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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:optic disc anomalies with retinal and/or macular dystrophy
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Accession:DOID:0080635 term browser browse the term
Definition:A microphthalmia that has_material_basis_in homozygous mutation in the SIX6 gene on chromosome 14q23. (DO)
Synonyms:exact_synonym: ODRMD
 primary_id: OMIM:212550
For additional species annotation, visit the Alliance of Genome Resources.


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optic disc anomalies with retinal and/or macular dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Six6 SIX homeobox 6 ISO ClinVar Annotator: match by term: OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY OMIM
ClinVar
PMID:15266624 PMID:23167593 PMID:24702266 PMID:25741868 PMID:28492532 NCBI chr 6:95,816,749...95,821,729
Ensembl chr 6:95,816,749...95,821,729
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    sensory system disease 5168
      eye disease 2582
        microphthalmia 94
          optic disc anomalies with retinal and/or macular dystrophy 1
Path 2
Term Annotations click to browse term
  disease 16092
    Developmental Diseases 9588
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8436
        genetic disease 7958
          monogenic disease 5739
            autosomal genetic disease 4756
              autosomal recessive disease 2617
                optic disc anomalies with retinal and/or macular dystrophy 1
paths to the root