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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
 primary_id: OMIM:616546
For additional species annotation, visit the Alliance of Genome Resources.



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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 LOC690035 similar to Protein KIAA0586 ISO 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 chr 6:89,622,711...89,725,951
Ensembl chr 6:89,623,699...89,725,962
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    syndrome 9705
      asphyxiating thoracic dystrophy 124
        short-rib thoracic dysplasia 14 with polydactyly 1
Path 2
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      musculoskeletal system disease 7231
        connective tissue disease 5121
          bone disease 3801
            bone development disease 1876
              osteochondrodysplasia 615
                asphyxiating thoracic dystrophy 124
                  short-rib thoracic dysplasia 14 with polydactyly 1
paths to the root