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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 14 with polydactyly
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Accession:DOID:0110096 term browser browse the term
Definition:An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the KIAA0586 gene on chromosome 14q23. (DO)
Synonyms:exact_synonym: SRTD14
 broad_synonym: KIAA0586-RELATED CONDITION
 primary_id: OMIM:616546


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short-rib thoracic dysplasia 14 with polydactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIAA0586 KIAA0586 ortholog ISO ClinVar Annotator: match by term: KIAA0586-related condition | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 14 with polydactyly OMIM
ClinVar		 PMID:2080096 PMID:9536098 PMID:17576681 PMID:20301500 PMID:24033266 More... NCBI chr14:39,019,518...39,139,460
Ensembl chr14:57,288,938...57,405,726 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    syndrome 10166
      asphyxiating thoracic dystrophy 235
        short-rib thoracic dysplasia 14 with polydactyly 1
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      musculoskeletal system disease 7804
        connective tissue disease 5332
          bone disease 3850
            bone development disease 2299
              osteochondrodysplasia 870
                asphyxiating thoracic dystrophy 235
                  short-rib thoracic dysplasia 14 with polydactyly 1
paths to the root