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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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
 xref: NCI:C150555
For additional species annotation, visit the Alliance of Genome Resources.


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Schuurs-Hoeijmakers syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pacs1 phosphofurin acidic cluster sorting protein 1 ISO ClinVar Annotator: match by term: Schuurs-hoeijmakers syndrome OMIM
ClinVar
PMID:23159249 PMID:25326635 PMID:25356970 PMID:25522177 PMID:25741868 PMID:25741881 PMID:26795593 PMID:26842493 PMID:26944241 PMID:27681385 PMID:28111752 PMID:28135719 PMID:28471432 PMID:28492532 PMID:28554332 PMID:28628100 PMID:29550517 PMID:30113927 PMID:30588754 PMID:30690871 PMID:32963807 NCBI chr 1:220,515,117...220,645,611
Ensembl chr 1:220,516,316...220,644,636
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    syndrome 7036
      Schuurs-Hoeijmakers syndrome 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        central nervous system disease 9066
          brain disease 8372
            disease of mental health 5980
              developmental disorder of mental health 3114
                specific developmental disorder 2316
                  intellectual disability 2163
                    non-syndromic intellectual disability 268
                      autosomal dominant non-syndromic intellectual disability 174
                        Schuurs-Hoeijmakers syndrome 1
paths to the root