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
Accession: DOID:0050633
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 .
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
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
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 PMID:19718767 PMID:21217109 PMID:23591405 PMID:23989059 PMID:24474277 PMID:25079116 PMID:25097241 PMID:25703721 PMID:25741868 PMID:26894784 PMID:27522502 PMID:27573156 PMID:28041643 PMID:28224992 PMID:28492532 PMID:28559085 PMID:28771251 PMID:29193891 PMID:29343940 PMID:29431110 PMID:30324420 PMID:30718709 More...
NCBI chr 8:60,365,581...60,373,383
Ensembl chr 8:60,366,124...60,373,163
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
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 PMID:19060277 PMID:19626598 PMID:19865097 PMID:20861488 PMID:22294196 PMID:24033266 PMID:24721949 PMID:25741868 PMID:25919014 PMID:28266639 PMID:28451379 PMID:28492532 PMID:28629449 PMID:29345414 PMID:33223529 PMID:34008892 PMID:7704033 More...
RGD:8694339
NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207
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
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
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 PMID:22183355 PMID:22194652 PMID:24124559 PMID:25307992 PMID:25741868 PMID:26747767 PMID:26992781 PMID:28002560 PMID:28341476 PMID:28492532 PMID:30718709 PMID:30825406 PMID:17525176 More...
RGD:13782379
NCBI chr X:14,868,096...14,896,413
Ensembl chr X:14,868,024...14,896,413
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
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 PMID:8634705 PMID:9529334 PMID:9887374 PMID:11520764 PMID:19610097 PMID:25741868 PMID:28492532 More...
NCBI chr X:22,002,914...22,027,720
Ensembl chr X:22,002,914...22,027,715
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
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
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 PMID:9242509 PMID:11284711 PMID:13680365 PMID:15146472 PMID:18463683 PMID:18821858 PMID:19060277 PMID:19208379 PMID:19320745 PMID:19865097 PMID:20861488 PMID:21906913 PMID:22734612 PMID:24033266 PMID:24123366 PMID:25216246 PMID:25333069 PMID:25741868 PMID:26167114 PMID:26818737 PMID:27734839 PMID:27775880 PMID:27887888 PMID:28266639 PMID:28492532 PMID:28667292 PMID:30311386 PMID:31719542 PMID:32411182 More...
NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207
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