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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:short-rib thoracic dysplasia 10 with or without polydactyly
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Accession:DOID:0110091 term browser browse the term
Definition:An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23. (DO)
Synonyms:exact_synonym: SRTD10
 narrow_synonym: SHORT-RIB THORACIC DYSPLASIA 10 WITHOUT POLYDACTYLY;   short-rib thoracic dysplasia 10 with polydactyly
 primary_id: OMIM:615630
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
short-rib thoracic dysplasia 10 with or without polydactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abhd1 abhydrolase domain containing 1 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly ClinVar PMID:28492532 NCBI chr 6:25,422,526...25,427,514
Ensembl chr 6:25,422,526...25,427,514
JBrowse link
G Adcy3 adenylate cyclase 3 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly ClinVar PMID:28492532 NCBI chr 6:27,100,089...27,203,686
Ensembl chr 6:27,124,828...27,203,686
JBrowse link
G Adgrf3 adhesion G protein-coupled receptor F3 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly ClinVar PMID:28492532 NCBI chr 6:26,133,097...26,144,656
Ensembl chr 6:26,133,192...26,144,601
JBrowse link
G Agbl5 AGBL carboxypeptidase 5 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly ClinVar PMID:28492532 NCBI chr 6:25,472,333...25,492,173
Ensembl chr 6:25,472,333...25,490,738
JBrowse link
G Asxl2 ASXL transcriptional regulator 2 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly ClinVar PMID:28492532 NCBI chr 6:26,425,017...26,514,899
Ensembl chr 6:26,425,954...26,507,477
JBrowse link
G Atraid all-trans retinoic acid-induced differentiation factor ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly ClinVar PMID:28492532 NCBI chr 6:25,315,236...25,319,804 JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly ClinVar PMID:28492532 NCBI chr 6:25,292,133...25,315,176
Ensembl chr 6:25,292,133...25,319,861
JBrowse link
G Cenpa centromere protein A ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly ClinVar PMID:28492532 NCBI chr 6:25,700,142...25,711,767
Ensembl chr 6:25,700,142...25,711,675
JBrowse link
G Cenpo centromere protein O ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly ClinVar PMID:28492532 NCBI chr 6:27,203,642...27,218,394
Ensembl chr 6:27,188,537...27,218,314
JBrowse link
G Cgref1 cell growth regulator with EF hand domain 1 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly ClinVar PMID:28492532 NCBI chr 6:25,431,846...25,443,853
Ensembl chr 6:25,431,799...25,443,852
JBrowse link
G Cib4 calcium and integrin binding family member 4 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly ClinVar PMID:28492532 NCBI chr 6:25,842,605...25,903,509
Ensembl chr 6:25,842,622...25,917,206
JBrowse link
G Dnajc27 DnaJ heat shock protein family (Hsp40) member C27 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly ClinVar PMID:28492532 NCBI chr 6:27,068,713...27,098,449
Ensembl chr 6:27,068,686...27,098,449
JBrowse link
G Dnajc5g DnaJ heat shock protein family (Hsp40) member C5 gamma ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly ClinVar PMID:28492532 NCBI chr 6:25,260,087...25,264,251
Ensembl chr 6:25,260,088...25,264,152
JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly ClinVar PMID:28492532 NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687
JBrowse link
G Dpysl5 dihydropyrimidinase-like 5 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly ClinVar PMID:28492532 NCBI chr 6:25,575,104...25,659,422
Ensembl chr 6:25,575,104...25,659,422
JBrowse link
G Drc1 dynein regulatory complex subunit 1 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly ClinVar PMID:28492532 NCBI chr 6:26,025,004...26,059,438
Ensembl chr 6:26,025,005...26,059,414
JBrowse link
G Dtnb dystrobrevin, beta ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly ClinVar PMID:28492532 NCBI chr 6:26,566,418...26,763,467
Ensembl chr 6:26,566,925...26,766,335
JBrowse link
G Efr3b EFR3 homolog B ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly ClinVar PMID:28492532 NCBI chr 6:26,947,436...27,021,113
Ensembl chr 6:26,948,540...27,020,933
JBrowse link
G Eif2b4 eukaryotic translation initiation factor 2B subunit delta ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly ClinVar PMID:28492532 NCBI chr 6:25,183,177...25,188,832
Ensembl chr 6:25,183,186...25,188,829
JBrowse link
G Emilin1 elastin microfibril interfacer 1 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly ClinVar PMID:28492532 NCBI chr 6:25,455,974...25,463,736
Ensembl chr 6:25,445,298...25,463,698
JBrowse link
G Fam166c family with sequence similarity 166 member C ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly ClinVar PMID:28492532 NCBI chr 6:25,905,294...25,923,615
Ensembl chr 6:25,905,294...25,923,615
JBrowse link
G Fndc4 fibronectin type III domain containing 4 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly ClinVar PMID:28492532 NCBI chr 6:25,077,155...25,080,812
Ensembl chr 6:25,077,349...25,080,675
JBrowse link
G Garem2 GRB2 associated regulator of MAPK1 subtype 2 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly ClinVar PMID:28492532 NCBI chr 6:26,228,965...26,255,576
Ensembl chr 6:26,230,048...26,241,762
JBrowse link
G Gckr glucokinase regulator ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly ClinVar PMID:28492532 NCBI chr 6:25,044,592...25,075,834
Ensembl chr 6:25,045,100...25,075,654
JBrowse link
G Gtf3c2 general transcription factor IIIC subunit 2 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly ClinVar PMID:28492532 NCBI chr 6:25,196,439...25,221,338
Ensembl chr 6:25,197,268...25,220,490
JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly ClinVar PMID:28492532 NCBI chr 6:26,187,969...26,227,605
Ensembl chr 6:26,187,956...26,227,869
JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly ClinVar PMID:28492532 NCBI chr 6:26,153,572...26,187,668
Ensembl chr 6:26,153,578...26,184,869
JBrowse link
G Ift172 intraflagellar transport 172 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with polydactyly | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 without polydactyly OMIM
ClinVar
PMID:9536098 PMID:11030072 PMID:16199547 PMID:17576681 PMID:24033266 More... NCBI chr 6:25,081,933...25,121,271
Ensembl chr 6:25,081,980...25,120,860
JBrowse link
G Itsn2 intersectin 2 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly ClinVar PMID:28492532 NCBI chr 6:27,616,645...27,727,373
Ensembl chr 6:27,600,406...27,727,124
JBrowse link
G Kcnk3 potassium two pore domain channel subfamily K member 3 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly ClinVar PMID:28492532 NCBI chr 6:25,761,487...25,799,153
Ensembl chr 6:25,763,228...25,799,153
JBrowse link
G Khk ketohexokinase ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly ClinVar PMID:28492532 NCBI chr 6:25,445,298...25,455,834
Ensembl chr 6:25,445,300...25,455,717
JBrowse link
G Kif3c kinesin family member 3C ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly ClinVar PMID:28492532 NCBI chr 6:26,367,092...26,406,033
Ensembl chr 6:26,366,531...26,406,130
JBrowse link
G Krtcap3 keratinocyte associated protein 3 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly ClinVar PMID:9536098 PMID:11030072 PMID:16199547 PMID:17576681 PMID:24140113 More... NCBI chr 6:25,120,938...25,122,522
Ensembl chr 6:25,120,938...25,122,507
JBrowse link
G Mapre3 microtubule-associated protein, RP/EB family, member 3 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly ClinVar PMID:28492532 NCBI chr 6:25,513,800...25,558,876
Ensembl chr 6:25,513,800...25,558,881
JBrowse link
G Mpv17 mitochondrial inner membrane protein MPV17 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly ClinVar PMID:28492532 NCBI chr 6:25,221,668...25,236,241
Ensembl chr 6:25,222,896...25,236,244
JBrowse link
G Ncoa1 nuclear receptor coactivator 1 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly ClinVar PMID:28492532 NCBI chr 6:27,232,609...27,507,992
Ensembl chr 6:27,232,611...27,475,664
JBrowse link
G Nrbp1 nuclear receptor binding protein 1 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly ClinVar PMID:28492532 NCBI chr 6:25,122,635...25,133,209
Ensembl chr 6:25,122,635...25,133,182
JBrowse link
G Ost4 oligosaccharyltransferase complex subunit 4, non-catalytic ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly ClinVar PMID:28492532 NCBI chr 6:25,471,254...25,472,478 JBrowse link
G Otof otoferlin ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly ClinVar PMID:28492532 NCBI chr 6:25,928,018...26,024,631
Ensembl chr 6:25,928,055...26,024,631
JBrowse link
G Pomc proopiomelanocortin ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly ClinVar PMID:28492532 NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
JBrowse link
G Ppm1g protein phosphatase, Mg2+/Mn2+ dependent, 1G ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly ClinVar PMID:28492532 NCBI chr 6:25,153,556...25,173,763
Ensembl chr 6:25,153,556...25,173,761
JBrowse link
G Preb prolactin regulatory element binding ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly ClinVar PMID:28492532 NCBI chr 6:25,418,805...25,422,594
Ensembl chr 6:25,418,776...25,422,590
JBrowse link
G Prr30 proline rich 30 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly ClinVar PMID:28492532 NCBI chr 6:25,415,069...25,417,582
Ensembl chr 6:25,414,868...25,417,585
JBrowse link
G Ptrhd1 peptidyl-tRNA hydrolase domain containing 1 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly ClinVar PMID:28492532 NCBI chr 6:27,218,417...27,221,805
Ensembl chr 6:27,218,417...27,221,805
JBrowse link
G Rab10 RAB10, member RAS oncogene family ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly ClinVar PMID:28492532 NCBI chr 6:26,267,081...26,319,739
Ensembl chr 6:26,266,859...26,320,193
JBrowse link
G Selenoi selenoprotein I ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly ClinVar PMID:28492532 NCBI chr 6:26,073,127...26,111,326
Ensembl chr 6:26,072,648...26,111,314
JBrowse link
G Slc30a3 solute carrier family 30 member 3 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly ClinVar PMID:28492532 NCBI chr 6:25,264,310...25,284,720
Ensembl chr 6:25,275,528...25,284,720
JBrowse link
G Slc35f6 solute carrier family 35, member F6 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly ClinVar PMID:28492532 NCBI chr 6:25,725,822...25,737,720
Ensembl chr 6:25,725,819...25,737,730
JBrowse link
G Slc5a6 solute carrier family 5 member 6 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly ClinVar PMID:28492532 NCBI chr 6:25,319,187...25,331,713
Ensembl chr 6:25,320,442...25,331,712
JBrowse link
G Snx17 sorting nexin 17 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly ClinVar PMID:28492532 NCBI chr 6:25,177,528...25,183,001
Ensembl chr 6:25,177,391...25,183,030
JBrowse link
G Tcf23 transcription factor 23 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly ClinVar PMID:28492532 NCBI chr 6:25,397,889...25,406,639
Ensembl chr 6:25,397,937...25,405,880
JBrowse link
G Tmem214 transmembrane protein 214 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly ClinVar PMID:28492532 NCBI chr 6:25,501,575...25,510,444
Ensembl chr 6:25,502,698...25,510,444
JBrowse link
G Trim54 tripartite motif-containing 54 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly ClinVar PMID:28492532 NCBI chr 6:25,239,340...25,258,511
Ensembl chr 6:25,239,340...25,258,511
JBrowse link
G Ucn urocortin ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly ClinVar PMID:28492532 NCBI chr 6:25,238,120...25,238,950
Ensembl chr 6:25,238,120...25,238,950
JBrowse link
G Zfp513 zinc finger protein 513 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly ClinVar PMID:28492532 NCBI chr 6:25,174,178...25,177,442
Ensembl chr 6:25,174,178...25,177,439
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    syndrome 9705
      asphyxiating thoracic dystrophy 124
        short-rib thoracic dysplasia 10 with or without polydactyly 55
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      musculoskeletal system disease 7230
        connective tissue disease 5120
          bone disease 3800
            bone development disease 1875
              osteochondrodysplasia 614
                asphyxiating thoracic dystrophy 124
                  short-rib thoracic dysplasia 10 with or without polydactyly 55
paths to the root