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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 Type 1
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Accession:DOID:9005467 term browser browse the term
Synonyms:exact_synonym: Albinism, Ocular, Type I;   Nettleship-Falls type ocular albinism;   OA1
 primary_id: MESH:C537863;   RDO:0003777
 alt_id: OMIM:300500
 xref: NCI:C118785
For additional species annotation, visit the Alliance of Genome Resources.


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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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    sensory system disease 5245
      eye disease 2673
        ocular albinism 9
          Ocular Albinism Type 1 1
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        sensory system disease 5245
          skin disease 2715
            pigmentation disease 217
              Hypopigmentation 105
                Albinism 47
                  ocular albinism 9
                    Ocular Albinism Type 1 1
paths to the root