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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 18 with polydactyly
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Accession:DOID:0080293 term browser browse the term
Definition:An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24. (DO)
Synonyms:exact_synonym: SRTD18
 primary_id: OMIM:617866

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short-rib thoracic dysplasia 18 with polydactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift43 intraflagellar transport 43 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 18 with polydactyly OMIM
ClinVar		 PMID:21378380 PMID:25741868 PMID:28400947 PMID:28492532 NCBI chrNW_004936488:5,011,792...5,090,980
Ensembl chrNW_004936488:5,011,642...5,091,007 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    syndrome 9489
      asphyxiating thoracic dystrophy 224
        short-rib thoracic dysplasia 18 with polydactyly 1
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14116
      musculoskeletal system disease 7377
        connective tissue disease 5008
          bone disease 3672
            bone development disease 2181
              osteochondrodysplasia 832
                asphyxiating thoracic dystrophy 224
                  short-rib thoracic dysplasia 18 with polydactyly 1
paths to the root