase related protein 1 JBrowse link NW_004955434 15,913,208 15,932,193 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 NW_004955499 7,900,276 7,953,847 RGD:9068941
RGD:7240710
ocular albinism with sensorineural deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mitf melanocyte inducing transcription factor JBrowse link NW_004955421 17,948,117 18,157,379 RGD:9068941
RGD:7240710
G Tyr tyrosinase JBrowse link NW_004955414 4,244,035 4,314,001 RGD:9068941
RGD:7240710
oculocutaneous albinism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Amacr alpha-methylacyl-CoA racemase JBrowse link NW_004955426 19,570,179 19,580,920 RGD:9068941
G Hps1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 JBrowse link NW_004955507 4,408,428 4,433,219 RGD:9068941
G Mitf melanocyte inducing transcription factor JBrowse link NW_004955421 17,948,117 18,157,379 RGD:9068941
G Oca2 OCA2 melanosomal transmembrane protein JBrowse link NW_004955533 1,522,878 1,796,673 RGD:9068941
G Slc45a2 solute carrier family 45 member 2 JBrowse link NW_004955426 19,498,942 19,530,628 RGD:9068941
G Tyr tyrosinase JBrowse link NW_004955414 4,244,035 4,314,001 RGD:9068941
G Tyrp1 tyrosinase related protein 1 JBrowse link NW_004955434 15,913,208 15,932,193 RGD:9068941
Oculocutaneous Albinism Type I, Temperature-Sensitive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tyr tyrosinase JBrowse link NW_004955414 4,244,035 4,314,001 RGD:9068941
oculocutaneous albinism type IA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tyr tyrosinase JBrowse link NW_004955414 4,244,035 4,314,001 RGD:9068941
RGD:7240710
oculocutaneous albinism type IB term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tyr tyrosinase JBrowse link NW_004955414 4,244,035 4,314,001 RGD:9068941
RGD:7240710
oculocutaneous albinism type II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Oca2 OCA2 melanosomal transmembrane protein JBrowse link NW_004955533 1,522,878 1,796,673 RGD:9068941
RGD:7240710
G Tyrp1 tyrosinase related protein 1 JBrowse link NW_004955434 15,913,208 15,932,193 RGD:9068941
oculocutaneous albinism type III term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tyrp1 tyrosinase related protein 1 JBrowse link NW_004955434 15,913,208 15,932,193 RGD:9068941
RGD:7240710
oculocutaneous albinism type IV term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brca2 BRCA2 DNA repair associated JBrowse link NW_004955431 13,449,287 13,526,878 RGD:9068941
G Col1a2 collagen type I alpha 2 chain JBrowse link NW_004955432 11,127,961 11,164,145 RGD:9068941
G Crybg1 crystallin beta-gamma domain containing 1 JBrowse link NW_004955411 31,781,954 31,898,017 RGD:9068941
G Med12 mediator complex subunit 12 JBrowse link NW_004955475 10,687,168 10,710,286 RGD:9068941
G Slc45a2 solute carrier family 45 member 2 JBrowse link NW_004955426 19,498,942 19,530,628 RGD:9068941
RGD:7240710
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link NW_004955541 3,092,968 3,141,157 RGD:9068941
Oculocutaneous Albinism Type VI term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myef2 myelin expression factor 2 JBrowse link NW_004955409 5,713,495 5,747,528 RGD:9068941
G Slc24a5 solute carrier family 24 member 5 JBrowse link NW_004955409 5,747,624 5,768,122 RGD:9068941
RGD:7240710
oculocutaneous albinism type VII term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrmda leucine rich melanocyte differentiation associated JBrowse link NW_004955437 15,678,397 16,173,214 RGD:9068941
RGD:7240710
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 NW_004955418 15,859,951 15,974,141 RGD:9068941
RGD:7240710
G Erap1 endoplasmic reticulum aminopeptidase 1 JBrowse link NW_004955418 15,827,560 15,859,720 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 NW_004955495 6,818,002 6,838,177 RGD:9068941
G Arhgap45 Rho GTPase activating protein 45 JBrowse link NW_004955495 6,800,988 6,815,941 RGD:9068941
G Arid3a AT-rich interaction domain 3A JBrowse link NW_004955495 6,884,077 6,912,625 RGD:9068941
G Cbarp CACN subunit beta associated regulatory protein JBrowse link NW_004955495 6,671,719 6,678,338 RGD:9068941
G Cfd complement factor D JBrowse link NW_004955495 6,955,612 6,961,317 RGD:9068941
G Cnn2 calponin 2 JBrowse link NW_004955495 6,839,436 6,848,208 RGD:9068941
G Gpx4 glutathione peroxidase 4 JBrowse link NW_004955495 6,767,969 6,772,256 RGD:9068941
G Grin3b glutamate ionotropic receptor NMDA type subunit 3B JBrowse link NW_004955495 6,859,909 6,866,297 RGD:9068941
G Kiss1r KISS1 receptor JBrowse link NW_004955495 6,918,632 6,921,891 RGD:9068941
G Med16 mediator complex subunit 16 JBrowse link NW_004955495 6,939,084 6,955,885 RGD:9068941
G Polr2e RNA polymerase II subunit E JBrowse link NW_004955495 6,779,557 6,788,241 RGD:9068941
G R3hdm4 R3H domain containing 4 JBrowse link NW_004955495 6,926,619 6,936,128 RGD:9068941
G Sbno2 strawberry notch homolog 2 JBrowse link NW_004955495 6,709,190 6,770,816 RGD:9068941
G Stk11 serine/threonine kinase 11 JBrowse link NW_004955495 6,678,195 6,699,408 RGD:9068941
RGD:7240710
G Tmem259 transmembrane protein 259 JBrowse link NW_004955495 6,856,609 6,859,948 RGD:9068941
G Wdr18 WD repeat domain 18 JBrowse link NW_004955495 6,869,543 6,877,058 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 NW_004955555 2,355,005 2,369,599 RGD:9068941
RGD:7240710
G Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit JBrowse link NW_004955459 3,210,936 3,238,401 RGD:9068941
G Gtf2h5 general transcription factor IIH subunit 5 JBrowse link NW_004955439 4,226,530 4,234,390 RGD:9068941
G Mplkip M-phase specific PLK1 interacting protein JBrowse link NW_004955460 3,560,046 3,562,002 RGD:9068941
piebaldism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gli3 GLI family zinc finger 3 JBrowse link NW_004955460 1,528,457 1,805,584 RGD:9068941
G Kit KIT proto-oncogene, receptor tyrosine kinase JBrowse link NW_004955447 16,149,014 16,226,151 RGD:9068941
RGD:7240710
G Snai2 snail family transcriptional repressor 2 JBrowse link NW_004955454 8,759,860 8,763,603 RGD:9068941
RGD:7240710
reticulate acropigmentation of Kitamura term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adam10 ADAM metallopeptidase domain 10 JBrowse link NW_004955450 15,853,372 15,927,966 RGD:9068941
RGD:7240710
G Krt5 keratin 5 JBrowse link NW_004955547 2,926,154 2,931,954 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 NW_004955509 5,007,385 5,319,683 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 NW_004955533 1,304,675 1,489,041 RGD:9068941
RGD:7240710
G Irf4 interferon regulatory factor 4 JBrowse link NW_004955465 12,497,534 12,512,529 RGD:9068941
G Oca2 OCA2 melanosomal transmembrane protein JBrowse link NW_004955533 1,522,878 1,796,673 RGD:9068941
RGD:7240710
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 NW_004955422 16,899,730 16,923,962 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 NW_004955434 15,913,208 15,932,193 RGD:9068941
RGD:7240710
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 NW_004955409 5,713,495 5,747,528 RGD:9068941
G Slc24a5 solute carrier family 24 member 5 JBrowse link NW_004955409 5,747,624 5,768,122 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 NW_004955426 19,498,942 19,530,628 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 NW_004955438 14,609,779 14,765,516 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 NW_004955405 25,816,137 25,969,006 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 NW_004955465 12,497,534 12,512,529 RGD:9068941
Skin/Hair/Eye Pigmentation, Variation In, 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ahcy adenosylhomocysteinase JBrowse link NW_004955422 26,992,295 27,013,100 RGD:9068941
G Asip agouti signaling protein JBrowse link NW_004955422 27,021,810 27,150,339 RGD:9068941
Terminal Osseous Dysplasia and Pigmentary Defects term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Flna filamin A JBrowse link NW_004955580 874,233 895,172 RGD:9068941
RGD:7240710
Tietz syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mitf melanocyte inducing transcription factor JBrowse link NW_004955421 17,948,117 18,157,379 RGD:9068941
RGD:7240710
urticaria pigmentosa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kit KIT proto-oncogene, receptor tyrosine kinase JBrowse link NW_004955447 16,149,014 16,226,151 RGD:9068941
vitiligo term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bach2 BTB domain and CNC homolog 2 JBrowse link NW_004955411 16,607,546 16,947,359 RGD:9068941
G C3 complement C3 JBrowse link NW_004955495 2,796,601 2,824,233 RGD:9068941
G Casp7 caspase 7 JBrowse link NW_004955431 18,685,408 18,723,221 RGD:9068941
G Cat catalase JBrowse link NW_004955422 11,783,973 11,826,970 RGD:9068941
G Ccr6 C-C motif chemokine receptor 6 JBrowse link NW_004955439 14,921,524 14,949,493 RGD:9068941
G Cd44 CD44 molecule (Indian blood group) JBrowse link NW_004955422 11,106,061 11,189,951 RGD:9068941
G Cd80 CD80 molecule JBrowse link NW_004955427 19,237,251 19,274,001 RGD:9068941
G Clnk cytokine dependent hematopoietic cell linker JBrowse link NW_004955549 2,166,891 2,375,902 RGD:9068941
G Clu clusterin JBrowse link NW_004955403 50,160,598 50,175,876 RGD:9068941
G Comt catechol-O-methyltransferase JBrowse link NW_004955442 18,130,282 18,152,153 RGD:9068941
G Ctla4 cytotoxic T-lymphocyte associated protein 4 JBrowse link NW_004955457 11,028,707 11,034,898 RGD:9068941
G Esr1 estrogen receptor 1 JBrowse link NW_004955439 9,588,631 9,953,606 RGD:9068941
G Foxp1 forkhead box P1 JBrowse link NW_004955421 16,595,445 17,075,923 RGD:9068941
G Hgf hepatocyte growth factor JBrowse link NW_004955410 4,114,280 4,181,953 RGD:9068941
G Ifih1 interferon induced with helicase C domain 1 JBrowse link NW_004955449 11,538,869 11,596,502 RGD:9068941
G Ifng interferon gamma JBrowse link NW_004955458 14,643,333 14,648,020 RGD:9068941
G Ikzf4 IKAROS family zinc finger 4 JBrowse link NW_004955458 3,589,865 3,627,154 RGD:9068941
G Il13 interleukin 13 JBrowse link NW_004955408 4,046,406 4,049,795 RGD:9068941
G Il17a interleukin 17A JBrowse link NW_004955411 5,896,435 5,899,911 RGD:9068941
G Il1a interleukin 1 alpha JBrowse link NW_004955470 1,527,710 1,538,418 RGD:9068941
G Il2 interleukin 2 JBrowse link NW_004955428 18,163,010 18,168,157 RGD:9068941
G Il4 interleukin 4 JBrowse link NW_004955408 4,058,052 4,065,999 RGD:9068941
G Kif1b kinesin family member 1B JBrowse link NW_004955486 3,366,791 3,503,845 RGD:9068941
G Mbl2 mannose binding lectin 2 JBrowse link NW_004955425 7,704,371 7,708,951 RGD:9068941
G Nfe2l2 nuclear factor, erythroid 2 like 2 JBrowse link NW_004955403 19,510,122 19,536,428 RGD:9068941
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 JBrowse link NW_004955446 1,020,707 1,098,327 RGD:9068941
G Psmb9 proteasome subunit beta 9 JBrowse link NW_004955437 1,513,425 1,516,164 RGD:9068941
G Ptpn22 protein tyrosine phosphatase non-receptor type 22 JBrowse link NW_004955435 17,082,762 17,139,067 RGD:9068941
G Sh2b3 SH2B adaptor protein 3 JBrowse link NW_004955482 8,079,905 8,100,791 RGD:9068941
G Sla Src like adaptor JBrowse link NW_004955461 7,622,501 7,643,008 RGD:9068941
G Sod2 superoxide dismutase 2 JBrowse link NW_004955439 21,209,101 21,223,538 RGD:9068941
G Tgfb1 transforming growth factor beta 1 JBrowse link NW_004955555 274,405 288,441 RGD:9068941
G Tlr2 toll like receptor 2 JBrowse link NW_004955471 8,011,710 8,019,063 RGD:9068941
G Tlr4 toll like receptor 4 JBrowse link NW_004955419 10,190,937 10,201,896 RGD:9068941
G Tnf tumor necrosis factor JBrowse link NW_004955437 117,267 119,899 RGD:9068941
G Tob2 transducer of ERBB2, 2 JBrowse link NW_004955413 26,999,955 27,010,091 RGD:9068941
G Tyr tyrosinase JBrowse link NW_004955414 4,244,035 4,314,001 RGD:9068941
G Vdr vitamin D receptor JBrowse link NW_004955500 6,745,725 6,798,052 RGD:9068941
Waardenburg Syndrome Type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Edn3 endothelin 3 JBrowse link NW_004955445 215,910 238,153 RGD:9068941
G Ednrb endothelin receptor type B JBrowse link NW_004955404 29,394,253 29,425,358 RGD:9068941
G Sox10 SRY-box 10 JBrowse link NW_004955413 24,313,311 24,323,112 RGD:9068941
Waardenburg syndrome type 4A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ednrb endothelin receptor type B JBrowse link NW_004955404 29,394,253 29,425,358 RGD:9068941
RGD:7240710
G Polr2f RNA polymerase II subunit F JBrowse link NW_004955413 24,300,340 24,309,798 RGD:9068941
G Sox10 SRY-box 10 JBrowse link NW_004955413 24,313,311 24,323,112 RGD:9068941
Waardenburg syndrome type 4B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Edn3 endothelin 3 JBrowse link NW_004955445 215,910 238,153 RGD:9068941
RGD:7240710
Waardenburg syndrome type 4C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Polr2f RNA polymerase II subunit F JBrowse link NW_004955413 24,300,340 24,309,798 RGD:9068941
G Sox10 SRY-box 10 JBrowse link NW_004955413 24,313,311 24,323,112 RGD:9068941
RGD:7240710
Watson Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nf1 neurofibromin 1 JBrowse link NW_004955481 6,145,855 6,404,179 RGD:9068941
RGD:7240710
xeroderma pigmentosum term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ddb1 damage specific DNA binding protein 1 JBrowse link NW_004955511 6,209,777 6,233,594 RGD:9068941
G Ddb2 damage specific DNA binding protein 2 JBrowse link NW_004955422 961,602 977,066 RGD:9068941
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit JBrowse link NW_004955555 2,393,510 2,430,180 RGD:9068941
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link NW_004955555 2,355,005 2,369,599 RGD:9068941
G Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit JBrowse link NW_004955459 3,210,936 3,238,401 RGD:9068941
G Ercc4 ERCC excision repair 4, endonuclease catalytic subunit JBrowse link NW_004955442 4,833,453 4,861,201 RGD:9068941
G Ercc5 ERCC excision repair 5, endonuclease JBrowse link NW_004955404 8,294,506 8,321,505 RGD:9068941
G Gtpbp2 GTP binding protein 2 JBrowse link NW_004955437 9,414,128 9,425,671 RGD:9068941
G Klc3 kinesin light chain 3 JBrowse link NW_004955555 2,346,241 2,355,529 RGD:9068941
G Polh DNA polymerase eta JBrowse link NW_004955437 9,392,484 9,409,186 RGD:9068941
G Terf2 telomeric repeat binding factor 2 JBrowse link NW_004955484 7,318,813 7,344,221 RGD:9068941
G Tmem43 transmembrane protein 43 JBrowse link NW_004955429 16,921,469 16,934,978 RGD:9068941
G Tp53 tumor protein p53 JBrowse link NW_004955467 9,241,391 9,256,716 RGD:9068941
G Xpa XPA, DNA damage recognition and repair factor JBrowse link NW_004955419 27,751,042 27,774,917 RGD:9068941
G Xpc XPC complex subunit, DNA damage recognition and repair factor JBrowse link NW_004955429 16,935,901 16,968,285 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 NW_004955419 27,751,042 27,774,917 RGD:9068941
RGD:7240710
G Xpc XPC complex subunit, DNA damage recognition and repair factor JBrowse link NW_004955429 16,935,901 16,968,285 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 NW_004955459 3,210,936 3,238,401 RGD:9068941
RGD:7240710
xeroderma pigmentosum group C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem43 transmembrane protein 43 JBrowse link NW_004955429 16,921,469 16,934,978 RGD:9068941
G Xpc XPC complex subunit, DNA damage recognition and repair factor JBrowse link NW_004955429 16,935,901 16,968,285 RGD:9068941
RGD:7240710
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 NW_004955555 2,355,005 2,369,599 RGD:9068941
RGD:7240710
xeroderma pigmentosum group E term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ddb2 damage specific DNA binding protein 2 JBrowse link NW_004955422 961,602 977,066 RGD:9068941
RGD:7240710
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 NW_004955442 4,833,453 4,861,201 RGD:9068941
RGD:7240710
xeroderma pigmentosum group G term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc5 ERCC excision repair 5, endonuclease JBrowse link NW_004955404 8,294,506 8,321,505 RGD:9068941
RGD:7240710
xeroderma pigmentosum variant type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Polh DNA polymerase eta JBrowse link NW_004955437 9,392,484 9,409,186 RGD:9068941
RGD:7240710
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 NW_004955555 2,393,510 2,430,180 RGD:9068941
G Ercc4 ERCC excision repair 4, endonuclease catalytic subunit JBrowse link NW_004955442 4,833,453 4,861,201 RGD:9068941
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 10457
    sensory system disease 3707
      skin disease 1923
        pigmentation disease 173
          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 + 6
          Elejalde Disease 0
          FLOTCH Syndrome 0
          Graying of Hair, Precocious 0
          Griscelli syndrome + 3
          Grouped Pigmentation of the Macula 0
          Heterochromia Iridis 1
          Hyperpigmentation + 39
          Hypopigmentation + 86
          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 10457
    disease of anatomical entity 10045
      nervous system disease 7759
        sensory system disease 3707
          skin disease 1923
            pigmentation disease 173
              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 + 6
              Elejalde Disease 0
              FLOTCH Syndrome 0
              Graying of Hair, Precocious 0
              Griscelli syndrome + 3
              Grouped Pigmentation of the Macula 0
              Heterochromia Iridis 1
              Hyperpigmentation + 39
              Hypopigmentation + 86
              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