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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 8
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Accession:DOID:0060841 term browser browse the term
Definition:An isolated microphthalmia characterized by bilateral severe microphthalmia autosomal recessive inheritance of that has_material_basis_in homozygous mutation in the ALDH1A3 gene on chromosome 15q26. (DO)
Synonyms:exact_synonym: MCOP8
 primary_id: OMIM:615113
For additional species annotation, visit the Alliance of Genome Resources.



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isolated microphthalmia 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh1a3 aldehyde dehydrogenase 1 family, member A3 ISO ClinVar Annotator: match by term: Isolated microphthalmia 8 OMIM
ClinVar
PMID:23312594 PMID:23591992 PMID:24777706 PMID:25741868 PMID:28492532 NCBI chr 1:119,982,272...120,017,416
Ensembl chr 1:119,982,277...120,017,436
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    sensory system disease 6410
      eye disease 2936
        microphthalmia 116
          isolated microphthalmia 17
            isolated microphthalmia 8 1
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      nervous system disease 13193
        sensory system disease 6410
          eye disease 2936
            Eye Abnormalities 461
              microphthalmia 116
                isolated microphthalmia 17
                  isolated microphthalmia 8 1
paths to the root