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ONTOLOGY REPORT - ANNOTATIONS


Term:corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
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Accession:DOID:0060816 term browser browse the term
Definition:A syndromic X-linked intellectual disability characterized by agenesis of the corpus callosum, intellectual disability, ocular coloboma, micrognathia, sensorineural hearing loss, skeletal anomalies, and short stature that has_material_basis_in mutation in the IGBP1 gene on chromosome Xq13.1. (DO)
Synonyms:exact_synonym: Graham-Cox syndrome;   MENTAL RETARDATION, X-LINKED, SYNDROMIC 28;   MRXS28;   corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia
 primary_id: MESH:C564509;   RDO:0013451
 alt_id: OMIM:300472
 xref: ORDO:52055
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corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Igbp1 immunoglobulin binding protein 1 JBrowse link X 70,322,764 70,345,005 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15619
    Pathological Conditions, Signs and Symptoms 8030
      Anatomical Pathological Conditions 1329
        Agenesis of Corpus Callosum 69
          corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        central nervous system disease 8092
          brain disease 7561
            disease of mental health 5514
              developmental disorder of mental health 2709
                specific developmental disorder 1880
                  intellectual disability 1703
                    syndromic intellectual disability 672
                      Mental Retardation, X-Linked 656
                        syndromic X-linked intellectual disability 582
                          corpus callosum agenesis-intellectual disability-coloboma-micrognathia 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.