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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 14759
    syndrome 4210
      Schuurs-Hoeijmakers syndrome 1
Path 2
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  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            disease of mental health 4314
              developmental disorder of mental health 2584
                specific developmental disorder 1319
                  intellectual disability 1146
                    non-syndromic intellectual disability 159
                      autosomal dominant non-syndromic intellectual disability 84
                        Schuurs-Hoeijmakers syndrome 1
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