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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
 primary_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 OMIM
ClinVar
PMID:31089205 PMID:31695177 NCBI chr 2:184,111,570...184,129,200
Ensembl chr 2:184,112,510...184,129,114
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    Stomatognathic Diseases 1154
      tooth disease 297
        anodontia 41
          SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY 1
Path 2
Term Annotations click to browse term
  disease 18133
    disease of anatomical entity 17503
      nervous system disease 13174
        sensory system disease 6388
          mouth disease 833
            tooth disease 297
              Tooth Abnormalities 155
                anodontia 41
                  SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY 1
paths to the root