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Term:asphyxiating thoracic dystrophy 3
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Accession:DOID:0110087 term browser browse the term
Definition:An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22. (DO)
Synonyms:exact_synonym: ATD3;   DYNC2H1-RELATED DISORDER;   Polydactyly With Neonatal Chondrodystrophy, Type III;   SALDINO-NOONAN SYNDROME;   SHORT RIB-POLYDACTYLY SYNDROME, TYPE I;   SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIB;   SRPS1;   SRPS2B;   SRPS3;   SRTD3;   Short Rib-Polydactyly Syndrome, Type III;   Verma-Naumoff syndrome;   polydactyly with neonatal chondrodystrophy, type 3;   polydactyly with neonatal chondrodystrophy, type I;   short rib-polydactyly syndrome, Verma-Naumoff type;   short-rib thoracic dysplasia 3 with or without polydactyly
 primary_id: MESH:C537602
 alt_id: OMIM:613091;   RDO:0003472;   RDO:0009762
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asphyxiating thoracic dystrophy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep290 centrosomal protein 290 JBrowse link 7 40,217,269 40,306,327 RGD:8554872
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 JBrowse link 8 5,217,054 5,436,969 RGD:8554872
G Fam98c family with sequence similarity 98, member C JBrowse link 1 88,095,240 88,098,828 RGD:8554872
G Ift80 intraflagellar transport 80 JBrowse link 2 165,506,878 165,600,748 RGD:13592920
G Nek1 NIMA-related kinase 1 JBrowse link 16 32,321,010 32,439,421 RGD:8554872
G Tctex1d2 Tctex1 domain containing 2 JBrowse link 11 71,593,302 71,601,662 RGD:8554872
G Tmem256 transmembrane protein 256 JBrowse link 10 56,446,022 56,447,138 RGD:8554872
G Wdr34 WD repeat domain 34 JBrowse link 3 8,599,251 8,615,329 RGD:8554872
G Wdr60 WD repeat domain 60 JBrowse link 6 144,069,077 144,124,975 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15609
    syndrome 5791
      asphyxiating thoracic dystrophy 41
        asphyxiating thoracic dystrophy 3 9
Path 2
Term Annotations click to browse term
  disease 15609
    disease of anatomical entity 14966
      musculoskeletal system disease 5304
        connective tissue disease 3934
          bone disease 3431
            bone development disease 1243
              osteochondrodysplasia 415
                asphyxiating thoracic dystrophy 41
                  asphyxiating thoracic dystrophy 3 9
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.