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ONTOLOGY REPORT - ANNOTATIONS


Term:Paganini-Miozzo syndrome
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Accession:DOID:0111843 term browser browse the term
Definition:A syndromic X-linked intellectual disability characterized by global developmental delay, impaired intellectual development, high myopia, and mild dysmorphic facial features that has_material_basis_in hemizygous mutation in HS6ST2 on chromosome Xq26.2. (DO)
Synonyms:exact_synonym: MENTAL RETARDATION, X-LINKED, SYNDROMIC, PAGANINI-MIOZZO TYPE;   MRXSPM
 primary_id: OMIM:301025
For additional species annotation, visit the Alliance of Genome Resources.


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Paganini-Miozzo syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hs6st2 heparan sulfate 6-O-sulfotransferase 2 JBrowse link X 138,675,326 138,972,774 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15992
    syndrome 6097
      Paganini-Miozzo syndrome 1
Path 2
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  disease 15992
    disease of anatomical entity 15263
      nervous system disease 10756
        central nervous system disease 8844
          brain disease 8133
            disease of mental health 5763
              developmental disorder of mental health 2915
                specific developmental disorder 2082
                  intellectual disability 1923
                    syndromic intellectual disability 675
                      Mental Retardation, X-Linked 656
                        syndromic X-linked intellectual disability 582
                          Paganini-Miozzo syndrome 1
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