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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 intellectual developmental disorder 17;   autosomal dominant mental retardation 17
 primary_id: OMIM:615009
 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: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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      Schuurs-Hoeijmakers syndrome 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          brain disease 9782
            disease of mental health 7070
              developmental disorder of mental health 4405
                specific developmental disorder 3664
                  intellectual disability 3475
                    non-syndromic intellectual disability 424
                      autosomal dominant non-syndromic intellectual disability 321
                        Schuurs-Hoeijmakers syndrome 1
paths to the root