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ONTOLOGY REPORT - ANNOTATIONS


Term:syndromic microphthalmia 12
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Accession:DOID:0111800 term browser browse the term
Definition:A syndromic microphthalmia characterized by bilateral microphthalmia, pulmonary hypoplasia, and diaphragmatic hernia that has_material_basis_in compound heterozygous or heterozygous mutation in RARB on chromosome 3p24.2. (DO)
Synonyms:exact_synonym: MCOPS12;   Microphthalmia with or without Pulmonary Hypoplasia, Diaphragmatic Hernia, and/or Cardiac Defects
 primary_id: OMIM:615524
 xref: GARD:13235
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syndromic microphthalmia 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rarb retinoic acid receptor, beta JBrowse link 15 9,915,223 10,262,599 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16022
    sensory system disease 4976
      eye disease 2390
        microphthalmia 92
          syndromic microphthalmia 20
            syndromic microphthalmia 12 1
Path 2
Term Annotations click to browse term
  disease 16022
    disease of anatomical entity 15275
      nervous system disease 10770
        sensory system disease 4976
          eye disease 2390
            Eye Abnormalities 332
              microphthalmia 92
                syndromic microphthalmia 20
                  syndromic microphthalmia 12 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.