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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
For additional species annotation, visit the Alliance of Genome Resources.



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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:29760529 PMID:29892088 PMID:33276791 PMID:33941880 NCBI chr14:76,833,194...76,911,304
Ensembl chr14:76,835,637...76,913,641
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    Developmental Disease 12858
      RAUCH-STEINDL SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      nervous system disease 13146
        central nervous system disease 11274
          brain disease 10560
            disease of mental health 7489
              developmental disorder of mental health 4860
                specific developmental disorder 4124
                  intellectual disability 3939
                    RAUCH-STEINDL SYNDROME 1
paths to the root