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ONTOLOGY REPORT - ANNOTATIONS


Term:isolated microphthalmia 3
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Accession:DOID:0060842 term browser browse the term
Definition:A microphthalmia characterized by clinical anophthalmia and/or microphthalmia that has_material_basis_in compound heterozygous mutation in the RAX gene on chromosome 18q21. (DO)
Synonyms:exact_synonym: MCOP3
 primary_id: MESH:C567025
 alt_id: OMIM:611038;   RDO:0015214
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isolated microphthalmia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rax retina and anterior neural fold homeobox JBrowse link 18 61,638,352 61,642,056 RGD:7240710
RGD:8554872

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Term Annotations click to browse term
  disease 14924
    Developmental Diseases 7770
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7092
        genetic disease 6457
          isolated microphthalmia 3 1
Path 2
Term Annotations click to browse term
  disease 14924
    disease of anatomical entity 14094
      nervous system disease 9141
        sensory system disease 4249
          eye and adnexa disease 1980
            eye disease 1980
              Eye Abnormalities 279
                microphthalmia 89
                  isolated microphthalmia 3 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.