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Term:trichorhinophalangeal syndrome type I
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Accession:DOID:14743 term browser browse the term
Definition:An autosomal dominant disease that is characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses (the growing ends of bones), as well as severe generalized shortening of all finger and toe bones (brachydactyly). (DO)
Synonyms:exact_synonym: Giedion syndrome;   Sugio-Kajii syndrome;   TRPS I;   TRPS1;   Trichorhinophalangeal (TRP) syndrome 1;   Trichorhinophalangeal dysplasia 1;   trichorhinophalangeal syndrome type 1;   type III trichorhinophalangeal syndrome
 related_synonym: Trichorhinophalangeal dysplasia type I
 primary_id: MESH:C536820;   RDO:0008186
 alt_id: OMIM:190350;   RDO:0002513
For additional species annotation, visit the Alliance of Genome Resources.


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trichorhinophalangeal syndrome type I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aard alanine and arginine rich domain containing protein JBrowse link 7 91,588,458 91,593,299 RGD:8554872
G Acadl acyl-CoA dehydrogenase, long chain JBrowse link 9 73,833,368 73,871,857 RGD:8554872
G Anxa13 annexin A13 JBrowse link 7 98,217,642 98,270,442 RGD:8554872
G Atad2 ATPase family, AAA domain containing 2 JBrowse link 7 97,984,754 98,027,379 RGD:8554872
G Ccn3 cellular communication network factor 3 JBrowse link 7 94,375,134 94,382,154 RGD:8554872
G Col14a1 collagen type XIV alpha 1 chain JBrowse link 7 95,054,877 95,274,073 RGD:8554872
G Colec10 collectin subfamily member 10 JBrowse link 7 93,975,451 94,035,999 RGD:8554872
G Cps1 carbamoyl-phosphate synthase 1 JBrowse link 9 74,113,437 74,236,274 RGD:8554872
G Deptor DEP domain containing MTOR-interacting protein JBrowse link 7 94,795,161 95,000,750 RGD:8554872
G Derl1 derlin 1 JBrowse link 7 97,737,176 97,759,852 RGD:8554872
G Dscc1 DNA replication and sister chromatid cohesion 1 JBrowse link 7 94,759,076 94,774,787 RGD:8554872
G Eif3h eukaryotic translation initiation factor 3, subunit H JBrowse link 6 10,151,732 10,236,677 RGD:8554872
G Enpp2 ectonucleotide pyrophosphatase/phosphodiesterase 2 JBrowse link 7 94,479,931 94,563,086 RGD:8554872
G Erbb4 erb-b2 receptor tyrosine kinase 4 JBrowse link 9 75,021,790 76,178,936 RGD:8554872
G Ext1 exostosin glycosyltransferase 1 JBrowse link 7 92,605,008 92,881,392 RGD:8554872
G Fam83a family with sequence similarity 83, member A JBrowse link 7 97,855,773 97,880,227 RGD:8554872
G Fam84b family with sequence similarity 84, member B JBrowse link 7 101,138,188 101,142,123 RGD:8554872
G Fam91a1 family with sequence similarity 91, member A1 JBrowse link 7 98,302,803 98,341,201 RGD:8554872
G Fbxo32 F-box protein 32 JBrowse link 7 98,065,664 98,098,071 RGD:8554872
G Fer1l6 fer-1-like family member 6 JBrowse link 7 98,399,207 98,555,215 RGD:8554872
G Has2 hyaluronan synthase 2 JBrowse link 7 96,438,046 96,464,049 RGD:8554872
G Ikzf2 IKAROS family zinc finger 2 JBrowse link 9 76,621,230 76,771,017 RGD:8554872
G Kansl1l KAT8 regulatory NSL complex subunit 1-like JBrowse link 9 73,710,959 73,819,335 RGD:8554872
G Klhl38 kelch-like family member 38 JBrowse link 7 98,187,954 98,197,163 RGD:8554872
G Lancl1 LanC like 1 JBrowse link 9 74,018,192 74,048,098 RGD:8554872
G Mal2 mal, T-cell differentiation protein 2 JBrowse link 7 94,130,852 94,163,649 RGD:8554872
G Map2 microtubule-associated protein 2 JBrowse link 9 73,204,753 73,462,965 RGD:8554872
G Med30 mediator complex subunit 30 JBrowse link 7 92,234,584 92,260,019 RGD:8554872
G Mrpl13 mitochondrial ribosomal protein L13 JBrowse link 7 95,288,400 95,309,997 RGD:8554872
G Mtbp MDM2 binding protein JBrowse link 7 95,309,928 95,392,418 RGD:8554872
G Mtss1 MTSS1, I-BAR domain containing JBrowse link 7 98,820,799 98,960,878 RGD:8554872
G Myc MYC proto-oncogene, bHLH transcription factor JBrowse link 7 102,586,313 102,591,240 RGD:8554872
G Myl1 myosin, light chain 1 JBrowse link 9 73,937,820 73,958,480 RGD:8554872
G Ndufb9 NADH:ubiquinone oxidoreductase subunit B9 JBrowse link 7 98,813,062 98,819,408 RGD:8554872
G Nsmce2 NSE2/MMS21 homolog, SMC5-SMC6 complex SUMO ligase JBrowse link 7 99,677,295 99,900,765 RGD:8554872
G Pvt1 Pvt1 oncogene JBrowse link 7 102,648,394 102,871,316 RGD:8554872
G Rad21 RAD21 cohesin complex component JBrowse link 7 91,511,755 91,538,673 RGD:8554872
G RGD1310852 similar to RIKEN cDNA 9130401M01 JBrowse link 7 97,891,723 97,902,585 RGD:8554872
G Rnf139 ring finger protein 139 JBrowse link 7 98,770,840 98,782,025 RGD:8554872
G Rpe ribulose-5-phosphate-3-epimerase JBrowse link 9 73,687,684 73,713,643 RGD:8554872
G Samd12 sterile alpha motif domain containing 12 JBrowse link 7 92,995,599 93,286,757 RGD:8554872
G Slc30a8 solute carrier family 30 member 8 JBrowse link 7 91,832,988 91,869,329 RGD:8554872
G Sntb1 syntrophin, beta 1 JBrowse link 7 95,395,417 95,670,093 RGD:8554872
G Spag16 sperm associated antigen 16 JBrowse link 9 77,027,626 77,833,476 RGD:8554872
G Sqle squalene epoxidase JBrowse link 7 99,609,929 99,624,803 RGD:8554872
G Taf2 TATA-box binding protein associated factor 2 JBrowse link 7 94,698,987 94,755,924 RGD:8554872
G Tatdn1 TatD DNase domain containing 1 JBrowse link 7 98,782,164 98,813,001 RGD:8554872
G Tbc1d31 TBC1 domain family, member 31 JBrowse link 7 97,778,260 97,839,668 RGD:8554872
G Tmem65 transmembrane protein 65 JBrowse link 7 98,668,589 98,709,613 RGD:8554872
G Tnfrsf11b TNF receptor superfamily member 11B JBrowse link 7 93,798,580 93,826,586 RGD:8554872
G Trib1 tribbles pseudokinase 1 JBrowse link 7 99,954,492 99,961,026 RGD:8554872
G Trmt12 tRNA methyltransferase 12 JBrowse link 7 98,748,547 98,750,173 RGD:8554872
G Trps1 transcriptional repressor GATA binding 1 JBrowse link 7 90,085,895 90,320,430 RGD:7240710
RGD:8554872
G Unc80 unc-80 homolog, NALCN channel complex subunit JBrowse link 9 73,492,907 73,686,578 RGD:8554872
G Utp23 UTP23, small subunit processome component JBrowse link 7 91,384,329 91,389,605 RGD:8554872
G Washc5 WASH complex subunit 5 JBrowse link 7 99,625,379 99,677,237 RGD:8554872
G Wdyhv1 WDYHV motif containing 1 JBrowse link 7 97,957,022 97,977,158 RGD:8554872
G Zhx1 zinc fingers and homeoboxes 1 JBrowse link 7 97,915,280 97,944,787 RGD:8554872
G Zhx2 zinc fingers and homeoboxes 2 JBrowse link 7 97,559,653 97,707,872 RGD:8554872

Term paths to the root
Path 1
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  disease 14759
    syndrome 4210
      Trichorhinophalangeal Syndrome 59
        trichorhinophalangeal syndrome type I 59
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      Skin and Connective Tissue Diseases 3888
        connective tissue disease 2568
          bone disease 2114
            bone development disease 891
              osteochondrodysplasia 402
                Trichorhinophalangeal Syndrome 59
                  trichorhinophalangeal syndrome type I 59
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