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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
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
ocular albinism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap3d1 adaptor related protein complex 3 subunit delta 1 ISO ClinVar Annotator: match by term: Ocular albinism ClinVar PMID:25741868 NCBI chr 7:8,970,249...9,005,651
Ensembl chr 7:8,970,291...9,005,643 		JBrowse link
G Gpr143 G protein-coupled receptor 143 ISS OMIM:300500 MouseDO NCBI chr  X:22,002,914...22,027,720
Ensembl chr  X:22,002,914...22,027,715 		JBrowse link
G Nr2e3 nuclear receptor subfamily 2, group E, member 3 ISO ClinVar Annotator: match by term: Ocular albinism ClinVar PMID:10655056 PMID:15459973 PMID:16199547 PMID:18294254 PMID:19273793 More... NCBI chr 8:60,365,581...60,373,383
Ensembl chr 8:60,366,124...60,373,163 		JBrowse link
G Slc24a5 solute carrier family 24 member 5 ISS OMIM:300500 MouseDO NCBI chr 3:112,319,305...112,339,231
Ensembl chr 3:112,319,308...112,339,231 		JBrowse link
G Tyr tyrosinase ISO DNA:mutations:cds:p.R402Q,p.S192Y(human)
ClinVar Annotator: match by term: Ocular albinism		 ClinVar
OMIM
RGD		 PMID:9163730 PMID:13680365 PMID:15381243 PMID:18326704 PMID:18463683 More... RGD:8694339 NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207 		JBrowse link
G Tyrp1 tyrosinase-related protein 1 ISO ClinVar Annotator: match by term: Ocular albinism ClinVar PMID:25741868 NCBI chr 5:95,280,982...95,299,516
Ensembl chr 5:95,280,982...95,299,516 		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 1:201,428,671...201,442,950
Ensembl chr 1:201,428,672...201,433,172 		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
RGD		 PMID:9662399 PMID:11281458 PMID:14230113 PMID:16199547 PMID:17525176 More... RGD:13782379 NCBI chr  X:14,868,096...14,896,413
Ensembl chr  X:14,868,024...14,896,413 		JBrowse link
G Whrn whirlin ISO ClinVar Annotator: match by term: Ocular albinism, type II ClinVar PMID:28492532 PMID:30718709 NCBI chr 5:76,828,308...76,911,945
Ensembl chr 5:76,828,301...76,912,223 		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 term: Ocular albinism, type I OMIM
ClinVar		 PMID:1427786 PMID:1652548 PMID:5125647 PMID:7647783 PMID:8400292 More... NCBI chr  X:22,002,914...22,027,720
Ensembl chr  X:22,002,914...22,027,715 		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 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145 		JBrowse link
G Pax3 paired box 3 ISO ClinVar Annotator: match by term: Albinism, ocular, with sensorineural deafness ClinVar PMID:25741868 NCBI chr 9:79,567,455...79,664,042
Ensembl chr 9:79,568,634...79,664,042 		JBrowse link
G Tyr tyrosinase ISO ClinVar Annotator: match by term: Albinism, ocular, with sensorineural deafness ClinVar PMID:1429711 PMID:1642278 PMID:1903591 PMID:5516239 PMID:7704033 More... NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18256
    sensory system disease 6575
      eye disease 2996
        ocular albinism 11
          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 18256
    Pathological Conditions, Signs and Symptoms 12646
      Signs and Symptoms 10117
        Neurologic Manifestations 9338
          sensory system disease 6575
            skin disease 3880
              pigmentation disease 475
                Hypopigmentation 153
                  Albinism 96
                    ocular albinism 11
                      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