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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 2
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Accession:DOID:9000702 term browser browse the term
Definition:This disease is an autosomal recessive lethal skeletal dysplasia characterized by short stature, small chest, bowing of the long bones, and neonatal cardiopulmonary and autonomous dysfunction.
Synonyms:exact_synonym: STWS2;   STÜVE-WIEDEMANN SYNDROME 2
 primary_id: OMIM:619751
For additional species annotation, visit the Alliance of Genome Resources.



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STUVE-WIEDEMANN SYNDROME 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il6st interleukin 6 cytokine family signal transducer ISO ClinVar Annotator: match by term: Stüve-Wiedemann syndrome 2 OMIM
ClinVar
PMID:25741868 PMID:31914175 NCBI chr 2:44,065,979...44,106,255
Ensembl chr 2:44,066,130...44,109,936
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    syndrome 9634
      STUVE-WIEDEMANN SYNDROME 2 1
Path 2
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      musculoskeletal system disease 7162
        connective tissue disease 4954
          bone disease 3629
            bone development disease 1807
              osteochondrodysplasia 608
                Osteochondroma 24
                  Osteochondromatosis 24
                    hereditary multiple exostoses 24
                      STUVE-WIEDEMANN SYNDROME 2 1
paths to the root