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ONTOLOGY REPORT - ANNOTATIONS


Term:short-rib thoracic dysplasia 9 with or without polydactyly
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Accession:DOID:0110097 term browser browse the term
Definition:An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13. (DO)
Synonyms:exact_synonym: MZSDS;   Mainzer-Saldino chondrodysplasia;   Mainzer-Saldino disease;   Mainzer-Saldino syndrome;   SRTD9;   conorenal dysplasia;   conorenal syndrome;   renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia;   short-rib thoracic dysplasia 9
 narrow_synonym: SHORT-RIB THORACIC DYSPLASIA WITHOUT POLYDACTYLY
 primary_id: MESH:C535463
 alt_id: OMIM:266920;   RDO:0000588
For additional species annotation, visit the Alliance of Genome Resources.


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short-rib thoracic dysplasia 9 with or without polydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ift140 intraflagellar transport 140 JBrowse link 10 14,373,668 14,461,509 RGD:7240710
RGD:8554872

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 9 with or without polydactyly 1
Path 2
Term Annotations click to browse term
  disease 15502
    disease of anatomical entity 14856
      nervous system disease 10270
        central nervous system disease 8409
          brain disease 7762
            movement disease 1010
              Dyskinesias 717
                Ataxia 309
                  Spinocerebellar Ataxias 201
                    cerebellar ataxia 174
                      short-rib thoracic dysplasia 9 with or without polydactyly 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.