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 ; RDO:0002802
For additional species annotation, visit the
Alliance of Genome Resources .
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
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
G
Tyr
tyrosinase
ISO
DNA:mutations:cds:p.R402Q,p.S192Y(human) ClinVar Annotator: match by term: Ocular albinism
ClinVar OMIM
PMID:1899321 PMID:17952075 PMID:17999355 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
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
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
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
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
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
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
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
G
Tyr
tyrosinase
ISO
ClinVar Annotator: match by term: Albinism, ocular, with sensorineural deafness
ClinVar
PMID:1429711 PMID:1642278 PMID:1903591 PMID:5516239 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: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
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