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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:ocular albinism
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Accession:DOID:0050633 term browser browse the term
Definition:An eye disease that is characterized by reduced pigmentation of the iris and the resulting impairment of visual acuity without significantly affecting the color of skin or hair and has_material_basis in mutation in the GPR143 gene that encodes segments of the melanosomes that stores melanin. (DO)
Synonyms:primary_id: MESH:D016117
 alt_id: OMIM:606933;   RDO:0002802
For additional species annotation, visit the Alliance of Genome Resources.


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ocular albinism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpr143 G protein-coupled receptor 143 ISS OMIM:300500 MouseDO NCBI chr  X:23,668,363...23,693,162
Ensembl chr  X:23,668,363...23,693,162
JBrowse link
G Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 ISO ClinVar Annotator: match by term: Ocular albinism ClinVar PMID:9497254, PMID:9705234, PMID:15952982, PMID:17365864, PMID:20514622, PMID:25741868, PMID:26806224, PMID:28081892, PMID:28492532, PMID:30311386, PMID:31064749 NCBI chr 1:261,989,178...262,015,282
Ensembl chr 1:261,989,178...262,015,153
JBrowse link
G Slc24a5 solute carrier family 24 member 5 ISS OMIM:300500 MouseDO NCBI chr 3:117,335,212...117,354,480
Ensembl chr 3:117,335,212...117,354,480
JBrowse link
G Tyr tyrosinase ISO DNA:mutations:cds:p.R402Q,p.S192Y(human)
ClinVar Annotator: match by term: Ocular albinism
ClinVar
OMIM
PMID:666627, PMID:1429711, PMID:1820207, PMID:1899321, PMID:7704033, PMID:9158138, PMID:10766867, PMID:17952075, PMID:17999355, PMID:18326704, PMID:18488027, PMID:18488028, PMID:18925668, PMID:19208379, PMID:19533789, PMID:21541274, PMID:23504663, PMID:25216246, PMID:25741868, PMID:30311386, PMID:7704033 RGD:8694339 NCBI chr 1:151,012,598...151,106,802
Ensembl chr 1:151,012,598...151,106,802
JBrowse link
G Tyrp1 tyrosinase-related protein 1 ISO ClinVar Annotator: match by term: Ocular albinism ClinVar PMID:25741868 NCBI chr 5:98,387,291...98,406,083
Ensembl chr 5:98,387,291...98,406,083
JBrowse link
Aland Island eye disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cabp4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Ocular albinism, type II ClinVar PMID:30718709 NCBI chr 1:219,383,452...219,388,009
Ensembl chr 1:219,383,452...219,388,009
JBrowse link
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Ocular albinism, type II
DNA:deletion:exon:
OMIM
ClinVar
PMID:14230113, PMID:17525176, PMID:25741868, PMID:30311386, PMID:30718709, PMID:17525176 RGD:13782379 NCBI chr  X:15,712,709...15,741,135
Ensembl chr  X:15,712,713...15,741,103
JBrowse link
G Whrn whirlin ISO ClinVar Annotator: match by term: Ocular albinism, type II ClinVar PMID:28492532, PMID:30718709 NCBI chr 5:79,235,541...79,317,206
Ensembl chr 5:79,234,950...79,317,206
JBrowse link
Ocular Albinism Type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpr143 G protein-coupled receptor 143 ISO ClinVar Annotator: match by OMIM:300500
ClinVar Annotator: match by term: Ocular albinism, type I
OMIM
ClinVar
PMID:1427786, PMID:1652548, PMID:5125647, PMID:7647783, PMID:8400292, PMID:8634705, PMID:9529334, PMID:9887374, PMID:11520764, PMID:19610097, PMID:25741868 NCBI chr  X:23,668,363...23,693,162
Ensembl chr  X:23,668,363...23,693,162
JBrowse link
ocular albinism with sensorineural deafness term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mitf melanocyte inducing transcription factor ISS MouseDO NCBI chr 4:130,172,484...130,425,496
Ensembl chr 4:130,172,727...130,425,532
JBrowse link
G Pax3 paired box 3 ISO ClinVar Annotator: match by term: Albinism, ocular, with sensorineural deafness ClinVar PMID:25741868 NCBI chr 9:84,004,004...84,101,226
Ensembl chr 9:84,005,183...84,101,172
JBrowse link
G Tyr tyrosinase ISO ClinVar Annotator: match by term: Albinism, ocular, with sensorineural deafness ClinVar PMID:1429711, PMID:1642278, PMID:1903591, PMID:1970634, PMID:5516239, PMID:9242509, PMID:11284711, PMID:12753405, PMID:13680365, PMID:15146472, PMID:18463683, PMID:18590551, PMID:18821858, PMID:19060277, PMID:19208379, PMID:19320745, PMID:19865097, PMID:20861488, PMID:21906913, PMID:22734612, PMID:23504663, PMID:24033266, PMID:24123366, PMID:25216246, PMID:25741868, PMID:26167114, PMID:26818737, PMID:27775880, PMID:27887888, PMID:30311386 NCBI chr 1:151,012,598...151,106,802
Ensembl chr 1:151,012,598...151,106,802
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    sensory system disease 5213
      eye disease 2652
        ocular albinism 10
          Aland Island eye disease 3
          Minimal Pigment Type Albinism 0
          Ocular Albinism Type 1 1
          ocular albinism with sensorineural deafness 3
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        sensory system disease 5213
          skin disease 2758
            pigmentation disease 244
              Hypopigmentation 103
                Albinism 48
                  ocular albinism 10
                    Aland Island eye disease 3
                    Minimal Pigment Type Albinism 0
                    Ocular Albinism Type 1 1
                    ocular albinism with sensorineural deafness 3
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.