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 NW_004955499 7,900,276 7,953,847 RGD:9068941
G Nrl neural retina leucine zipper JBrowse link NW_004955409 36,279,996 36,313,824 RGD:9068941
G Oca2 OCA2 melanosomal transmembrane protein JBrowse link NW_004955533 1,522,878 1,796,673 RGD:9068941
G Tyr tyrosinase JBrowse link NW_004955414 4,244,035 4,314,001 RGD:9068941
G Tyrp1 tyrosinase related protein 1 JBrowse link NW_004955434 15,913,208 15,932,193 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_004955543 692,035 717,364 RGD:9068941
RGD:7240710
Brown Oculocutaneous Albinism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Oca2 OCA2 melanosomal transmembrane protein JBrowse link NW_004955533 1,522,878 1,796,673 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_004955421 17,948,117 18,157,379 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 NW_004955409 588,725 621,874 RGD:9068941
Griscelli syndrome type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myo5a myosin VA JBrowse link NW_004955409 2,409,503 2,530,539 RGD:9068941
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 NW_004955409 588,725 621,874 RGD:9068941
RGD:7240710
Griscelli syndrome type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mlph melanophilin JBrowse link NW_004955542 2,769,709 2,807,768 RGD:9068941
RGD:7240710
G Myo5a myosin VA JBrowse link NW_004955409 2,409,503 2,530,539 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_004955425 22,792,616 23,051,509 RGD:9068941
G Ap3d1 adaptor related protein complex 3 subunit delta 1 JBrowse link NW_004955495 5,972,177 6,012,525 RGD:9068941
G Bloc1s3 biogenesis of lysosomal organelles complex 1 subunit 3 JBrowse link NW_004955555 2,183,752 2,186,154 RGD:9068941
G Bloc1s4 biogenesis of lysosomal organelles complex 1 subunit 4 JBrowse link NW_004955514 3,698,644 3,699,227 RGD:9068941
G Bloc1s5 biogenesis of lysosomal organelles complex 1 subunit 5 JBrowse link NW_004955465 5,910,095 5,943,996 RGD:9068941
G Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 JBrowse link NW_004955409 7,902,125 7,913,966 RGD:9068941
G Ccl5 C-C motif chemokine ligand 5 JBrowse link NW_004955481 10,293,758 10,301,118 RGD:9068941
G Cp ceruloplasmin JBrowse link NW_004955448 470,063 522,909 RGD:9068941
G Cxcr4 C-X-C motif chemokine receptor 4 JBrowse link NW_004955440 3,456,165 3,460,024 RGD:9068941
G Dtnbp1 dystrobrevin binding protein 1 JBrowse link NW_004955590 276,143 382,812 RGD:9068941
G Hps1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 JBrowse link NW_004955507 4,408,428 4,433,219 RGD:9068941
G Hps3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 JBrowse link NW_004955448 438,152 465,955 RGD:9068941
G Hps4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 JBrowse link NW_004955455 1,048,946 1,076,097 RGD:9068941
G Hps5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 JBrowse link NW_004955414 32,992,669 33,028,620 RGD:9068941
G Hps6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 JBrowse link NW_004955485 8,270,997 8,273,060 RGD:9068941
G Kxd1 KxDL motif containing 1 JBrowse link NW_004955524 3,010,997 3,018,309 RGD:9068941
G Rab38 RAB38, member RAS oncogene family JBrowse link NW_004955414 5,158,860 5,214,108 RGD:9068941
G Slc7a11 solute carrier family 7 member 11 JBrowse link NW_004955428 5,238,460 5,309,085 RGD:9068941
G Vps33a VPS33A core subunit of CORVET and HOPS complexes JBrowse link NW_004955482 6,333,282 6,352,369 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_004955495 5,972,177 6,012,525 RGD:9068941
G Dtnbp1 dystrobrevin binding protein 1 JBrowse link NW_004955590 276,143 382,812 RGD:9068941
G Hps1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 JBrowse link NW_004955507 4,408,428 4,433,219 RGD:9068941
RGD:7240710
G Rab27a RAB27A, member RAS oncogene family JBrowse link NW_004955409 588,725 621,874 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_004955495 5,972,177 6,012,525 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_004955425 22,792,616 23,051,509 RGD:9068941
RGD:7240710
G Ap3d1 adaptor related protein complex 3 subunit delta 1 JBrowse link NW_004955495 5,972,177 6,012,525 RGD:9068941
Hermansky-Pudlak syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cp ceruloplasmin JBrowse link NW_004955448 470,063 522,909 RGD:9068941
G Hps3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 JBrowse link NW_004955448 438,152 465,955 RGD:9068941
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 NW_004955455 1,048,946 1,076,097 RGD:9068941
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 NW_004955414 32,992,669 33,028,620 RGD:9068941
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 NW_004955485 8,270,997 8,273,060 RGD:9068941
RGD:7240710
Hermansky-Pudlak syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dtnbp1 dystrobrevin binding protein 1 JBrowse link NW_004955590 276,143 382,812 RGD:9068941
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 NW_004955555 2,183,752 2,186,154 RGD:9068941
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 NW_004955409 7,902,125 7,913,966 RGD:9068941
RGD:7240710
ocular albinism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gpr143 G protein-coupled receptor 143 JBrowse link NW_004955499 7,900,276 7,953,847 RGD:9068941
G Slc24a5 solute carrier family 24 member 5 JBrowse link NW_004955409 5,747,624 5,768,122 RGD:9068941
G Tyr tyrosinase JBrowse link NW_004955414 4,244,035 4,314,001 RGD:9068941
RGD:7240710
G Tyrp1 tyrosinase related protein 1 JBrowse link NW_004955434 15,913,208 15,932,193 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_004955499 7,900,276 7,953,847 RGD:9068941
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 NW_004955421 17,948,117 18,157,379 RGD:9068941
RGD:7240710
G Tyr tyrosinase JBrowse link NW_004955414 4,244,035 4,314,001 RGD:9068941
RGD:7240710
oculocutaneous albinism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Amacr alpha-methylacyl-CoA racemase JBrowse link NW_004955426 19,570,179 19,580,920 RGD:9068941
G Hps1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 JBrowse link NW_004955507 4,408,428 4,433,219 RGD:9068941
G Mitf melanocyte inducing transcription factor JBrowse link NW_004955421 17,948,117 18,157,379 RGD:9068941
G Oca2 OCA2 melanosomal transmembrane protein JBrowse link NW_004955533 1,522,878 1,796,673 RGD:9068941
G Slc45a2 solute carrier family 45 member 2 JBrowse link NW_004955426 19,498,942 19,530,628 RGD:9068941
G Tyr tyrosinase JBrowse link NW_004955414 4,244,035 4,314,001 RGD:9068941
G Tyrp1 tyrosinase related protein 1 JBrowse link NW_004955434 15,913,208 15,932,193 RGD:9068941
Oculocutaneous Albinism Type I, Temperature-Sensitive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tyr tyrosinase JBrowse link NW_004955414 4,244,035 4,314,001 RGD:9068941
oculocutaneous albinism type IA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tyr tyrosinase JBrowse link NW_004955414 4,244,035 4,314,001 RGD:9068941
RGD:7240710
oculocutaneous albinism type IB term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tyr tyrosinase JBrowse link NW_004955414 4,244,035 4,314,001 RGD:9068941
RGD:7240710
oculocutaneous albinism type II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Oca2 OCA2 melanosomal transmembrane protein JBrowse link NW_004955533 1,522,878 1,796,673 RGD:9068941
RGD:7240710
G Tyrp1 tyrosinase related protein 1 JBrowse link NW_004955434 15,913,208 15,932,193 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_004955434 15,913,208 15,932,193 RGD:9068941
RGD:7240710
oculocutaneous albinism type IV term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brca2 BRCA2 DNA repair associated JBrowse link NW_004955431 13,449,287 13,526,878 RGD:9068941
G Col1a2 collagen type I alpha 2 chain JBrowse link NW_004955432 11,127,961 11,164,145 RGD:9068941
G Med12 mediator complex subunit 12 JBrowse link NW_004955475 10,687,168 10,710,286 RGD:9068941
G Slc45a2 solute carrier family 45 member 2 JBrowse link NW_004955426 19,498,942 19,530,628 RGD:9068941
RGD:7240710
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link NW_004955541 3,092,968 3,141,157 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_004955409 5,713,495 5,747,528 RGD:9068941
G Slc24a5 solute carrier family 24 member 5 JBrowse link NW_004955409 5,747,624 5,768,122 RGD:9068941
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 NW_004955437 15,678,397 16,173,214 RGD:9068941
RGD:7240710
piebaldism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gli3 GLI family zinc finger 3 JBrowse link NW_004955460 1,528,457 1,805,584 RGD:9068941
G Kit KIT proto-oncogene, receptor tyrosine kinase JBrowse link NW_004955447 16,149,014 16,226,151 RGD:9068941
RGD:7240710
G Snai2 snail family transcriptional repressor 2 JBrowse link NW_004955454 8,759,860 8,763,603 RGD:9068941
RGD:7240710
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_004955409 5,713,495 5,747,528 RGD:9068941
G Slc24a5 solute carrier family 24 member 5 JBrowse link NW_004955409 5,747,624 5,768,122 RGD:9068941
Tietz syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mitf melanocyte inducing transcription factor JBrowse link NW_004955421 17,948,117 18,157,379 RGD:9068941
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 10494
    sensory system disease 3700
      skin disease 1927
        Genetic Skin Diseases 522
          Albinism 41
            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 + 33
            piebaldism + 6
Path 2
Term Annotations click to browse term
  disease 10494
    disease of anatomical entity 10043
      nervous system disease 7751
        sensory system disease 3700
          eye and adnexa disease 1781
            eye disease 1781
              Hereditary Eye Diseases 454
                Albinism 41
                  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 + 33
                  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.