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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 19 with or without polydactyly
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Accession:DOID:0080295 term browser browse the term
Definition:An asphyxiating thoracic dystrophy that has_material_basis_in compound heterozygous mutation in the IFT81 gene on chromosome 12q24. (DO)
Synonyms:exact_synonym: SRTD19;   short-rib thoracic dysplasia 19 without polydactyly
 primary_id: OMIM:617895
For additional species annotation, visit the Alliance of Genome Resources.


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short-rib thoracic dysplasia 19 with or without polydactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift81 intraflagellar transport 81 ISO ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY ClinVar
OMIM
PMID:25741868, PMID:27666822 NCBI chr12:39,420,161...39,507,412
Ensembl chr12:39,423,596...39,506,890
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      asphyxiating thoracic dystrophy 42
        short-rib thoracic dysplasia 19 with or without polydactyly 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      musculoskeletal system disease 5757
        connective tissue disease 4103
          bone disease 3534
            bone development disease 1343
              osteochondrodysplasia 446
                asphyxiating thoracic dystrophy 42
                  short-rib thoracic dysplasia 19 with or without polydactyly 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.