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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, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY
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Accession:DOID:9000738 term browser browse the term
Definition:This is a disease characterized by marked short stature, oligodontia, mild facial dysmorphism, and motor delay.
Synonyms:exact_synonym: SOFM
 pimary_id: OMIM:619234
For additional species annotation, visit the Alliance of Genome Resources.


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SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr3gl RNA polymerase III subunit GL ISO ClinVar Annotator: match by term: SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY ClinVar
OMIM
PMID:31089205 PMID:31695177 NCBI chr 2:184,111,570...184,129,200 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17160
    Stomatognathic Diseases 1004
      tooth disease 297
        anodontia 42
          SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY 1
Path 2
Term Annotations click to browse term
  disease 17160
    disease of anatomical entity 16500
      nervous system disease 12095
        sensory system disease 5603
          mouth disease 776
            tooth disease 297
              Tooth Abnormalities 156
                anodontia 42
                  SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY 1
paths to the root