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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_004936561 6,341,667 6,346,440 RGD:9068941
G Colec11 collectin subfamily member 11 JBrowse link NW_004936532 1,757,288 1,776,053 RGD:9068941
G Masp1 mannan binding lectin serine peptidase 1 JBrowse link NW_004936578 2,804,460 2,857,731 RGD:9068941
G Mitf melanocyte inducing transcription factor JBrowse link NW_004936603 1,682,411 1,858,295 RGD:9068941
G Mpv17 mitochondrial inner membrane protein MPV17 JBrowse link NW_004936493 5,246,803 5,258,147 RGD:9068941
acanthosis nigricans term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link NW_004936477 21,591,772 21,606,289 RGD:9068941
G Prmt7 protein arginine methyltransferase 7 JBrowse link NW_004936475 18,632,022 18,667,515 RGD:9068941
G Tbc1d4 TBC1 domain family member 4 JBrowse link NW_004936511 5,789,683 5,858,930 RGD:9068941
ADULT syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tp63 tumor protein p63 JBrowse link NW_004936578 492,267 705,282 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 NW_004936721 1,078,570 1,106,153 RGD:7240710
RGD:9068941
Albinism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gpr143 G protein-coupled receptor 143 JBrowse link NW_004936644 196,344 236,659 RGD:9068941
G Nrl neural retina leucine zipper JBrowse link NW_004936722 448,006 454,064 RGD:9068941
G Oca2 OCA2 melanosomal transmembrane protein JBrowse link NW_004936471 38,612,450 38,952,150 RGD:9068941
G Tyr tyrosinase JBrowse link NW_004936736 421,623 519,085 RGD:9068941
G Tyrp1 tyrosinase related protein 1 JBrowse link NW_004936539 6,537,448 6,555,440 RGD:9068941
Autoimmune Disease, Susceptibility To, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxd3 forkhead box D3 JBrowse link NW_004936692 951,394 953,612 RGD:7240710
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_004936486 10,506,680 10,606,272 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 NW_004936809 1,280,254 1,306,964 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 NW_004936471 38,612,450 38,952,150 RGD:9068941
Cafe au lait Spots, Multiple term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nf1 neurofibromin 1 JBrowse link NW_004936538 3,394,623 3,596,025 RGD:9068941
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 JBrowse link NW_004936508 12,162,553 12,281,812 RGD:9068941
Cafe-au-Lait Spots term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnas GNAS complex locus JBrowse link NW_004936530 1,353,432 1,407,437 RGD:9068941
G Nf1 neurofibromin 1 JBrowse link NW_004936538 3,394,623 3,596,025 RGD:9068941
G Pms2 PMS1 homolog 2, mismatch repair system component JBrowse link NW_004936750 439,396 468,747 RGD:9068941
G Spred1 sprouty related EVH1 domain containing 1 JBrowse link NW_004936471 1,952,532 2,039,561 RGD:9068941
Cole Disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC101964456 ectonucleotide pyrophosphatase/phosphodiesterase family member 1 JBrowse link NW_004937067 194,375 246,607 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 NW_004936603 1,682,411 1,858,295 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_004936477 21,591,772 21,606,289 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 NW_004936728 706,499 843,447 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 NW_004936471 19,760,709 19,911,759 RGD:9068941
G Krt5 keratin 5 JBrowse link NW_004936512 9,923,593 9,929,517 RGD:7240710
RGD:9068941
G Pofut1 protein O-fucosyltransferase 1 JBrowse link NW_004936485 19,111,704 19,137,689 RGD:9068941
G Poglut1 protein O-glucosyltransferase 1 JBrowse link NW_004936536 6,408,066 6,427,864 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_004936485 19,111,704 19,137,689 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 NW_004936536 6,408,066 6,427,864 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 NW_004936636 292,631 341,999 RGD:7240710
RGD:9068941
G Abcc3 ATP binding cassette subfamily C member 3 JBrowse link NW_004936490 11,039,968 11,086,670 RGD:9068941
G Rdx radixin JBrowse link NW_004936612 3,992,542 4,060,598 RGD:9068941
dyschromatosis symmetrica hereditaria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adar adenosine deaminase RNA specific JBrowse link NW_004936580 4,183,016 4,208,341 RGD:7240710
RGD:9068941
G Chrnb2 cholinergic receptor nicotinic beta 2 subunit JBrowse link NW_004936580 4,165,255 4,179,285 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_004936569 1,628,649 1,635,599 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_004936569 1,628,649 1,635,599 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 NW_004936471 16,738,204 16,815,561 RGD:9068941
Griscelli syndrome type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myo5a myosin VA JBrowse link NW_004936471 14,105,832 14,257,386 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 NW_004936471 16,738,204 16,815,561 RGD:7240710
RGD:9068941
Griscelli syndrome type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mlph melanophilin JBrowse link NW_004936525 776,102 821,067 RGD:7240710
RGD:9068941
G Myo5a myosin VA JBrowse link NW_004936471 14,105,832 14,257,386 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_004936557 7,191,377 7,243,489 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 NW_004936549 5,964,240 6,205,245 RGD:9068941
G Ap3d1 adaptor related protein complex 3 subunit delta 1 JBrowse link NW_004936588 1,223,646 1,262,577 RGD:9068941
G Bloc1s3 biogenesis of lysosomal organelles complex 1 subunit 3 JBrowse link NW_004936706 1,702,154 1,704,366 RGD:9068941
G Bloc1s4 biogenesis of lysosomal organelles complex 1 subunit 4 JBrowse link NW_004936477 18,618,330 18,619,512 RGD:9068941
G Bloc1s5 biogenesis of lysosomal organelles complex 1 subunit 5 JBrowse link NW_004936534 4,550,592 4,584,482 RGD:9068941
G Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 JBrowse link NW_004936471 8,209,091 8,226,249 RGD:9068941
G Ccl5 C-C motif chemokine ligand 5 JBrowse link NW_004936490 253,279 259,947 RGD:9068941
G Cp ceruloplasmin JBrowse link NW_004936519 6,431,156 6,473,183 RGD:9068941
G Cxcr4 C-X-C motif chemokine receptor 4 JBrowse link NW_004936469 39,794,613 39,798,448 RGD:9068941
G Dtnbp1 dystrobrevin binding protein 1 JBrowse link NW_004936552 1,787,687 1,926,516 RGD:9068941
G Hps1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 JBrowse link NW_004936636 1,407,666 1,430,683 RGD:9068941
G Hps3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 JBrowse link NW_004936519 6,470,077 6,530,897 RGD:9068941
G Hps4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 JBrowse link NW_004936657 1,075,300 1,104,328 RGD:9068941
G Hps5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 JBrowse link NW_004936528 940,372 980,867 RGD:9068941
G Hps6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 JBrowse link NW_004936600 3,754,324 3,757,048 RGD:9068941
G Kxd1 KxDL motif containing 1 JBrowse link NW_004936596 2,711,326 2,719,839 RGD:9068941
G Rab38 RAB38, member RAS oncogene family JBrowse link NW_004936736 1,304,290 1,360,412 RGD:9068941
G Rabggta Rab geranylgeranyltransferase subunit alpha JBrowse link NW_004936722 283,682 289,548 RGD:9068941
G Slc7a11 solute carrier family 7 member 11 JBrowse link NW_004936535 9,177,305 9,242,743 RGD:9068941
G Trappc6a trafficking protein particle complex 6A JBrowse link NW_004936706 1,694,050 1,701,746 RGD:9068941
G Vps33a VPS33A core subunit of CORVET and HOPS complexes JBrowse link NW_004936558 2,227,305 2,257,725 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_004936588 1,223,646 1,262,577 RGD:9068941
G Dtnbp1 dystrobrevin binding protein 1 JBrowse link NW_004936552 1,787,687 1,926,516 RGD:9068941
G Hps1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 JBrowse link NW_004936636 1,407,666 1,430,683 RGD:7240710
RGD:9068941
G Rab27a RAB27A, member RAS oncogene family JBrowse link NW_004936471 16,738,204 16,815,561 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_004936588 1,223,646 1,262,577 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_004936549 5,964,240 6,205,245 RGD:7240710
RGD:9068941
G Ap3d1 adaptor related protein complex 3 subunit delta 1 JBrowse link NW_004936588 1,223,646 1,262,577 RGD:9068941
Hermansky-Pudlak syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cp ceruloplasmin JBrowse link NW_004936519 6,431,156 6,473,183 RGD:9068941
G Hps3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 JBrowse link NW_004936519 6,470,077 6,530,897 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 NW_004936657 1,075,300 1,104,328 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 NW_004936528 940,372 980,867 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 NW_004936600 3,754,324 3,757,048 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 NW_004936552 1,787,687 1,926,516 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 NW_004936706 1,702,154 1,704,366 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 NW_004936471 8,209,091 8,226,249 RGD:7240710
RGD:9068941
Heterochromia Iridis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mitf melanocyte inducing transcription factor JBrowse link NW_004936603 1,682,411 1,858,295 RGD:9068941
Hyperpigmentation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ahr aryl hydrocarbon receptor JBrowse link NW_004936546 3,737,908 3,783,492 RGD:9068941
G Rpl27a ribosomal protein L27a JBrowse link NW_004936528 9,343,620 9,348,935 RGD:9068941
G Slc29a3 solute carrier family 29 member 3 JBrowse link NW_004936521 7,417,914 7,452,695 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_004936507 5,566,144 5,650,412 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 NW_004936809 1,280,254 1,306,964 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_004936517 841,402 941,054 RGD:9068941
G Gli3 GLI family zinc finger 3 JBrowse link NW_004936478 17,129,922 17,403,630 RGD:9068941
G Mc1r melanocortin 1 receptor JBrowse link NW_004936641 193,885 198,730 RGD:9068941
G Rab27a RAB27A, member RAS oncogene family JBrowse link NW_004936471 16,738,204 16,815,561 RGD:9068941
G Tyr tyrosinase JBrowse link NW_004936736 421,623 519,085 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_004936588 4,345,306 4,453,380 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 NW_004936471 2,118,797 2,149,346 RGD:9068941
G Rasgrp1 RAS guanyl releasing protein 1 JBrowse link NW_004936471 2,152,231 2,222,260 RGD:9068941
G Spred1 sprouty related EVH1 domain containing 1 JBrowse link NW_004936471 1,952,532 2,039,561 RGD:7240710
RGD:9068941
Lentigo term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hgf hepatocyte growth factor JBrowse link NW_004936734 354,798 428,356 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_004936592 4,728,371 4,833,830 RGD:9068941
G Epha2 EPH receptor A2 JBrowse link NW_004936474 3,648,395 3,673,856 RGD:9068941
G Ppp1r13l protein phosphatase 1 regulatory subunit 13 like JBrowse link NW_004936706 1,835,306 1,846,821 RGD:9068941
G Pten phosphatase and tensin homolog JBrowse link NW_004936735 1,252,414 1,338,318 RGD:9068941
G Ptpn11 protein tyrosine phosphatase non-receptor type 11 JBrowse link NW_004936668 2,602,261 2,687,903 RGD:9068941
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase JBrowse link NW_004936602 1,089,979 1,114,376 RGD:9068941
G Rpl6 ribosomal protein L6 JBrowse link NW_004936668 2,584,829 2,588,236 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 NW_004936668 2,602,261 2,687,903 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 NW_004936602 1,089,979 1,114,376 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 NW_004936592 4,728,371 4,833,830 RGD:7240710
RGD:9068941
Leukonychia Totalis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plcd1 phospholipase C delta 1 JBrowse link NW_004936473 27,364,404 27,387,337 RGD:9068941
Melanosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh2 aldehyde dehydrogenase 2 family member JBrowse link NW_004936558 4,362,693 4,387,705 RGD:9068941
neonatal jaundice term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G G6pd glucose-6-phosphate dehydrogenase JBrowse link NW_004936809 1,269,900 1,285,853 RGD:9068941
G Nr1i2 nuclear receptor subfamily 1 group I member 2 JBrowse link NW_004936536 6,691,590 6,726,421 RGD:9068941
Neurocutaneous Melanosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nras NRAS proto-oncogene, GTPase JBrowse link NW_004936627 73,413 82,590 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 NW_004936473 27,364,404 27,387,337 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 NW_004936644 196,344 236,659 RGD:9068941
G Slc24a5 solute carrier family 24 member 5 JBrowse link NW_004936471 10,470,078 10,492,334 RGD:9068941
G Tyr tyrosinase JBrowse link NW_004936736 421,623 519,085 RGD:7240710
RGD:9068941
G Tyrp1 tyrosinase related protein 1 JBrowse link NW_004936539 6,537,448 6,555,440 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_004936644 196,344 236,659 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 NW_004936603 1,682,411 1,858,295 RGD:7240710
RGD:9068941
G Tyr tyrosinase JBrowse link NW_004936736 421,623 519,085 RGD:7240710
RGD:9068941
oculocutaneous albinism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Amacr alpha-methylacyl-CoA racemase JBrowse link NW_004936518 7,072,436 7,088,927 RGD:9068941
G Hps1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 JBrowse link NW_004936636 1,407,666 1,430,683 RGD:9068941
G Mitf melanocyte inducing transcription factor JBrowse link NW_004936603 1,682,411 1,858,295 RGD:9068941
G Oca2 OCA2 melanosomal transmembrane protein JBrowse link NW_004936471 38,612,450 38,952,150 RGD:9068941
G Slc45a2 solute carrier family 45 member 2 JBrowse link NW_004936518 7,094,949 7,139,961 RGD:9068941
G Tyr tyrosinase JBrowse link NW_004936736 421,623 519,085 RGD:9068941
G Tyrp1 tyrosinase related protein 1 JBrowse link NW_004936539 6,537,448 6,555,440 RGD:9068941
Oculocutaneous Albinism Type I, Temperature-Sensitive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tyr tyrosinase JBrowse link NW_004936736 421,623 519,085 RGD:9068941
oculocutaneous albinism type IA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC101972165 myosin-7 JBrowse link NW_004936722 967,443 991,530 RGD:9068941
G Tyr tyrosinase JBrowse link NW_004936736 421,623 519,085 RGD:7240710
RGD:9068941
oculocutaneous albinism type IB term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC101972165 myosin-7 JBrowse link NW_004936722 967,443 991,530 RGD:9068941
G Tyr tyrosinase JBrowse link NW_004936736 421,623 519,085 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 NW_004936641 193,885 198,730 RGD:7240710
RGD:9068941
G Oca2 OCA2 melanosomal transmembrane protein JBrowse link NW_004936471 38,612,450 38,952,150 RGD:7240710
RGD:9068941
G Tyrp1 tyrosinase related protein 1 JBrowse link NW_004936539 6,537,448 6,555,440 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_004936539 6,537,448 6,555,440 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 NW_004936472 26,945,659 27,017,693 RGD:9068941
G Col1a2 collagen type I alpha 2 chain JBrowse link NW_004936585 5,650,322 5,686,393 RGD:9068941
G LOC101972165 myosin-7 JBrowse link NW_004936722 967,443 991,530 RGD:9068941
G Med12 mediator complex subunit 12 JBrowse link NW_004936762 460,342 483,264 RGD:9068941
G Slc45a2 solute carrier family 45 member 2 JBrowse link NW_004936518 7,094,949 7,139,961 RGD:7240710
RGD:9068941
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link NW_004936641 451,762 484,229 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_004936471 10,492,548 10,519,549 RGD:9068941
G Slc24a5 solute carrier family 24 member 5 JBrowse link NW_004936471 10,470,078 10,492,334 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 NW_004936521 2,959,770 3,637,431 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 NW_004936523 6,688,153 6,798,184 RGD:7240710
RGD:9068941
G Erap1 endoplasmic reticulum aminopeptidase 1 JBrowse link NW_004936523 6,661,119 6,686,988 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_004936588 460,308 477,382 RGD:9068941
G Arhgap45 Rho GTPase activating protein 45 JBrowse link NW_004936588 478,708 492,029 RGD:9068941
G Arid3a AT-rich interaction domain 3A JBrowse link NW_004936588 389,213 418,360 RGD:9068941
G Cbarp CACN subunit beta associated regulatory protein JBrowse link NW_004936588 601,108 607,823 RGD:9068941
G Cfd complement factor D JBrowse link NW_004936588 350,925 352,732 RGD:9068941
G Cnn2 calponin 2 JBrowse link NW_004936588 453,908 459,916 RGD:9068941
G Gpx4 glutathione peroxidase 4 JBrowse link NW_004936588 506,101 508,469 RGD:9068941
G Grin3b glutamate ionotropic receptor NMDA type subunit 3B JBrowse link NW_004936588 433,544 440,534 RGD:9068941
G Kiss1r KISS1 receptor JBrowse link NW_004936588 384,195 387,625 RGD:9068941
G Med16 mediator complex subunit 16 JBrowse link NW_004936588 352,723 370,898 RGD:9068941
G Polr2e RNA polymerase II subunit E JBrowse link NW_004936588 494,445 499,659 RGD:9068941
G R3hdm4 R3H domain containing 4 JBrowse link NW_004936588 373,177 382,018 RGD:9068941
G Sbno2 strawberry notch homolog 2 JBrowse link NW_004936588 509,244 556,424 RGD:9068941
G Stk11 serine/threonine kinase 11 JBrowse link NW_004936588 579,816 601,033 RGD:7240710
RGD:9068941
G Tmem259 transmembrane protein 259 JBrowse link NW_004936588 440,460 449,440 RGD:9068941
G Wdr18 WD repeat domain 18 JBrowse link NW_004936588 423,672 429,875 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_004936706 1,816,561 1,829,638 RGD:7240710
RGD:9068941
G Gtf2h5 general transcription factor IIH subunit 5 JBrowse link NW_004936489 9,983,935 9,993,179 RGD:9068941
G Mplkip M-phase specific PLK1 interacting protein JBrowse link NW_004936478 15,421,612 15,423,894 RGD:9068941
piebaldism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gli3 GLI family zinc finger 3 JBrowse link NW_004936478 17,129,922 17,403,630 RGD:9068941
G Kit KIT proto-oncogene, receptor tyrosine kinase JBrowse link NW_004936482 17,162,854 17,238,319 RGD:7240710
RGD:9068941
G Snai2 snail family transcriptional repressor 2 JBrowse link NW_004936590 3,813,916 3,817,642 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 NW_004936471 19,760,709 19,911,759 RGD:7240710
RGD:9068941
G Krt5 keratin 5 JBrowse link NW_004936512 9,923,593 9,929,517 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_004936836 1,151 287,438 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_004936471 38,419,147 38,606,312 RGD:7240710
RGD:9068941
G Irf4 interferon regulatory factor 4 JBrowse link NW_004936633 1,565,293 1,580,859 RGD:9068941
G Oca2 OCA2 melanosomal transmembrane protein JBrowse link NW_004936471 38,612,450 38,952,150 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 NW_004936599 1,301,937 1,343,046 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_004936539 6,537,448 6,555,440 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 NW_004936471 10,492,548 10,519,549 RGD:9068941
G Slc24a5 solute carrier family 24 member 5 JBrowse link NW_004936471 10,470,078 10,492,334 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_004936518 7,094,949 7,139,961 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_004936733 515,546 639,699 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_004936507 5,566,144 5,650,412 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_004936633 1,565,293 1,580,859 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_004936561 6,314,797 6,333,961 RGD:9068941
G Asip agouti signaling protein JBrowse link NW_004936561 6,341,667 6,346,440 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_004936809 1,097,288 1,123,206 RGD:7240710
RGD:9068941
Tietz syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mitf melanocyte inducing transcription factor JBrowse link NW_004936603 1,682,411 1,858,295 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 NW_004936482 17,162,854 17,238,319 RGD:9068941
vitiligo term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bach2 BTB domain and CNC homolog 2 JBrowse link NW_004936510 2,041,004 2,375,215 RGD:9068941
G C3 complement C3 JBrowse link NW_004936588 3,985,732 4,023,221 RGD:9068941
G C4a complement C4A (Rodgers blood group) JBrowse link NW_004936727 1,556,204 1,570,084 RGD:9068941
G Casp7 caspase 7 JBrowse link NW_004936486 4,082,664 4,114,942 RGD:9068941
G Cat catalase JBrowse link NW_004936533 3,601,270 3,637,128 RGD:9068941
G Ccr6 C-C motif chemokine receptor 6 JBrowse link NW_004936489 16,669,297 16,689,451 RGD:9068941
G Cd44 CD44 molecule (Indian blood group) JBrowse link NW_004936533 2,949,026 3,033,166 RGD:9068941
G Cd80 CD80 molecule JBrowse link NW_004936536 6,462,080 6,483,450 RGD:9068941
G Clnk cytokine dependent hematopoietic cell linker JBrowse link NW_004936477 16,364,465 16,427,125 RGD:9068941
G Clu clusterin JBrowse link NW_004936675 499,745 513,515 RGD:9068941
G Comt catechol-O-methyltransferase JBrowse link NW_004936619 3,847,059 3,883,866 RGD:9068941
G Ctla4 cytotoxic T-lymphocyte associated protein 4 JBrowse link NW_004936631 484,356 489,643 RGD:9068941
G Esr1 estrogen receptor 1 JBrowse link NW_004936489 4,616,839 4,887,179 RGD:9068941
G Foxp1 forkhead box P1 JBrowse link NW_004936603 2,631,781 3,146,104 RGD:9068941
G Hgf hepatocyte growth factor JBrowse link NW_004936734 354,798 428,356 RGD:9068941
G Hspa1a heat shock protein family A (Hsp70) member 1A JBrowse link NW_004936727 1,732,323 1,735,128 RGD:9068941
G Ifih1 interferon induced with helicase C domain 1 JBrowse link NW_004936469 16,721,306 16,778,249 RGD:9068941
G Ifng interferon gamma JBrowse link NW_004936545 6,139,130 6,144,543 RGD:9068941
G Ikzf4 IKAROS family zinc finger 4 JBrowse link NW_004936646 417,565 449,021 RGD:9068941
G Il13 interleukin 13 JBrowse link NW_004936647 2,529,933 2,532,503 RGD:9068941
G Il17a interleukin 17A JBrowse link NW_004936476 8,621,860 8,625,008 RGD:9068941
G Il1a interleukin 1 alpha JBrowse link NW_004936783 1,210,715 1,218,315 RGD:9068941
G Il2 interleukin 2 JBrowse link NW_004936662 1,594,953 1,599,625 RGD:9068941
G Il4 interleukin 4 JBrowse link NW_004936647 2,510,457 2,518,576 RGD:9068941
G Kif1b kinesin family member 1B JBrowse link NW_004936623 4,091,093 4,222,510 RGD:9068941
G Mc1r melanocortin 1 receptor JBrowse link NW_004936641 193,885 198,730 RGD:9068941
G Nfe2l2 nuclear factor, erythroid 2 like 2 JBrowse link NW_004936509 6,589,967 6,621,171 RGD:9068941
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 JBrowse link NW_004936480 1,188,408 1,273,210 RGD:9068941
G Psmb9 proteasome subunit beta 9 JBrowse link NW_004936476 25,894,313 25,899,132 RGD:9068941
G Ptpn22 protein tyrosine phosphatase non-receptor type 22 JBrowse link NW_004936690 2,180,804 2,232,869 RGD:9068941
G Sh2b3 SH2B adaptor protein 3 JBrowse link NW_004936558 4,103,898 4,126,883 RGD:9068941
G Sla Src like adaptor JBrowse link NW_004936470 16,232,614 16,264,982 RGD:9068941
G Sod2 superoxide dismutase 2 JBrowse link NW_004936489 11,178,338 11,191,601 RGD:9068941
G Tgfb1 transforming growth factor beta 1 JBrowse link NW_004936661 3,742,080 3,758,266 RGD:9068941
G Tlr2 toll like receptor 2 JBrowse link NW_004936576 522,234 531,660 RGD:9068941
G Tlr4 toll like receptor 4 JBrowse link NW_004936487 6,519,140 6,532,018 RGD:9068941
G Tnf tumor necrosis factor JBrowse link NW_004936727 1,936,066 1,937,766 RGD:9068941
G Tob2 transducer of ERBB2, 2 JBrowse link NW_004936492 467,221 477,838 RGD:9068941
G Tyr tyrosinase JBrowse link NW_004936736 421,623 519,085 RGD:9068941
G Vdr vitamin D receptor JBrowse link NW_004936512 5,741,836 5,800,999 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 NW_004936677 2,248,153 2,290,802 RGD:7240710
RGD:9068941
Waardenburg Syndrome Type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Edn3 endothelin 3 JBrowse link NW_004936530 1,744,216 1,766,602 RGD:9068941
G Ednrb endothelin receptor type B JBrowse link NW_004936511 3,446,864 3,478,434 RGD:9068941
G Sox10 SRY-box 10 JBrowse link NW_004936492 3,173,770 3,183,423 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_004936511 3,446,864 3,478,434 RGD:7240710
RGD:9068941
G Polr2f RNA polymerase II subunit F JBrowse link NW_004936492 3,186,930 3,196,738 RGD:9068941
G Sox10 SRY-box 10 JBrowse link NW_004936492 3,173,770 3,183,423 RGD:9068941
Waardenburg syndrome type 4B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Edn3 endothelin 3 JBrowse link NW_004936530 1,744,216 1,766,602 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 NW_004936492 3,186,930 3,196,738 RGD:9068941
G Sox10 SRY-box 10 JBrowse link NW_004936492 3,173,770 3,183,423 RGD:7240710
RGD:9068941
Watson Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nf1 neurofibromin 1 JBrowse link NW_004936538 3,394,623 3,596,025 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 NW_004936581 1,710,382 1,742,598 RGD:9068941
G Ddb2 damage specific DNA binding protein 2 JBrowse link NW_004936562 1,960,406 1,974,809 RGD:9068941
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit JBrowse link NW_004936706 1,854,938 1,867,521 RGD:9068941
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link NW_004936706 1,816,561 1,829,638 RGD:9068941
G Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit JBrowse link NW_004936469 43,970,002 43,998,279 RGD:9068941
G Ercc4 ERCC excision repair 4, endonuclease catalytic subunit JBrowse link NW_004936501 2,301,072 2,329,346 RGD:9068941
G Gtpbp2 GTP binding protein 2 JBrowse link NW_004936476 16,389,659 16,397,603 RGD:9068941
G Klc3 kinesin light chain 3 JBrowse link NW_004936706 1,811,727 1,816,485 RGD:9068941
G LOC101968680 DNA repair protein complementing XP-G cells JBrowse link NW_004936472 8,209,482 8,234,696 RGD:9068941
G Polh DNA polymerase eta JBrowse link NW_004936476 16,400,026 16,434,538 RGD:9068941
G Terf2 telomeric repeat binding factor 2 JBrowse link NW_004936475 19,469,501 19,498,494 RGD:9068941
G Tmem43 transmembrane protein 43 JBrowse link NW_004936602 104,424 113,692 RGD:9068941
G Tp53 tumor protein p53 JBrowse link NW_004936595 919,807 935,367 RGD:9068941
G Xpa XPA, DNA damage recognition and repair factor JBrowse link NW_004936524 6,467,365 6,493,556 RGD:9068941
G Xpc XPC complex subunit, DNA damage recognition and repair factor JBrowse link NW_004936602 118,173 139,884 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_004936524 6,467,365 6,493,556 RGD:9068941
RGD:7240710
G Xpc XPC complex subunit, DNA damage recognition and repair factor JBrowse link NW_004936602 118,173 139,884 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_004936469 43,970,002 43,998,279 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 NW_004936602 104,424 113,692 RGD:9068941
G Xpc XPC complex subunit, DNA damage recognition and repair factor JBrowse link NW_004936602 118,173 139,884 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 NW_004936706 1,816,561 1,829,638 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 NW_004936562 1,960,406 1,974,809 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 NW_004936501 2,301,072 2,329,346 RGD:7240710
RGD:9068941
xeroderma pigmentosum group G term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC101968680 DNA repair protein complementing XP-G cells JBrowse link NW_004936472 8,209,482 8,234,696 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 NW_004936476 16,400,026 16,434,538 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 NW_004936706 1,854,938 1,867,521 RGD:9068941
G Ercc4 ERCC excision repair 4, endonuclease catalytic subunit JBrowse link NW_004936501 2,301,072 2,329,346 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 10593
    sensory system disease 3753
      skin disease 1963
        pigmentation disease 179
          ADULT syndrome 1
          Anonychia with Flexural Pigmentation 0
          Argyria 0
          BADS syndrome 0
          Basaran Yilmaz Syndrome 0
          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 + 39
          Hypopigmentation + 92
          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 10593
    disease of anatomical entity 10169
      nervous system disease 7866
        sensory system disease 3753
          skin disease 1963
            pigmentation disease 179
              ADULT syndrome 1
              Anonychia with Flexural Pigmentation 0
              Argyria 0
              BADS syndrome 0
              Basaran Yilmaz Syndrome 0
              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 + 39
              Hypopigmentation + 92
              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