ONTOLOGY REPORT - ANNOTATIONS


Term:oculocutaneous albinism
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Accession:DOID:0050632 term browser browse the term
Definition:Heterogeneous group of autosomal recessive disorders comprising at least four recognized types, all having in common varying degrees of hypopigmentation of the skin, hair, and eyes. The two most common are the tyrosinase-positive and tyrosinase-negative types.
Synonyms:exact_synonym: tyrosinase-negative albinism;   tyrosinase-positive albinism;   yellow mutant albinism
 primary_id: MESH:D016115
 alt_id: RDO:0002645
 xref: GARD:10958;   OMIM:PS203100;   ORDO:55
For additional species annotation, visit the Alliance of Genome Resources.


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oculocutaneous albinism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Amacr alpha-methylacyl-CoA racemase JBrowse link 2 60,949,276 60,961,342 RGD:8554872
G Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 JBrowse link 1 261,989,178 262,015,282 RGD:11354899
G Mitf melanocyte inducing transcription factor JBrowse link 4 130,172,484 130,425,496 RGD:11554173
G Oca2 OCA2 melanosomal transmembrane protein JBrowse link 1 114,661,970 114,987,433 RGD:8554872
RGD:13592920
G Slc45a2 solute carrier family 45, member 2 JBrowse link 2 60,966,671 60,999,398 RGD:8554872
RGD:13592920
G Tyr tyrosinase JBrowse link 1 151,012,598 151,106,802 RGD:1599687
RGD:8554872
RGD:11554173
RGD:8694352
RGD:8694345
RGD:8694338
RGD:1599686
G Tyrp1 tyrosinase-related protein 1 JBrowse link 5 98,387,291 98,406,083 RGD:1599692
RGD:8554872
Brown Oculocutaneous Albinism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Oca2 OCA2 melanosomal transmembrane protein JBrowse link 1 114,661,970 114,987,433 RGD:9491819
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 2 24,022,815 24,227,522 RGD:1578409
RGD:8554872
RGD:11087577
RGD:11087576
G Ap3d1 adaptor related protein complex 3 subunit delta 1 JBrowse link 7 11,838,639 11,873,992 RGD:11554173
G Bloc1s3 biogenesis of lysosomal organelles complex-1, subunit 3 JBrowse link 1 80,414,766 80,417,385 RGD:8554872
RGD:11554173
G Bloc1s4 biogenesis of lysosomal organelles complex 1 subunit 4 JBrowse link 14 79,013,808 79,015,108 RGD:13592920
G Bloc1s5 biogenesis of lysosomal organelles complex 1 subunit 5 JBrowse link 17 26,808,193 26,833,257 RGD:13592920
G Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 JBrowse link 3 114,869,478 114,880,218 RGD:8554872
RGD:11554173
G Ccl5 C-C motif chemokine ligand 5 JBrowse link 10 70,739,764 70,744,303 RGD:4891476
G Cp ceruloplasmin JBrowse link 2 104,744,249 104,803,034 RGD:8554872
G Cxcr4 C-X-C motif chemokine receptor 4 JBrowse link 13 45,314,952 45,318,856 RGD:11352293
G Dtnbp1 dystrobrevin binding protein 1 JBrowse link 17 20,090,136 20,182,332 RGD:11251756
RGD:11554173
RGD:8554872
G Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 JBrowse link 1 261,989,178 262,015,282 RGD:8554872
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 JBrowse link 2 104,789,423 104,832,964 RGD:1599538
RGD:8554872
RGD:11554173
G Hps4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 JBrowse link 12 50,285,239 50,315,893 RGD:1599546
RGD:11554173
RGD:8554872
RGD:11354897
RGD:11353873
G Hps5 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 JBrowse link 1 102,810,114 102,849,430 RGD:11072072
RGD:11554173
RGD:8554872
G Hps6 HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 JBrowse link 1 265,761,818 265,764,427 RGD:632833
RGD:11554173
RGD:8554872
RGD:11073544
G Kxd1 KxDL motif containing 1 JBrowse link 16 20,652,863 20,666,581 RGD:13592920
G Rab38 RAB38, member RAS oncogene family JBrowse link 1 152,072,716 152,153,449 RGD:2324690
G Rab38ru Rab38, member of RAS oncogene family, ruby allele RGD:2324690
G Rabggta Rab geranylgeranyltransferase subunit alpha JBrowse link 15 34,393,419 34,400,466 RGD:13592920
G Slc7a11 solute carrier family 7 member 11 JBrowse link 2 139,453,774 139,528,479 RGD:13592920
G Trappc6a trafficking protein particle complex 6A JBrowse link 1 80,417,514 80,424,429 RGD:8554872
G Vps33a VPS33A core subunit of CORVET and HOPS complexes JBrowse link 12 38,459,816 38,482,903 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 7 11,838,639 11,873,992 RGD:13592920
G Dtnbp1 dystrobrevin binding protein 1 JBrowse link 17 20,090,136 20,182,332 RGD:8554872
G Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 JBrowse link 1 261,989,178 262,015,282 RGD:1625056
RGD:8554872
RGD:7240710
G Rab27a RAB27A, member RAS oncogene family JBrowse link 8 79,722,334 79,776,228 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 7 11,838,639 11,873,992 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 2 24,022,815 24,227,522 RGD:7240710
RGD:8554872
G Ap3d1 adaptor related protein complex 3 subunit delta 1 JBrowse link 7 11,838,639 11,873,992 RGD:13592920
Hermansky-Pudlak syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cp ceruloplasmin JBrowse link 2 104,744,249 104,803,034 RGD:8554872
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 JBrowse link 2 104,789,423 104,832,964 RGD:7240710
RGD:8554872
RGD:11041885
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 12 50,285,239 50,315,893 RGD:7240710
RGD:8554872
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 1 102,810,114 102,849,430 RGD:7240710
RGD:8554872
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 1 265,761,818 265,764,427 RGD:7240710
RGD:8554872
Hermansky-Pudlak syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dtnbp1 dystrobrevin binding protein 1 JBrowse link 17 20,090,136 20,182,332 RGD:7240710
RGD:8554872
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 80,414,766 80,417,385 RGD:7240710
RGD:8554872
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 3 114,869,478 114,880,218 RGD:7240710
RGD:8554872
Oculocutaneous Albinism Type I, Temperature-Sensitive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tyr tyrosinase JBrowse link 1 151,012,598 151,106,802 RGD:8554872
oculocutaneous albinism type IA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:8554872
G Tyr tyrosinase JBrowse link 1 151,012,598 151,106,802 RGD:7240710
RGD:8554872
RGD:11554173
RGD:8694340
RGD:8694337
RGD:8694335
RGD:8694334
oculocutaneous albinism type IB term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:8554872
G Tyr tyrosinase JBrowse link 1 151,012,598 151,106,802 RGD:7240710
RGD:8554872
oculocutaneous albinism type II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mc1r melanocortin 1 receptor JBrowse link 19 56,215,420 56,219,987 RGD:7240710
RGD:8554872
G Oca2 OCA2 melanosomal transmembrane protein JBrowse link 1 114,661,970 114,987,433 RGD:7240710
RGD:8554872
RGD:9491836
RGD:9491830
RGD:9491821
RGD:9491820
G Tyrp1 tyrosinase-related protein 1 JBrowse link 5 98,387,291 98,406,083 RGD:8554872
oculocutaneous albinism type III term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tyrp1 tyrosinase-related protein 1 JBrowse link 5 98,387,291 98,406,083 RGD:7240710
RGD:8554872
oculocutaneous albinism type IV term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brca2 BRCA2, DNA repair associated JBrowse link 12 503,660 544,754 RGD:8554872
G Col1a2 collagen type I alpha 2 chain JBrowse link 4 31,534,225 31,569,152 RGD:8554872
G Med12 mediator complex subunit 12 JBrowse link X 71,174,653 71,197,812 RGD:8554872
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:8554872
G Slc45a2 solute carrier family 45, member 2 JBrowse link 2 60,966,671 60,999,398 RGD:1599921
RGD:8554872
RGD:7240710
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:8554872
Oculocutaneous Albinism Type VI term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myef2 myelin expression factor 2 JBrowse link 3 117,353,490 117,389,582 RGD:8554872
G Slc24a5 solute carrier family 24 member 5 JBrowse link 3 117,335,212 117,354,480 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 15 1,269,869 2,346,246 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 3 117,353,490 117,389,582 RGD:8554872
G Slc24a5 solute carrier family 24 member 5 JBrowse link 3 117,335,212 117,354,480 RGD:8554872
RGD:11554173
Tietz syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mitf melanocyte inducing transcription factor JBrowse link 4 130,172,484 130,425,496 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    sensory system disease 4246
      skin disease 2253
        Genetic Skin Diseases 580
          Albinism 51
            oculocutaneous albinism 41
              Brown Oculocutaneous Albinism 1
              Congenital Deafness, with Total Albinism 0
              Hermansky-Pudlak syndrome + 26
              Oculocutaneous Albinism Type I, Temperature-Sensitive 1
              Oculocutaneous Albinism Type VI + 2
              Pigmentary Dilution 0
              Tietz syndrome 1
              oculocutaneous albinism type IA 2
              oculocutaneous albinism type IB 2
              oculocutaneous albinism type II 3
              oculocutaneous albinism type III 1
              oculocutaneous albinism type IV 6
              oculocutaneous albinism type V 0
              oculocutaneous albinism type VII 1
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        sensory system disease 4246
          eye and adnexa disease 1985
            eye disease 1985
              Hereditary Eye Diseases 503
                Albinism 51
                  oculocutaneous albinism 41
                    Brown Oculocutaneous Albinism 1
                    Congenital Deafness, with Total Albinism 0
                    Hermansky-Pudlak syndrome + 26
                    Oculocutaneous Albinism Type I, Temperature-Sensitive 1
                    Oculocutaneous Albinism Type VI + 2
                    Pigmentary Dilution 0
                    Tietz syndrome 1
                    oculocutaneous albinism type IA 2
                    oculocutaneous albinism type IB 2
                    oculocutaneous albinism type II 3
                    oculocutaneous albinism type III 1
                    oculocutaneous albinism type IV 6
                    oculocutaneous albinism type V 0
                    oculocutaneous albinism type VII 1
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.