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 9,725,413 9,786,260 RGD:8554872
G LURAP1L-AS1 LURAP1L antisense RNA 1 JBrowse link 9 12,699,999 12,814,389 RGD:8554872
G NRL neural retina leucine zipper JBrowse link 14 24,078,686 24,115,014 RGD:8554872
G OCA2 OCA2 melanosomal transmembrane protein JBrowse link 15 27,719,008 28,099,342 RGD:8554872
G TYR tyrosinase JBrowse link 11 89,177,565 89,295,759 RGD:8694353
RGD:8554872
RGD:12792973
RGD:8694355
G TYRP1 tyrosinase related protein 1 JBrowse link 9 12,693,375 12,710,266 RGD:8554872
Aland Island eye disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CACNA1F calcium voltage-gated channel subunit alpha1 F JBrowse link X 49,205,063 49,233,404 RGD:8554872
RGD:13782379
RGD:7240710
Brown Oculocutaneous Albinism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G OCA2 OCA2 melanosomal transmembrane protein JBrowse link 15 27,719,008 28,099,342 RGD:9491819
RGD:8554872
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MITF melanocyte inducing transcription factor JBrowse link 3 69,739,435 69,968,337 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 15 55,202,966 55,291,338 RGD:8554872
Griscelli syndrome type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYO5A myosin VA JBrowse link 15 52,307,283 52,529,050 RGD:8554872
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 15 55,202,966 55,291,338 RGD:8554872
RGD:7240710
Griscelli syndrome type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MLPH melanophilin JBrowse link 2 237,486,410 237,555,318 RGD:8554872
RGD:7240710
G MYO5A myosin VA JBrowse link 15 52,307,283 52,529,050 RGD:8554872
Hermansky-Pudlak syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AP3B1 adaptor related protein complex 3 subunit beta 1 JBrowse link 5 78,002,326 78,294,755 RGD:1578409
RGD:8554872
RGD:11087577
RGD:11087576
G AP3D1 adaptor related protein complex 3 subunit delta 1 JBrowse link 19 2,100,988 2,151,626 RGD:11554173
G BLOC1S3 biogenesis of lysosomal organelles complex 1 subunit 3 JBrowse link 19 45,178,745 45,202,715 RGD:8554872
RGD:11554173
G BLOC1S4 biogenesis of lysosomal organelles complex 1 subunit 4 JBrowse link 4 6,716,115 6,717,660 RGD:13592920
G BLOC1S5 biogenesis of lysosomal organelles complex 1 subunit 5 JBrowse link 6 8,013,567 8,064,414 RGD:13592920
G BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 JBrowse link 15 45,587,123 45,609,716 RGD:8554872
RGD:11554173
G CCL5 C-C motif chemokine ligand 5 JBrowse link 17 35,871,491 35,880,373 RGD:4891476
G CP ceruloplasmin JBrowse link 3 149,162,410 149,222,045 RGD:8554872
G CXCR4 C-X-C motif chemokine receptor 4 JBrowse link 2 136,114,349 136,118,155 RGD:11352293
G DTNBP1 dystrobrevin binding protein 1 JBrowse link 6 15,522,801 15,663,058 RGD:11251756
RGD:11554173
RGD:8554872
G HPS1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 JBrowse link 10 98,416,193 98,446,963 RGD:8554872
G HPS3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 JBrowse link 3 149,129,584 149,173,196 RGD:1599538
RGD:8554872
RGD:11554173
G HPS4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 JBrowse link 22 26,443,109 26,483,863 RGD:1599546
RGD:8554872
RGD:11554173
RGD:11354897
RGD:11353873
G HPS5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 JBrowse link 11 18,278,670 18,322,498 RGD:11072072
RGD:8554872
RGD:11554173
G HPS6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 JBrowse link 10 102,065,367 102,068,038 RGD:632833
RGD:11554173
RGD:8554872
RGD:11073544
G KXD1 KxDL motif containing 1 JBrowse link 19 18,557,762 18,569,387 RGD:13592920
G RAB38 RAB38, member RAS oncogene family JBrowse link 11 87,809,490 88,175,504 RGD:2324690
G RABGGTA Rab geranylgeranyltransferase subunit alpha JBrowse link 14 24,265,538 24,271,627 RGD:13592920
G SLC7A11 solute carrier family 7 member 11 JBrowse link 4 138,164,094 138,242,349 RGD:13592920
G TRAPPC6A trafficking protein particle complex 6A JBrowse link 19 45,162,928 45,179,266 RGD:8554872
G VPS33A VPS33A core subunit of CORVET and HOPS complexes JBrowse link 12 122,229,561 122,266,823 RGD:13592920
Hermansky-Pudlak syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AP3D1 adaptor related protein complex 3 subunit delta 1 JBrowse link 19 2,100,988 2,151,626 RGD:13592920
G DTNBP1 dystrobrevin binding protein 1 JBrowse link 6 15,522,801 15,663,058 RGD:8554872
G HPS1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 JBrowse link 10 98,416,193 98,446,963 RGD:1625056
RGD:8554872
RGD:7240710
G RAB27A RAB27A, member RAS oncogene family JBrowse link 15 55,202,966 55,291,338 RGD:13592920
Hermansky-Pudlak Syndrome 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AP3D1 adaptor related protein complex 3 subunit delta 1 JBrowse link 19 2,100,988 2,151,626 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 subunit beta 1 JBrowse link 5 78,002,326 78,294,755 RGD:8554872
RGD:7240710
G AP3D1 adaptor related protein complex 3 subunit delta 1 JBrowse link 19 2,100,988 2,151,626 RGD:13592920
Hermansky-Pudlak syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CP ceruloplasmin JBrowse link 3 149,162,410 149,222,045 RGD:8554872
G HPS3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 JBrowse link 3 149,129,584 149,173,196 RGD:11041885
RGD:8554872
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 22 26,443,109 26,483,863 RGD:8554872
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 11 18,278,670 18,322,498 RGD:8554872
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 10 102,065,367 102,068,038 RGD:8554872
RGD:7240710
Hermansky-Pudlak syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DTNBP1 dystrobrevin binding protein 1 JBrowse link 6 15,522,801 15,663,058 RGD:8554872
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 19 45,178,745 45,202,715 RGD:8554872
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 15 45,587,123 45,609,716 RGD:7240710
RGD:8554872
ocular albinism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GPR143 G protein-coupled receptor 143 JBrowse link X 9,725,413 9,786,260 RGD:13592920
G LURAP1L-AS1 LURAP1L antisense RNA 1 JBrowse link 9 12,699,999 12,814,389 RGD:8554872
G SLC24A5 solute carrier family 24 member 5 JBrowse link 15 48,120,972 48,142,392 RGD:13592920
G TYR tyrosinase JBrowse link 11 89,177,565 89,295,759 RGD:8694339
RGD:7240710
RGD:8554872
G TYRP1 tyrosinase related protein 1 JBrowse link 9 12,693,375 12,710,266 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 9,725,413 9,786,260 RGD:8554872
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 3 69,739,435 69,968,337 RGD:7240710
G TYR tyrosinase JBrowse link 11 89,177,565 89,295,759 RGD:7240710
RGD:8554872
oculocutaneous albinism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AMACR alpha-methylacyl-CoA racemase JBrowse link 5 33,986,986 34,008,115 RGD:8554872
G C1QTNF3-AMACR C1QTNF3-AMACR readthrough (NMD candidate) JBrowse link 5 33,986,986 34,124,528 RGD:8554872
G HPS1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 JBrowse link 10 98,416,193 98,446,963 RGD:11354899
G LURAP1L-AS1 LURAP1L antisense RNA 1 JBrowse link 9 12,699,999 12,814,389 RGD:8554872
G MITF melanocyte inducing transcription factor JBrowse link 3 69,739,435 69,968,337 RGD:11554173
G OCA2 OCA2 melanosomal transmembrane protein JBrowse link 15 27,719,008 28,099,342 RGD:8554872
RGD:13592920
G SLC45A2 solute carrier family 45 member 2 JBrowse link 5 33,944,616 33,984,675 RGD:8554872
RGD:13592920
G TYR tyrosinase JBrowse link 11 89,177,565 89,295,759 RGD:1599687
RGD:8554872
RGD:11554173
RGD:8694352
RGD:8694345
RGD:8694338
RGD:1599686
G TYRP1 tyrosinase related protein 1 JBrowse link 9 12,693,375 12,710,266 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 11 89,177,565 89,295,759 RGD:8554872
oculocutaneous albinism type IA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYH7 myosin heavy chain 7 JBrowse link 14 23,412,738 23,435,686 RGD:8554872
G TYR tyrosinase JBrowse link 11 89,177,565 89,295,759 RGD:8694334
RGD:8554872
RGD:11554173
RGD:7240710
RGD:8694340
RGD:8694337
RGD:8694335
oculocutaneous albinism type IB term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYH7 myosin heavy chain 7 JBrowse link 14 23,412,738 23,435,686 RGD:8554872
G TYR tyrosinase JBrowse link 11 89,177,565 89,295,759 RGD:8554872
RGD:7240710
oculocutaneous albinism type II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MC1R melanocortin 1 receptor JBrowse link 16 89,917,879 89,920,977 RGD:8554872
RGD:7240710
G OCA2 OCA2 melanosomal transmembrane protein JBrowse link 15 27,719,008 28,099,342 RGD:9491820
RGD:8554872
RGD:7240710
RGD:9491836
RGD:9491830
RGD:9491821
G TYRP1 tyrosinase related protein 1 JBrowse link 9 12,693,375 12,710,266 RGD:8554872
oculocutaneous albinism type III term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LURAP1L-AS1 LURAP1L antisense RNA 1 JBrowse link 9 12,699,999 12,814,389 RGD:8554872
G TYRP1 tyrosinase related protein 1 JBrowse link 9 12,693,375 12,710,266 RGD:8554872
RGD:7240710
oculocutaneous albinism type IV term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BRCA2 BRCA2 DNA repair associated JBrowse link 13 32,315,480 32,399,672 RGD:8554872
G COL1A2 collagen type I alpha 2 chain JBrowse link 7 94,394,561 94,431,232 RGD:8554872
G MED12 mediator complex subunit 12 JBrowse link X 71,118,556 71,142,454 RGD:8554872
G MYH7 myosin heavy chain 7 JBrowse link 14 23,412,738 23,435,686 RGD:8554872
G SLC45A2 solute carrier family 45 member 2 JBrowse link 5 33,944,616 33,984,675 RGD:1599921
RGD:7240710
RGD:8554872
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 16 89,508,379 89,557,768 RGD:8554872
Oculocutaneous Albinism Type VI term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYEF2 myelin expression factor 2 JBrowse link 15 48,134,632 48,178,517 RGD:8554872
G SLC24A5 solute carrier family 24 member 5 JBrowse link 15 48,120,972 48,142,392 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 10 75,431,646 76,557,375 RGD:8554872
RGD:7240710
piebaldism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GLI3 GLI family zinc finger 3 JBrowse link 7 41,960,949 42,237,019 RGD:12738207
G KIT KIT proto-oncogene, receptor tyrosine kinase JBrowse link 4 54,657,928 54,740,715 RGD:1600045
RGD:8554872
RGD:7240710
RGD:12910729
G SNAI2 snail family transcriptional repressor 2 JBrowse link 8 48,917,677 48,921,440 RGD:1600041
RGD:7240710
RGD:8554872
Skin/Hair/Eye Pigmentation, Variation In, 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYEF2 myelin expression factor 2 JBrowse link 15 48,134,632 48,178,517 RGD:8554872
G SLC24A5 solute carrier family 24 member 5 JBrowse link 15 48,120,972 48,142,392 RGD:8554872
RGD:11554173
Tietz syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MITF melanocyte inducing transcription factor JBrowse link 3 69,739,435 69,968,337 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15498
    sensory system disease 4401
      skin disease 2273
        Genetic Skin Diseases 613
          Albinism 47
            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 + 7
            oculocutaneous albinism + 39
            piebaldism + 6
Path 2
Term Annotations click to browse term
  disease 15498
    disease of anatomical entity 14313
      nervous system disease 10387
        sensory system disease 4401
          eye and adnexa disease 2108
            eye disease 2108
              Hereditary Eye Diseases 548
                Albinism 47
                  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 + 7
                  oculocutaneous albinism + 39
                  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.