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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:Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies
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Accession:DOID:9004675 term browser browse the term
Synonyms:xref: OMIM:PS617877


show annotations for term's descendants           Sort by:
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp2 bone morphogenetic protein 2 ISO ClinVar Annotator: match by term: Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies ClinVar PMID:25741868 PMID:28492532 PMID:29198724 NCBI chr 3:120,812,660...120,822,579
Ensembl chr 3:120,812,882...120,821,397 		JBrowse link
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp2 bone morphogenetic protein 2 ISO ClinVar Annotator: match by term: Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 OMIM
ClinVar		 PMID:21671386 PMID:25741868 PMID:29198724 PMID:35227291 NCBI chr 3:120,812,660...120,822,579
Ensembl chr 3:120,812,882...120,821,397 		JBrowse link
short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scube3 signal peptide, CUB domain and EGF like domain containing 3 ISO ClinVar Annotator: match by term: Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 OMIM
ClinVar		 PMID:25741868 PMID:33308444 NCBI chr20:6,199,182...6,231,100
Ensembl chr20:6,199,182...6,228,584 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21108
    Developmental Disease 18429
      bone development disease 2248
        Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies 2
          Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies 1 1
          short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 1
Path 2
Term Annotations click to browse term
  disease 21108
    disease of anatomical entity 18147
      musculoskeletal system disease 8203
        connective tissue disease 5696
          bone disease 4210
            bone development disease 2248
              Dwarfism 831
                Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies 2
                  Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies 1 1
                  short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 1
paths to the root