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ONTOLOGY REPORT - ANNOTATIONS


Term:isolated microphthalmia 8
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Accession:DOID:0060841 term browser browse the term
Definition:A 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
 alt_id: RDO:9000566
For additional species annotation, visit the Alliance of Genome Resources.


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isolated microphthalmia 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh1a3 aldehyde dehydrogenase 1 family, member A3 JBrowse link 1 127,302,920 127,337,828 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15619
    sensory system disease 4674
      eye and adnexa disease 2242
        eye disease 2242
          microphthalmia 91
            isolated microphthalmia 8 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        sensory system disease 4674
          eye and adnexa disease 2242
            eye disease 2242
              Eye Abnormalities 279
                microphthalmia 91
                  isolated microphthalmia 8 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.