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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 13
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Accession:DOID:9009206 term browser browse the term
Definition:An autosomal recessive disorder characterized by variable ocular anomalies, even between eyes within the same patient. Caused by homozygous mutation in an enhancer for the IHH gene located within the NHEJ1 gene on chromosome 2q35.
Synonyms:exact_synonym: MCOPCB13
 xref: MIM:620968


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Microphthalmia/Coloboma 13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nhej1 nonhomologous end-joining factor 1 ISO ClinVar Annotator: match by term: MICROPHTHALMIA/COLOBOMA 13 OMIM
ClinVar		 PMID:25741868 PMID:37580330 NCBI chr 9:83,974,995...84,071,161
Ensembl chr 9:76,526,324...76,622,444 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    sensory system disease 7375
      eye disease 3722
        Eye Abnormalities 814
          coloboma 133
            Isolated Microphthalmia with Coloboma 11
              Microphthalmia/Coloboma 13 1
Path 2
Term Annotations click to browse term
  disease 19141
    disease of anatomical entity 18453
      nervous system disease 14360
        Neurologic Manifestations 10450
          sensory system disease 7375
            eye disease 3722
              Eye Abnormalities 814
                microphthalmia 229
                  isolated microphthalmia 105
                    Isolated Microphthalmia with Coloboma 11
                      Microphthalmia/Coloboma 13 1
paths to the root