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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:615503
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 8 with or without polydactyly
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:23910462 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:144,069,077...144,124,975
Ensembl chr 6:144,069,022...144,123,729
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    syndrome 7575
      asphyxiating thoracic dystrophy 43
        short-rib thoracic dysplasia 8 with or without polydactyly 1
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      musculoskeletal system disease 6244
        connective tissue disease 4355
          bone disease 3040
            bone development disease 1371
              osteochondrodysplasia 449
                asphyxiating thoracic dystrophy 43
                  short-rib thoracic dysplasia 8 with or without polydactyly 1
paths to the root