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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:Carpenter syndrome
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Accession:DOID:0060234 term browser browse the term
Definition:An acrocephalosyndactylia characterized by craniosynostosis, acrocephaly, obesity, syndactyly and polydactyly. (DO)
Synonyms:exact_synonym: ACPS 2;   ACPS II;   acrocephalopolysyndactyly type 2;   acrocephalopolysyndactyly type II
 primary_id: MESH:C563187
 xref: GARD:6003;   NCI:C98873;   OMIM:PS201000;   ORDO:65759

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show annotations for term's descendants           Sort by:
Carpenter syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bag2 BAG cochaperone 2 ISO ClinVar Annotator: match by term: Acrocephalopolysyndactyly Type II | ClinVar Annotator: match by term: Carpenter syndrome ClinVar NCBI chrNW_004936476:4,131,159...4,142,357
Ensembl chrNW_004936476:4,129,013...4,142,357 		JBrowse link
G Megf8 multiple EGF like domains 8 ISO ClinVar Annotator: match by term: Carpenter syndrome ClinVar NCBI chrNW_004936706:157,167...198,071
Ensembl chrNW_004936706:157,019...197,500 		JBrowse link
G Rab23 RAB23, member RAS oncogene family ISO ClinVar Annotator: match by term: ACPS 2 | ClinVar Annotator: match by term: Acrocephalopolysyndactyly Type II | ClinVar Annotator: match by term: Carpenter syndrome ClinVar PMID:9536098 PMID:16199547 PMID:17503333 PMID:17576681 PMID:20358613 More... NCBI chrNW_004936476:4,095,829...4,127,714
Ensembl chrNW_004936476:4,095,329...4,127,701 		JBrowse link
Carpenter Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bag2 BAG cochaperone 2 ISO ClinVar Annotator: match by term: Carpenter syndrome 1 ClinVar NCBI chrNW_004936476:4,131,159...4,142,357
Ensembl chrNW_004936476:4,129,013...4,142,357 		JBrowse link
G Rab23 RAB23, member RAS oncogene family ISO ClinVar Annotator: match by term: Carpenter syndrome 1 | ClinVar Annotator: match by term: RAB23-related condition OMIM
ClinVar		 PMID:17503333 PMID:20358613 PMID:21412941 PMID:23599695 PMID:24458945 More... NCBI chrNW_004936476:4,095,829...4,127,714
Ensembl chrNW_004936476:4,095,329...4,127,701 		JBrowse link
Carpenter Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actmap actin maturation protease ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:3,024,581...3,029,867
Ensembl chrNW_004936661:3,024,984...3,029,158 		JBrowse link
G Akt2 AKT serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:2,652,568...2,694,039
Ensembl chrNW_004936661:2,652,566...2,694,086 		JBrowse link
G Arhgef1 Rho guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936706:540,987...558,792
Ensembl chrNW_004936706:540,748...558,823 		JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936706:476,473...494,659
Ensembl chrNW_004936706:477,107...495,525 		JBrowse link
G Axl AXL receptor tyrosine kinase ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:3,658,140...3,687,290
Ensembl chrNW_004936661:3,657,831...3,687,816 		JBrowse link
G B3gnt8 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:3,817,791...3,819,854
Ensembl chrNW_004936661:3,818,120...3,819,307 		JBrowse link
G B9d2 B9 domain containing 2 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:3,759,031...3,765,361
Ensembl chrNW_004936661:3,758,909...3,765,513 		JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:3,799,998...3,817,560
Ensembl chrNW_004936661:3,799,955...3,819,851 		JBrowse link
G Blvrb biliverdin reductase B ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:2,808,998...2,818,123
Ensembl chrNW_004936661:2,808,950...2,818,178 		JBrowse link
G Ccdc97 coiled-coil domain containing 97 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:3,724,943...3,736,936
Ensembl chrNW_004936661:3,725,591...3,736,877 		JBrowse link
G Ccnp cyclin P ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:2,643,546...2,648,600 JBrowse link
G Cd79a CD79a molecule ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936706:561,195...564,577
Ensembl chrNW_004936706:561,140...564,661 		JBrowse link
G Cic capicua transcriptional repressor ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936706:216,394...243,361
Ensembl chrNW_004936706:212,833...242,756 		JBrowse link
G Cnfn cornifelin ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936706:149,643...151,088
Ensembl chrNW_004936706:149,643...151,088 		JBrowse link
G Coq8b coenzyme Q8B ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:2,989,164...3,008,955
Ensembl chrNW_004936661:2,989,162...3,006,289 		JBrowse link
G CUNH19orf47 chromosome unknown C19orf47 homolog ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:2,719,382...2,741,373
Ensembl chrNW_004936661:2,719,387...2,741,373 		JBrowse link
G Dedd2 death effector domain containing 2 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936706:285,874...302,910
Ensembl chrNW_004936706:285,820...305,869 		JBrowse link
G Dll3 delta like canonical Notch ligand 3 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:2,322,531...2,330,150
Ensembl chrNW_004936661:2,322,531...2,329,953 		JBrowse link
G Dmac2 distal membrane arm assembly component 2 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:3,824,379...3,826,411 JBrowse link
G Dmrtc2 DMRT like family C2 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936706:582,541...586,735
Ensembl chrNW_004936706:582,541...586,715 		JBrowse link
G Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:2,436,702...2,444,758
Ensembl chrNW_004936661:2,433,483...2,444,752 		JBrowse link
G Egln2 egl-9 family hypoxia inducible factor 2 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:3,061,391...3,070,219
Ensembl chrNW_004936661:3,061,308...3,070,192 		JBrowse link
G Eid2 EP300 interacting inhibitor of differentiation 2 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:2,364,179...2,366,739
Ensembl chrNW_004936661:2,365,861...2,366,586 		JBrowse link
G Eid2b EP300 interacting inhibitor of differentiation 2B ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:2,352,726...2,354,968
Ensembl chrNW_004936661:2,354,497...2,354,966 		JBrowse link
G Erf ETS2 repressor factor ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936706:255,479...263,154
Ensembl chrNW_004936706:255,407...263,179 		JBrowse link
G Erich4 glutamate rich 4 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:3,829,881...3,834,379
Ensembl chrNW_004936661:3,829,577...3,834,487 		JBrowse link
G Exosc5 exosome component 5 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:3,790,283...3,799,602
Ensembl chrNW_004936661:3,790,302...3,799,660 		JBrowse link
G Fbl fibrillarin ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:2,444,985...2,455,423
Ensembl chrNW_004936661:2,444,866...2,455,528 		JBrowse link
G Fcgbp Fc gamma binding protein ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:2,458,960...2,494,793 JBrowse link
G Grik5 glutamate ionotropic receptor kainate type subunit 5 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936706:410,806...469,000
Ensembl chrNW_004936706:410,938...464,714 		JBrowse link
G Gsk3a glycogen synthase kinase 3 alpha ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936706:266,462...277,256
Ensembl chrNW_004936706:269,126...277,256 		JBrowse link
G Hipk4 homeodomain interacting protein kinase 4 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:2,764,661...2,770,110
Ensembl chrNW_004936661:2,764,661...2,770,110 		JBrowse link
G Hnrnpul1 heterogeneous nuclear ribonucleoprotein U like 1 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:3,688,328...3,723,405
Ensembl chrNW_004936661:3,690,137...3,723,391 		JBrowse link
G Itpkc inositol-trisphosphate 3-kinase C ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:3,006,506...3,023,355
Ensembl chrNW_004936661:3,006,505...3,022,823 		JBrowse link
G Leutx leucine twenty homeobox ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:2,399,154...2,406,044 JBrowse link
G Lipe lipase E, hormone sensitive type ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936706:122,939...139,506
Ensembl chrNW_004936706:128,133...141,276 		JBrowse link
G Ltbp4 latent transforming growth factor beta binding protein 4 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:2,919,444...2,945,847
Ensembl chrNW_004936661:2,919,550...2,945,599 		JBrowse link
G Lypd4 LY6/PLAUR domain containing 4 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936706:591,128...593,307 JBrowse link
G Map3k10 mitogen-activated protein kinase kinase kinase 10 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:2,623,356...2,638,218 JBrowse link
G Megf8 multiple EGF like domains 8 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23063620 PMID:25326635 More... NCBI chrNW_004936706:157,167...198,071
Ensembl chrNW_004936706:157,019...197,500 		JBrowse link
G Mia MIA SH3 domain containing ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:3,047,735...3,049,050
Ensembl chrNW_004936661:3,047,747...3,049,064 		JBrowse link
G Numbl NUMB like endocytic adaptor protein ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:2,962,741...2,984,763
Ensembl chrNW_004936661:2,963,510...2,984,740 		JBrowse link
G Pafah1b3 platelet activating factor acetylhydrolase 1b catalytic subunit 3 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936706:212,635...215,498
Ensembl chrNW_004936706:212,096...215,497 		JBrowse link
G Pld3 phospholipase D family member 3 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:2,741,523...2,763,945
Ensembl chrNW_004936661:2,741,234...2,767,121 		JBrowse link
G Plekhg2 pleckstrin homology and RhoGEF domain containing G2 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:2,257,097...2,268,301
Ensembl chrNW_004936661:2,257,068...2,268,716 		JBrowse link
G Pou2f2 POU class 2 homeobox 2 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936706:335,613...393,854
Ensembl chrNW_004936706:320,539...392,414 		JBrowse link
G Prr19 proline rich 19 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936706:209,013...210,326
Ensembl chrNW_004936706:209,083...210,247 		JBrowse link
G Prx periaxin ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:2,772,446...2,783,120
Ensembl chrNW_004936661:2,772,621...2,787,647 		JBrowse link
G Psmc4 proteasome 26S subunit, ATPase 4 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:2,522,665...2,528,279
Ensembl chrNW_004936661:2,522,615...2,528,284 		JBrowse link
G Rab4b RAB4B, member RAS oncogene family ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:3,049,802...3,059,921
Ensembl chrNW_004936661:3,049,638...3,059,963 		JBrowse link
G Rabac1 Rab acceptor 1 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936706:498,271...500,847
Ensembl chrNW_004936706:497,963...500,842 		JBrowse link
G Rps16 ribosomal protein S16 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:2,271,747...2,274,769
Ensembl chrNW_004936661:2,271,396...2,274,965 		JBrowse link
G Rps19 ribosomal protein S19 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936706:568,443...575,973
Ensembl chrNW_004936706:568,364...575,126 		JBrowse link
G Selenov selenoprotein V ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:2,335,170...2,338,422 JBrowse link
G Sertad1 SERTA domain containing 1 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:2,792,501...2,793,901
Ensembl chrNW_004936661:2,792,850...2,793,590 		JBrowse link
G Sertad3 SERTA domain containing 3 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:2,801,975...2,806,095 JBrowse link
G Shkbp1 SH3KBP1 binding protein 1 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:2,903,986...2,915,908
Ensembl chrNW_004936661:2,903,938...2,915,910 		JBrowse link
G Snrpa small nuclear ribonucleoprotein polypeptide A ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:3,030,104...3,041,877
Ensembl chrNW_004936661:3,029,802...3,041,877 		JBrowse link
G Sptbn4 spectrin beta, non-erythrocytic 4 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:2,831,132...2,903,619
Ensembl chrNW_004936661:2,827,572...2,903,655 		JBrowse link
G Supt5h SPT5 homolog, DSIF elongation factor subunit ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:2,280,390...2,308,085
Ensembl chrNW_004936661:2,280,285...2,308,780 		JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:3,742,080...3,758,266
Ensembl chrNW_004936661:3,742,066...3,758,272 		JBrowse link
G Timm50 translocase of inner mitochondrial membrane 50 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:2,310,169...2,318,035
Ensembl chrNW_004936661:2,310,125...2,318,258 		JBrowse link
G Tmem145 transmembrane protein 145 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936706:198,105...206,794
Ensembl chrNW_004936706:198,339...206,739 		JBrowse link
G Tmem91 transmembrane protein 91 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:3,784,545...3,788,434
Ensembl chrNW_004936661:3,783,709...3,788,244 		JBrowse link
G Ttc9b tetratricopeptide repeat domain 9B ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:2,638,394...2,640,785
Ensembl chrNW_004936661:2,637,189...2,640,725 		JBrowse link
G Znf526 zinc finger protein 526 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936706:278,730...284,232
Ensembl chrNW_004936706:280,075...282,078 		JBrowse link
G Znf546 zinc finger protein 546 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936661:2,545,011...2,564,695
Ensembl chrNW_004936661:2,544,960...2,567,691 		JBrowse link
G Znf574 zinc finger protein 574 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004936706:401,188...406,481
Ensembl chrNW_004936706:401,447...404,140 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    syndrome 9489
      Carpenter syndrome 70
        Carpenter Syndrome 1 2
        Carpenter Syndrome 2 68
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14116
      Skin and Connective Tissue Diseases 6452
        connective tissue disease 5008
          bone disease 3672
            bone development disease 2181
              dysostosis 542
                synostosis 353
                  syndactyly 137
                    acrocephalosyndactylia 80
                      Carpenter syndrome 70
                        Carpenter Syndrome 1 2
                        Carpenter Syndrome 2 68
paths to the root