ONTOLOGY REPORT - ANNOTATIONS


Term:Albinism
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Accession:DOID:9001386 term browser browse the term
Definition:General term for a number of inherited defects of amino acid metabolism in which there is a deficiency or absence of pigment in the eyes, skin, or hair.
Synonyms:primary_id: MESH:D000417;   RDO:0000397
For additional species annotation, visit the Alliance of Genome Resources.


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Albinism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gpr143 G protein-coupled receptor 143 JBrowse link X 152,781,921 152,808,651 RGD:8554872
G Nrl neural retina leucine zipper gene JBrowse link 14 55,518,978 55,524,981 RGD:8554872
G Oca2 oculocutaneous albinism II JBrowse link 7 56,239,593 56,536,517 RGD:8554872
G Tyr tyrosinase JBrowse link 7 87,424,771 87,493,512 RGD:8694353
RGD:8554872
RGD:12792973
RGD:8694355
G Tyrp1 tyrosinase-related protein 1 JBrowse link 4 80,834,208 80,851,736 RGD:8554872
Aland Island eye disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna1f calcium channel, voltage-dependent, alpha 1F subunit JBrowse link X 7,607,070 7,635,196 RGD:7240710
RGD:8554872
RGD:13782379
Brown Oculocutaneous Albinism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Oca2 oculocutaneous albinism II JBrowse link 7 56,239,593 56,536,517 RGD:9491819
RGD:8554872
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mitf melanogenesis associated transcription factor JBrowse link 6 97,807,002 98,021,360 RGD:8554872
RGD:7240710
Griscelli syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rab27a RAB27A, member RAS oncogene family JBrowse link 9 73,044,810 73,097,623 RGD:8554872
Griscelli syndrome type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myo5a myosin VA JBrowse link 9 75,071,015 75,223,688 RGD:7240710
RGD:8554872
RGD:13592920
Griscelli syndrome type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rab27a RAB27A, member RAS oncogene family JBrowse link 9 73,044,810 73,097,623 RGD:7240710
RGD:8554872
Griscelli syndrome type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mlph melanophilin JBrowse link 1 90,915,023 90,951,142 RGD:7240710
RGD:8554872
G Myo5a myosin VA JBrowse link 9 75,071,015 75,223,688 RGD:8554872
Hermansky-Pudlak syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ap3b1 adaptor-related protein complex 3, beta 1 subunit JBrowse link 13 94,358,580 94,566,316 RGD:1578409
RGD:8554872
RGD:11087577
RGD:11087576
G Ap3d1 adaptor-related protein complex 3, delta 1 subunit JBrowse link 10 80,706,956 80,742,284 RGD:11554173
G Bloc1s3 biogenesis of lysosomal organelles complex-1, subunit 3 JBrowse link 7 19,505,783 19,508,358 RGD:8554872
RGD:11554173
G Bloc1s4 biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino JBrowse link 5 36,747,374 36,748,679 RGD:13592920
G Bloc1s5 biogenesis of lysosomal organelles complex-1, subunit 5, muted JBrowse link 13 38,602,706 38,635,876 RGD:13592920
G Bloc1s6 biogenesis of lysosomal organelles complex-1, subunit 6, pallidin JBrowse link 2 122,738,505 122,749,487 RGD:8554872
RGD:11554173
G Ccl5 chemokine (C-C motif) ligand 5 JBrowse link 11 83,525,778 83,530,518 RGD:4891476
G Cp ceruloplasmin JBrowse link 3 19,956,985 20,009,750 RGD:8554872
G Cxcr4 chemokine (C-X-C motif) receptor 4 JBrowse link 1 128,588,199 128,592,311 RGD:11352293
G Dtnbp1 dystrobrevin binding protein 1 JBrowse link 13 44,922,077 45,002,096 RGD:11251756
RGD:11554173
RGD:8554872
G Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 JBrowse link 19 42,755,191 42,779,996 RGD:8554872
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 JBrowse link 3 19,995,945 20,035,380 RGD:1599538
RGD:8554872
RGD:11554173
G Hps4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 JBrowse link 5 112,343,039 112,378,424 RGD:1599546
RGD:11554173
RGD:8554872
RGD:11354897
RGD:11353873
G Hps5 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 JBrowse link 7 46,760,466 46,796,064 RGD:11072072
RGD:11554173
RGD:8554872
G Hps6 HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 JBrowse link 19 46,003,478 46,006,173 RGD:11073544
RGD:11554173
RGD:8554872
G Kxd1 KxDL motif containing 1 JBrowse link 8 70,513,396 70,523,180 RGD:13592920
G Rab38 RAB38, member RAS oncogene family JBrowse link 7 88,430,273 88,491,572 RGD:2324690
G Rabggta Rab geranylgeranyl transferase, a subunit JBrowse link 14 55,715,877 55,722,368 RGD:13592920
G Slc7a11 solute carrier family 7 (cationic amino acid transporter, y+ system), member 11 JBrowse link 3 50,364,936 50,499,087 RGD:13592920
G Trappc6a trafficking protein particle complex 6A JBrowse link 7 19,508,729 19,516,145 RGD:8554872
G Vps33a VPS33A CORVET/HOPS core subunit JBrowse link 5 123,527,304 123,573,043 RGD:13592920
Hermansky-Pudlak syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ap3d1 adaptor-related protein complex 3, delta 1 subunit JBrowse link 10 80,706,956 80,742,284 RGD:13592920
G Dtnbp1 dystrobrevin binding protein 1 JBrowse link 13 44,922,077 45,002,096 RGD:8554872
G Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 JBrowse link 19 42,755,191 42,779,996 RGD:1625056
RGD:13592920
RGD:8554872
RGD:7240710
G Rab27a RAB27A, member RAS oncogene family JBrowse link 9 73,044,810 73,097,623 RGD:13592920
Hermansky-Pudlak Syndrome 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ap3d1 adaptor-related protein complex 3, delta 1 subunit JBrowse link 10 80,706,956 80,742,284 RGD:8554872
RGD:7240710
Hermansky-Pudlak syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ap3b1 adaptor-related protein complex 3, beta 1 subunit JBrowse link 13 94,358,580 94,566,316 RGD:7240710
RGD:13592920
RGD:8554872
G Ap3d1 adaptor-related protein complex 3, delta 1 subunit JBrowse link 10 80,706,956 80,742,284 RGD:13592920
Hermansky-Pudlak syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cp ceruloplasmin JBrowse link 3 19,956,985 20,009,750 RGD:8554872
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 JBrowse link 3 19,995,945 20,035,380 RGD:7240710
RGD:8554872
RGD:13592920
RGD:11041885
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 5 112,343,039 112,378,424 RGD:7240710
RGD:13592920
RGD:8554872
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 7 46,760,466 46,796,064 RGD:7240710
RGD:8554872
RGD:13592920
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 19 46,003,478 46,006,173 RGD:7240710
RGD:13592920
RGD:8554872
Hermansky-Pudlak syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dtnbp1 dystrobrevin binding protein 1 JBrowse link 13 44,922,077 45,002,096 RGD:7240710
RGD:13592920
RGD:8554872
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 7 19,505,783 19,508,358 RGD:7240710
RGD:13592920
RGD:8554872
Hermansky-Pudlak syndrome 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bloc1s6 biogenesis of lysosomal organelles complex-1, subunit 6, pallidin JBrowse link 2 122,738,505 122,749,487 RGD:7240710
RGD:8554872
RGD:13592920
ocular albinism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gpr143 G protein-coupled receptor 143 JBrowse link X 152,781,921 152,808,651 RGD:13592920
G Slc24a5 solute carrier family 24, member 5 JBrowse link 2 125,068,127 125,088,677 RGD:13592920
G Tyr tyrosinase JBrowse link 7 87,424,771 87,493,512 RGD:8694339
RGD:7240710
RGD:8554872
G Tyrp1 tyrosinase-related protein 1 JBrowse link 4 80,834,208 80,851,736 RGD:8554872
Ocular Albinism Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gpr143 G protein-coupled receptor 143 JBrowse link X 152,781,921 152,808,651 RGD:7240710
RGD:8554872
ocular albinism with sensorineural deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mitf melanogenesis associated transcription factor JBrowse link 6 97,807,002 98,021,360 RGD:7240710
RGD:13592920
G Tyr tyrosinase JBrowse link 7 87,424,771 87,493,512 RGD:7240710
RGD:8554872
oculocutaneous albinism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Amacr alpha-methylacyl-CoA racemase JBrowse link 15 10,981,756 10,996,624 RGD:8554872
G Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 JBrowse link 19 42,755,191 42,779,996 RGD:11354899
G Mitf melanogenesis associated transcription factor JBrowse link 6 97,807,002 98,021,360 RGD:11554173
G Oca2 oculocutaneous albinism II JBrowse link 7 56,239,593 56,536,517 RGD:8554872
RGD:13592920
G Slc45a2 solute carrier family 45, member 2 JBrowse link 15 11,000,721 11,029,233 RGD:8554872
RGD:13592920
G Tyr tyrosinase JBrowse link 7 87,424,771 87,493,512 RGD:1599686
RGD:8554872
RGD:13592920
RGD:11554173
RGD:8694352
RGD:8694345
RGD:8694338
RGD:1599687
G Tyrp1 tyrosinase-related protein 1 JBrowse link 4 80,834,208 80,851,736 RGD:1599692
RGD:8554872
Oculocutaneous Albinism Type I, Temperature-Sensitive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tyr tyrosinase JBrowse link 7 87,424,771 87,493,512 RGD:8554872
oculocutaneous albinism type IA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh7 myosin, heavy polypeptide 7, cardiac muscle, beta JBrowse link 14 54,970,684 54,994,549 RGD:8554872
G Tyr tyrosinase JBrowse link 7 87,424,771 87,493,512 RGD:7240710
RGD:8554872
RGD:11554173
RGD:8694340
RGD:8694337
RGD:8694335
RGD:8694334
oculocutaneous albinism type IB term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh7 myosin, heavy polypeptide 7, cardiac muscle, beta JBrowse link 14 54,970,684 54,994,549 RGD:8554872
G Tyr tyrosinase JBrowse link 7 87,424,771 87,493,512 RGD:7240710
RGD:8554872
oculocutaneous albinism type II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mc1r melanocortin 1 receptor JBrowse link 8 123,407,082 123,410,744 RGD:7240710
RGD:8554872
G Oca2 oculocutaneous albinism II JBrowse link 7 56,239,593 56,536,517 RGD:7240710
RGD:8554872
RGD:9491836
RGD:9491830
RGD:9491821
RGD:9491820
G Tyrp1 tyrosinase-related protein 1 JBrowse link 4 80,834,208 80,851,736 RGD:8554872
oculocutaneous albinism type III term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tyrp1 tyrosinase-related protein 1 JBrowse link 4 80,834,208 80,851,736 RGD:7240710
RGD:8554872
oculocutaneous albinism type IV term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brca2 breast cancer 2, early onset JBrowse link 5 150,522,021 150,570,147 RGD:8554872
G Col1a2 collagen, type I, alpha 2 JBrowse link 6 4,505,618 4,541,543 RGD:8554872
G Med12 mediator complex subunit 12 JBrowse link X 101,274,091 101,298,934 RGD:8554872
G Myh7 myosin, heavy polypeptide 7, cardiac muscle, beta JBrowse link 14 54,970,684 54,994,549 RGD:8554872
G Slc45a2 solute carrier family 45, member 2 JBrowse link 15 11,000,721 11,029,233 RGD:1599921
RGD:8554872
RGD:7240710
G Spg7 SPG7, paraplegin matrix AAA peptidase subunit JBrowse link 8 123,065,508 123,097,751 RGD:8554872
Oculocutaneous Albinism Type VI term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myef2 myelin basic protein expression factor 2, repressor JBrowse link 2 125,080,975 125,123,660 RGD:8554872
G Slc24a5 solute carrier family 24, member 5 JBrowse link 2 125,068,127 125,088,677 RGD:8554872
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 14 22,019,502 23,056,088 RGD:7240710
RGD:8554872
piebaldism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gli3 GLI-Kruppel family member GLI3 JBrowse link 13 15,463,723 15,730,026 RGD:12738207
G Kit KIT proto-oncogene receptor tyrosine kinase JBrowse link 5 75,574,987 75,656,722 RGD:1600045
RGD:8554872
RGD:13592920
RGD:12910729
RGD:7240710
G Snai2 snail family zinc finger 2 JBrowse link 16 14,705,859 14,709,385 RGD:1600041
RGD:8554872
RGD:7240710
Skin/Hair/Eye Pigmentation, Variation In, 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myef2 myelin basic protein expression factor 2, repressor JBrowse link 2 125,080,975 125,123,660 RGD:8554872
G Slc24a5 solute carrier family 24, member 5 JBrowse link 2 125,068,127 125,088,677 RGD:8554872
RGD:11554173
Tietz syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mitf melanogenesis associated transcription factor JBrowse link 6 97,807,002 98,021,360 RGD:7240710
RGD:8554872
RGD:13592920

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11726
    sensory system disease 4013
      skin disease 2113
        Genetic Skin Diseases 567
          Albinism 45
            Albinism Deafness Syndrome 0
            Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 0
            COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS 1
            Hermansky-Pudlak syndrome 1 4
            Microcephaly Albinism Digital Anomalies Syndrome 0
            ocular albinism + 6
            oculocutaneous albinism + 37
            piebaldism + 6
Path 2
Term Annotations click to browse term
  disease 11726
    disease of anatomical entity 11187
      nervous system disease 8520
        sensory system disease 4013
          eye and adnexa disease 1925
            eye disease 1925
              Hereditary Eye Diseases 498
                Albinism 45
                  Albinism Deafness Syndrome 0
                  Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 0
                  COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS 1
                  Hermansky-Pudlak syndrome 1 4
                  Microcephaly Albinism Digital Anomalies Syndrome 0
                  ocular albinism + 6
                  oculocutaneous albinism + 37
                  piebaldism + 6
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.