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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
ClinVar Annotator: match by term: Microphthalmia, isolated 7
OMIM
ClinVar
PMID:19864492 PMID:28492532 NCBI chr 4:155,831,572...155,835,953
Ensembl chr 4:155,830,909...155,835,937
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    sensory system disease 5680
      eye disease 2766
        microphthalmia 102
          isolated microphthalmia 16
            isolated microphthalmia 7 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        sensory system disease 5680
          eye disease 2766
            Eye Abnormalities 401
              microphthalmia 102
                isolated microphthalmia 16
                  isolated microphthalmia 7 1
paths to the root