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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Trichorhinophalangeal Syndrome
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Accession:DOID:9005517 term browser browse the term
Synonyms:exact_synonym: trichorhinophalangeal syndromes
 xref: OMIM:PS190350
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Trichorhinophalangeal Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trps1 transcriptional repressor GATA binding 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal Syndrome ClinVar NCBI chr 7:90,085,895...90,320,430
Ensembl chr 7:90,090,828...90,318,221
JBrowse link
trichorhinophalangeal syndrome type I term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aard alanine and arginine rich domain containing protein ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:91,588,458...91,593,299
Ensembl chr 7:91,588,458...91,593,297
JBrowse link
G Acadl acyl-CoA dehydrogenase, long chain ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 9:73,833,368...73,871,857
Ensembl chr 9:73,833,388...73,871,888
JBrowse link
G Anxa13 annexin A13 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:98,217,642...98,270,442
Ensembl chr 7:98,217,642...98,270,110
JBrowse link
G Atad2 ATPase family, AAA domain containing 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:97,984,754...98,027,379
Ensembl chr 7:97,984,862...98,026,052
JBrowse link
G Ccn3 cellular communication network factor 3 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:94,375,134...94,382,154
Ensembl chr 7:94,375,020...94,383,024
JBrowse link
G Col14a1 collagen type XIV alpha 1 chain ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:95,054,877...95,274,073
Ensembl chr 7:95,074,236...95,273,298
JBrowse link
G Colec10 collectin subfamily member 10 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:93,975,451...94,035,999
Ensembl chr 7:93,975,451...94,035,999
JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 9:74,113,437...74,236,274
Ensembl chr 9:74,124,016...74,236,274
JBrowse link
G Deptor DEP domain containing MTOR-interacting protein ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:94,795,161...95,000,750
Ensembl chr 7:94,795,214...94,995,809
JBrowse link
G Derl1 derlin 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:97,737,176...97,759,852
Ensembl chr 7:97,737,178...97,759,852
JBrowse link
G Dscc1 DNA replication and sister chromatid cohesion 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:94,759,076...94,774,787
Ensembl chr 7:94,758,800...94,774,569
JBrowse link
G Eif3h eukaryotic translation initiation factor 3, subunit H ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 6:10,151,732...10,236,677 JBrowse link
G Enpp2 ectonucleotide pyrophosphatase/phosphodiesterase 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:94,479,931...94,563,086
Ensembl chr 7:94,480,396...94,563,001
JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 9:75,021,790...76,178,936
Ensembl chr 9:75,021,790...75,528,644
JBrowse link
G Ext1 exostosin glycosyltransferase 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:92,605,008...92,881,392
Ensembl chr 7:92,605,728...92,882,068
JBrowse link
G Fam83a family with sequence similarity 83, member A ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:97,855,773...97,880,227
Ensembl chr 7:97,855,636...97,881,955
JBrowse link
G Fam91a1 family with sequence similarity 91, member A1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:98,302,803...98,341,201
Ensembl chr 7:98,302,953...98,342,367
JBrowse link
G Fbxo32 F-box protein 32 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:98,065,664...98,098,071
Ensembl chr 7:98,063,735...98,098,268
JBrowse link
G Fer1l6 fer-1-like family member 6 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:98,399,207...98,555,215
Ensembl chr 7:98,432,024...98,553,096
JBrowse link
G Has2 hyaluronan synthase 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:96,438,046...96,464,049
Ensembl chr 7:96,438,046...96,464,049
JBrowse link
G Ikzf2 IKAROS family zinc finger 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 9:76,621,230...76,771,017
Ensembl chr 9:76,621,230...76,768,806
JBrowse link
G Kansl1l KAT8 regulatory NSL complex subunit 1-like ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 9:73,710,959...73,819,335
Ensembl chr 9:73,713,430...73,799,427
JBrowse link
G Klhl38 kelch-like family member 38 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:98,187,954...98,197,163
Ensembl chr 7:98,186,764...98,197,114
JBrowse link
G Lancl1 LanC like 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 9:74,018,192...74,048,098
Ensembl chr 9:74,014,656...74,048,244
JBrowse link
G Lratd2 LRAT domain containing 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:101,138,188...101,142,123
Ensembl chr 7:101,139,376...101,140,308
JBrowse link
G Mal2 mal, T-cell differentiation protein 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:94,130,852...94,163,649
Ensembl chr 7:94,130,852...94,163,645
JBrowse link
G Map2 microtubule-associated protein 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 9:73,204,753...73,462,965
Ensembl chr 9:73,319,710...73,462,972
JBrowse link
G Med30 mediator complex subunit 30 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:92,234,584...92,260,019
Ensembl chr 7:92,234,597...92,256,100
JBrowse link
G Mrpl13 mitochondrial ribosomal protein L13 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:95,288,400...95,309,997
Ensembl chr 7:95,288,376...95,310,005
JBrowse link
G Mtbp MDM2 binding protein ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:95,309,928...95,392,418
Ensembl chr 7:95,309,928...95,387,680
JBrowse link
G Mtss1 MTSS I-BAR domain containing 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:98,820,799...98,960,878
Ensembl chr 7:98,820,812...98,960,837
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
JBrowse link
G Myl1 myosin, light chain 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 9:73,937,820...73,958,480
Ensembl chr 9:73,937,823...73,958,480
JBrowse link
G Ndufb9 NADH:ubiquinone oxidoreductase subunit B9 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:98,813,062...98,819,408
Ensembl chr 7:98,813,040...98,819,452
JBrowse link
G Nsmce2 NSE2/MMS21 homolog, SMC5-SMC6 complex SUMO ligase ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:99,677,295...99,900,765
Ensembl chr 7:99,677,290...99,900,764
JBrowse link
G Ntaq1 N-terminal glutamine amidase 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:97,957,022...97,977,158
Ensembl chr 7:97,957,003...97,994,586
JBrowse link
G Pvt1 Pvt1 oncogene ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:102,648,394...102,871,316 JBrowse link
G Rad21 RAD21 cohesin complex component ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:91,511,755...91,538,673
Ensembl chr 7:91,511,756...91,538,673
JBrowse link
G RGD1310852 similar to RIKEN cDNA 9130401M01 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:97,891,723...97,902,585
Ensembl chr 7:97,889,517...97,944,151
JBrowse link
G Rnf139 ring finger protein 139 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:98,770,840...98,782,025
Ensembl chr 7:98,770,840...98,782,025
JBrowse link
G Rpe ribulose-5-phosphate-3-epimerase ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 9:73,687,684...73,713,643
Ensembl chr 9:73,687,743...73,711,571
JBrowse link
G Samd12 sterile alpha motif domain containing 12 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:92,995,599...93,286,757
Ensembl chr 7:92,993,330...93,502,591
JBrowse link
G Slc30a8 solute carrier family 30 member 8 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:91,832,988...91,869,329
Ensembl chr 7:91,832,988...91,867,300
JBrowse link
G Sntb1 syntrophin, beta 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:95,395,417...95,670,093
Ensembl chr 7:95,397,113...95,669,809
JBrowse link
G Spag16 sperm associated antigen 16 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 9:77,027,626...77,833,476
Ensembl chr 9:77,320,726...77,833,281
JBrowse link
G Sqle squalene epoxidase ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:99,609,929...99,624,803
Ensembl chr 7:99,609,191...99,624,732
JBrowse link
G Taf2 TATA-box binding protein associated factor 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:94,698,987...94,755,924
Ensembl chr 7:94,698,987...94,755,924
JBrowse link
G Tatdn1 TatD DNase domain containing 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:98,782,164...98,813,001
Ensembl chr 7:98,782,178...98,804,499
JBrowse link
G Tbc1d31 TBC1 domain family, member 31 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:97,778,260...97,839,668
Ensembl chr 7:97,760,134...97,839,668
JBrowse link
G Tmem65 transmembrane protein 65 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:98,668,589...98,709,613
Ensembl chr 7:98,605,722...98,709,649
JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:93,798,580...93,826,586
Ensembl chr 7:93,798,545...93,826,665
JBrowse link
G Trib1 tribbles pseudokinase 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:99,954,492...99,961,026
Ensembl chr 7:99,954,492...99,961,026
JBrowse link
G Trmt12 tRNA methyltransferase 12 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:98,748,547...98,750,173
Ensembl chr 7:98,748,547...98,750,171
JBrowse link
G Trps1 transcriptional repressor GATA binding 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I
ClinVar Annotator: match by term: Trichorhinophalangeal Syndrome Type I
ClinVar Annotator: match by OMIM:190350
OMIM
ClinVar
PMID:10615131, PMID:11112658, PMID:11359471, PMID:11807863, PMID:11950061, PMID:14560312, PMID:18946009, PMID:22964620, PMID:23451857, PMID:24502542, PMID:25741868, PMID:25792522, PMID:26380986, PMID:27826100, PMID:28050602, PMID:28170084, PMID:28468609, PMID:28492532, PMID:30541476 NCBI chr 7:90,085,895...90,320,430
Ensembl chr 7:90,090,828...90,318,221
JBrowse link
G Unc80 unc-80 homolog, NALCN channel complex subunit ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 9:73,492,907...73,686,578
Ensembl chr 9:73,493,027...73,683,000
JBrowse link
G Utp23 UTP23, small subunit processome component ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:91,384,329...91,389,605
Ensembl chr 7:91,384,187...91,389,598
JBrowse link
G Washc5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:99,625,379...99,677,237
Ensembl chr 7:99,625,619...99,677,268
JBrowse link
G Zhx1 zinc fingers and homeoboxes 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:97,915,280...97,944,787
Ensembl chr 7:97,915,581...97,944,491
JBrowse link
G Zhx2 zinc fingers and homeoboxes 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:97,559,653...97,707,872
Ensembl chr 7:97,559,841...97,695,739
JBrowse link
trichorhinophalangeal syndrome type II term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ext1 exostosin glycosyltransferase 1 ISO ClinVar Annotator: match by term: Langer-Giedion syndrome ClinVar
OMIM
PMID:17301954, PMID:24728327 NCBI chr 7:92,605,008...92,881,392
Ensembl chr 7:92,605,728...92,882,068
JBrowse link
G Trps1 transcriptional repressor GATA binding 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Langer-Giedion syndrome
CTD
ClinVar
PMID:11112658, PMID:11708946, PMID:22964620, PMID:23451857, PMID:25741868, PMID:25792522, PMID:28050602, PMID:28492532 NCBI chr 7:90,085,895...90,320,430
Ensembl chr 7:90,090,828...90,318,221
JBrowse link
trichorhinophalangeal syndrome type III term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trps1 transcriptional repressor GATA binding 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III
ClinVar Annotator: match by term: Trichorhinophalangeal syndrome type 3
ClinVar Annotator: match by term: TRICHORHINOPHALANGEAL SYNDROME, TYPE III
ClinVar Annotator: match by OMIM:190351
OMIM
ClinVar
PMID:11112658, PMID:11807863, PMID:11950061, PMID:14560312, PMID:18946009, PMID:19694891, PMID:21850686, PMID:22964620, PMID:23451857, PMID:24502542, PMID:25741868, PMID:25792522, PMID:26113321, PMID:27826100, PMID:28050602, PMID:28170084, PMID:28468609, PMID:28492532, PMID:30541476 NCBI chr 7:90,085,895...90,320,430
Ensembl chr 7:90,090,828...90,318,221
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Trichorhinophalangeal Syndrome 59
        trichorhinophalangeal syndrome type I 59
        trichorhinophalangeal syndrome type II 2
        trichorhinophalangeal syndrome type III 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      musculoskeletal system disease 5739
        connective tissue disease 4099
          bone disease 3528
            bone development disease 1335
              osteochondrodysplasia 445
                Trichorhinophalangeal Syndrome 59
                  trichorhinophalangeal syndrome type I 59
                  trichorhinophalangeal syndrome type II 2
                  trichorhinophalangeal syndrome type III 1
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.