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ONTOLOGY REPORT - ANNOTATIONS


Term:Schuurs-Hoeijmakers syndrome
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Accession:DOID:0070047 term browser browse the term
Definition:An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of PACS1 on chromosome 11q13.1-q13.2. (DO)
Synonyms:exact_synonym: MRD17;   SHMS;   autosomal dominant mental retardation 17
 primary_id: OMIM:615009;   RDO:9000811
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Schuurs-Hoeijmakers syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pacs1 phosphofurin acidic cluster sorting protein 1 JBrowse link 1 220,515,117 220,645,611 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15553
    syndrome 5224
      Schuurs-Hoeijmakers syndrome 1
Path 2
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  disease 15553
    disease of anatomical entity 14837
      nervous system disease 10167
        central nervous system disease 8267
          brain disease 7613
            disease of mental health 5552
              developmental disorder of mental health 2729
                specific developmental disorder 1896
                  intellectual disability 1721
                    non-syndromic intellectual disability 185
                      autosomal dominant non-syndromic intellectual disability 105
                        Schuurs-Hoeijmakers 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.