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ONTOLOGY REPORT - ANNOTATIONS


Term:Microphthalmia, Syndromic 5
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Accession:DOID:9005986 term browser browse the term
Synonyms:exact_synonym: ANOPHTHALMIA-MICROPHTHALMIA SYNDROME;   MCOPS5;   MCOPS5 RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION,;   OTX2-RELATED SYNDROMIC MICROPHTHALMIA
 narrow_synonym: RETINAL DYSTROPHY, EARLY-ONSET, AND PITUITARY DYSFUNCTION
 primary_id: MESH:C566441;   RDO:0014793
 alt_id: OMIM:610125
For additional species annotation, visit the Alliance of Genome Resources.


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Microphthalmia, Syndromic 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Otx2 orthodenticle homeobox 2 JBrowse link 15 25,500,037 25,511,619 RGD:8554872
RGD:7240710
G Wnt7b Wnt family member 7B JBrowse link 7 126,423,418 126,465,724 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15489
    sensory system disease 4593
      eye and adnexa disease 2149
        eye disease 2149
          microphthalmia 90
            Microphthalmia, Syndromic 5 2
Path 2
Term Annotations click to browse term
  disease 15489
    disease of anatomical entity 14790
      nervous system disease 10147
        sensory system disease 4593
          eye and adnexa disease 2149
            eye disease 2149
              Eye Abnormalities 281
                microphthalmia 90
                  Microphthalmia, Syndromic 5 2
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.