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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:Hereditary Macular Coloboma
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Accession:DOID:9004910 term browser browse the term
Synonyms:exact_synonym: agenesis of macula;   coloboma of macula;   macular coloboma
 primary_id: MESH:C535968
For additional species annotation, visit the Alliance of Genome Resources.


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Hereditary Macular Coloboma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22842230 NCBI chr 4:149,467,569...149,485,210
Ensembl chr 4:149,467,572...149,485,202
JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Macular coloboma ClinVar PMID:10508989, PMID:19466712, PMID:19508969, PMID:19540516, PMID:19574260, PMID:19778711, PMID:20232449, PMID:20607301, PMID:21068128, PMID:21866095, PMID:23559409, PMID:25729630, PMID:25741868, PMID:25920555, PMID:26035863, PMID:26092869, PMID:27491411, PMID:28492532, PMID:30311386 NCBI chr 4:12,039,355...12,090,020
Ensembl chr 4:12,039,355...12,090,020
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13400
    sensory system disease 5035
      eye disease 2638
        Eye Abnormalities 376
          coloboma 94
            Hereditary Macular Coloboma 2
Path 2
Term Annotations click to browse term
  disease 13400
    disease of anatomical entity 12876
      nervous system disease 10435
        sensory system disease 5035
          eye disease 2638
            Eye Abnormalities 376
              coloboma 94
                Hereditary Macular Coloboma 2
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.