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Pathways

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:Arachnodactyly
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Accession:DOID:9005367 term browser browse the term
Definition:An abnormal bone development that is characterized by extra long and slender hands and fingers, such that the clenched thumb extends beyond the ulnar side of the hand. Arachnodactyly can include feet and toes. Arachnodactyly has been associated with several gene mutations and syndromes.
Synonyms:exact_synonym: Arachnodactylies
 primary_id: MESH:D054119



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Arachnodactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Arachnodactyly
CTD
ClinVar
PMID:7611299 PMID:8040326 PMID:8541880 PMID:8791520 PMID:8894692 More... NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:133,008,361...133,204,283
JBrowse link
G Fzd4 frizzled class receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17103440 NCBI chr 1:152,692,507...152,701,372
Ensembl chr 1:152,692,507...152,701,372
JBrowse link
BOUDIN-MORTIER SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Npr3 natriuretic peptide receptor 3 ISO ClinVar Annotator: match by term: Boudin-Mortier syndrome | ClinVar Annotator: match by term: NPR3-related condition OMIM
ClinVar
PMID:24559625 PMID:25741868 PMID:28492532 PMID:30032985 PMID:35233476 More... NCBI chr 2:62,592,557...62,660,497
Ensembl chr 2:62,597,668...62,660,066
JBrowse link
congenital contractural arachnodactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Arthrogryposis, distal, type 9 | ClinVar Annotator: match by term: Beals syndrome | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar Annotator: match by term: Congenital contractural arachnodactyly
ClinVar Annotator: match by term: Arachnodactyly, contractural Beals type | ClinVar Annotator: match by term: Arthrogryposis, distal, type 9 | ClinVar Annotator: match by term: Beals syndrome | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar Annotator: match by term: Congenital contractural arachnodactyly | ClinVar Annotator: match by term: Contractures, multiple with arachnodactyly | ClinVar Annotator: match by term: Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis
ClinVar Annotator: match by term: Arachnodactyly, contractural Beals type | ClinVar Annotator: match by term: Arthrogryposis, distal, type 9 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar Annotator: match by term: Congenital contractural arachnodactyly | ClinVar Annotator: match by term: Contractures, multiple with arachnodactyly | ClinVar Annotator: match by term: Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
RGD
PMID:3495735 PMID:4750422 PMID:7493032 PMID:7606779 PMID:7633409 More... RGD:1300364 NCBI chr18:53,696,197...53,901,992
Ensembl chr18:53,697,708...53,902,191
JBrowse link
Marden-Walker Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Connective tissue disorder Marden Walker type | ClinVar Annotator: match by term: Marden-Walker syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:24726473 PMID:25741868 PMID:28492532 PMID:30988732 PMID:31589614 More... NCBI chr18:58,738,734...59,115,252
Ensembl chr18:58,738,740...59,115,215
JBrowse link
Shprintzen-Goldberg Craniosynostosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acap3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,783,382...171,797,709
Ensembl chr 5:171,783,382...171,798,191
JBrowse link
G Actrt2 actin-related protein T2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:170,518,470...170,519,870
Ensembl chr 5:170,518,165...170,521,164
JBrowse link
G Agrn agrin ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:172,031,528...172,064,429
Ensembl chr 5:172,031,528...172,064,539
JBrowse link
G Ankrd65 ankyrin repeat domain 65 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,680,597...171,682,854
Ensembl chr 5:171,680,597...171,683,431
JBrowse link
G Arhgef16 Rho guanine nucleotide exchange factor 16 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:170,126,573...170,148,624
Ensembl chr 5:170,126,575...170,148,624
JBrowse link
G Atad3a ATPase family, AAA domain containing 3A ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,632,545...171,652,725
Ensembl chr 5:171,632,547...171,652,725
JBrowse link
G B3galt6 Beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,866,428...171,868,564
Ensembl chr 5:171,864,094...171,874,789
JBrowse link
G C1qtnf12 C1q and TNF related 12 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,833,854...171,838,229
Ensembl chr 5:171,833,854...171,838,800
JBrowse link
G C5h1orf159 similar to human chromosome 1 open reading frame 159 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:171,983,700...172,001,373
Ensembl chr 5:171,983,936...172,001,373
JBrowse link
G Ccdc27 coiled-coil domain containing 27 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:169,867,706...169,881,820
Ensembl chr 5:169,867,709...169,881,888
JBrowse link
G Ccnl2 cyclin L2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,698,951...171,711,037
Ensembl chr 5:171,699,689...171,711,231
JBrowse link
G Cdk11b cyclin-dependent kinase 11B ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,495,042...171,521,143
Ensembl chr 5:171,495,776...171,521,145
JBrowse link
G Cep104 centrosomal protein 104 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:169,817,383...169,849,681
Ensembl chr 5:169,817,182...169,852,695
JBrowse link
G Cfap74 cilia and flagella associated protein 74 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,252,907...171,328,351
Ensembl chr 5:171,262,113...171,328,349
JBrowse link
G Cptp ceramide-1-phosphate transfer protein ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,757,181...171,761,271
Ensembl chr 5:171,757,181...171,761,266
JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,738,911...171,750,967
Ensembl chr 5:171,739,133...171,750,966
JBrowse link
G Faap20 FA core complex associated protein 20 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,083,328...171,097,599
Ensembl chr 5:171,087,847...171,097,599
JBrowse link
G Fndc10 fibronectin type III domain containing 10 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,581,960...171,584,519
Ensembl chr 5:171,580,033...171,595,399
JBrowse link
G Gabrd gamma-aminobutyric acid type A receptor subunit delta ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,240,813...171,252,709
Ensembl chr 5:171,240,789...171,253,094
JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,357,778...171,424,489
Ensembl chr 5:171,357,797...171,424,488
JBrowse link
G Hes5 hes family bHLH transcription factor 5 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:170,804,511...170,807,988
Ensembl chr 5:170,803,940...170,806,021
JBrowse link
G Ints11 integrator complex subunit 11 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,761,370...171,779,883
Ensembl chr 5:171,761,371...171,779,883
JBrowse link
G Kifbp kinesin family binding protein ISO ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome ClinVar PMID:15883926 PMID:18414213 PMID:23427148 PMID:24072599 PMID:24901346 More... NCBI chr20:31,055,625...31,075,232
Ensembl chr20:31,055,626...31,075,201
JBrowse link
G Lrrc47 leucine rich repeat containing 47 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:169,852,926...169,862,598
Ensembl chr 5:169,852,897...169,862,598
JBrowse link
G Megf6 multiple EGF-like-domains 6 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:170,020,699...170,121,557
Ensembl chr 5:170,020,778...170,121,554
JBrowse link
G Mib2 MIB E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,526,037...171,542,479
Ensembl chr 5:171,526,037...171,541,910
JBrowse link
G Mir200a microRNA 200a ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:171,930,717...171,930,805 JBrowse link
G Mir200b microRNA 200b ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:171,931,495...171,931,589 JBrowse link
G Mir429 microRNA 429 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:171,929,682...171,929,766 JBrowse link
G Mmel1 membrane metallo-endopeptidase-like 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:170,713,602...170,744,058
Ensembl chr 5:170,713,627...170,744,058
JBrowse link
G Mmp23 matrix metallopeptidase 23 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,521,905...171,525,007
Ensembl chr 5:171,520,494...171,524,695
JBrowse link
G Morn1 MORN repeat containing 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:170,928,086...170,987,219
Ensembl chr 5:170,929,321...170,987,218
JBrowse link
G Mrpl20 mitochondrial ribosomal protein L20 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,690,664...171,695,728
Ensembl chr 5:171,691,198...171,695,728
JBrowse link
G Mxra8 matrix remodeling associated 8 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,731,153...171,735,879
Ensembl chr 5:171,731,353...171,735,879
JBrowse link
G Nadk NAD kinase ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,427,973...171,458,586
Ensembl chr 5:171,428,000...171,458,579
JBrowse link
G Nek9 NIMA-related kinase 9 ISO ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome ClinVar PMID:25741868 NCBI chr 6:110,675,107...110,715,586
Ensembl chr 6:110,675,107...110,715,586
JBrowse link
G Pank4 pantothenate kinase 4 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:170,807,744...170,824,478
Ensembl chr 5:170,807,745...170,824,477
JBrowse link
G Pex10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:170,910,136...170,915,302
Ensembl chr 5:170,910,157...170,916,685
JBrowse link
G Plch2 phospholipase C, eta 2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:170,826,543...170,885,012
Ensembl chr 5:170,826,543...170,885,152
JBrowse link
G Prdm16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:170,162,275...170,486,371
Ensembl chr 5:170,162,275...170,485,804
JBrowse link
G Prkcz protein kinase C, zeta ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,101,774...171,212,694
Ensembl chr 5:171,101,774...171,212,674
JBrowse link
G Prxl2b peroxiredoxin like 2B ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:170,744,953...170,747,556
Ensembl chr 5:170,744,953...170,747,556
JBrowse link
G Pusl1 pseudouridine synthase like 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,773,284...171,782,893
Ensembl chr 5:171,773,331...171,783,339
JBrowse link
G Rer1 retention in endoplasmic reticulum sorting receptor 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:170,916,643...170,929,073
Ensembl chr 5:170,916,905...170,928,980
JBrowse link
G Rnf223 ring finger protein 223 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:172,005,566...172,008,456
Ensembl chr 5:172,005,566...172,008,458
JBrowse link
G Sdf4 stromal cell derived factor 4 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,868,591...171,885,827
Ensembl chr 5:171,868,563...171,888,884
JBrowse link
G Ski Ski proto-oncogene ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome | ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
OMIM
CTD
ClinVar
PMID:7977351 PMID:8449506 PMID:8981946 PMID:9536098 PMID:15979919 More... NCBI chr 5:170,995,851...171,064,957
Ensembl chr 5:170,995,851...171,064,957
JBrowse link
G Slc35e2b solute carrier family 35, member E2B ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,465,222...171,493,317
Ensembl chr 5:171,475,386...171,493,315
JBrowse link
G Smim1 small integral membrane protein 1 (Vel blood group) ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:169,861,751...169,867,070
Ensembl chr 5:169,864,251...169,866,942
JBrowse link
G Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,595,919...171,625,675
Ensembl chr 5:171,595,851...171,625,268
JBrowse link
G Tas1r3 taste 1 receptor member 3 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,750,937...171,754,993
Ensembl chr 5:171,750,937...171,754,993
JBrowse link
G Tmem240 transmembrane protein 240 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,625,830...171,653,836
Ensembl chr 5:171,626,275...171,633,044
JBrowse link
G Tmem278 transmembrane protein 278 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,673,319...171,676,143
Ensembl chr 5:171,673,319...171,676,143
JBrowse link
G Tmem52 transmembrane protein 52 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,330,948...171,332,704
Ensembl chr 5:171,330,966...171,332,704
JBrowse link
G Tnfrsf14 TNF receptor superfamily member 14 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:170,768,413...170,776,749
Ensembl chr 5:170,768,416...170,776,046
JBrowse link
G Tnfrsf18 TNF receptor superfamily member 18 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:171,901,734...171,904,578
Ensembl chr 5:171,901,717...171,904,576
JBrowse link
G Tnfrsf4 TNF receptor superfamily member 4 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,889,134...171,891,824
Ensembl chr 5:171,889,117...171,892,616
JBrowse link
G Tp73 tumor protein p73 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:169,903,801...169,988,075
Ensembl chr 5:169,903,801...169,963,552
JBrowse link
G Tprg1l tumor protein p63 regulated 1-like ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:170,004,577...170,007,784
Ensembl chr 5:170,004,577...170,007,983
JBrowse link
G Ttc34 tetratricopeptide repeat domain 34 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:170,693,410...170,711,215
Ensembl chr 5:170,693,402...170,710,368
JBrowse link
G Ttll10 tubulin tyrosine ligase like 10 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chr 5:171,912,371...171,937,733
Ensembl chr 5:171,912,376...171,926,337
JBrowse link
G Ube2j2 ubiquitin-conjugating enzyme E2, J2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,815,607...171,830,037
Ensembl chr 5:171,815,623...171,830,034
JBrowse link
G Vwa1 von Willebrand factor A domain containing 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:171,659,694...171,664,880
Ensembl chr 5:171,659,698...171,664,880
JBrowse link
G Wrap73 WD repeat containing, antisense to TP73 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chr 5:169,988,538...170,004,071
Ensembl chr 5:169,988,553...170,004,069
JBrowse link
Van den Ende-Gupta syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scarf2 scavenger receptor class F, member 2 ISO ClinVar Annotator: match by term: SCARF2-related condition | ClinVar Annotator: match by term: Van den Ende-Gupta syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:20887961 PMID:21108395 PMID:23808541 PMID:24478002 PMID:25741868 More... NCBI chr11:96,680,237...96,691,686
Ensembl chr11:96,680,243...96,691,626
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      musculoskeletal system disease 8492
        Musculoskeletal Abnormalities 3467
          Congenital Limb Deformities 1072
            Arachnodactyly 70
              Achard syndrome 0
              Arachnodactyly-Ataxia-Cataract-Aminoaciduria-Mental Retardation 0
              BOUDIN-MORTIER SYNDROME 1
              Bhaskar Jagannathan Syndrome 0
              Jaffer Beighton Syndrome 0
              Kosztolanyi Syndrome 0
              Marden-Walker Syndrome 1
              Scoliosis, Arachnodactyly, and Blindness 0
              Shprintzen-Goldberg Craniosynostosis 64
              Van den Ende-Gupta syndrome 1
              congenital contractural arachnodactyly 1
Path 2
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        Congenital Abnormalities 7954
          Musculoskeletal Abnormalities 3467
            Congenital Limb Deformities 1072
              Arachnodactyly 70
                Achard syndrome 0
                Arachnodactyly-Ataxia-Cataract-Aminoaciduria-Mental Retardation 0
                BOUDIN-MORTIER SYNDROME 1
                Bhaskar Jagannathan Syndrome 0
                Jaffer Beighton Syndrome 0
                Kosztolanyi Syndrome 0
                Marden-Walker Syndrome 1
                Scoliosis, Arachnodactyly, and Blindness 0
                Shprintzen-Goldberg Craniosynostosis 64
                Van den Ende-Gupta syndrome 1
                congenital contractural arachnodactyly 1
paths to the root