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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 8 with or without polydactyly
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Accession:DOID:0110094 term browser browse the term
Definition:An asphyxiating thoracic dystrophy that has_material_basis_in compound heterozygous mutation in the WDR60 gene on chromosome 7q36. (DO)
Synonyms:exact_synonym: SHORT RIB-POLYDACTYLY SYNDROME, TYPE VI;   SRPS6;   SRTD8;   short rib polydactyly syndrome 6
 primary_id: OMIM:615503


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short-rib thoracic dysplasia 8 with or without polydactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DYNC2I1 dynein 2 intermediate chain 1 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 8 with or without polydactyly OMIM
ClinVar		 PMID:9068549 PMID:9536098 PMID:17576681 PMID:23910462 PMID:24033266 More... NCBI chr16:20,810,735...20,859,441
Ensembl chr16:20,810,345...20,859,037 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    syndrome 10064
      asphyxiating thoracic dystrophy 232
        short-rib thoracic dysplasia 8 with or without polydactyly 1
Path 2
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      musculoskeletal system disease 7742
        connective tissue disease 5279
          bone disease 3826
            bone development disease 2275
              osteochondrodysplasia 862
                asphyxiating thoracic dystrophy 232
                  short-rib thoracic dysplasia 8 with or without polydactyly 1
paths to the root