ONTOLOGY REPORT - ANNOTATIONS


Term:Albinism
go back to main search page
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.


show annotations for term's descendants       view all columns           Sort by:
 
Albinism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gpr143 G protein-coupled receptor 143 JBrowse link NW_004936644 196,344 236,659 RGD:9068941
G Nrl neural retina leucine zipper JBrowse link NW_004936722 448,006 454,064 RGD:9068941
G Oca2 OCA2 melanosomal transmembrane protein JBrowse link NW_004936471 38,612,450 38,952,150 RGD:9068941
G Tyr tyrosinase JBrowse link NW_004936736 421,623 519,085 RGD:9068941
G Tyrp1 tyrosinase related protein 1 JBrowse link NW_004936539 6,537,448 6,555,440 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_004936721 1,078,570 1,106,153 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 NW_004936471 38,612,450 38,952,150 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_004936603 1,682,411 1,858,295 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_004936471 16,738,204 16,815,561 RGD:9068941
Griscelli syndrome type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myo5a myosin VA JBrowse link NW_004936471 14,105,832 14,257,386 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 NW_004936471 16,738,204 16,815,561 RGD:7240710
RGD:9068941
Griscelli syndrome type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mlph melanophilin JBrowse link NW_004936525 776,102 821,067 RGD:7240710
RGD:9068941
G Myo5a myosin VA JBrowse link NW_004936471 14,105,832 14,257,386 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_004936549 5,964,240 6,205,245 RGD:9068941
G Ap3d1 adaptor related protein complex 3 subunit delta 1 JBrowse link NW_004936588 1,223,646 1,262,577 RGD:9068941
G Bloc1s3 biogenesis of lysosomal organelles complex 1 subunit 3 JBrowse link NW_004936706 1,702,154 1,704,366 RGD:9068941
G Bloc1s4 biogenesis of lysosomal organelles complex 1 subunit 4 JBrowse link NW_004936477 18,618,330 18,619,512 RGD:9068941
G Bloc1s5 biogenesis of lysosomal organelles complex 1 subunit 5 JBrowse link NW_004936534 4,550,592 4,584,482 RGD:9068941
G Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 JBrowse link NW_004936471 8,209,091 8,226,249 RGD:9068941
G Ccl5 C-C motif chemokine ligand 5 JBrowse link NW_004936490 253,279 259,947 RGD:9068941
G Cp ceruloplasmin JBrowse link NW_004936519 6,431,156 6,473,183 RGD:9068941
G Cxcr4 C-X-C motif chemokine receptor 4 JBrowse link NW_004936469 39,794,613 39,798,448 RGD:9068941
G Dtnbp1 dystrobrevin binding protein 1 JBrowse link NW_004936552 1,787,687 1,926,516 RGD:9068941
G Hps1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 JBrowse link NW_004936636 1,407,666 1,430,683 RGD:9068941
G Hps3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 JBrowse link NW_004936519 6,470,077 6,530,897 RGD:9068941
G Hps4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 JBrowse link NW_004936657 1,075,300 1,104,328 RGD:9068941
G Hps5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 JBrowse link NW_004936528 940,372 980,867 RGD:9068941
G Hps6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 JBrowse link NW_004936600 3,754,324 3,757,048 RGD:9068941
G Kxd1 KxDL motif containing 1 JBrowse link NW_004936596 2,711,326 2,719,839 RGD:9068941
G Rab38 RAB38, member RAS oncogene family JBrowse link NW_004936736 1,304,290 1,360,412 RGD:9068941
G Rabggta Rab geranylgeranyltransferase subunit alpha JBrowse link NW_004936722 283,682 289,548 RGD:9068941
G Slc7a11 solute carrier family 7 member 11 JBrowse link NW_004936535 9,177,305 9,242,743 RGD:9068941
G Trappc6a trafficking protein particle complex 6A JBrowse link NW_004936706 1,694,050 1,701,746 RGD:9068941
G Vps33a VPS33A core subunit of CORVET and HOPS complexes JBrowse link NW_004936558 2,227,305 2,257,725 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_004936588 1,223,646 1,262,577 RGD:9068941
G Dtnbp1 dystrobrevin binding protein 1 JBrowse link NW_004936552 1,787,687 1,926,516 RGD:9068941
G Hps1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 JBrowse link NW_004936636 1,407,666 1,430,683 RGD:7240710
RGD:9068941
G Rab27a RAB27A, member RAS oncogene family JBrowse link NW_004936471 16,738,204 16,815,561 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_004936588 1,223,646 1,262,577 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_004936549 5,964,240 6,205,245 RGD:7240710
RGD:9068941
G Ap3d1 adaptor related protein complex 3 subunit delta 1 JBrowse link NW_004936588 1,223,646 1,262,577 RGD:9068941
Hermansky-Pudlak syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cp ceruloplasmin JBrowse link NW_004936519 6,431,156 6,473,183 RGD:9068941
G Hps3 HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 JBrowse link NW_004936519 6,470,077 6,530,897 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 NW_004936657 1,075,300 1,104,328 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 NW_004936528 940,372 980,867 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 NW_004936600 3,754,324 3,757,048 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 NW_004936552 1,787,687 1,926,516 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 NW_004936706 1,702,154 1,704,366 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 NW_004936471 8,209,091 8,226,249 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 NW_004936644 196,344 236,659 RGD:9068941
G Slc24a5 solute carrier family 24 member 5 JBrowse link NW_004936471 10,470,078 10,492,334 RGD:9068941
G Tyr tyrosinase JBrowse link NW_004936736 421,623 519,085 RGD:9068941
RGD:7240710
G Tyrp1 tyrosinase related protein 1 JBrowse link NW_004936539 6,537,448 6,555,440 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_004936644 196,344 236,659 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 NW_004936603 1,682,411 1,858,295 RGD:7240710
RGD:9068941
G Tyr tyrosinase JBrowse link NW_004936736 421,623 519,085 RGD:7240710
RGD:9068941
oculocutaneous albinism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Amacr alpha-methylacyl-CoA racemase JBrowse link NW_004936518 7,072,436 7,088,927 RGD:9068941
G Hps1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 JBrowse link NW_004936636 1,407,666 1,430,683 RGD:9068941
G Mitf melanocyte inducing transcription factor JBrowse link NW_004936603 1,682,411 1,858,295 RGD:9068941
G Oca2 OCA2 melanosomal transmembrane protein JBrowse link NW_004936471 38,612,450 38,952,150 RGD:9068941
G Slc45a2 solute carrier family 45 member 2 JBrowse link NW_004936518 7,094,949 7,139,961 RGD:9068941
G Tyr tyrosinase JBrowse link NW_004936736 421,623 519,085 RGD:9068941
G Tyrp1 tyrosinase related protein 1 JBrowse link NW_004936539 6,537,448 6,555,440 RGD:9068941
Oculocutaneous Albinism Type I, Temperature-Sensitive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tyr tyrosinase JBrowse link NW_004936736 421,623 519,085 RGD:9068941
oculocutaneous albinism type IA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC101972165 myosin-7 JBrowse link NW_004936722 967,443 991,530 RGD:9068941
G Tyr tyrosinase JBrowse link NW_004936736 421,623 519,085 RGD:7240710
RGD:9068941
oculocutaneous albinism type IB term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC101972165 myosin-7 JBrowse link NW_004936722 967,443 991,530 RGD:9068941
G Tyr tyrosinase JBrowse link NW_004936736 421,623 519,085 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 NW_004936641 193,885 198,730 RGD:7240710
RGD:9068941
G Oca2 OCA2 melanosomal transmembrane protein JBrowse link NW_004936471 38,612,450 38,952,150 RGD:7240710
RGD:9068941
G Tyrp1 tyrosinase related protein 1 JBrowse link NW_004936539 6,537,448 6,555,440 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_004936539 6,537,448 6,555,440 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 NW_004936472 26,945,659 27,017,693 RGD:9068941
G Col1a2 collagen type I alpha 2 chain JBrowse link NW_004936585 5,650,322 5,686,393 RGD:9068941
G LOC101972165 myosin-7 JBrowse link NW_004936722 967,443 991,530 RGD:9068941
G Med12 mediator complex subunit 12 JBrowse link NW_004936762 460,342 483,264 RGD:9068941
G Slc45a2 solute carrier family 45 member 2 JBrowse link NW_004936518 7,094,949 7,139,961 RGD:7240710
RGD:9068941
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link NW_004936641 451,762 484,229 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_004936471 10,492,548 10,519,549 RGD:9068941
G Slc24a5 solute carrier family 24 member 5 JBrowse link NW_004936471 10,470,078 10,492,334 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 NW_004936521 2,959,770 3,637,431 RGD:7240710
RGD:9068941
piebaldism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gli3 GLI family zinc finger 3 JBrowse link NW_004936478 17,129,922 17,403,630 RGD:9068941
G Kit KIT proto-oncogene, receptor tyrosine kinase JBrowse link NW_004936482 17,162,854 17,238,319 RGD:7240710
RGD:9068941
G Snai2 snail family transcriptional repressor 2 JBrowse link NW_004936590 3,813,916 3,817,642 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 NW_004936471 10,492,548 10,519,549 RGD:9068941
G Slc24a5 solute carrier family 24 member 5 JBrowse link NW_004936471 10,470,078 10,492,334 RGD:9068941
Tietz syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mitf melanocyte inducing transcription factor JBrowse link NW_004936603 1,682,411 1,858,295 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 10652
    sensory system disease 3762
      skin disease 1969
        Genetic Skin Diseases 533
          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 10652
    disease of anatomical entity 10186
      nervous system disease 7878
        sensory system disease 3762
          eye and adnexa disease 1807
            eye disease 1807
              Hereditary Eye Diseases 463
                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

NHLBI Logo

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