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


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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
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 18 with polydactyly
ClinVar
OMIM
PMID:21378380 PMID:25741868 PMID:28400947 PMID:28492532 NCBI chr 6:109,939,323...110,016,646
Ensembl chr 6:109,939,345...110,016,644
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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 18 with 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 18 with polydactyly 1
paths to the root