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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:Microphthalmia/Coloboma 9
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Accession:DOID:9001920 term browser browse the term
Synonyms:exact_synonym: MCOPC9;   MCOPCB9;   isolated microphthalmia with coloboma 9
 narrow_synonym: MCOPS15;   microphthalmia, syndromic 15
 primary_id: OMIM:615145


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Microphthalmia/Coloboma 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TENM3 teneurin transmembrane protein 3 ISO ClinVar Annotator: match by term: MICROPHTHALMIA, SYNDROMIC 15 | ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 9 OMIM
ClinVar		 PMID:22766609 PMID:25741868 PMID:27103084 PMID:28492532 PMID:29753094 More... NCBI chr15:41,818,190...44,401,747
Ensembl chr15:43,540,375...44,399,711 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    sensory system disease 6507
      eye disease 3325
        Eye Abnormalities 760
          coloboma 118
            Isolated Microphthalmia with Coloboma 10
              Microphthalmia/Coloboma 9 1
Path 2
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      nervous system disease 12960
        Neurologic Manifestations 9418
          sensory system disease 6507
            eye disease 3325
              Eye Abnormalities 760
                microphthalmia 206
                  isolated microphthalmia 103
                    Isolated Microphthalmia with Coloboma 10
                      Microphthalmia/Coloboma 9 1
paths to the root