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 9,609,597 9,650,069 RGD:9068941
G NRL neural retina leucine zipper JBrowse link 14 22,982,367 23,015,912 RGD:9068941
G OCA2 OCA2 melanosomal transmembrane protein JBrowse link 15 25,181,417 25,523,703 RGD:9068941
G TYR tyrosinase JBrowse link 11 87,769,989 87,888,138 RGD:9068941
G TYRP1 tyrosinase related protein 1 JBrowse link 9 12,950,831 12,996,808 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 49,356,994 49,385,678 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 15 25,181,417 25,523,703 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 3 71,037,671 71,265,445 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 15 52,498,202 52,584,731 RGD:9068941
Griscelli syndrome type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYO5A myosin VA JBrowse link 15 49,572,084 49,699,507 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 15 52,498,202 52,584,731 RGD:7240710
RGD:9068941
Griscelli syndrome type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MLPH melanophilin JBrowse link 2B 243,569,782 243,633,177 RGD:7240710
RGD:9068941
G MYO5A myosin VA JBrowse link 15 49,572,084 49,699,507 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 5 37,502,986 37,835,904 RGD:9068941
G AP3D1 adaptor related protein complex 3 subunit delta 1 JBrowse link 19 2,084,349 2,135,058 RGD:9068941
G BLOC1S4 biogenesis of lysosomal organelles complex 1 subunit 4 JBrowse link 4 6,787,798 6,789,100 RGD:9068941
G BLOC1S5 biogenesis of lysosomal organelles complex 1 subunit 5 JBrowse link 6 8,133,721 8,184,127 RGD:9068941
G BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 JBrowse link 15 42,862,114 42,882,321 RGD:9068941
G CCL5 C-C motif chemokine ligand 5 JBrowse link 17 21,210,798 21,219,172 RGD:9068941
G CP ceruloplasmin JBrowse link 3 153,768,362 153,817,591 RGD:9068941
G CXCR4 C-X-C motif chemokine receptor 4 JBrowse link 2B 140,185,803 140,189,626 RGD:9068941
G DTNBP1 dystrobrevin binding protein 1 JBrowse link 6 15,741,698 15,887,039 RGD:9068941
G HPS1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 JBrowse link 10 98,526,127 98,556,629 RGD:9068941
G HPS3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 JBrowse link 3 153,725,008 153,769,060 RGD:9068941
G HPS4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 JBrowse link 22 25,235,761 25,268,699 RGD:9068941
G HPS5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 JBrowse link 11 17,991,610 18,042,848 RGD:9068941
G HPS6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 JBrowse link 10 102,139,235 102,142,002 RGD:9068941
G KXD1 KxDL motif containing 1 JBrowse link 19 19,005,136 19,016,552 RGD:9068941
G RAB38 RAB38, member RAS oncogene family JBrowse link 11 86,710,358 86,772,796 RGD:9068941
G RABGGTA Rab geranylgeranyltransferase subunit alpha JBrowse link 14 23,165,254 23,171,339 RGD:9068941
G SLC7A11 solute carrier family 7 member 11 JBrowse link 4 141,841,526 141,919,678 RGD:9068941
G TRAPPC6A trafficking protein particle complex 6A JBrowse link 19 50,713,498 50,727,579 RGD:9068941
G VPS33A VPS33A core subunit of CORVET and HOPS complexes JBrowse link 12 123,200,964 123,236,132 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 19 2,084,349 2,135,058 RGD:9068941
G DTNBP1 dystrobrevin binding protein 1 JBrowse link 6 15,741,698 15,887,039 RGD:9068941
G HPS1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 JBrowse link 10 98,526,127 98,556,629 RGD:7240710
RGD:9068941
G RAB27A RAB27A, member RAS oncogene family JBrowse link 15 52,498,202 52,584,731 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 19 2,084,349 2,135,058 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 5 37,502,986 37,835,904 RGD:7240710
RGD:9068941
G AP3D1 adaptor related protein complex 3 subunit delta 1 JBrowse link 19 2,084,349 2,135,058 RGD:9068941
Hermansky-Pudlak syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CP ceruloplasmin JBrowse link 3 153,768,362 153,817,591 RGD:9068941
G HPS3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 JBrowse link 3 153,725,008 153,769,060 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 22 25,235,761 25,268,699 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 11 17,991,610 18,042,848 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 10 102,139,235 102,142,002 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 6 15,741,698 15,887,039 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 15 42,862,114 42,882,321 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 9,609,597 9,650,069 RGD:9068941
G SLC24A5 solute carrier family 24 member 5 JBrowse link 15 45,394,090 45,415,550 RGD:9068941
G TYR tyrosinase JBrowse link 11 87,769,989 87,888,138 RGD:9068941
RGD:7240710
G TYRP1 tyrosinase related protein 1 JBrowse link 9 12,950,831 12,996,808 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 9,609,597 9,650,069 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 3 71,037,671 71,265,445 RGD:7240710
RGD:9068941
G TYR tyrosinase JBrowse link 11 87,769,989 87,888,138 RGD:7240710
RGD:9068941
oculocutaneous albinism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AMACR alpha-methylacyl-CoA racemase JBrowse link 5 81,722,973 81,742,806 RGD:9068941
G HPS1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 JBrowse link 10 98,526,127 98,556,629 RGD:9068941
G MITF melanocyte inducing transcription factor JBrowse link 3 71,037,671 71,265,445 RGD:9068941
G OCA2 OCA2 melanosomal transmembrane protein JBrowse link 15 25,181,417 25,523,703 RGD:9068941
G SLC45A2 solute carrier family 45 member 2 JBrowse link 5 81,743,254 81,784,565 RGD:9068941
G TYR tyrosinase JBrowse link 11 87,769,989 87,888,138 RGD:9068941
G TYRP1 tyrosinase related protein 1 JBrowse link 9 12,950,831 12,996,808 RGD:9068941
Oculocutaneous Albinism Type I, Temperature-Sensitive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TYR tyrosinase JBrowse link 11 87,769,989 87,888,138 RGD:9068941
oculocutaneous albinism type IA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC100978529 myosin-7 JBrowse link 14 22,325,814 22,348,763 RGD:9068941
G TYR tyrosinase JBrowse link 11 87,769,989 87,888,138 RGD:7240710
RGD:9068941
oculocutaneous albinism type IB term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC100978529 myosin-7 JBrowse link 14 22,325,814 22,348,763 RGD:9068941
G TYR tyrosinase JBrowse link 11 87,769,989 87,888,138 RGD:7240710
RGD:9068941
oculocutaneous albinism type II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G OCA2 OCA2 melanosomal transmembrane protein JBrowse link 15 25,181,417 25,523,703 RGD:7240710
RGD:9068941
G TYRP1 tyrosinase related protein 1 JBrowse link 9 12,950,831 12,996,808 RGD:9068941
oculocutaneous albinism type III term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TYRP1 tyrosinase related protein 1 JBrowse link 9 12,950,831 12,996,808 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 13 32,009,039 32,092,463 RGD:9068941
G COL1A2 collagen type I alpha 2 chain JBrowse link 7 99,935,185 99,971,810 RGD:9068941
G LOC100978529 myosin-7 JBrowse link 14 22,325,814 22,348,763 RGD:9068941
G MED12 mediator complex subunit 12 JBrowse link X 70,443,467 70,467,178 RGD:9068941
G SLC45A2 solute carrier family 45 member 2 JBrowse link 5 81,743,254 81,784,565 RGD:7240710
RGD:9068941
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 16 89,866,884 89,917,867 RGD:9068941
Oculocutaneous Albinism Type VI term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYEF2 myelin expression factor 2 JBrowse link 15 45,412,593 45,442,003 RGD:9068941
G SLC24A5 solute carrier family 24 member 5 JBrowse link 15 45,394,090 45,415,550 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 10 74,974,055 75,747,123 RGD:7240710
RGD:9068941
piebaldism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GLI3 GLI family zinc finger 3 JBrowse link 7 42,056,566 42,322,865 RGD:9068941
G KIT KIT proto-oncogene, receptor tyrosine kinase JBrowse link 4 75,761,946 75,844,473 RGD:7240710
RGD:9068941
G SNAI2 snail family transcriptional repressor 2 JBrowse link 8 42,727,135 42,730,736 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 15 45,412,593 45,442,003 RGD:9068941
G SLC24A5 solute carrier family 24 member 5 JBrowse link 15 45,394,090 45,415,550 RGD:9068941
Tietz syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MITF melanocyte inducing transcription factor JBrowse link 3 71,037,671 71,265,445 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11150
    sensory system disease 3849
      skin disease 2031
        Genetic Skin Diseases 555
          Albinism 43
            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 + 35
            piebaldism + 6
Path 2
Term Annotations click to browse term
  disease 11150
    disease of anatomical entity 10664
      nervous system disease 8186
        sensory system disease 3849
          eye and adnexa disease 1840
            eye disease 1840
              Hereditary Eye Diseases 474
                Albinism 43
                  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 + 35
                  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.