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ONTOLOGY REPORT - ANNOTATIONS


Term:isolated microphthalmia 2
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Accession:DOID:0060839 term browser browse the term
Definition:A microphthalmia characterized by autosomal recessive inheritance of bilateral profound microphthalmia without associated anomalies and with normal intelligence that has_material_basis_in homozygous mutation in the CHX10 gene on chromosome 14q24. (DO)
Synonyms:exact_synonym: MCOP2;   isolated clinical anophthalmia
 primary_id: MESH:C566446
 alt_id: OMIM:610093;   RDO:0014797
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isolated microphthalmia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vsx2 visual system homeobox 2 JBrowse link 6 108,285,031 108,308,588 RGD:8554872
RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 15599
    sensory system disease 4663
      eye and adnexa disease 2238
        eye disease 2238
          microphthalmia 91
            isolated microphthalmia 2 1
Path 2
Term Annotations click to browse term
  disease 15599
    disease of anatomical entity 0
      nervous system disease 10203
        sensory system disease 4663
          eye and adnexa disease 2238
            eye disease 2238
              Eye Abnormalities 278
                microphthalmia 91
                  isolated microphthalmia 2 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.