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
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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 6,438,068 6,479,731 RGD:9068941
G NRL neural retina leucine zipper JBrowse link 8 4,086,487 4,090,373 RGD:9068941
G OCA2 OCA2 melanosomal transmembrane protein JBrowse link 3 32,361,825 32,713,631 RGD:9068941
G TYR tyrosinase JBrowse link 21 10,799,940 10,894,187 RGD:9068941
G TYRP1 tyrosinase related protein 1 JBrowse link 11 33,317,084 33,336,029 RGD:9068941
Aland Island eye disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CACNA1F calcium voltage-gated channel subunit alpha1 F JBrowse link X 42,302,971 42,327,787 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 3 32,361,825 32,713,631 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 20 21,772,147 21,873,545 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 30 20,633,576 20,706,240 RGD:9068941
Griscelli syndrome type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYO5A myosin VA JBrowse link 30 17,990,521 18,122,160 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 30 20,633,576 20,706,240 RGD:7240710
RGD:9068941
Griscelli syndrome type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MLPH melanophilin JBrowse link 25 48,121,499 48,167,535 RGD:7240710
RGD:9068941
G MYO5A myosin VA JBrowse link 30 17,990,521 18,122,160 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 3 28,481,974 28,748,095 RGD:9068941
G AP3D1 adaptor related protein complex 3 subunit delta 1 JBrowse link 20 56,893,479 56,932,460 RGD:9068941
G BLOC1S3 biogenesis of lysosomal organelles complex 1 subunit 3 JBrowse link 1 110,325,351 110,328,226 RGD:9068941
G BLOC1S4 biogenesis of lysosomal organelles complex 1 subunit 4 JBrowse link 3 58,822,405 58,823,770 RGD:9068941
G BLOC1S5 biogenesis of lysosomal organelles complex 1 subunit 5 JBrowse link 35 7,860,336 7,998,461 RGD:9068941
G BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 JBrowse link 30 11,861,119 11,949,451 RGD:9068941
G CCL5 C-C motif chemokine ligand 5 JBrowse link 9 37,817,409 37,823,852 RGD:9068941
G CP ceruloplasmin JBrowse link 23 43,969,297 44,033,226 RGD:9068941
G CXCR4 C-X-C motif chemokine receptor 4 JBrowse link 19 38,874,650 38,877,740 RGD:9068941
G DTNBP1 dystrobrevin binding protein 1 JBrowse link 35 14,738,025 14,862,609 RGD:9068941
G HPS1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 JBrowse link 28 11,547,457 11,572,248 RGD:9068941
G HPS3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 JBrowse link 23 43,939,829 43,979,446 RGD:9068941
G HPS4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 JBrowse link 26 20,131,658 20,157,532 RGD:9068941
G HPS5 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 JBrowse link 21 40,725,089 40,770,665 RGD:9068941
G HPS6 HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 JBrowse link 28 14,614,434 14,617,138 RGD:9068941
G KXD1 KxDL motif containing 1 JBrowse link 20 44,480,634 44,489,287 RGD:9068941
G RAB38 RAB38, member RAS oncogene family JBrowse link 21 11,769,924 11,823,546 RGD:9068941
G RABGGTA Rab geranylgeranyltransferase subunit alpha JBrowse link 8 4,244,731 4,250,836 RGD:9068941
G SLC7A11 solute carrier family 7 member 11 JBrowse link 19 4,289,792 4,379,060 RGD:9068941
G TRAPPC6A trafficking protein particle complex 6A JBrowse link 1 110,328,448 110,339,394 RGD:9068941
G VPS33A VPS33A core subunit of CORVET and HOPS complexes JBrowse link 26 7,090,669 7,119,913 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 20 56,893,479 56,932,460 RGD:9068941
G DTNBP1 dystrobrevin binding protein 1 JBrowse link 35 14,738,025 14,862,609 RGD:9068941
G HPS1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 JBrowse link 28 11,547,457 11,572,248 RGD:7240710
RGD:9068941
G RAB27A RAB27A, member RAS oncogene family JBrowse link 30 20,633,576 20,706,240 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 20 56,893,479 56,932,460 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 3 28,481,974 28,748,095 RGD:7240710
RGD:9068941
G AP3D1 adaptor related protein complex 3 subunit delta 1 JBrowse link 20 56,893,479 56,932,460 RGD:9068941
Hermansky-Pudlak syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CP ceruloplasmin JBrowse link 23 43,969,297 44,033,226 RGD:9068941
G HPS3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 JBrowse link 23 43,939,829 43,979,446 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 26 20,131,658 20,157,532 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 21 40,725,089 40,770,665 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 28 14,614,434 14,617,138 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 35 14,738,025 14,862,609 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 1 110,325,351 110,328,226 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 30 11,861,119 11,949,451 RGD:7240710
RGD:9068941
ocular albinism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GPR143 G protein-coupled receptor 143 JBrowse link X 6,438,068 6,479,731 RGD:9068941
G SLC24A5 solute carrier family 24 member 5 JBrowse link 30 14,372,019 14,400,262 RGD:9068941
G TYR tyrosinase JBrowse link 21 10,799,940 10,894,187 RGD:9068941
RGD:7240710
G TYRP1 tyrosinase related protein 1 JBrowse link 11 33,317,084 33,336,029 RGD:9068941
Ocular Albinism Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GPR143 G protein-coupled receptor 143 JBrowse link X 6,438,068 6,479,731 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 20 21,772,147 21,873,545 RGD:7240710
RGD:9068941
G TYR tyrosinase JBrowse link 21 10,799,940 10,894,187 RGD:7240710
RGD:9068941
oculocutaneous albinism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AMACR alpha-methylacyl-CoA racemase JBrowse link 4 73,815,438 73,836,016 RGD:9068941
G HPS1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 JBrowse link 28 11,547,457 11,572,248 RGD:9068941
G MITF melanocyte inducing transcription factor JBrowse link 20 21,772,147 21,873,545 RGD:9068941
G OCA2 OCA2 melanosomal transmembrane protein JBrowse link 3 32,361,825 32,713,631 RGD:9068941
G SLC45A2 solute carrier family 45 member 2 JBrowse link 4 73,838,684 73,868,222 RGD:9068941
G TYR tyrosinase JBrowse link 21 10,799,940 10,894,187 RGD:9068941
G TYRP1 tyrosinase related protein 1 JBrowse link 11 33,317,084 33,336,029 RGD:9068941
Oculocutaneous Albinism Type I, Temperature-Sensitive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TYR tyrosinase JBrowse link 21 10,799,940 10,894,187 RGD:9068941
oculocutaneous albinism type IA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYH7 myosin heavy chain 7 JBrowse link 8 3,660,155 3,677,650 RGD:9068941
G TYR tyrosinase JBrowse link 21 10,799,940 10,894,187 RGD:7240710
RGD:9068941
oculocutaneous albinism type IB term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYH7 myosin heavy chain 7 JBrowse link 8 3,660,155 3,677,650 RGD:9068941
G TYR tyrosinase JBrowse link 21 10,799,940 10,894,187 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 5 63,694,296 63,695,249 RGD:7240710
RGD:9068941
G OCA2 OCA2 melanosomal transmembrane protein JBrowse link 3 32,361,825 32,713,631 RGD:7240710
RGD:9068941
RGD:12801476
G TYRP1 tyrosinase related protein 1 JBrowse link 11 33,317,084 33,336,029 RGD:9068941
oculocutaneous albinism type III term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TYRP1 tyrosinase related protein 1 JBrowse link 11 33,317,084 33,336,029 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 25 7,734,450 7,797,851 RGD:9068941
G COL1A2 collagen type I alpha 2 chain JBrowse link 14 19,883,731 19,919,527 RGD:9068941
G MED12 mediator complex subunit 12 JBrowse link X 55,487,629 55,508,941 RGD:9068941
G MYH7 myosin heavy chain 7 JBrowse link 8 3,660,155 3,677,650 RGD:9068941
G SLC45A2 solute carrier family 45 member 2 JBrowse link 4 73,838,684 73,868,222 RGD:7240710
RGD:9068941
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 5 63,984,716 64,023,271 RGD:9068941
Oculocutaneous Albinism Type VI term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYEF2 myelin expression factor 2 JBrowse link 30 14,399,747 14,447,113 RGD:9068941
G SLC24A5 solute carrier family 24 member 5 JBrowse link 30 14,372,019 14,400,262 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 4 25,610,656 26,636,351 RGD:7240710
RGD:9068941
piebaldism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GLI3 GLI family zinc finger 3 JBrowse link 18 7,800,817 8,071,531 RGD:9068941
G KIT KIT proto-oncogene receptor tyrosine kinase JBrowse link 13 47,108,442 47,190,935 RGD:7240710
RGD:9068941
G SNAI2 snail family transcriptional repressor 2 JBrowse link 29 1,154,132 1,156,653 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 30 14,399,747 14,447,113 RGD:9068941
G SLC24A5 solute carrier family 24 member 5 JBrowse link 30 14,372,019 14,400,262 RGD:9068941
Tietz syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MITF melanocyte inducing transcription factor JBrowse link 20 21,772,147 21,873,545 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11243
    sensory system disease 3906
      skin disease 2057
        Genetic Skin Diseases 559
          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 11243
    disease of anatomical entity 10752
      nervous system disease 8285
        sensory system disease 3906
          eye and adnexa disease 1866
            eye disease 1866
              Hereditary Eye Diseases 486
                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.