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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 chr20:6,765,161...6,777,728
Ensembl chr20:6,546,173...6,558,610 		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:28492532 PMID:29198724 PMID:35227291 NCBI chr20:6,765,161...6,777,728
Ensembl chr20:6,546,173...6,558,610 		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 chr 6:34,776,605...34,815,808
Ensembl chr 6:35,872,590...35,911,272 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    Developmental Disease 17885
      bone development disease 2299
        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 17996
    disease of anatomical entity 15260
      musculoskeletal system disease 7804
        connective tissue disease 5332
          bone disease 3850
            bone development disease 2299
              Dwarfism 851
                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