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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:isolated microphthalmia 7
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Accession:DOID:0060838 term browser browse the term
Definition:An isolated microphthalmia characterized by unilateral microphthalmia that has_material_basis_in caused by mutation in the GDF3 gene on chromosome 12p13. (DO)
Synonyms:exact_synonym: MCOP7
 primary_id: OMIM:613704
 xref: ICD10CM:Q11.0
For additional species annotation, visit the Alliance of Genome Resources.


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isolated microphthalmia 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf3 growth differentiation factor 3 ISO ClinVar Annotator: match by OMIM:613704 OMIM
ClinVar
PMID:19864492 NCBI chr 4:155,417,667...155,422,014
Ensembl chr 4:155,417,004...155,421,998
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    sensory system disease 5176
      eye disease 2591
        microphthalmia 95
          isolated microphthalmia 14
            isolated microphthalmia 7 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        sensory system disease 5176
          eye disease 2591
            Eye Abnormalities 353
              microphthalmia 95
                isolated microphthalmia 14
                  isolated microphthalmia 7 1
paths to the root