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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:acrocephalosyndactylia
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Accession:DOID:12960 term browser browse the term
Definition:A synostosis that results_in craniosynostosis and syndactyly. (DO)
Synonyms:exact_synonym: ACS1;   Acrocephalosyndactylies, Type 1;   Acrocephalosyndactyly (Apert);   Acrocephalosyndactyly, Type 1;   Acrocephaly, Skull Asymmetry, and Mild Syndactyly;   Apert Crouzon Disease;   Apert Syndrome;   Craniofacial-Skeletal-Dermatologic Dysplasia;   Dysostosis Craniofacialis with Hypertelorism;   Kurczynski Casperson Syndrome;   Noack Syndrome;   Noack Syndromes;   Syndactylic Oxycephalies;   Syndactylic Oxycephaly;   Type I Acrocephalosyndactylies;   Type I Acrocephalosyndactyly;   Type II Acrocephalosyndactylies;   acrocephalosyndactylias
 narrow_synonym: ACROCEPHALOSYNDACTYLY, TYPE II;   ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLY SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES;   ACS I APERT-CROUZON DISEASE;   ACS II;   VOGT cephalodactyly
 primary_id: MESH:D000168
 alt_id: OMIM:101200
 xref: EFO:0004123;   ICD9CM:755.55;   MONDO:0019796;   NCI:C34348;   NCI:C99099
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
acrocephalosyndactylia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr1 fibroblast growth factor receptor 1 ISO DNA:missense mutation: :p.P252R (human) RGD PMID:7874169 PMID:25251565 RGD:11567243, RGD:11567271 NCBI chr 8:26,008,808...26,067,819
Ensembl chr 8:26,003,670...26,065,734
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 severity
treatment
ISO
IAGP
IMP
ClinVar Annotator: match by term: Acrocephalosyndactyly type I | ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly | ClinVar Annotator: match by term: Craniofacial-skeletal-dermatologic dysplasia | ClinVar Annotator: match by term: Syndactylic oxycephaly
ClinVar Annotator: match by term: Acrocephalosyndactyly type I | ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly | ClinVar Annotator: match by term: Syndactylic oxycephaly
OMIM:101200
DNA:missense mutation:cds:p.P253R (human)
DNA:missense mutation:cds:p.A172F (human)
DNA:missense mutations:cds:p.S252W, p.P253R (human)
CTD Direct Evidence: marker/mechanism
DNA:mutations:cds:
OMIM
ClinVar
MouseDO
CTD
RGD
PMID:1641873 PMID:7607643 PMID:7655462 PMID:7668257 PMID:7719344 More... RGD:12801488, RGD:12801475, RGD:12801474, RGD:12801413, RGD:8547743 NCBI chr 7:129,764,181...129,868,538
Ensembl chr 7:129,764,181...132,725,079
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly ClinVar PMID:8723106 PMID:8841188 PMID:9042914 PMID:9107244 PMID:9279753 More... NCBI chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412
JBrowse link
G Twist1 twist basic helix-loop-helix transcription factor 1 ISO SCS,OMIM:101400;DNA:point mutation:exon:Y103X,Q119P
ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:1240778 PMID:8968762 PMID:8988166 PMID:8988167 PMID:9259286 More... RGD:1624353 NCBI chr12:34,007,670...34,009,830
Ensembl chr12:34,007,670...34,009,828
JBrowse link
Carpenter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bag2 BCL2-associated athanogene 2 ISO ClinVar Annotator: match by term: Acrocephalopolysyndactyly Type II | ClinVar Annotator: match by term: Carpenter syndrome ClinVar NCBI chr 1:33,784,565...33,796,831
Ensembl chr 1:33,784,565...33,796,876
JBrowse link
G Megf8 multiple EGF-like-domains 8 IAGP
ISO
OMIM:201000 | OMIM:614976
ClinVar Annotator: match by term: Carpenter syndrome
CTD Direct Evidence: marker/mechanism
MouseDO
ClinVar
CTD
NCBI chr 7:25,016,589...25,065,342
Ensembl chr 7:25,016,589...25,065,342
JBrowse link
G Rab23 RAB23, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ACPS 2 | ClinVar Annotator: match by term: Acrocephalopolysyndactyly Type II | ClinVar Annotator: match by term: Carpenter syndrome
CTD
ClinVar
PMID:9536098 PMID:16199547 PMID:17503333 PMID:17576681 PMID:20358613 More... NCBI chr 1:33,758,991...33,781,642
Ensembl chr 1:33,758,968...33,781,645
JBrowse link
Carpenter Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bag2 BCL2-associated athanogene 2 ISO ClinVar Annotator: match by term: Carpenter syndrome 1 ClinVar NCBI chr 1:33,784,565...33,796,831
Ensembl chr 1:33,784,565...33,796,876
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 chr 1:33,758,991...33,781,642
Ensembl chr 1:33,758,968...33,781,645
JBrowse link
Carpenter Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 2310022A10Rik RIKEN cDNA 2310022A10 gene ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:27,252,482...27,281,524
Ensembl chr 7:27,252,658...27,281,524
JBrowse link
G Actmap actin maturation protease ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:26,894,973...26,909,611
Ensembl chr 7:26,895,206...26,909,611
JBrowse link
G Akt2 thymoma viral proto-oncogene 2 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:27,290,977...27,340,251
Ensembl chr 7:27,290,977...27,340,251
JBrowse link
G Arhgef1 Rho guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:24,601,762...24,626,019
Ensembl chr 7:24,602,337...24,626,019
JBrowse link
G Atp1a3 ATPase, Na+/K+ transporting, alpha 3 polypeptide ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:24,677,592...24,705,338
Ensembl chr 7:24,677,592...24,705,383
JBrowse link
G Axl AXL receptor tyrosine kinase ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:25,455,925...25,488,502
Ensembl chr 7:25,456,698...25,488,130
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 chr 7:25,327,025...25,328,917
Ensembl chr 7:25,326,079...25,334,525
JBrowse link
G B9d2 B9 protein domain 2 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:25,380,205...25,385,987
Ensembl chr 7:25,380,205...25,385,983
JBrowse link
G Bckdha branched chain ketoacid dehydrogenase E1, alpha polypeptide ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:25,329,371...25,358,178
Ensembl chr 7:25,329,371...25,358,406
JBrowse link
G Blvrb biliverdin reductase B ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:27,147,403...27,165,406
Ensembl chr 7:27,147,403...27,165,569
JBrowse link
G Ccdc97 coiled-coil domain containing 97 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:25,410,537...25,418,460
Ensembl chr 7:25,410,531...25,418,513
JBrowse link
G Cd79a CD79A antigen (immunoglobulin-associated alpha) ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:24,596,922...24,601,283
Ensembl chr 7:24,596,806...24,601,622
JBrowse link
G Ceacam10 CEA cell adhesion molecule 10 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:24,476,592...24,484,081
Ensembl chr 7:24,476,631...24,484,082
JBrowse link
G Ceacam15 CEA cell adhesion molecule 15 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:16,405,256...16,409,630
Ensembl chr 7:16,405,256...16,409,630
JBrowse link
G Cic capicua transcriptional repressor ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:24,967,054...24,993,584
Ensembl chr 7:24,967,129...24,993,584
JBrowse link
G Cnfn cornifelin ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:25,067,041...25,069,149
Ensembl chr 7:25,067,045...25,069,149
JBrowse link
G Coq8b coenzyme Q8B ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:26,928,112...26,957,374
Ensembl chr 7:26,932,448...26,957,375
JBrowse link
G Cyp2a4 cytochrome P450, family 2, subfamily a, polypeptide 4 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:26,006,617...26,014,513
Ensembl chr 7:26,006,594...26,014,513
JBrowse link
G Cyp2a5 cytochrome P450, family 2, subfamily a, polypeptide 5 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:26,534,764...26,542,689
Ensembl chr 7:26,534,730...26,542,973
JBrowse link
G Cyp2b10 cytochrome P450, family 2, subfamily b, polypeptide 10 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:25,597,083...25,626,049
Ensembl chr 7:25,597,045...25,626,049
JBrowse link
G Cyp2f2 cytochrome P450, family 2, subfamily f, polypeptide 2 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:26,819,380...26,833,085
Ensembl chr 7:26,819,334...26,833,085
JBrowse link
G Cyp2s1 cytochrome P450, family 2, subfamily s, polypeptide 1 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:25,501,894...25,515,950
Ensembl chr 7:25,501,900...25,516,338
JBrowse link
G Dedd2 death effector domain-containing DNA binding protein 2 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:24,899,337...24,920,035
Ensembl chr 7:24,899,340...24,920,040
JBrowse link
G Dll3 delta like canonical Notch ligand 3 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:27,992,980...28,001,210
Ensembl chr 7:27,992,978...28,001,663
JBrowse link
G Dmac2 distal membrane arm assembly complex 2 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:25,318,839...25,324,975
Ensembl chr 7:25,318,839...25,324,976
JBrowse link
G Dmrtc2 doublesex and mab-3 related transcription factor like family C2 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:24,569,242...24,577,080
Ensembl chr 7:24,569,482...24,577,076
JBrowse link
G Dyrk1b dual-specificity tyrosine phosphorylation regulated kinase 1b ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:27,878,880...27,896,896
Ensembl chr 7:27,878,894...27,886,719
JBrowse link
G Egln2 egl-9 family hypoxia-inducible factor 2 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:26,858,083...26,866,227
Ensembl chr 7:26,858,083...26,866,227
JBrowse link
G Eid2 EP300 interacting inhibitor of differentiation 2 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:27,967,306...27,968,593
Ensembl chr 7:27,967,306...27,968,697
JBrowse link
G Eid2b EP300 interacting inhibitor of differentiation 2B ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:27,977,152...27,978,916
Ensembl chr 7:27,977,164...27,978,914
JBrowse link
G Erf Ets2 repressor factor ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:24,941,985...24,950,522
Ensembl chr 7:24,941,986...24,950,186
JBrowse link
G Erich4 glutamate rich 4 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:25,314,045...25,315,278
Ensembl chr 7:25,314,045...25,315,317
JBrowse link
G Exosc5 exosome component 5 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:25,358,578...25,367,457
Ensembl chr 7:25,358,589...25,370,793
JBrowse link
G Fbl fibrillarin ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:27,868,293...27,878,701
Ensembl chr 7:27,869,135...27,878,694
JBrowse link
G Fcgbp Fc fragment of IgG binding protein ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:27,770,661...27,820,289
Ensembl chr 7:27,770,661...27,820,287
JBrowse link
G Gm38591 predicted gene, 38591 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:27,942,447...27,942,941 JBrowse link
G Gm9881 predicted gene 9881 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr16:90,963,733...90,968,496 JBrowse link
G Grik5 glutamate receptor, ionotropic, kainate 5 (gamma 2) ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:24,709,274...24,775,421
Ensembl chr 7:24,709,274...24,771,771
JBrowse link
G Gsk3a glycogen synthase kinase 3 alpha ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:24,927,683...24,937,276
Ensembl chr 7:24,927,683...24,937,276
JBrowse link
G Hipk4 homeodomain interacting protein kinase 4 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:27,222,686...27,230,605
Ensembl chr 7:27,222,692...27,230,600
JBrowse link
G Hnrnpul1 heterogeneous nuclear ribonucleoprotein U-like 1 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:25,420,586...25,455,695
Ensembl chr 7:25,420,590...25,454,182
JBrowse link
G Itpkc inositol 1,4,5-trisphosphate 3-kinase C ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:26,906,595...26,928,042
Ensembl chr 7:26,906,597...26,928,086
JBrowse link
G Lipe lipase, hormone sensitive ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:25,078,952...25,097,911
Ensembl chr 7:25,078,952...25,098,135
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 chr 7:27,004,566...27,039,142
Ensembl chr 7:27,004,561...27,037,117
JBrowse link
G Lypd4 Ly6/Plaur domain containing 4 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:24,564,044...24,569,180
Ensembl chr 7:24,564,045...24,569,366
JBrowse link
G Map3k10 mitogen-activated protein kinase kinase kinase 10 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:27,355,800...27,374,059
Ensembl chr 7:27,355,800...27,374,023
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 chr 7:25,016,589...25,065,342
Ensembl chr 7:25,016,589...25,065,342
JBrowse link
G Mia MIA SH3 domain containing ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:26,879,166...26,880,574
Ensembl chr 7:26,879,167...26,880,582
JBrowse link
G Numbl numb-like ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:26,957,884...26,981,570
Ensembl chr 7:26,957,858...26,981,569
JBrowse link
G Pafah1b3 platelet-activating factor acetylhydrolase, isoform 1b, subunit 3 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:24,994,473...24,997,377
Ensembl chr 7:24,994,474...24,997,411
JBrowse link
G Pld3 phospholipase D family member 3 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:27,231,090...27,252,511
Ensembl chr 7:27,231,425...27,252,643
JBrowse link
G Plekhg2 pleckstrin homology domain containing, family G (with RhoGef domain) member 2 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:28,059,028...28,072,818
Ensembl chr 7:28,059,029...28,072,024
JBrowse link
G Pou2f2 POU domain, class 2, transcription factor 2 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:24,790,111...24,879,292
Ensembl chr 7:24,786,769...24,879,151
JBrowse link
G Prr19 proline rich 19 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:25,000,784...25,003,565
Ensembl chr 7:25,000,836...25,003,557
JBrowse link
G Prx periaxin ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:27,198,730...27,219,466
Ensembl chr 7:27,196,813...27,219,639
JBrowse link
G Psmc4 proteasome (prosome, macropain) 26S subunit, ATPase, 4 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:27,741,127...27,749,517
Ensembl chr 7:27,741,132...27,749,526
JBrowse link
G Rab4b RAB4B, member RAS oncogene family ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:26,867,858...26,878,308
Ensembl chr 7:26,867,849...26,878,321
JBrowse link
G Rabac1 Rab acceptor 1 (prenylated) ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:24,669,175...24,672,153
Ensembl chr 7:24,669,177...24,672,179
JBrowse link
G Rps16 ribosomal protein S16 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:28,050,114...28,052,123
Ensembl chr 7:28,050,077...28,052,580
JBrowse link
G Rps19 ribosomal protein S19 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:24,584,013...24,589,236
Ensembl chr 7:24,583,796...24,589,231
JBrowse link
G Selenov selenoprotein V ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:27,984,077...27,990,611
Ensembl chr 7:27,984,077...27,990,611
JBrowse link
G Sertad1 SERTA domain containing 1 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:27,186,378...27,189,741
Ensembl chr 7:27,186,335...27,189,741
JBrowse link
G Sertad3 SERTA domain containing 3 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:27,173,265...27,176,789
Ensembl chr 7:27,173,193...27,176,789
JBrowse link
G Shkbp1 Sh3kbp1 binding protein 1 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:27,041,553...27,055,440
Ensembl chr 7:27,041,558...27,055,444
JBrowse link
G Snrpa small nuclear ribonucleoprotein polypeptide A ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:26,886,431...26,895,696
Ensembl chr 7:26,886,430...26,895,696
JBrowse link
G Sptbn4 spectrin beta, non-erythrocytic 4 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:27,055,808...27,147,128
Ensembl chr 7:27,055,808...27,147,111
JBrowse link
G Supt5 suppressor of Ty 5, DSIF elongation factor subunit ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:28,014,316...28,038,341
Ensembl chr 7:28,014,316...28,038,171
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502
JBrowse link
G Timm50 translocase of inner mitochondrial membrane 50 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:28,004,947...28,011,517
Ensembl chr 7:28,004,941...28,011,497
JBrowse link
G Tmem145 transmembrane protein 145 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:25,004,981...25,015,621
Ensembl chr 7:25,005,531...25,015,620
JBrowse link
G Tmem91 transmembrane protein 91 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:25,368,564...25,379,011
Ensembl chr 7:25,368,564...25,374,591
JBrowse link
G Ttc9b tetratricopeptide repeat domain 9B ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:27,353,349...27,355,632
Ensembl chr 7:27,353,340...27,356,771
JBrowse link
G Zfp11 zinc finger protein 11 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 5:129,731,659...129,747,152
Ensembl chr 5:129,731,657...129,747,163
JBrowse link
G Zfp526 zinc finger protein 526 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:24,919,272...24,929,688
Ensembl chr 7:24,920,850...24,926,932
JBrowse link
G Zfp574 zinc finger protein 574 ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:24,775,099...24,782,917
Ensembl chr 7:24,771,992...24,782,917
JBrowse link
G Zfp607a zinc finger protein 607A ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:27,559,922...27,606,709
Ensembl chr 7:27,556,952...27,580,250
JBrowse link
G Zfp780b zinc finger protein 780B ISO ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar PMID:28492532 NCBI chr 7:27,658,560...27,678,768
Ensembl chr 7:27,658,560...27,678,596
JBrowse link
Greig cephalopolysyndactyly syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdk13 cyclin dependent kinase 13 ISO ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome ClinVar PMID:10441570 PMID:15739154 PMID:18000979 PMID:20672375 PMID:24736735 More... NCBI chr13:17,885,309...17,979,960
Ensembl chr13:17,884,900...17,979,682
JBrowse link
G Gli3 GLI-Kruppel family member GLI3 ISO
IAGP
ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome | ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome, severe | ClinVar Annotator: match by term: Polysyndactyly with peculiar skull shape
OMIM:175700
DNA:mutations:exon, intron:multiple
DNA:nonsense mutations, missense mutations, splice-site mutations:exon, intron:multiple
DNA:mutations: :multiple
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
RGD
PMID:1879832 PMID:6641002 PMID:9302279 PMID:9536098 PMID:10441342 More... RGD:12738222, RGD:12738208, RGD:12738205, RGD:12738141 NCBI chr13:15,638,308...15,904,611
Ensembl chr13:15,637,820...15,904,611
JBrowse link
G Inhba inhibin beta-A ISO ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome ClinVar PMID:10441570 PMID:15739154 PMID:18000979 PMID:20672375 PMID:24736735 More... NCBI chr13:16,178,841...16,206,194
Ensembl chr13:16,186,436...16,206,206
JBrowse link
G Mplkip M-phase specific PLK1 intereacting protein ISO ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome ClinVar PMID:10441570 PMID:15739154 PMID:18000979 PMID:20672375 PMID:24736735 More... NCBI chr13:17,869,998...17,873,697
Ensembl chr13:17,869,777...17,874,333
JBrowse link
G Rala v-ral simian leukemia viral oncogene A (ras related) ISO ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome ClinVar PMID:10441570 PMID:15739154 PMID:18000979 PMID:20672375 PMID:24736735 More... NCBI chr13:18,055,160...18,118,802
Ensembl chr13:18,055,156...18,118,824
JBrowse link
G Sugct succinyl-CoA glutarate-CoA transferase ISO ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome ClinVar PMID:10441570 PMID:15739154 PMID:18000979 PMID:20672375 PMID:24736735 More... NCBI chr13:17,032,057...17,869,380
Ensembl chr13:17,032,057...17,870,138
JBrowse link
Pfeiffer syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr1 fibroblast growth factor receptor 1 ISO
IAGP
ClinVar Annotator: match by term: Acrocephalosyndactyly, type 5 | ClinVar Annotator: match by term: Pfeiffer syndrome | ClinVar Annotator: match by term: Pfeiffer syndrome type 1
CTD Direct Evidence: marker/mechanism
OMIM:101600
OMIM
ClinVar
CTD
MouseDO
PMID:1456217 PMID:7795583 PMID:7874169 PMID:10861678 PMID:10942429 More... NCBI chr 8:26,008,808...26,067,819
Ensembl chr 8:26,003,670...26,065,734
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO
IAGP
ClinVar Annotator: match by term: Acrocephalosyndactyly, type 5 | ClinVar Annotator: match by term: Pfeiffer syndrome
CTD Direct Evidence: marker/mechanism
DNA:mutations:CDS:multiple (human)
DNA:SNPs, missense mutation:splice junction, CDS:multiple (human)
OMIM:101600
OMIM
ClinVar
CTD
MouseDO
RGD
PMID:7581378 PMID:7607643 PMID:7655462 PMID:7668257 PMID:7719329 More... RGD:155782906, RGD:155663661 NCBI chr 7:129,764,181...129,868,538
Ensembl chr 7:129,764,181...132,725,079
JBrowse link
Robinow Sorauf Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Twist1 twist basic helix-loop-helix transcription factor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acrocephalosyndactyly, Robinow-Sorauf type | ClinVar Annotator: match by term: Robinow-Sorauf syndrome
OMIM
CTD
ClinVar
PMID:1240778 PMID:10465122 PMID:10749989 PMID:12791045 PMID:16251895 More... NCBI chr12:34,007,670...34,009,830
Ensembl chr12:34,007,670...34,009,828
JBrowse link
Saethre-Chotzen syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Chotzen syndrome | ClinVar Annotator: match by term: Saethre-Chotzen syndrome OMIM
ClinVar
PMID:7668257 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 More... NCBI chr 7:129,764,181...129,868,538
Ensembl chr 7:129,764,181...132,725,079
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Saethre-Chotzen syndrome ClinVar PMID:8723106 PMID:8841188 PMID:9042914 PMID:9107244 PMID:9279753 More... NCBI chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412
JBrowse link
G Twist1 twist basic helix-loop-helix transcription factor 1 ISO
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ACS III | ClinVar Annotator: match by term: Chotzen syndrome | ClinVar Annotator: match by term: Saethre-Chotzen syndrome
OMIM:101400
CTD
ClinVar
OMIM
MouseDO
PMID:1240778 PMID:8968762 PMID:8988166 PMID:8988167 PMID:9259286 More... NCBI chr12:34,007,670...34,009,830
Ensembl chr12:34,007,670...34,009,828
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18296
    disease of anatomical entity 15613
      musculoskeletal system disease 7906
        Musculoskeletal Abnormalities 3327
          synostosis 375
            acrocephalosyndactylia 89
              Cardiocranial Syndrome 0
              Carpenter syndrome + 79
              Goodman Camptodactyly 0
              Greig cephalopolysyndactyly syndrome 6
              Maroteaux Fonfria Syndrome 0
              Pfeiffer syndrome 2
              Robinow Sorauf Syndrome 1
              Saethre-Chotzen syndrome 3
              Sakati-Nyhan syndrome 0
              Summitt Syndrome 0
              Vogt Cephalodactyly 0
Path 2
Term Annotations click to browse term
  disease 18296
    disease of anatomical entity 15613
      musculoskeletal system disease 7906
        connective tissue disease 5364
          bone disease 3871
            bone development disease 2273
              dysostosis 577
                synostosis 375
                  craniosynostosis 318
                    acrocephalosyndactylia 89
                      Cardiocranial Syndrome 0
                      Carpenter syndrome + 79
                      Goodman Camptodactyly 0
                      Greig cephalopolysyndactyly syndrome 6
                      Maroteaux Fonfria Syndrome 0
                      Pfeiffer syndrome 2
                      Robinow Sorauf Syndrome 1
                      Saethre-Chotzen syndrome 3
                      Sakati-Nyhan syndrome 0
                      Summitt Syndrome 0
                      Vogt Cephalodactyly 0
paths to the root