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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, hearing loss, retinitis pigmentosa, and distinctive facies
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Accession:DOID:0081175 term browser browse the term
Definition:A syndrome that is characterized by short stature, brachydactyly, dysmorphic facial features, hearing loss, and visual impairment and that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC2 gene on chromosome 9q34. (DO)
Synonyms:exact_synonym: EXOSC2-RELATED CONDITION;   SHRF
 primary_id: MIM:617763
 alt_id: DOID:9009102
 xref: ORDO:494439


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short stature, hearing loss, retinitis pigmentosa, and distinctive facies term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Exosc2 exosome component 2 ISO ClinVar Annotator: match by term: EXOSC2-related condition | ClinVar Annotator: match by term: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES | ClinVar Annotator: match by term: Short stature, hearing loss, retinitis pigmentosa, and distinctive facies OMIM
ClinVar		 PMID:14647208 PMID:15060126 PMID:16199547 PMID:24447024 PMID:25741868 More... NCBI chr 3:14,962,930...14,973,645
Ensembl chr 3:14,962,917...14,973,575 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19145
    syndrome 11406
      short stature, hearing loss, retinitis pigmentosa, and distinctive facies 1
Path 2
Term Annotations click to browse term
  disease 19145
    disease of anatomical entity 18457
      nervous system disease 14363
        Neurologic Manifestations 10461
          sensory system disease 7372
            eye disease 3728
              eye degenerative disease 932
                retinal degeneration 930
                  fundus dystrophy 786
                    retinitis pigmentosa 607
                      short stature, hearing loss, retinitis pigmentosa, and distinctive facies 1
paths to the root