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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 6:70,271,296...70,307,403
Ensembl chr 6:70,272,030...70,310,603
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 4:42,878,249...42,931,106
Ensembl chr 4:42,878,254...42,931,121
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12622
    sensory system disease 4778
      eye disease 2498
        Eye Abnormalities 352
          coloboma 92
            Hereditary Macular Coloboma 2
Path 2
Term Annotations click to browse term
  disease 12622
    disease of anatomical entity 12155
      nervous system disease 9921
        sensory system disease 4778
          eye disease 2498
            Eye Abnormalities 352
              coloboma 92
                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.