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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:Contracture
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Accession:DOID:9006836 term browser browse the term
Definition:Prolonged shortening of the muscle or other soft tissue around a joint, preventing movement of the joint.
Synonyms:exact_synonym: Contractures
 primary_id: MESH:D003286;   RDO:0000395
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Contracture term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca7 ATP binding cassette subfamily A member 7 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr 7:9,691,452...9,711,466
Ensembl chr 7:9,691,449...9,711,425
JBrowse link
G Adamtsl2 ADAMTS-like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18677313 NCBI chr 3:10,397,774...10,434,557
Ensembl chr 3:10,404,626...10,434,554
JBrowse link
G Antxr2 ANTXR cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12973667 PMID:14508707 NCBI chr14:11,542,266...11,682,112
Ensembl chr14:11,541,772...11,682,094
JBrowse link
G Chrm1 cholinergic receptor, muscarinic 1 ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:25741868 NCBI chr 1:205,567,046...205,583,001
Ensembl chr 1:205,567,220...205,582,356
JBrowse link
G Col1a1 collagen type I alpha 1 chain treatment IEP RGD PMID:26097527 RGD:11041578 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
JBrowse link
G Col3a1 collagen type III alpha 1 chain treatment IEP RGD PMID:26097527 RGD:11041578 NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
JBrowse link
G Drg1 developmentally regulated GTP binding protein 1 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr14:78,103,876...78,119,976
Ensembl chr14:78,103,876...78,119,953
JBrowse link
G Ergic1 endoplasmic reticulum-golgi intermediate compartment 1 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr10:16,531,192...16,627,183
Ensembl chr10:16,531,194...16,626,957
JBrowse link
G Fat1 FAT atypical cadherin 1 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107
JBrowse link
G Fgfrl1 fibroblast growth factor receptor-like 1 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr14:1,009,863...1,022,620
Ensembl chr14:1,009,786...1,021,928
JBrowse link
G Flii FLII, actin remodeling protein ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr10:45,394,032...45,408,051
Ensembl chr10:45,394,032...45,407,970
JBrowse link
G Gldn gliomedin ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:25741868 PMID:28726266 NCBI chr 8:54,679,015...54,723,198
Ensembl chr 8:54,679,119...54,723,196
JBrowse link
G Hoxa11 homeobox A11 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr 4:81,342,527...81,346,189
Ensembl chr 4:81,342,528...81,346,232
JBrowse link
G Mid1ip1 MID1 interacting protein 1 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr  X:12,060,993...12,063,318
Ensembl chr  X:12,060,883...12,065,774
JBrowse link
G Mybpc2 myosin binding protein C2 ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:26752647 NCBI chr 1:94,994,104...95,017,650
Ensembl chr 1:94,994,104...95,017,584
JBrowse link
G Myh7b myosin heavy chain 7B ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:26752647 NCBI chr 3:144,076,911...144,122,714
Ensembl chr 3:144,098,190...144,122,084
JBrowse link
G Myo9a myosin IXA ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:26752647 NCBI chr 8:60,149,234...60,348,726
Ensembl chr 8:60,149,234...60,350,514
JBrowse link
G Myom2 myomesin 2 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr16:74,520,148...74,592,658
Ensembl chr16:74,520,157...74,592,772
JBrowse link
G Myom3 myomesin 3 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr 5:147,992,737...148,043,282
Ensembl chr 5:147,992,737...148,043,274
JBrowse link
G Nr2c1 nuclear receptor subfamily 2, group C, member 1 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr 7:28,715,347...28,768,624
Ensembl chr 7:28,715,562...28,767,160
JBrowse link
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216
JBrowse link
G Prdm2 PR/SET domain 2 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr 5:155,421,066...155,531,884
Ensembl chr 5:155,422,134...155,531,825
JBrowse link
G Prg4 proteoglycan 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10545950 NCBI chr13:62,487,257...62,504,657
Ensembl chr13:62,487,257...62,504,119
JBrowse link
G Psd3 pleckstrin and Sec7 domain containing 3 ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:26752647 NCBI chr16:21,465,643...22,035,846
Ensembl chr16:21,465,639...22,034,547
JBrowse link
G Ryr3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:28492532 PMID:29498452 NCBI chr 3:99,431,755...99,979,125
Ensembl chr 3:99,432,505...99,704,961
JBrowse link
G Slc26a2 solute carrier family 26 member 2 ISO associated with Diastrophic Dysplasia;DNA:mutations:css:p.R279W, p.R178X, p.N425D,c.727-1G>C (human) RGD PMID:21155763 RGD:11072411 NCBI chr18:54,648,276...54,666,627
Ensembl chr18:54,652,951...54,666,626
JBrowse link
G Sptbn4 spectrin, beta, non-erythrocytic 4 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr 1:82,650,750...82,738,345
Ensembl chr 1:82,650,751...82,737,228
JBrowse link
G Syt2 synaptotagmin 2 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr13:46,088,046...46,197,976
Ensembl chr13:46,185,282...46,193,859
JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr 6:105,704,058...105,726,661
Ensembl chr 6:105,704,236...105,726,564
JBrowse link
G Tmem214 transmembrane protein 214 ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr 6:25,501,575...25,510,444
Ensembl chr 6:25,502,698...25,510,444
JBrowse link
G Tor1a torsin family 1, member A ISO ClinVar Annotator: match by term: Contractures ClinVar NCBI chr 3:14,250,667...14,257,704
Ensembl chr 3:14,250,676...14,257,691
JBrowse link
G Vps8 VPS8 subunit of CORVET complex ISO ClinVar Annotator: match by term: Contractures ClinVar PMID:26752647 NCBI chr11:79,402,236...79,634,234
Ensembl chr11:79,402,239...79,634,133
JBrowse link
Bethlem myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col12a1 collagen type XII alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:80,547,592...80,665,665
Ensembl chr 8:80,547,593...80,665,686
JBrowse link
G Col6a1 collagen type VI alpha 1 chain ISO ClinVar Annotator: match by OMIM:158810
ClinVar Annotator: match by term: Collagen VI-related myopathy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bethlem myopathy 1
ClinVar
CTD
PMID:7695699 PMID:8218237 PMID:9536098 PMID:11707460 PMID:15689448 More... NCBI chr20:11,906,105...11,924,599
Ensembl chr20:11,905,957...11,924,597
JBrowse link
G Col6a2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by OMIM:158810
ClinVar Annotator: match by term: Collagen VI-related myopathy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:12840783 PMID:15689448 PMID:16130093 PMID:16199547 PMID:16935502 More... NCBI chr20:12,021,676...12,049,425
Ensembl chr20:12,021,767...12,057,564
JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by OMIM:158810
ClinVar Annotator: match by term: Collagen VI-related myopathy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bethlem myopathy 1
ClinVar
CTD
PMID:9536098 PMID:15563506 PMID:15689448 PMID:16935502 PMID:17576681 More... NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471
JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: Collagen VI-related myopathy ClinVar PMID:18414213 PMID:24801232 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr20:12,055,203...12,068,717
Ensembl chr20:12,055,208...12,068,735
JBrowse link
Bethlem Myopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ackr3 atypical chemokine receptor 3 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:90,799,682...90,811,246
Ensembl chr 9:90,799,686...90,811,237
JBrowse link
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:14673707 PMID:25741868 PMID:28492532 NCBI chr  X:15,185,353...15,339,977
Ensembl chr  X:15,185,451...15,334,264
JBrowse link
G Col6a1 collagen type VI alpha 1 chain susceptibility ISO Bethlem myopathy, OMIM:158810;DNA:mutation:cds:962G>T,p.G286V(human)
ClinVar Annotator: match by term: Bethlem myopathy 1
ClinVar
OMIM
RGD
PMID:7695699 PMID:7881296 PMID:8218237 PMID:8268929 PMID:8782832 More... RGD:1600934 NCBI chr20:11,906,105...11,924,599
Ensembl chr20:11,905,957...11,924,597
JBrowse link
G Col6a2 collagen type VI alpha 2 chain susceptibility ISO Bethlem myopathy, OMIM:158810, DNA:mutation:cds:898G>A, p.G250S(human)
ClinVar Annotator: match by term: Bethlem myopathy 1
ClinVar
OMIM
RGD
PMID:1788629 PMID:4271325 PMID:4793163 PMID:7695699 PMID:7785673 More... RGD:1600934 NCBI chr20:12,021,676...12,049,425
Ensembl chr20:12,021,767...12,057,564
JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Bethlem myopathy 1 OMIM
ClinVar
PMID:7695699 PMID:8218237 PMID:9536084 PMID:9536098 PMID:11992252 More... NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471
JBrowse link
G Cops8 COP9 signalosome subunit 8 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:91,207,427...91,217,258
Ensembl chr 9:91,207,395...91,217,258
JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:18414213 PMID:24801232 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr20:12,055,203...12,068,717
Ensembl chr20:12,055,208...12,068,735
JBrowse link
Bethlem Myopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col12a1 collagen type XII alpha 1 chain ISO ClinVar Annotator: match by term: Bethlem myopathy 2 ClinVar
OMIM
PMID:24334604 PMID:24334769 PMID:25741868 PMID:28492532 NCBI chr 8:80,547,592...80,665,665
Ensembl chr 8:80,547,593...80,665,686
JBrowse link
Bone Fragility with Contractures, Arterial Rupture, and Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plod3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 ISO ClinVar Annotator: match by term: Bone fragility with contractures, arterial rupture, and deafness
ClinVar Annotator: match by OMIM:612394
OMIM
ClinVar
PMID:18834968 PMID:25741868 PMID:28492532 NCBI chr12:19,676,384...19,686,945
Ensembl chr12:19,676,386...19,686,960
JBrowse link
congenital contractural arachnodactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Congenital contractural arachnodactyly
ClinVar Annotator: match by term: Arthrogryposis, distal, type 9
ClinVar Annotator: match by OMIM:121050
ClinVar Annotator: match by null
ClinVar
OMIM
RGD
PMID:3495735 PMID:4750422 PMID:7493032 PMID:7633409 PMID:8653794 More... RGD:1300364 NCBI chr18:51,499,737...51,703,976
Ensembl chr18:51,499,737...51,703,976
JBrowse link
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nalcn sodium leak channel, non-selective ISO ClinVar Annotator: match by term: Congenital contractures of the limbs and face, hypotonia, and developmental delay ClinVar
OMIM
PMID:25683120 PMID:25741868 PMID:25864427 PMID:26763878 PMID:26938784 More... NCBI chr15:100,398,615...100,712,283
Ensembl chr15:100,398,615...100,741,001
JBrowse link
Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Distal arthrogryposis type 8
ClinVar Annotator: match by term: Contractures, pterygia, and variable skeletal fusions syndrome 1A
ClinVar
OMIM
PMID:18414213 PMID:18470895 PMID:25741868 PMID:25957469 PMID:27381093 More... NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992
JBrowse link
Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B
ClinVar Annotator: match by term: CONTRACTURES, PTERYGIA, AND VARIABLE SKELETAL FUSIONS SYNDROME 1B
OMIM
ClinVar
PMID:18414213 PMID:25741868 PMID:25741870 PMID:29805041 NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992
JBrowse link
Growth Deficiency and Mental Retardation with Facial Dysmorphism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Wiedemann-Steiner syndrome ClinVar NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493
JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Wiedemann-Steiner syndrome ClinVar NCBI chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358
JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Wiedemann-Steiner syndrome
ClinVar Annotator: match by OMIM:605130
OMIM
ClinVar
PMID:18414213 PMID:22795537 PMID:24088041 PMID:25326635 PMID:25326637 More... NCBI chr 8:45,116,771...45,193,320
Ensembl chr 8:45,118,814...45,193,181
JBrowse link
G Smc1a structural maintenance of chromosomes 1A ISO ClinVar Annotator: match by term: Growth deficiency and mental retardation with facial dysmorphism ClinVar PMID:25574841 NCBI chr  X:21,103,323...21,148,053
Ensembl chr  X:21,103,282...21,148,056
JBrowse link
hereditary spastic paraplegia 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erlin2 ER lipid raft associated 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 18
ClinVar Annotator: match by OMIM:611225
OMIM
ClinVar
PMID:21330303 PMID:23109145 PMID:25741868 NCBI chr16:65,017,654...65,034,184
Ensembl chr16:65,018,532...65,033,671
JBrowse link
Hip Contracture term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Hip contractures ClinVar PMID:17561957 PMID:30311386 NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
JBrowse link
histiocytosis-lymphadenopathy plus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc29a3 solute carrier family 29 member 3 ISO ClinVar Annotator: match by term: Histiocytosis-lymphadenopathy plus syndrome
ClinVar Annotator: match by OMIM:602782
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by null
OMIM
ClinVar
CTD
PMID:9536098 PMID:9545394 PMID:16118898 PMID:16155931 PMID:16199547 More... NCBI chr20:28,645,265...28,685,388
Ensembl chr20:28,647,391...28,685,388
JBrowse link
lethal congenital contracture syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pip5k1c phosphatidylinositol-4-phosphate 5-kinase type 1 gamma ISO ClinVar Annotator: match by term: MULTIPLE CONTRACTURE SYNDROME, ISRAELI BEDOUIN TYPE B
ClinVar Annotator: match by OMIM:611369
OMIM
ClinVar
PMID:17701898 PMID:25741868 NCBI chr 7:8,397,406...8,426,030
Ensembl chr 7:8,397,406...8,425,988
JBrowse link
lethal restrictive dermopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fst follistatin ISS OMIM:275210 MouseDO NCBI chr 2:46,123,260...46,130,584
Ensembl chr 2:46,123,439...46,130,571
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Lethal tight skin contracture syndrome
ClinVar Annotator: match by term: Fetal hypokinesia sequence due to restrictive dermopathy
ClinVar Annotator: match by OMIM:275210
OMIM
ClinVar
PMID:10612827 PMID:10655060 PMID:11503164 PMID:11799477 PMID:12629077 More... NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
JBrowse link
G Slc27a4 solute carrier family 27 member 4 ISS OMIM:275210 MouseDO NCBI chr 3:13,075,022...13,087,943
Ensembl chr 3:13,075,022...13,087,943
JBrowse link
G Zmpste24 zinc metallopeptidase STE24 ISO ClinVar Annotator: match by term: Lethal tight skin contracture syndrome
ClinVar Annotator: match by term: Fetal hypokinesia sequence due to restrictive dermopathy
ClinVar Annotator: match by OMIM:275210
DNA:duplication:exon:c.591dupT (human)
OMIM
ClinVar
RGD
PMID:3840649 PMID:8152880 PMID:12913070 PMID:15317753 PMID:15843403 More... RGD:10043097 NCBI chr 5:134,627,218...134,660,360
Ensembl chr 5:134,627,229...134,660,110
JBrowse link
Marden-Walker Syndrome term browser
Symbol Object Name Qualifiers 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: Marden-Walker syndrome
ClinVar Annotator: match by OMIM:248700
OMIM
ClinVar
PMID:24726473 PMID:25741868 NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216
JBrowse link
Miles-Carpenter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zc4h2 zinc finger C4H2-type containing ISO ClinVar Annotator: match by term: Miles-Carpenter syndrome
ClinVar Annotator: match by term: Wieacker-Wolff syndrome
ClinVar Annotator: match by term: Wieacker Wolff syndrome
ClinVar Annotator: match by term: MILES-CARPENTER X-LINKED MENTAL RETARDATION SYNDROME
ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, WITH CONGENITAL CONTRACTURES AND LOW FINGERTIP ARCHES
ClinVar Annotator: match by term: Wieacker syndrome
OMIM
ClinVar
PMID:1915520 PMID:2018061 PMID:4039531 PMID:9536098 PMID:17576681 More... NCBI chr  X:60,525,706...60,546,519
Ensembl chr  X:60,525,712...60,546,488
JBrowse link
proximal myopathy and ophthalmoplegia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fancg FA complementation group G ISO ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant
ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia
ClinVar PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 5:57,230,287...57,240,067
Ensembl chr 5:57,231,685...57,240,029
JBrowse link
G Gas7 growth arrest specific 7 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:52,152,728...52,383,276
Ensembl chr10:52,152,493...52,383,276
JBrowse link
G Glp2r glucagon-like peptide 2 receptor ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:52,402,748...52,465,908
Ensembl chr10:52,402,748...52,466,012
JBrowse link
G Myh1 myosin heavy chain 1 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:51,885,913...51,909,699
Ensembl chr10:51,885,913...51,946,295
JBrowse link
G Myh13 myosin heavy chain 13 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:52,012,779...52,068,960
Ensembl chr10:52,009,425...52,068,951
JBrowse link
G Myh2 myosin heavy chain 2 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia
ClinVar Annotator: match by term: Inclusion body myopathy 3
ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant
OMIM
ClinVar
PMID:9536098 PMID:11114175 PMID:11889243 PMID:15548556 PMID:15741996 More... NCBI chr10:51,856,738...51,883,236
Ensembl chr10:51,856,738...51,883,236
JBrowse link
G Myh8 myosin heavy chain 8 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:51,963,510...51,993,103
Ensembl chr10:51,963,510...51,993,232
JBrowse link
G Rcvrn recoverin ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:52,388,706...52,396,454
Ensembl chr10:52,388,706...52,396,453
JBrowse link
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant ClinVar PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571
JBrowse link
stiff skin syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Stiff skin syndrome
ClinVar Annotator: match by OMIM:184900
OMIM
ClinVar
PMID:1852208 PMID:2005308 PMID:3495735 PMID:3536967 PMID:4750422 More... NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
JBrowse link
Van den Ende-Gupta syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scarf2 scavenger receptor class F, member 2 ISO ClinVar Annotator: match by term: Van den Ende-Gupta syndrome
ClinVar Annotator: match by term: Marden Walker like syndrome
ClinVar Annotator: match by OMIM:600920
OMIM
ClinVar
PMID:20887961 PMID:21108395 PMID:23808541 PMID:24478002 PMID:25741868 More... NCBI chr11:83,175,956...83,187,415
Ensembl chr11:83,175,963...83,187,348
JBrowse link
Warburg-Cinotti Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddr2 discoidin domain receptor tyrosine kinase 2 ISO ClinVar Annotator: match by term: Warburg-Cinotti syndrome ClinVar
OMIM
PMID:17103436 PMID:23637089 PMID:25741868 PMID:28492532 PMID:30449416 NCBI chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363
JBrowse link
WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zc3h12b zinc finger CCCH-type containing 12B ISO ClinVar Annotator: match by term: Wieacker-Wolff syndrome, female-restricted ClinVar PMID:25741868 NCBI chr  X:60,615,616...60,849,278
Ensembl chr  X:60,615,682...60,844,832
JBrowse link
G Zc4h2 zinc finger C4H2-type containing ISO ClinVar Annotator: match by term: WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED
ClinVar Annotator: match by term: Wieacker-Wolff syndrome, female-restricted
ClinVar
OMIM
PMID:23623388 PMID:25741868 PMID:28814648 PMID:31206972 NCBI chr  X:60,525,706...60,546,519
Ensembl chr  X:60,525,712...60,546,488
JBrowse link
Winchester syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp14 matrix metallopeptidase 14 ISO ClinVar Annotator: match by term: Winchester syndrome ClinVar
OMIM
PMID:4238825 PMID:22922033 PMID:25741868 NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864
JBrowse link
X-linked Emery-Dreifuss muscular dystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked ClinVar PMID:28492532 NCBI chr  X:151,428,334...151,450,115
Ensembl chr  X:151,428,578...151,450,115
JBrowse link
G Arhgap4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked ClinVar PMID:28492532 NCBI chr  X:151,636,071...151,651,528
Ensembl chr  X:151,632,454...151,651,128
JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked ClinVar PMID:28492532 NCBI chr  X:151,633,501...151,636,000
Ensembl chr  X:151,633,522...151,635,989
JBrowse link
G Dnase1l1 deoxyribonuclease 1-like 1 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked ClinVar PMID:28492532 NCBI chr  X:152,056,942...152,065,518
Ensembl chr  X:152,056,942...152,065,518
JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked ClinVar
OMIM
PMID:7894480 PMID:8589715 PMID:8595406 PMID:8595407 PMID:8595433 More... NCBI chr  X:152,038,990...152,042,190
Ensembl chr  X:152,038,998...152,045,807
JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked ClinVar PMID:16080119 PMID:23169761 PMID:28492532 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052
JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked ClinVar PMID:28492532 NCBI chr  X:151,687,779...151,712,688
Ensembl chr  X:151,687,779...151,712,638
JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked ClinVar PMID:28492532 NCBI chr  X:151,515,244...151,524,175
Ensembl chr  X:151,515,247...151,524,171
JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked ClinVar PMID:28492532 NCBI chr  X:151,768,621...151,778,521
Ensembl chr  X:151,768,777...151,778,521
JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked ClinVar PMID:28492532 NCBI chr  X:151,597,270...151,623,776
Ensembl chr  X:151,597,277...151,623,857
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures ClinVar PMID:12376891 PMID:12467752 PMID:12920062 PMID:14597414 PMID:15140538 More... NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked ClinVar PMID:28492532 NCBI chr  X:151,781,177...151,844,687
Ensembl chr  X:151,789,930...151,844,689
JBrowse link
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked ClinVar PMID:28492532 NCBI chr  X:151,656,056...151,661,304
Ensembl chr  X:151,656,056...151,661,252
JBrowse link
G Opn1mw opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked ClinVar PMID:28492532 NCBI chr  X:151,905,096...151,925,322
Ensembl chr  X:151,905,096...151,925,388
JBrowse link
G Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked ClinVar PMID:28492532 NCBI chr  X:151,530,390...151,560,779
Ensembl chr  X:151,530,390...151,560,826
JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked ClinVar PMID:28492532 NCBI chr  X:151,493,832...151,508,688
Ensembl chr  X:151,494,207...151,508,674
JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked ClinVar PMID:28492532 NCBI chr  X:151,661,463...151,670,538
Ensembl chr  X:151,661,458...151,670,516
JBrowse link
G Rpl10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked ClinVar PMID:28492532 NCBI chr  X:152,054,547...152,056,757
Ensembl chr  X:152,054,452...152,056,761
JBrowse link
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked ClinVar PMID:28492532 NCBI chr  X:151,510,452...151,515,208
Ensembl chr  X:151,510,539...151,515,198
JBrowse link
G Ssr4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked ClinVar PMID:28492532 NCBI chr  X:151,524,191...151,528,218
Ensembl chr  X:151,524,009...151,528,202
JBrowse link
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked ClinVar PMID:28492532 NCBI chr  X:152,065,539...152,076,178
Ensembl chr  X:152,065,609...152,074,001
JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked ClinVar PMID:28492532 NCBI chr  X:151,922,210...151,955,902
Ensembl chr  X:151,925,526...151,954,567
JBrowse link
G Tktl1 transketolase-like 1 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked ClinVar PMID:28492532 NCBI chr  X:151,954,261...151,987,208
Ensembl chr  X:151,954,175...151,987,208
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17445
    disease of anatomical entity 16777
      musculoskeletal system disease 6486
        muscular disease 1291
          Contracture 93
            Aase Smith Syndrome 0
            Alopecia Contractures Dwarfism Mental Retardation 0
            Axial Mesodermal Dysplasia Spectrum 0
            Bethlem myopathy + 8
            Bone Fragility with Contractures, Arterial Rupture, and Deafness 1
            Bowen Syndrome 0
            CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY 1
            Camptodactyly Joint Contractures and Facial Skeletal Dysplasia 0
            Congenital Contractures, Torticollis, and Malignant Hyperthermia 0
            Congenital Ectodermal Dysplasia with Hearing Loss 0
            Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndromes + 1
            Davenport Donlan Syndrome 0
            Dupuytren Contracture + 0
            Dystonia with Ringbinden 0
            Erosive Arthropathy 0
            Growth Deficiency and Mental Retardation with Facial Dysmorphism 4
            Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 0
            Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis 0
            Hip Contracture 1
            Iida Kannari Syndrome 0
            Macleod Fraser syndrome 0
            Marden-Walker Syndrome 1
            Mental Retardation Mietens Weber Type 0
            Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism 0
            Miles-Carpenter syndrome + 2
            Multiple Pterygium Syndrome, X-Linked 0
            Rozin Hertz Goodman Syndrome 0
            Spondylospinal Thoracic Dysostosis 0
            Van den Ende-Gupta syndrome 1
            Volkmann contracture 0
            Warburg-Cinotti Syndrome 1
            Winchester syndrome 1
            Winter Harding Hyde Syndrome 0
            X-linked Emery-Dreifuss muscular dystrophy 1 23
            congenital contractural arachnodactyly 1
            hereditary spastic paraplegia 18 1
            histiocytosis-lymphadenopathy plus syndrome 1
            lethal congenital contracture syndrome 3 1
            lethal restrictive dermopathy 4
            plantar fascial fibromatosis 0
            proximal myopathy and ophthalmoplegia 9
            stiff skin syndrome 1
Path 2
Term Annotations click to browse term
  disease 17445
    disease of anatomical entity 16777
      nervous system disease 12215
        peripheral nervous system disease 2586
          neuropathy 2377
            neuromuscular disease 1890
              muscular disease 1291
                Contracture 93
                  Aase Smith Syndrome 0
                  Alopecia Contractures Dwarfism Mental Retardation 0
                  Axial Mesodermal Dysplasia Spectrum 0
                  Bethlem myopathy + 8
                  Bone Fragility with Contractures, Arterial Rupture, and Deafness 1
                  Bowen Syndrome 0
                  CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY 1
                  Camptodactyly Joint Contractures and Facial Skeletal Dysplasia 0
                  Congenital Contractures, Torticollis, and Malignant Hyperthermia 0
                  Congenital Ectodermal Dysplasia with Hearing Loss 0
                  Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndromes + 1
                  Davenport Donlan Syndrome 0
                  Dupuytren Contracture + 0
                  Dystonia with Ringbinden 0
                  Erosive Arthropathy 0
                  Growth Deficiency and Mental Retardation with Facial Dysmorphism 4
                  Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 0
                  Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis 0
                  Hip Contracture 1
                  Iida Kannari Syndrome 0
                  Macleod Fraser syndrome 0
                  Marden-Walker Syndrome 1
                  Mental Retardation Mietens Weber Type 0
                  Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism 0
                  Miles-Carpenter syndrome + 2
                  Multiple Pterygium Syndrome, X-Linked 0
                  Rozin Hertz Goodman Syndrome 0
                  Spondylospinal Thoracic Dysostosis 0
                  Van den Ende-Gupta syndrome 1
                  Volkmann contracture 0
                  Warburg-Cinotti Syndrome 1
                  Winchester syndrome 1
                  Winter Harding Hyde Syndrome 0
                  X-linked Emery-Dreifuss muscular dystrophy 1 23
                  congenital contractural arachnodactyly 1
                  hereditary spastic paraplegia 18 1
                  histiocytosis-lymphadenopathy plus syndrome 1
                  lethal congenital contracture syndrome 3 1
                  lethal restrictive dermopathy 4
                  plantar fascial fibromatosis 0
                  proximal myopathy and ophthalmoplegia 9
                  stiff skin syndrome 1
paths to the root