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

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Path 1
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  disease 14875
    syndrome 4220
      Schuurs-Hoeijmakers syndrome 1
Path 2
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  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          brain disease 6418
            disease of mental health 4325
              developmental disorder of mental health 2595
                specific developmental disorder 1330
                  intellectual disability 1158
                    non-syndromic intellectual disability 163
                      autosomal dominant non-syndromic intellectual disability 85
                        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.