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ONTOLOGY REPORT - ANNOTATIONS


Term:IVIC syndrome
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Accession:DOID:0111381 term browser browse the term
Definition:A syndrome characterized by radial ray defect of variable severity, mixed congenital hearing loss, mild thrombocytopenia, and external ophthalmoplegia that has_material_basis_in heterozygous mutation in SALL4 on chromosome 20q13.2. (DO)
Synonyms:exact_synonym: Instituto Venezolano de Investigaciones Cientificas syndrome;   OORS;   Oculootoradial Syndrome;   Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia;   oculo-oto-radial syndrome
 broad_synonym: SALL4-related spectrum disorder;   SALL4-related spectrum disorders
 primary_id: MESH:C535544
 alt_id: DOID:9008632;   OMIM:147750
 xref: GARD:269;   ORDO:2307
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IVIC syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sall4 spalt-like transcription factor 4 JBrowse link 3 165,520,155 165,538,176 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15503
    syndrome 5771
      IVIC syndrome 1
Path 2
Term Annotations click to browse term
  disease 15503
    disease of anatomical entity 14857
      nervous system disease 10273
        sensory system disease 4666
          Otorhinolaryngologic Diseases 1083
            auditory system disease 691
              Hearing Disorders 574
                Hearing Loss 570
                  Bilateral Hearing Loss 4
                    IVIC 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.