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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:9009129 term browser browse the term
Definition:A syndrome featuring short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies. Distinctive facial features include midface retrusion, short upturned nose, long philtrum, high-arched or cleft palate, and variable degrees of micrognathia and dental crowding. Skeletal anomalies include patterning defects of the axial skeleton, characterized by 11 pairs of ribs and brachydactyly of the fifth ray. (OMIM)
Synonyms:exact_synonym: SSFSC
 primary_id: OMIM:617877
For additional species annotation, visit the Alliance of Genome Resources.


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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
OMIM
PMID:25741868 PMID:29198724 NCBI chr 3:126,335,963...126,346,771
Ensembl chr 3:126,335,863...126,346,318
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      bone development disease 1344
        Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      musculoskeletal system disease 5799
        connective tissue disease 4166
          bone disease 3538
            bone development disease 1344
              Dwarfism 496
                Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies 1
paths to the root