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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 intellectual developmental disorder 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 intellectual developmental disorder 17;   autosomal dominant mental retardation 17
 primary_id: OMIM:615009
 xref: NCI:C150555


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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:9536098 PMID:17576681 PMID:23159249 PMID:25326635 PMID:25356970 More... NCBI chr 1:202,437,503...202,569,473
Ensembl chr 1:202,437,505...202,569,473 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21086
    syndrome 10782
      Schuurs-Hoeijmakers syndrome 1
Path 2
Term Annotations click to browse term
  disease 21086
    disease of anatomical entity 18146
      nervous system disease 13993
        central nervous system disease 12287
          brain disease 11534
            disease of mental health 8198
              developmental disorder of mental health 5448
                specific developmental disorder 4431
                  intellectual disability 4238
                    autosomal dominant intellectual developmental disorder 426
                      Schuurs-Hoeijmakers syndrome 1
paths to the root