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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 11 with or without polydactyly
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Accession:DOID:0110095 term browser browse the term
Definition:An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WDR34 gene on chromosome 9q34. (DO)
Synonyms:exact_synonym: SRTD11
 primary_id: OMIM:615633
 xref: ICD10CM:Q77.2
For additional species annotation, visit the Alliance of Genome Resources.


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short-rib thoracic dysplasia 11 with or without polydactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dync2i2 dynein 2 intermediate chain 2 ISO ClinVar Annotator: match by OMIM:615633
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 11 with or without polydactyly
OMIM
ClinVar
PMID:19610081 PMID:24183449 PMID:24183451 PMID:28492532 PMID:29068549 NCBI chr 3:8,599,251...8,615,329
Ensembl chr 3:8,599,148...8,615,532
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G Sptan1 spectrin, alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 11 with or without polydactyly ClinVar PMID:28492532 NCBI chr 3:8,534,437...8,599,259
Ensembl chr 3:8,534,440...8,599,260
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      asphyxiating thoracic dystrophy 43
        short-rib thoracic dysplasia 11 with or without polydactyly 2
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      musculoskeletal system disease 5799
        connective tissue disease 4166
          bone disease 3538
            bone development disease 1344
              osteochondrodysplasia 449
                asphyxiating thoracic dystrophy 43
                  short-rib thoracic dysplasia 11 with or without polydactyly 2
paths to the root