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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:Stuve-Wiedemann Syndrome
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Accession:DOID:9008909 term browser browse the term
Synonyms:exact_synonym: SJS2;   STWS;   SWS;   Schwartz Jampel syndrome neonatal;   Schwartz Jampel type 2 syndrome;   Stuve-Wiedemann-Schwartz-Jampel type 2 syndrome;   Stüve-Wiedemann syndrome
 primary_id: MESH:C537502
 alt_id: OMIM:601559
For additional species annotation, visit the Alliance of Genome Resources.



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Stuve-Wiedemann Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspg2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome ClinVar PMID:25741868 NCBI chr 5:149,677,437...149,778,594 JBrowse link
G Il6st interleukin 6 cytokine family signal transducer ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome
ClinVar Annotator: match by term: Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome
ClinVar PMID:25741868 NCBI chr 2:44,065,979...44,106,255
Ensembl chr 2:44,066,130...44,109,936
JBrowse link
G Lifr LIF receptor subunit alpha ISO ClinVar Annotator: match by term: Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome
ClinVar Annotator: match by term: Stuve-Wiedemann syndrome
ClinVar Annotator: match by OMIM:601559
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:14740318 PMID:17576681 PMID:19603067 PMID:24033266 More... NCBI chr 2:56,224,393...56,292,988
Ensembl chr 2:56,250,120...56,286,699
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      Stuve-Wiedemann Syndrome 3
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      musculoskeletal system disease 6466
        connective tissue disease 4447
          bone disease 3124
            bone development disease 1425
              osteochondrodysplasia 478
                Osteochondroma 9
                  Osteochondromatosis 9
                    hereditary multiple exostoses 9
                      Stuve-Wiedemann Syndrome 3
paths to the root