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ONTOLOGY REPORT - ANNOTATIONS


Term:spondyloepimetaphyseal dysplasia
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Accession:DOID:0080027 term browser browse the term
Definition:An osteochondrodysplasia that results_in abnormalities of bone growth located_in vertebral column, located_in epiphysis, located_in metaphysis. (DO)
Synonyms:primary_id: RDO:9002943
 xref: OMIM:PS607095
For additional species annotation, visit the Alliance of Genome Resources.


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spondyloepimetaphyseal dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:13592920
G Ddr2 discoidin domain receptor tyrosine kinase 2 JBrowse link 13 88,311,639 88,436,561 RGD:8554872
G Mmp13 matrix metallopeptidase 13 JBrowse link 8 5,522,739 5,533,018 RGD:8554872
G Rpl13 ribosomal protein L13 JBrowse link 19 55,917,489 55,920,040 RGD:8554872
anauxetic dysplasia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arhgef39 Rho guanine nucleotide exchange factor 39 JBrowse link 5 58,998,209 59,001,779 RGD:8554872
G Ca9 carbonic anhydrase 9 JBrowse link 5 59,008,277 59,015,535 RGD:8554872
G Ccdc107 coiled-coil domain containing 107 JBrowse link 5 58,995,211 58,998,620 RGD:8554872
G Ccin calicin JBrowse link 5 59,452,348 59,454,235 RGD:8554872
G Ccl19 C-C motif chemokine ligand 19 JBrowse link 5 58,181,025 58,182,969 RGD:8554872
G Ccl21 C-C motif chemokine ligand 21 JBrowse link 5 58,197,678 58,198,782 RGD:8554872
G Ccl27 C-C motif chemokine ligand 27 JBrowse link 5 58,159,066 58,166,182 RGD:8554872
G Cd72 Cd72 molecule JBrowse link 5 58,943,021 58,950,373 RGD:8554872
G Clta clathrin, light chain A JBrowse link 5 59,490,689 59,509,139 RGD:8554872
G Creb3 cAMP responsive element binding protein 3 JBrowse link 5 59,063,532 59,068,196 RGD:8554872
G Dnajb5 DnaJ heat shock protein family (Hsp40) member B5 JBrowse link 5 58,393,197 58,402,162 RGD:8554872
G Fam166b family with sequence similarity 166, member B JBrowse link 5 58,883,064 58,884,136 RGD:8554872
G Fam205a family with sequence similarity 205, member A JBrowse link 5 58,282,202 58,303,075 RGD:8554872
G Fam205c family with sequence similarity 205, member C JBrowse link 5 58,303,741 58,310,209 RGD:8554872
G Fam214b family with sequence similarity 214, member B JBrowse link 5 58,477,894 58,484,900 RGD:8554872
G Fam221b family with sequence similarity 221, member B JBrowse link 5 59,156,079 59,165,440 RGD:8554872
G Fancg FA complementation group G JBrowse link 5 58,448,060 58,456,416 RGD:8554872
G Galt galactose-1-phosphate uridylyltransferase JBrowse link 5 58,144,679 58,147,946 RGD:8554872
G Gba2 glucosylceramidase beta 2 JBrowse link 5 59,068,081 59,079,719 RGD:8554872
G Glipr2 GLI pathogenesis-related 2 JBrowse link 5 59,415,415 59,446,732 RGD:8554872
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase JBrowse link 5 59,511,738 59,553,421 RGD:8554872
G Hint2 histidine triad nucleotide binding protein 2 JBrowse link 5 59,150,344 59,152,599 RGD:8554872
G Hrct1 histidine rich carboxyl terminus 1 JBrowse link 5 59,228,138 59,228,915 RGD:8554872
G Il11ra1 interleukin 11 receptor subunit alpha 1 JBrowse link 5 58,149,150 58,159,072 RGD:8554872
G LOC100360821 rCG55159-like JBrowse link 5 58,416,058 58,421,991 RGD:8554872
G Msmp microseminoprotein, prostate associated RGD:8554872
G Npr2 natriuretic peptide receptor 2 JBrowse link 5 59,128,186 59,147,321 RGD:8554872
G Olr834 olfactory receptor 834 JBrowse link 5 59,207,120 59,208,058 RGD:8554872
G Olr838 olfactory receptor 838 JBrowse link 5 59,291,988 59,292,944 RGD:8554872
G Phf24 PHD finger protein 24 JBrowse link 5 58,359,744 58,387,446 RGD:8554872
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O JBrowse link 5 58,461,055 58,470,699 RGD:8554872
G Pop1 POP1 homolog, ribonuclease P/MRP subunit JBrowse link 7 73,270,403 73,298,209 RGD:11554173
G Reck reversion-inducing-cysteine-rich protein with kazal motifs JBrowse link 5 59,348,568 59,415,169 RGD:8554872
G Rgp1 RGP1 homolog, RAB6A GEF complex partner 1 JBrowse link 5 59,080,290 59,088,777 RGD:8554872
G Rusc2 RUN and SH3 domain containing 2 JBrowse link 5 58,860,444 58,883,152 RGD:8554872
G Sit1 signaling threshold regulating transmembrane adaptor 1 JBrowse link 5 58,985,912 58,987,538 RGD:8554872
G Spag8 sperm associated antigen 8 JBrowse link 5 59,147,412 59,149,625 RGD:8554872
G Stoml2 stomatin like 2 JBrowse link 5 58,472,561 58,476,158 RGD:8554872
G Tesk1 testis associated actin remodelling kinase 1 JBrowse link 5 58,937,615 58,943,358 RGD:8554872
G Tln1 talin 1 JBrowse link 5 59,033,635 59,063,592 RGD:8554872
G Tmem8b transmembrane protein 8B JBrowse link 5 59,165,552 59,193,772 RGD:8554872
G Tpm2 tropomyosin 2 JBrowse link 5 59,016,616 59,025,971 RGD:8554872
G Unc13b unc-13 homolog B JBrowse link 5 58,505,449 58,714,396 RGD:8554872
G Vcp valosin-containing protein JBrowse link 5 58,426,548 58,445,953 RGD:8554872
Anauxetic Dysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pop1 POP1 homolog, ribonuclease P/MRP subunit JBrowse link 7 73,270,403 73,298,209 RGD:8554872
RGD:7240710
Dyggve-Melchior-Clausen disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dym dymeclin JBrowse link 18 70,996,074 71,313,033 RGD:7240710
RGD:8554872
Schimke immuno-osseous dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smarcal1 Swi/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 JBrowse link 9 79,943,775 79,990,230 RGD:1599053
RGD:8554872
RGD:11554173
RGD:7240710
Smith-McCort dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dym dymeclin JBrowse link 18 70,996,074 71,313,033 RGD:7240710
RGD:8554872
G Rab33b RAB33B, member RAS oncogene family JBrowse link 2 140,541,619 140,552,220 RGD:8554872
RGD:13592920
Smith-McCort Dysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rab33b RAB33B, member RAS oncogene family JBrowse link 2 140,541,619 140,552,220 RGD:7240710
RGD:8554872
Spondyloepimetaphyseal Dysplasia with Joint Laxity term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B3galt6 Beta-1,3-galactosyltransferase 6 JBrowse link 5 173,423,475 173,425,611 RGD:8554872
G Sdf4 stromal cell derived factor 4 JBrowse link 5 173,425,922 173,444,478 RGD:8554872
G Tnfrsf4 TNF receptor superfamily member 4 JBrowse link 5 173,447,784 173,450,474 RGD:8554872
Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B3galt6 Beta-1,3-galactosyltransferase 6 JBrowse link 5 173,423,475 173,425,611 RGD:7240710
RGD:8554872
Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif22 kinesin family member 22 JBrowse link 1 198,461,406 198,476,430 RGD:7240710
RGD:8554872
Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Exoc6b exocyst complex component 6B JBrowse link 4 116,314,695 116,786,466 RGD:7240710
RGD:8554872
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ufsp2 UFM1-specific peptidase 2 JBrowse link 16 49,465,958 49,484,975 RGD:8554872
RGD:7240710
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rspry1 ring finger and SPRY domain containing 1 JBrowse link 19 10,770,572 10,826,895 RGD:8554872
RGD:7240710
spondyloepimetaphyseal dysplasia, Genevieve-type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nans N-acetylneuraminate synthase JBrowse link 5 62,109,352 62,126,492 RGD:8554872
RGD:7240710
G Trim14 tripartite motif-containing 14 JBrowse link 5 62,128,941 62,154,424 RGD:8554872
Spondyloepimetaphyseal Dysplasia, Krakow Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sik3 SIK family kinase 3 JBrowse link 8 50,310,263 50,520,284 RGD:8554872
RGD:7240710
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Matn3 matrilin 3 JBrowse link 6 34,071,428 34,091,048 RGD:7240710
RGD:8554872
spondyloepimetaphyseal dysplasia, Missouri type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mmp13 matrix metallopeptidase 13 JBrowse link 8 5,522,739 5,533,018 RGD:7240710
RGD:8554872
spondyloepimetaphyseal dysplasia, Pakistani type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Papss2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 JBrowse link 1 251,145,264 251,230,716 RGD:7240710
RGD:8554872
Spondyloepimetaphyseal Dysplasia, Shohat Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ddrgk1 DDRGK domain containing 1 JBrowse link 3 123,195,580 123,206,828 RGD:8554872
RGD:7240710
spondyloepimetaphyseal dysplasia, Sponastrime type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tonsl tonsoku-like, DNA repair protein JBrowse link 7 117,688,397 117,703,139 RGD:7240710
RGD:8554872
spondyloepimetaphyseal dysplasia, Strudwick type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:7240710
RGD:8554872
G Fn1 fibronectin 1 JBrowse link 9 78,900,111 78,969,018 RGD:8554872
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 JBrowse link 12 47,698,915 47,737,902 RGD:8554872
Spondyloepimetaphyseal Dysplasia, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bgn biglycan JBrowse link X 157,319,042 157,331,204 RGD:8554872
RGD:7240710
spondyloepiphyseal dysplasia congenita term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chst3 carbohydrate sulfotransferase 3 JBrowse link 20 29,731,828 29,768,656 RGD:8554872
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:7240710
RGD:8554872
RGD:11667105
RGD:8657353
RGD:729929
G Hapln1 hyaluronan and proteoglycan link protein 1 JBrowse link 2 18,354,542 18,419,077 RGD:13592920
G Trappc2 trafficking protein particle complex 2 JBrowse link X 29,550,871 29,562,135 RGD:8554872
spondyloepiphyseal dysplasia tarda term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:8554872
G Trappc2 trafficking protein particle complex 2 JBrowse link X 29,550,871 29,562,135 RGD:8554872
RGD:7240710
spondyloepiphyseal dysplasia with congenital joint dislocations term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chst3 carbohydrate sulfotransferase 3 JBrowse link 20 29,731,828 29,768,656 RGD:7240710
RGD:8554872
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:8554872
G Trappc2 trafficking protein particle complex 2 JBrowse link X 29,550,871 29,562,135 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      bone development disease 983
        osteochondrodysplasia 408
          spondyloepimetaphyseal dysplasia 71
            Anauxetic Dysplasia 2 1
            Dyggve-Melchior-Clausen disease + 2
            SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE 1
            Schimke immuno-osseous dysplasia 1
            Spondyloepimetaphyseal Dysplasia with Abnormal Dentition 0
            Spondyloepimetaphyseal Dysplasia with Hypotrichosis 0
            Spondyloepimetaphyseal Dysplasia with Joint Laxity + 5
            Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type 1
            Spondyloepimetaphyseal Dysplasia, Irapa Type 0
            Spondyloepimetaphyseal Dysplasia, Krakow Type 1
            Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related 1
            Spondyloepimetaphyseal Dysplasia, Shohat Type 1
            Spondyloepimetaphyseal Dysplasia, X-Linked 1
            anauxetic dysplasia 1 44
            spondyloepimetaphyseal dysplasia, Genevieve-type 2
            spondyloepimetaphyseal dysplasia, Missouri type 1
            spondyloepimetaphyseal dysplasia, Pakistani type 1
            spondyloepimetaphyseal dysplasia, Sponastrime type 1
            spondyloepimetaphyseal dysplasia, Strudwick type 3
            spondyloepiphyseal dysplasia congenita 4
            spondyloepiphyseal dysplasia tarda + 2
            spondyloepiphyseal dysplasia with congenital joint dislocations 3
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      Skin and Connective Tissue Diseases 4211
        connective tissue disease 2763
          bone disease 2215
            bone development disease 983
              osteochondrodysplasia 408
                spondyloepimetaphyseal dysplasia 71
                  Anauxetic Dysplasia 2 1
                  Dyggve-Melchior-Clausen disease + 2
                  SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE 1
                  Schimke immuno-osseous dysplasia 1
                  Spondyloepimetaphyseal Dysplasia with Abnormal Dentition 0
                  Spondyloepimetaphyseal Dysplasia with Hypotrichosis 0
                  Spondyloepimetaphyseal Dysplasia with Joint Laxity + 5
                  Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type 1
                  Spondyloepimetaphyseal Dysplasia, Irapa Type 0
                  Spondyloepimetaphyseal Dysplasia, Krakow Type 1
                  Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related 1
                  Spondyloepimetaphyseal Dysplasia, Shohat Type 1
                  Spondyloepimetaphyseal Dysplasia, X-Linked 1
                  anauxetic dysplasia 1 44
                  spondyloepimetaphyseal dysplasia, Genevieve-type 2
                  spondyloepimetaphyseal dysplasia, Missouri type 1
                  spondyloepimetaphyseal dysplasia, Pakistani type 1
                  spondyloepimetaphyseal dysplasia, Sponastrime type 1
                  spondyloepimetaphyseal dysplasia, Strudwick type 3
                  spondyloepiphyseal dysplasia congenita 4
                  spondyloepiphyseal dysplasia tarda + 2
                  spondyloepiphyseal dysplasia with congenital joint dislocations 3
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.