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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: NSD2-RELATED CONDITION;   RAUST;   WOLF-HIRSCHHORN LIKE SYNDROME
 xref: MIM:619695;   MONDO:0859219;   ORDO:659642



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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: NSD2-related condition | ClinVar Annotator: match by term: Rauch-Steindl syndrome | ClinVar Annotator: match by term: Wolf-Hirschhorn like syndrome OMIM
ClinVar
PMID:11252005 PMID:25741868 PMID:28492532 PMID:29758562 PMID:29760529 More... NCBI chr14:76,833,179...76,911,304 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    Developmental Disease 14664
      RAUCH-STEINDL SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      nervous system disease 14359
        central nervous system disease 12634
          brain disease 11853
            disease of mental health 8450
              developmental disorder of mental health 5646
                specific developmental disorder 4609
                  intellectual disability 4381
                    RAUCH-STEINDL SYNDROME 1
paths to the root