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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:Isolated Microphthalmia with Coloboma 10
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Accession:DOID:9000743 term browser browse the term
Synonyms:exact_synonym: MCOPCB10;   isolated microphthalmia and/or coloboma 10
 primary_id: OMIM:616428
 alt_id: OMIA:002151;   RDO:9001677
For additional species annotation, visit the Alliance of Genome Resources.


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Isolated Microphthalmia with Coloboma 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rbp4 retinol binding protein 4 ISO ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 10 OMIM
ClinVar
PMID:9888420, PMID:23189188, PMID:25910211 NCBI chr 1:256,806,476...256,813,678
Ensembl chr 1:256,806,472...256,813,711
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    sensory system disease 5162
      eye disease 2592
        microphthalmia 98
          isolated microphthalmia 14
            Isolated Microphthalmia with Coloboma 7
              Isolated Microphthalmia with Coloboma 10 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        sensory system disease 5162
          eye disease 2592
            Eye Abnormalities 363
              microphthalmia 98
                isolated microphthalmia 14
                  Isolated Microphthalmia with Coloboma 7
                    Isolated Microphthalmia with Coloboma 10 1
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.