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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-Rib Thoracic Dysplasia 16 with or without Polydactyly
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Accession:DOID:9006222 term browser browse the term
Synonyms:exact_synonym: SRTD16
 primary_id: OMIM:617102


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Short-Rib Thoracic Dysplasia 16 with or without Polydactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IFT52 intraflagellar transport 52 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 16 with or without polydactyly OMIM
ClinVar		 PMID:25741868 PMID:26880018 PMID:27466190 PMID:28492532 PMID:30242358 More... NCBI chr20:39,929,523...39,986,072
Ensembl chr20:41,023,517...41,080,500 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    syndrome 10166
      asphyxiating thoracic dystrophy 235
        Short-Rib Thoracic Dysplasia 16 with or without Polydactyly 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
              osteochondrodysplasia 870
                asphyxiating thoracic dystrophy 235
                  Short-Rib Thoracic Dysplasia 16 with or without Polydactyly 1
paths to the root