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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 IAGP ClinVar Annotator: match by term: Rauch-Steindl syndrome ClinVar
OMIM		 PMID:25741868 PMID:25741916 PMID:28492532 PMID:29760529 PMID:29892088 More... NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    Developmental Disease 36464
      RAUCH-STEINDL SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        central nervous system disease 23468
          brain disease 21902
            disease of mental health 17210
              developmental disorder of mental health 12014
                specific developmental disorder 7407
                  intellectual disability 7166
                    RAUCH-STEINDL SYNDROME 1
paths to the root