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ONTOLOGY REPORT - ANNOTATIONS


Term:oculoauricular syndrome
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Accession:DOID:0060482 term browser browse the term
Definition:A syndrome characterized by microcornea, microphthalmia, anterior-segment dysgenesis, cataract, coloboma of various parts of the eye, abnormalities of the retinal pigment epithelium, and rod-cone dystrophy and a particular cleft ear lobule. (DO)
Synonyms:exact_synonym: MICROPHTHALMIA, MICROCORNEA, ANTERIOR SEGMENT DYSGENESIS, CATARACT, OCULAR COLOBOMA, RETINAL PIGMENT EPITHELIUM ABNORMALITIES, ROD-CONE DYSTROPHY, AND ANOMALIES OF THE EXTERNAL EAR;   OCACS;   SCHORDERET-MUNIER-FRANCESCHETTI SYNDROME
 primary_id: MESH:C567416;   RDO:0015491
 alt_id: OMIM:612109
 xref: ORDO:157962
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oculoauricular syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hmx1 H6 family homeobox 1 JBrowse link 14 80,540,558 80,544,607 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15602
    syndrome 5231
      oculoauricular syndrome 1
Path 2
Term Annotations click to browse term
  disease 15602
    disease of anatomical entity 14933
      nervous system disease 10260
        sensory system disease 4697
          eye and adnexa disease 2268
            eye disease 2268
              Eye Abnormalities 282
                oculoauricular syndrome 1
paths to the root

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