Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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 type I
go back to main search page
Accession:DOID:14743 term browser browse the term
Definition:A syndrome 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 dysplasia type I;   trichorhinophalangeal syndrome type 1
 primary_id: MESH:C536820
 alt_id: OMIM:190350
 xref: NCI:C75109
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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 7:83,364,478...83,369,319
Ensembl chr 7:83,364,204...83,369,317 		JBrowse link
G Acadl acyl-CoA dehydrogenase, long chain ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 9:68,333,981...68,372,149
Ensembl chr 9:68,333,980...68,372,220 		JBrowse link
G Anxa13 annexin A13 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:89,884,356...89,936,907
Ensembl chr 7:89,884,356...89,936,907 		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 7:89,634,123...89,676,738
Ensembl chr 7:89,634,123...89,676,738 		JBrowse link
G C7h8orf76 similar to human chromosome 8 open reading frame 76 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:89,558,890...89,569,810
Ensembl chr 7:89,558,909...89,569,810 		JBrowse link
G Ccn3 cellular communication network factor 3 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:86,094,000...86,101,022
Ensembl chr 7:86,094,000...86,101,019 		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 7:86,722,093...86,937,215
Ensembl chr 7:86,722,094...86,937,214 		JBrowse link
G Colec10 collectin subfamily member 10 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:85,744,895...85,806,368
Ensembl chr 7:85,744,895...85,805,675 		JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033 		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 7:86,514,859...86,668,817
Ensembl chr 7:86,514,988...86,667,773 		JBrowse link
G Derl1 derlin 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:89,404,413...89,427,095
Ensembl chr 7:89,404,417...89,427,145 		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 7:86,482,588...86,498,212
Ensembl chr 7:86,482,588...86,498,212 		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 7:83,091,037...83,174,451
Ensembl chr 7:83,091,039...83,174,451 		JBrowse link
G Enpp2 ectonucleotide pyrophosphatase/phosphodiesterase 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:86,202,345...86,325,050
Ensembl chr 7:86,202,350...86,324,827 		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 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595 		JBrowse link
G Ext1 exostosin glycosyltransferase 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:84,375,769...84,654,625
Ensembl chr 7:84,375,784...84,655,357 		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 7:89,522,826...89,547,284
Ensembl chr 7:89,522,826...89,547,388 		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 7:89,969,558...90,007,546
Ensembl chr 7:89,969,605...90,007,556 		JBrowse link
G Fbxo32 F-box protein 32 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:89,731,428...89,764,997
Ensembl chr 7:89,730,232...89,765,436 		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 7:90,093,567...90,216,907
Ensembl chr 7:90,061,924...90,215,214 		JBrowse link
G Has2 hyaluronan synthase 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:88,113,326...88,139,337
Ensembl chr 7:88,113,326...88,128,933 		JBrowse link
G Ikzf2 IKAROS family zinc finger 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 9:71,046,038...71,191,296
Ensembl chr 9:71,042,440...71,190,867 		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 9:68,211,151...68,316,992
Ensembl chr 9:68,211,189...68,300,222 		JBrowse link
G Klhl38 kelch-like family member 38 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:89,854,015...89,864,352
Ensembl chr 7:89,855,148...89,864,276 		JBrowse link
G Lancl1 LanC like glutathione S-transferase 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 9:68,515,052...68,548,646
Ensembl chr 9:68,518,574...68,548,628 		JBrowse link
G Lratd2 LRAT domain containing 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:92,376,713...92,387,045
Ensembl chr 7:92,362,194...92,388,189 		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 7:85,900,453...85,933,433
Ensembl chr 7:85,900,453...85,933,429 		JBrowse link
G Map2 microtubule-associated protein 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 9:67,723,422...67,981,886
Ensembl chr 9:67,723,371...67,979,809 		JBrowse link
G Med30 mediator complex subunit 30 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:84,004,735...84,026,474
Ensembl chr 7:84,004,722...84,026,595 		JBrowse link
G Mrpl13 mitochondrial ribosomal protein L13 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:86,951,541...86,973,147
Ensembl chr 7:86,951,541...86,973,577 		JBrowse link
G Mtbp MDM2 binding protein ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:86,973,215...87,055,775
Ensembl chr 7:86,973,069...87,050,827 		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 7:90,488,751...90,628,007
Ensembl chr 7:90,488,754...90,627,968 		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 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630 		JBrowse link
G Myl1 myosin, light chain 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 9:68,437,514...68,458,256
Ensembl chr 9:68,437,517...68,458,261 		JBrowse link
G Ndufb9 NADH:ubiquinone oxidoreductase subunit B9 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:90,480,948...90,487,367
Ensembl chr 7:90,436,621...90,488,009 		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 7:90,936,112...91,173,435
Ensembl chr 7:90,936,112...91,164,899 		JBrowse link
G Ntaq1 N-terminal glutamine amidase 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:89,684,318...89,704,484
Ensembl chr 7:89,684,323...89,704,474 		JBrowse link
G Pvt1 Pvt1 oncogene ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:93,656,528...93,879,938 JBrowse link
G Rad21 RAD21 cohesin complex component ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:83,287,867...83,314,810
Ensembl chr 7:83,287,870...83,314,817 		JBrowse link
G Rnf139 ring finger protein 139 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:90,439,726...90,450,911
Ensembl chr 7:90,436,621...90,488,009 		JBrowse link
G Rpe ribulose-5-phosphate-3-epimerase ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 9:68,191,027...68,211,295
Ensembl chr 9:68,191,292...68,211,591 		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 7:84,768,850...85,064,057
Ensembl chr 7:84,768,254...85,271,766 		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 7:83,591,993...83,627,786
Ensembl chr 7:83,591,993...83,626,305 		JBrowse link
G Sntb1 syntrophin, beta 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:87,060,926...87,329,315
Ensembl chr 7:87,060,926...87,329,315 		JBrowse link
G Spag16 sperm associated antigen 16 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 9:71,333,005...72,252,772
Ensembl chr 9:71,332,992...72,252,708 		JBrowse link
G Sqle squalene epoxidase ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:90,867,973...90,883,623
Ensembl chr 7:90,868,011...90,883,618 		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 7:86,422,613...86,479,616
Ensembl chr 7:86,422,613...86,479,616 		JBrowse link
G Tatdn1 TatD DNase domain containing 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:90,449,979...90,481,000
Ensembl chr 7:90,441,079...90,481,133 		JBrowse link
G Tbc1d31 TBC1 domain family, member 31 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:89,427,354...89,506,894
Ensembl chr 7:89,426,780...89,506,894 		JBrowse link
G Tmem65 transmembrane protein 65 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:90,336,997...90,378,930
Ensembl chr 7:90,274,142...90,379,474 		JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538 		JBrowse link
G Trib1 tribbles pseudokinase 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:91,206,579...91,213,126
Ensembl chr 7:91,206,579...91,214,731 		JBrowse link
G Trmt12 tRNA methyltransferase 12 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:90,417,846...90,419,472
Ensembl chr 7:90,417,862...90,419,867 		JBrowse link
G Trps1 transcriptional repressor GATA binding 1 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:190350
ClinVar Annotator: match by term: Trichorhinophalangeal Syndrome Type I | ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I		 OMIM
CTD
MouseDO
ClinVar		 PMID:10615131 PMID:11112658 PMID:11359471 PMID:11807863 PMID:11950061 More... NCBI chr 7:81,916,668...82,142,733
Ensembl chr 7:81,921,601...82,141,905 		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 9:68,011,940...68,190,135
Ensembl chr 9:68,011,728...68,187,659 		JBrowse link
G Utp23 UTP23, small subunit processome component ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:83,185,187...83,196,652
Ensembl chr 7:83,189,656...83,196,655 		JBrowse link
G Washc5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:90,884,192...90,936,096
Ensembl chr 7:90,884,197...90,936,103 		JBrowse link
G Zhx1 zinc fingers and homeoboxes 1 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:89,582,363...89,611,337
Ensembl chr 7:89,582,243...89,611,264 		JBrowse link
G Zhx2 zinc fingers and homeoboxes 2 ISO ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I ClinVar PMID:25741868 NCBI chr 7:89,226,358...89,374,266
Ensembl chr 7:89,226,463...89,374,378 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      Trichorhinophalangeal Syndrome 59
        trichorhinophalangeal syndrome type I 59
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      Skin and Connective Tissue Diseases 7431
        connective tissue disease 5757
          bone disease 4270
            bone development disease 2304
              osteochondrodysplasia 860
                Trichorhinophalangeal Syndrome 59
                  trichorhinophalangeal syndrome type I 59
paths to the root