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ONTOLOGY REPORT - ANNOTATIONS


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;   RDO:9001553
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short-rib thoracic dysplasia 14 with polydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC690035 similar to Protein KIAA0586 JBrowse link 6 93,562,775 93,667,857 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15502
    syndrome 5379
      asphyxiating thoracic dystrophy 40
        short-rib thoracic dysplasia 14 with polydactyly 1
Path 2
Term Annotations click to browse term
  disease 15502
    disease of anatomical entity 14856
      musculoskeletal system disease 5118
        connective tissue disease 3771
          bone disease 3277
            bone development disease 1089
              osteochondrodysplasia 415
                asphyxiating thoracic dystrophy 40
                  short-rib thoracic dysplasia 14 with 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.