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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 7
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Accession:DOID:9002999 term browser browse the term
Synonyms:exact_synonym: MCOPC7;   MCOPCB7
 primary_id: OMIM:614497
 alt_id: RDO:9000567
For additional species annotation, visit the Alliance of Genome Resources.


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Isolated Microphthalmia with Coloboma 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb6 ATP binding cassette subfamily B member 6 ISO ClinVar Annotator: match by OMIM:614497
ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 7
OMIM
ClinVar
PMID:19504436, PMID:22226084, PMID:24281366 NCBI chr 9:82,373,950...82,382,228
Ensembl chr 9:82,373,946...82,382,272
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    sensory system disease 5162
      eye disease 2593
        microphthalmia 98
          isolated microphthalmia 14
            Isolated Microphthalmia with Coloboma 7
              Isolated Microphthalmia with Coloboma 7 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        sensory system disease 5162
          eye disease 2593
            Eye Abnormalities 363
              microphthalmia 98
                isolated microphthalmia 14
                  Isolated Microphthalmia with Coloboma 7
                    Isolated Microphthalmia with Coloboma 7 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.