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

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Path 1
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  disease 14875
    syndrome 4220
      oculoauricular syndrome 1
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        sensory system disease 4246
          eye and adnexa disease 1985
            eye disease 1985
              Eye Abnormalities 283
                oculoauricular syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.