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ONTOLOGY REPORT - ANNOTATIONS


Term:asphyxiating thoracic dystrophy
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Accession:DOID:0050592 term browser browse the term
Definition:A syndrome inherited as an autosomal recessive trait and incompatible with life. The main features are narrow thorax, short ribs, scapular and pelvic dysplasia, and polydactyly.
Synonyms:exact_synonym: Jeune syndrome;   Jeune thoracic dysplasia;   Jeune thoracic dystrophy;   Jeune's syndrome;   asphyxiating thoracic dystrophy (ATD);   asphyxiating thoracic dystrophy 3;   conorenal syndrome;   short rib polydactyly syndrome, Majewski type;   short rib-polydactyly syndrome;   short rib-polydactyly syndromes;   short-rib thoracic dysplasia with or without polydactyly;   thoracic pelvic phalangeal dystrophy
 narrow_synonym: short ribs
 primary_id: MESH:D012779
 alt_id: RDO:0003471
 xref: OMIM:PS208500;   ORDO:474
For additional species annotation, visit the Alliance of Genome Resources.


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asphyxiating thoracic dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B9d1 B9 domain containing 1 JBrowse link 10 47,784,294 47,794,399 RGD:8554872
G C2cd3 C2 calcium-dependent domain containing 3 JBrowse link 1 165,382,279 165,480,088 RGD:8554872
G Cep120 centrosomal protein 120 JBrowse link 18 48,658,495 48,720,570 RGD:11554173
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:8554872
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 JBrowse link 8 5,217,054 5,436,969 RGD:11554173
RGD:8554872
G Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 JBrowse link 6 7,900,962 7,933,795 RGD:11554173
RGD:8554872
G Evc EvC ciliary complex subunit 1 JBrowse link 14 78,213,601 78,253,266 RGD:8554872
G Evc2 EvC ciliary complex subunit 2 JBrowse link 14 78,128,620 78,212,394 RGD:8554872
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:8554872
G Flvcr1 feline leukemia virus subgroup C cellular receptor 1 JBrowse link 13 109,624,167 109,629,609 RGD:8554872
G Fuz fuzzy planar cell polarity protein JBrowse link 1 100,891,832 100,896,811 RGD:8554872
G Ick intestinal cell kinase JBrowse link 8 85,413,998 85,473,374 RGD:8554872
G Ift140 intraflagellar transport 140 JBrowse link 10 14,373,668 14,461,509 RGD:11554173
RGD:8554872
G Ift172 intraflagellar transport 172 JBrowse link 6 26,390,686 26,485,459 RGD:11554173
RGD:8554872
G Ift43 intraflagellar transport 43 JBrowse link 6 109,939,323 110,016,646 RGD:8554872
G Ift52 intraflagellar transport 52 JBrowse link 3 159,388,868 159,413,358 RGD:11554173
RGD:8554872
G Ift74 intraflagellar transport 74 JBrowse link 5 113,579,065 113,682,485 RGD:8554872
G Ift80 intraflagellar transport 80 JBrowse link 2 165,506,878 165,600,748 RGD:8554872
G Ift81 intraflagellar transport 81 JBrowse link 12 39,420,161 39,507,412 RGD:8554872
G Ift88 intraflagellar transport 88 JBrowse link 15 37,690,417 37,786,855 RGD:8554872
G Intu inturned planar cell polarity protein JBrowse link 2 127,589,325 127,611,705 RGD:8554872
G Lbr lamin B receptor JBrowse link 13 100,431,390 100,450,209 RGD:8554872
G LOC690035 similar to Protein KIAA0586 JBrowse link 6 93,562,775 93,667,857 RGD:11554173
RGD:8554872
G Matn3 matrilin 3 JBrowse link 6 34,071,428 34,091,048 RGD:8554872
G Nek1 NIMA-related kinase 1 JBrowse link 16 32,321,010 32,439,421 RGD:8554872
RGD:11554173
RGD:11069733
RGD:11072153
G RGD1304728 similar to 4933427D14Rik protein JBrowse link 10 58,726,721 58,776,718 RGD:8554872
G Sltm SAFB-like, transcription modulator JBrowse link 8 76,977,698 77,022,847 RGD:8554872
G Smarcad1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1` JBrowse link 4 95,884,020 95,945,248 RGD:13592920
G Smc4 structural maintenance of chromosomes 4 JBrowse link 2 165,600,934 165,629,415 RGD:8554872
G Tctex1d2 Tctex1 domain containing 2 JBrowse link 11 71,593,302 71,601,662 RGD:11554173
G Traf3ip1 TRAF3 interacting protein 1 JBrowse link 9 98,621,499 98,658,223 RGD:8554872
G Ttc21b tetratricopeptide repeat domain 21B JBrowse link 3 52,286,794 52,361,060 RGD:11554173
RGD:8554872
G Wdr19 WD repeat domain 19 JBrowse link 14 44,705,012 44,767,120 RGD:8554872
G Wdr34 WD repeat domain 34 JBrowse link 3 8,599,251 8,615,329 RGD:11554173
RGD:8554872
G Wdr35 WD repeat domain 35 JBrowse link 6 34,094,291 34,152,048 RGD:8554872
RGD:11554173
G Wdr60 WD repeat domain 60 JBrowse link 6 144,069,077 144,124,975 RGD:11554173
RGD:8554872
G Xpa XPA, DNA damage recognition and repair factor JBrowse link 5 61,749,767 61,793,641 RGD:8554872
asphyxiating thoracic dystrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcg5 ATP binding cassette subfamily G member 5 JBrowse link 6 7,935,771 7,961,207 RGD:8554872
G Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 JBrowse link 6 7,900,962 7,933,795 RGD:8554872
G Ift140 intraflagellar transport 140 JBrowse link 10 14,373,668 14,461,509 RGD:8554872
RGD:13592920
G Nek1 NIMA-related kinase 1 JBrowse link 16 32,321,010 32,439,421 RGD:8554872
G Ttc21b tetratricopeptide repeat domain 21B JBrowse link 3 52,286,794 52,361,060 RGD:11554173
asphyxiating thoracic dystrophy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ift80 intraflagellar transport 80 JBrowse link 2 165,506,878 165,600,748 RGD:7240710
RGD:8554872
asphyxiating thoracic dystrophy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bbs10 Bardet-Biedl syndrome 10 JBrowse link 7 54,030,229 54,034,354 RGD:8554872
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 JBrowse link 8 5,217,054 5,436,969 RGD:8554872
RGD:7240710
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
G Xpa XPA, DNA damage recognition and repair factor JBrowse link 5 61,749,767 61,793,641 RGD:8554872
asphyxiating thoracic dystrophy 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ttc21b tetratricopeptide repeat domain 21B JBrowse link 3 52,286,794 52,361,060 RGD:7240710
RGD:8554872
asphyxiating thoracic dystrophy 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wdr19 WD repeat domain 19 JBrowse link 14 44,705,012 44,767,120 RGD:7240710
RGD:8554872
Beemer-Langer syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 JBrowse link 8 5,217,054 5,436,969 RGD:8554872
G Evc2 EvC ciliary complex subunit 2 JBrowse link 14 78,128,620 78,212,394 RGD:8554872
G Ift80 intraflagellar transport 80 JBrowse link 2 165,506,878 165,600,748 RGD:8554872
G Nek1 NIMA-related kinase 1 JBrowse link 16 32,321,010 32,439,421 RGD:8554872
G Ttc21b tetratricopeptide repeat domain 21B JBrowse link 3 52,286,794 52,361,060 RGD:8554872
G Wdr19 WD repeat domain 19 JBrowse link 14 44,705,012 44,767,120 RGD:8554872
Saldino-Noonan syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 JBrowse link 8 5,217,054 5,436,969 RGD:8554872
G Xpa XPA, DNA damage recognition and repair factor JBrowse link 5 61,749,767 61,793,641 RGD:8554872
short-rib thoracic dysplasia 10 with or without polydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ift172 intraflagellar transport 172 JBrowse link 6 26,390,686 26,485,459 RGD:7240710
RGD:8554872
G Krtcap3 keratinocyte associated protein 3 JBrowse link 6 26,485,126 26,486,695 RGD:8554872
short-rib thoracic dysplasia 11 with or without polydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sptan1 spectrin, alpha, non-erythrocytic 1 JBrowse link 3 8,534,437 8,599,259 RGD:8554872
G Wdr34 WD repeat domain 34 JBrowse link 3 8,599,251 8,615,329 RGD:7240710
RGD:8554872
short-rib thoracic dysplasia 13 with or without polydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep120 centrosomal protein 120 JBrowse link 18 48,658,495 48,720,570 RGD:7240710
RGD:8554872
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
Short-Rib Thoracic Dysplasia 15 with Polydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcg5 ATP binding cassette subfamily G member 5 JBrowse link 6 7,935,771 7,961,207 RGD:8554872
G Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 JBrowse link 6 7,900,962 7,933,795 RGD:8554872
RGD:7240710
Short-Rib Thoracic Dysplasia 16 with or without Polydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ift52 intraflagellar transport 52 JBrowse link 3 159,388,868 159,413,358 RGD:8554872
RGD:7240710
Short-Rib Thoracic Dysplasia 17 with or without Polydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tctex1d2 Tctex1 domain containing 2 JBrowse link 11 71,593,302 71,601,662 RGD:8554872
RGD:7240710
short-rib thoracic dysplasia 18 with polydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ift43 intraflagellar transport 43 JBrowse link 6 109,939,323 110,016,646 RGD:8554872
RGD:7240710
RGD:13592920
short-rib thoracic dysplasia 19 with or without polydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ift81 intraflagellar transport 81 JBrowse link 12 39,420,161 39,507,412 RGD:13592920
RGD:7240710
RGD:8554872
Short-Rib Thoracic Dysplasia 20 with Polydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Intu inturned planar cell polarity protein JBrowse link 2 127,589,325 127,611,705 RGD:8554872
RGD:7240710
G Wdr35 WD repeat domain 35 JBrowse link 6 34,094,291 34,152,048 RGD:8554872
short-rib thoracic dysplasia 6 with or without polydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 JBrowse link 8 5,217,054 5,436,969 RGD:8554872
G Nek1 NIMA-related kinase 1 JBrowse link 16 32,321,010 32,439,421 RGD:7240710
RGD:8554872
G Xpa XPA, DNA damage recognition and repair factor JBrowse link 5 61,749,767 61,793,641 RGD:8554872
short-rib thoracic dysplasia 7 with or without polydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wdr35 WD repeat domain 35 JBrowse link 6 34,094,291 34,152,048 RGD:7240710
RGD:8554872
short-rib thoracic dysplasia 8 with or without polydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wdr60 WD repeat domain 60 JBrowse link 6 144,069,077 144,124,975 RGD:7240710
RGD:8554872
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 14759
    syndrome 4210
      asphyxiating thoracic dystrophy 43
        Beemer-Langer syndrome 6
        Saldino-Noonan syndrome 2
        Short-Rib Thoracic Dysplasia 15 with Polydactyly 2
        Short-Rib Thoracic Dysplasia 16 with or without Polydactyly 1
        Short-Rib Thoracic Dysplasia 17 with or without Polydactyly 1
        Short-Rib Thoracic Dysplasia 20 with Polydactyly 2
        asphyxiating thoracic dystrophy 1 5
        asphyxiating thoracic dystrophy 2 1
        asphyxiating thoracic dystrophy 3 10
        asphyxiating thoracic dystrophy 4 1
        asphyxiating thoracic dystrophy 5 1
        short-rib thoracic dysplasia 10 with or without polydactyly 2
        short-rib thoracic dysplasia 11 with or without polydactyly 2
        short-rib thoracic dysplasia 13 with or without polydactyly 1
        short-rib thoracic dysplasia 14 with polydactyly 1
        short-rib thoracic dysplasia 18 with polydactyly 1
        short-rib thoracic dysplasia 19 with or without polydactyly 1
        short-rib thoracic dysplasia 6 with or without polydactyly 3
        short-rib thoracic dysplasia 7 with or without polydactyly 1
        short-rib thoracic dysplasia 8 with or without polydactyly 1
        short-rib thoracic dysplasia 9 with or without polydactyly 1
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      musculoskeletal system disease 3973
        connective tissue disease 2568
          bone disease 2114
            bone development disease 891
              osteochondrodysplasia 402
                asphyxiating thoracic dystrophy 43
                  Beemer-Langer syndrome 6
                  Saldino-Noonan syndrome 2
                  Short-Rib Thoracic Dysplasia 15 with Polydactyly 2
                  Short-Rib Thoracic Dysplasia 16 with or without Polydactyly 1
                  Short-Rib Thoracic Dysplasia 17 with or without Polydactyly 1
                  Short-Rib Thoracic Dysplasia 20 with Polydactyly 2
                  asphyxiating thoracic dystrophy 1 5
                  asphyxiating thoracic dystrophy 2 1
                  asphyxiating thoracic dystrophy 3 10
                  asphyxiating thoracic dystrophy 4 1
                  asphyxiating thoracic dystrophy 5 1
                  short-rib thoracic dysplasia 10 with or without polydactyly 2
                  short-rib thoracic dysplasia 11 with or without polydactyly 2
                  short-rib thoracic dysplasia 13 with or without polydactyly 1
                  short-rib thoracic dysplasia 14 with polydactyly 1
                  short-rib thoracic dysplasia 18 with polydactyly 1
                  short-rib thoracic dysplasia 19 with or without polydactyly 1
                  short-rib thoracic dysplasia 6 with or without polydactyly 3
                  short-rib thoracic dysplasia 7 with or without polydactyly 1
                  short-rib thoracic dysplasia 8 with or without polydactyly 1
                  short-rib thoracic dysplasia 9 with or without polydactyly 1
paths to the root