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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 OMIM:615113
ClinVar Annotator: match by term: Microphthalmia, isolated 8
OMIM
ClinVar
PMID:23312594, PMID:25741868, PMID:26995144, PMID:28492532 NCBI chr 1:127,302,920...127,337,828
Ensembl chr 1:127,301,128...127,337,882
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    sensory system disease 5162
      eye disease 2593
        microphthalmia 98
          isolated microphthalmia 14
            isolated microphthalmia 8 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        sensory system disease 5162
          eye disease 2593
            Eye Abnormalities 363
              microphthalmia 98
                isolated microphthalmia 14
                  isolated microphthalmia 8 1
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.