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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:RAUCH-STEINDL SYNDROME
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Accession:DOID:9004360 term browser browse the term
Definition:This disease is characterized by poor pre- and postnatal growth, characteristic dysmorphic facial features, and variable developmental delay with delayed motor and speech acquisition and impaired intellectual function. The phenotype represents a mild form of Wolf-Hirschhorn syndrome.
Synonyms:exact_synonym: RAUST
 primary_id: OMIM:619695

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RAUCH-STEINDL SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nsd2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: Rauch-Steindl syndrome OMIM
ClinVar		 PMID:25741868 PMID:25741916 PMID:28492532 PMID:29760529 PMID:29892088 More... NCBI chrNW_004936477:21,460,442...21,531,563
Ensembl chrNW_004936477:21,460,478...21,534,909 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      RAUCH-STEINDL SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      nervous system disease 12341
        central nervous system disease 11056
          brain disease 10378
            disease of mental health 7458
              developmental disorder of mental health 5072
                specific developmental disorder 4193
                  intellectual disability 4008
                    RAUCH-STEINDL SYNDROME 1
paths to the root