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ONTOLOGY REPORT - ANNOTATIONS


Term:Arthrogryposis
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Accession:DOID:9000338 term browser browse the term
Definition:Persistent flexure or contracture of a joint. 
Synonyms:exact_synonym: Arthrogryposes;   Arthrogryposis Multiplex Congenita;   Arthrogryposis Multiplex Congenita (AMC);   Congenital Arthromyodysplasia;   Congenital Arthromyodysplasias;   Congenital Multiple Arthrogryposes;   Congenital Multiple Arthrogryposis;   Fibrous Ankylosis of Multiple Joints;   Guerin Stern Syndrome;   Guérin Stern Syndrome;   Myodystrophia Fetalis Deformans;   Otto Syndrome;   Rocher Sheldon Syndrome;   Rossi syndrome;   amyoplasia congenita
 primary_id: MESH:D001176
 alt_id: RDO:0000318
For additional species annotation, visit the Alliance of Genome Resources.


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Arthrogryposis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adgrg6 adhesion G protein-coupled receptor G6 JBrowse link 1 8,593,342 8,751,540 RGD:8554872
G Chrng cholinergic receptor nicotinic gamma subunit JBrowse link 9 94,302,218 94,308,591 RGD:11554173
G Ecel1 endothelin converting enzyme-like 1 JBrowse link 9 94,238,568 94,252,484 RGD:8554872
G Ercc6 ERCC excision repair 6, chromatin remodeling factor JBrowse link 16 8,734,028 8,804,610 RGD:11554173
G Kif1b kinesin family member 1B JBrowse link 5 165,994,803 166,133,497 RGD:8554872
G Myh3 myosin heavy chain 3 JBrowse link 10 53,621,375 53,645,194 RGD:8554872
G Myh8 myosin heavy chain 8 JBrowse link 10 53,818,818 53,848,490 RGD:1600548
G Piezo2 piezo-type mechanosensitive ion channel component 2 JBrowse link 18 58,353,361 58,728,555 RGD:8554872
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:8554872
G Sh3tc2 SH3 domain and tetratricopeptide repeats 2 JBrowse link 18 57,286,266 57,403,926 RGD:8554872
G Syne1 spectrin repeat containing nuclear envelope protein 1 JBrowse link 1
1
41,608,287
41,844,840
41,763,591
42,086,662
RGD:13209012
G Tnni2 troponin I2, fast skeletal type JBrowse link 1 215,609,110 215,611,652 RGD:1599481
RGD:8554872
G Tnnt3 troponin T3, fast skeletal type JBrowse link 1 215,666,628 215,683,628 RGD:1599490
RGD:8554872
G Tpm2 tropomyosin 2 JBrowse link 5 59,016,616 59,025,971 RGD:8554872
G Vps33b VPS33B, late endosome and lysosome associated JBrowse link 1 142,060,955 142,083,955 RGD:1599749
ARC syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vipas39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog JBrowse link 6 111,271,283 111,296,013 RGD:11554173
G Vps33b VPS33B, late endosome and lysosome associated JBrowse link 1 142,060,955 142,083,955 RGD:8554872
RGD:11554173
arthrogryposis due to muscular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:8554872
Arthrogryposis Multiplex Congenita, Myogenic Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Esr1 estrogen receptor 1 JBrowse link 1 41,192,029 41,594,799 RGD:8554872
G Syne1 spectrin repeat containing nuclear envelope protein 1 JBrowse link 1
1
41,608,287
41,844,840
41,763,591
42,086,662
RGD:7240710
RGD:8554872
ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scyl2 SCY1 like pseudokinase 2 JBrowse link 7 30,291,087 30,344,464 RGD:8554872
RGD:7240710
ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC, WITH MYELIN DEFECT term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lgi4 leucine-rich repeat LGI family, member 4 JBrowse link 1 89,491,588 89,502,939 RGD:8554872
RGD:7240710
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ppp3ca protein phosphatase 3 catalytic subunit alpha JBrowse link 2 241,909,332 242,186,861 RGD:8554872
RGD:7240710
Arthrogryposis, Mental Retardation, and Seizures term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc35a3 solute carrier family 35 member A3 JBrowse link 2 219,705,618 219,741,886 RGD:7240710
RGD:8554872
ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nek9 NIMA-related kinase 9 JBrowse link 6 109,121,524 109,162,433 RGD:8554872
RGD:7240710
arthrogryposis, renal dysfunction, and cholestasis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vipas39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog JBrowse link 6 111,271,283 111,296,013 RGD:8554872
G Vps33b VPS33B, late endosome and lysosome associated JBrowse link 1 142,060,955 142,083,955 RGD:7240710
RGD:8554872
arthrogryposis, renal dysfunction, and cholestasis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vipas39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog JBrowse link 6 111,271,283 111,296,013 RGD:8554872
RGD:7240710
Bruck syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fkbp10 FKBP prolyl isomerase 10 JBrowse link 10 88,326,337 88,338,199 RGD:13592920
G Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 JBrowse link 8 99,977,334 100,059,736 RGD:13592920
Bruck Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fkbp10 FKBP prolyl isomerase 10 JBrowse link 10 88,326,337 88,338,199 RGD:8554872
RGD:7240710
Bruck Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 JBrowse link 8 99,977,334 100,059,736 RGD:7240710
RGD:8554872
Cerebrooculofacioskeletal Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 80,293,574 80,307,334 RGD:1601070
RGD:8554872
RGD:7240710
Cerebrooculofacioskeletal Syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit JBrowse link 1 80,256,973 80,268,198 RGD:7240710
RGD:8554872
G Polr1g RNA polymerase I subunit G JBrowse link 1 80,267,725 80,271,001 RGD:8554872
Congenital Arthrogryposis with Anterior Horn Cell Disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gle1 GLE1 RNA export mediator JBrowse link 3 8,498,098 8,530,218 RGD:7240710
RGD:8554872
congenital contractural arachnodactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbn2 fibrillin 2 JBrowse link 18 53,068,495 53,272,254 RGD:1300364
RGD:8554872
RGD:7240710
distal arthrogryposis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ecel1 endothelin converting enzyme-like 1 JBrowse link 9 94,238,568 94,252,484 RGD:13592920
G Fbn2 fibrillin 2 JBrowse link 18 53,068,495 53,272,254 RGD:13592920
G Klhl7 kelch-like family member 7 JBrowse link 4 7,532,881 7,582,032 RGD:8554872
G Mybpc1 myosin binding protein C1 JBrowse link 7 29,086,159 29,171,909 RGD:8554872
G Myh3 myosin heavy chain 3 JBrowse link 10 53,621,375 53,645,194 RGD:8554872
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:8554872
G Tnni2 troponin I2, fast skeletal type JBrowse link 1 215,609,110 215,611,652 RGD:8554872
RGD:13592920
G Tnnt3 troponin T3, fast skeletal type JBrowse link 1 215,666,628 215,683,628 RGD:8554872
G Ush2a usherin JBrowse link 13 106,750,738 107,434,195 RGD:8554872
distal arthrogryposis type 1A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cntnap1 contactin associated protein 1 JBrowse link 10 89,087,904 89,103,615 RGD:8554872
G Met MET proto-oncogene, receptor tyrosine kinase JBrowse link 4 44,747,467 44,854,628 RGD:8554872
G Myh3 myosin heavy chain 3 JBrowse link 10 53,621,375 53,645,194 RGD:8554872
G Myh8 myosin heavy chain 8 JBrowse link 10 53,818,818 53,848,490 RGD:8554872
G Tpm2 tropomyosin 2 JBrowse link 5 59,016,616 59,025,971 RGD:7240710
RGD:8554872
distal arthrogryposis type 1B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mybpc1 myosin binding protein C1 JBrowse link 7 29,086,159 29,171,909 RGD:7240710
RGD:8554872
distal arthrogryposis type 2A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh3 myosin heavy chain 3 JBrowse link 10 53,621,375 53,645,194 RGD:7240710
distal arthrogryposis type 2B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh3 myosin heavy chain 3 JBrowse link 10 53,621,375 53,645,194 RGD:8554872
G Tnni2 troponin I2, fast skeletal type JBrowse link 1 215,609,110 215,611,652 RGD:11554173
RGD:8554872
G Tnnt3 troponin T3, fast skeletal type JBrowse link 1 215,666,628 215,683,628 RGD:8554872
G Tpm2 tropomyosin 2 JBrowse link 5 59,016,616 59,025,971 RGD:8554872
distal arthrogryposis type 2B1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh3 myosin heavy chain 3 JBrowse link 10 53,621,375 53,645,194 RGD:12792960
RGD:8554872
G Tnni2 troponin I2, fast skeletal type JBrowse link 1 215,609,110 215,611,652 RGD:7240710
distal arthrogryposis type 2B2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tnnt3 troponin T3, fast skeletal type JBrowse link 1 215,666,628 215,683,628 RGD:8554872
RGD:7240710
distal arthrogryposis type 2B3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh3 myosin heavy chain 3 JBrowse link 10 53,621,375 53,645,194 RGD:7240710
RGD:8554872
Distal Arthrogryposis Type 2B4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tpm2 tropomyosin 2 JBrowse link 5 59,016,616 59,025,971 RGD:8554872
distal arthrogryposis type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Piezo2 piezo-type mechanosensitive ion channel component 2 JBrowse link 18 58,353,361 58,728,555 RGD:7240710
RGD:8554872
distal arthrogryposis type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Piezo2 piezo-type mechanosensitive ion channel component 2 JBrowse link 18 58,353,361 58,728,555 RGD:7240710
RGD:8554872
distal arthrogryposis type 5D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ecel1 endothelin converting enzyme-like 1 JBrowse link 9 94,238,568 94,252,484 RGD:7240710
RGD:8554872
distal arthrogryposis type 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbn2 fibrillin 2 JBrowse link 18 53,068,495 53,272,254 RGD:8554872
G Myh8 myosin heavy chain 8 JBrowse link 10 53,818,818 53,848,490 RGD:7240710
RGD:8554872
RGD:12914760
Distal Arthrogryposis, with Impaired Proprioception and Touch term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Piezo2 piezo-type mechanosensitive ion channel component 2 JBrowse link 18 58,353,361 58,728,555 RGD:8554872
RGD:7240710
Ehlers-Danlos Syndrome, Musculocontractural Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dse dermatan sulfate epimerase JBrowse link 20 27,703,738 27,784,982 RGD:7240710
RGD:8554872
fetal akinesia deformation sequence syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acta1 actin, alpha 1, skeletal muscle JBrowse link 19 56,674,072 56,677,084 RGD:8554872
G Adssl1 adenylosuccinate synthase like 1 JBrowse link 6 137,184,818 137,206,694 RGD:8554872
G Aldh5a1 aldehyde dehydrogenase 5 family, member A1 JBrowse link 17 42,133,076 42,159,413 RGD:8554872
G Asah1 N-acylsphingosine amidohydrolase 1 JBrowse link 16 53,998,604 54,030,006 RGD:8554872
G Ascc1 activating signal cointegrator 1 complex subunit 1 JBrowse link 20 29,558,330 29,648,899 RGD:8554872
G Aspm assembly factor for spindle microtubules JBrowse link 13 56,546,021 56,591,793 RGD:8554872
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 JBrowse link X 157,236,400 157,312,028 RGD:8554872
G Aven apoptosis and caspase activation inhibitor JBrowse link 3 103,980,612 104,117,193 RGD:8554872
G Chrnd cholinergic receptor nicotinic delta subunit JBrowse link 9 94,286,550 94,294,968 RGD:8554872
G Cntnap1 contactin associated protein 1 JBrowse link 10 89,087,904 89,103,615 RGD:8554872
G Dok7 docking protein 7 JBrowse link 14 80,925,409 80,963,454 RGD:8554872
G Dqx1 DEAQ box RNA-dependent ATPase 1 JBrowse link 4 113,890,201 113,899,355 RGD:8554872
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 6 134,958,854 135,085,769 RGD:8554872
G Ears2 glutamyl-tRNA synthetase 2, mitochondrial JBrowse link 1 191,997,512 192,025,350 RGD:8554872
G Fbln1 fibulin 1 JBrowse link 7 126,096,793 126,176,468 RGD:8554872
G Gbe1 1,4-alpha-glucan branching enzyme 1 JBrowse link 11 7,210,169 7,485,895 RGD:8554872
G Gcn1 GCN1 activator of EIF2AK4 JBrowse link 12 46,728,684 46,789,696 RGD:8554872
G Gfra4 GDNF family receptor alpha 4 JBrowse link 3 123,573,394 123,582,431 RGD:8554872
G Gldn gliomedin JBrowse link 8 58,870,516 58,914,605 RGD:8554872
G Iqsec3 IQ motif and Sec7 domain ArfGEF 3 JBrowse link 4 153,948,052 154,044,493 RGD:8554872
G Lgi4 leucine-rich repeat LGI family, member 4 JBrowse link 1 89,491,588 89,502,939 RGD:8554872
G Magi3 membrane associated guanylate kinase, WW and PDZ domain containing 3 JBrowse link 2 206,499,467 206,699,105 RGD:8554872
G Musk muscle associated receptor tyrosine kinase JBrowse link 5 75,392,790 75,498,694 RGD:8554872
RGD:7240710
G Naga alpha-N-acetylgalactosaminidase JBrowse link 7 123,563,047 123,572,074 RGD:8554872
G Nalcn sodium leak channel, non-selective JBrowse link 15 109,734,092 110,046,729 RGD:8554872
G Piezo2 piezo-type mechanosensitive ion channel component 2 JBrowse link 18 58,353,361 58,728,555 RGD:8554872
G Prg4 proteoglycan 4 JBrowse link 13 67,672,588 67,688,902 RGD:8554872
G Prickle1 prickle planar cell polarity protein 1 JBrowse link 7 134,702,964 134,799,437 RGD:8554872
G Rapsn receptor-associated protein of the synapse JBrowse link 3 79,859,815 79,869,486 RGD:8554872
G RGD1307100 similar to RIKEN cDNA D630029K19 JBrowse link 2 123,555,742 123,766,675 RGD:8554872
G Ror2 receptor tyrosine kinase-like orphan receptor 2 JBrowse link 17 11,953,552 12,134,386 RGD:8554872
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:8554872
G Ryr3 ryanodine receptor 3 JBrowse link 3 104,117,307 104,665,151 RGD:8554872
G Scn4a sodium voltage-gated channel alpha subunit 4 JBrowse link 10 94,505,026 94,557,803 RGD:8554872
G Scn5a sodium voltage-gated channel alpha subunit 5 JBrowse link 8 128,169,191 128,266,681 RGD:8554872
G Scn8a sodium voltage-gated channel alpha subunit 8 JBrowse link 7 142,575,629 142,683,659 RGD:8554872
G Setbp1 SET binding protein 1 JBrowse link 18 75,090,733 75,432,446 RGD:8554872
G Spag16 sperm associated antigen 16 JBrowse link 9 77,027,626 77,833,476 RGD:8554872
G Tmpo thymopoietin JBrowse link 7 31,847,412 31,872,416 RGD:8554872
G Unc50 unc-50 inner nuclear membrane RNA binding protein JBrowse link 9 44,024,994 44,032,896 RGD:8554872
G Vps13d vacuolar protein sorting 13 homolog D JBrowse link 5 162,891,451 163,119,239 RGD:8554872
G Zeb2 zinc finger E-box binding homeobox 2 JBrowse link 3 29,857,289 29,985,932 RGD:8554872
fetal akinesia deformation sequence syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rapsn receptor-associated protein of the synapse JBrowse link 3 79,859,815 79,869,486 RGD:7240710
RGD:8554872
fetal akinesia deformation sequence syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dok7 docking protein 7 JBrowse link 14 80,925,409 80,963,454 RGD:7240710
RGD:8554872
fetal akinesia deformation sequence syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nup88 nucleoporin 88 JBrowse link 10 57,581,828 57,606,171 RGD:7240710
RGD:8554872
Freeman-Sheldon syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh3 myosin heavy chain 3 JBrowse link 10 53,621,375 53,645,194 RGD:8554872
RGD:11554173
hereditary neuropathy with liability to pressure palsies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:8554872
G Pmp22 peripheral myelin protein 22 JBrowse link 10 49,538,588 49,568,583 RGD:7240710
RGD:8554872
Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nalcn sodium leak channel, non-selective JBrowse link 15 109,734,092 110,046,729 RGD:8554872
lethal congenital contracture syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gle1 GLE1 RNA export mediator JBrowse link 3 8,498,098 8,530,218 RGD:8554872
lethal congenital contracture syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gle1 GLE1 RNA export mediator JBrowse link 3 8,498,098 8,530,218 RGD:7240710
RGD:8554872
RGD:11554173
Lethal Congenital Contracture Syndrome 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nek9 NIMA-related kinase 9 JBrowse link 6 109,121,524 109,162,433 RGD:8554872
RGD:7240710
Lethal Congenital Contracture Syndrome 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gldn gliomedin JBrowse link 8 58,870,516 58,914,605 RGD:8554872
RGD:7240710
lethal congenital contracture syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Erbb3 erb-b2 receptor tyrosine kinase 3 JBrowse link 7 2,989,202 3,010,610 RGD:7240710
RGD:8554872
lethal congenital contracture syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pip5k1c phosphatidylinositol-4-phosphate 5-kinase type 1 gamma JBrowse link 7 11,267,207 11,294,291 RGD:7240710
RGD:8554872
lethal congenital contracture syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mybpc1 myosin binding protein C1 JBrowse link 7 29,086,159 29,171,909 RGD:7240710
RGD:8554872
Lethal Congenital Contracture Syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnm2 dynamin 2 JBrowse link 8 22,458,869 22,540,649 RGD:7240710
RGD:8554872
Lethal Congenital Contracture Syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zbtb42 zinc finger and BTB domain containing 42 JBrowse link 6 137,238,899 137,247,115 RGD:7240710
RGD:8554872
Lethal Congenital Contracture Syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cntnap1 contactin associated protein 1 JBrowse link 10 89,087,904 89,103,615 RGD:8554872
RGD:7240710
Lethal Congenital Contracture Syndrome 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adcy6 adenylate cyclase 6 JBrowse link 7 140,270,678 140,291,722 RGD:8554872
RGD:7240710
G Tex49 testis expressed 49 JBrowse link 7 140,248,852 140,270,340 RGD:8554872
Lethal Congenital Contracture Syndrome 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adgrg6 adhesion G protein-coupled receptor G6 JBrowse link 1 8,593,342 8,751,540 RGD:8554872
RGD:7240710
Multiple Pterygium Syndrome, Lethal Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit JBrowse link 3 60,445,657 60,460,724 RGD:7240710
RGD:8554872
G Chrnd cholinergic receptor nicotinic delta subunit JBrowse link 9 94,286,550 94,294,968 RGD:7240710
RGD:8554872
G Chrng cholinergic receptor nicotinic gamma subunit JBrowse link 9 94,302,218 94,308,591 RGD:7240710
RGD:8554872
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smpd4 sphingomyelin phosphodiesterase 4 JBrowse link 11 87,522,971 87,546,687 RGD:7240710
RGD:8554872
neurogenic arthrogryposis multiplex congenita term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ergic1 endoplasmic reticulum-golgi intermediate compartment 1 JBrowse link 10 16,821,393 16,912,050 RGD:8554872
RGD:7240710
G Lgi4 leucine-rich repeat LGI family, member 4 JBrowse link 1 89,491,588 89,502,939 RGD:8554872
POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pi4ka phosphatidylinositol 4-kinase alpha JBrowse link 11 87,858,323 87,975,549 RGD:8554872
RGD:7240710
Schaaf-Yang syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyfip1 cytoplasmic FMR1 interacting protein 1 JBrowse link 1 114,258,773 114,347,138 RGD:11558012
G Magel2 MAGE family member L2 JBrowse link 1 123,015,404 123,019,945 RGD:7240710
RGD:8554872
G Sim1 SIM bHLH transcription factor 1 JBrowse link 20 55,590,810 55,674,002 RGD:8554872
X-linked spinal muscular atrophy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Uba1 ubiquitin-like modifier activating enzyme 1 JBrowse link X 1,723,135 1,745,147 RGD:7240710
RGD:8554872
G Zc4h2 zinc finger C4H2-type containing JBrowse link X 64,887,978 64,908,682 RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15984
    disease of anatomical entity 15262
      musculoskeletal system disease 5527
        muscular disease 1121
          Arthrogryposis 91
            ARC syndrome + 2
            ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY 1
            Arthrogryposis Epileptic Seizures Migrational Brain Disorder 0
            Arthrogryposis Multiplex Congenita Whistling Face 0
            Arthrogryposis Multiplex Congenita, Myogenic Type 2
            Arthrogryposis Multiplex with Deafness, Inguinal Hernias, and Early Death 0
            Arthrogryposis and Ectodermal Dysplasia 0
            Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development 1
            Arthrogryposis, Mental Retardation, and Seizures 1
            Arthrogryposis, X-Linked, Type V 0
            Boylan Dew Greco Syndrome 0
            Bruck syndrome + 2
            CAP-Congenital Myopathy with Arthrogryposis Multiplex Congenita without Heart Involvement 0
            Camptodactyly-Ichthyosis Syndrome 0
            Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome 0
            Cerebrooculofacioskeletal Syndrome 2 1
            Cerebrooculofacioskeletal Syndrome 4 2
            Congenital Arthrogryposis with Anterior Horn Cell Disease 1
            Congenital Neuropathy with Arthrogryposis Multiplex 0
            Cyprus Facial Neuromusculoskeletal Syndrome 0
            Ehlers-Danlos Syndrome, Musculocontractural Type 2 1
            German Syndrome 0
            Holoprosencephaly with Fetal Akinesia/Hypokinesia Sequence 0
            Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis 1
            Jequier Kozlowski Skeletal Dysplasia 0
            Johnston Aarons Schelley Syndrome 0
            Ladda Zonana Ramer syndrome 0
            Massa Casaer Ceulemans Syndrome 0
            Minicore Myopathy, Antenatal Onset, with Arthrogryposis 0
            Multiple Pterygium Syndrome, Lethal Type 3
            NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES 1
            POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS 1
            Pelvic Dysplasia Arthrogryposis of Lower Limbs 0
            Podder-Tolmie Syndrome 0
            Ray Peterson Scott Syndrome 0
            Spondylohypoplasia, Arthrogryposis and Popliteal Pterygium 0
            Spranger Schinzel Myers Syndrome 0
            arthrogryposis due to muscular dystrophy 1
            distal arthrogryposis + 19
            fetal akinesia deformation sequence syndrome + 43
            hereditary neuropathy with liability to pressure palsies 2
            lethal congenital contracture syndrome + 12
            neurogenic arthrogryposis multiplex congenita + 3
Path 2
Term Annotations click to browse term
  disease 15984
    disease of anatomical entity 15262
      nervous system disease 10752
        peripheral nervous system disease 2360
          neuropathy 2175
            neuromuscular disease 1707
              muscular disease 1121
                Arthrogryposis 91
                  ARC syndrome + 2
                  ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY 1
                  Arthrogryposis Epileptic Seizures Migrational Brain Disorder 0
                  Arthrogryposis Multiplex Congenita Whistling Face 0
                  Arthrogryposis Multiplex Congenita, Myogenic Type 2
                  Arthrogryposis Multiplex with Deafness, Inguinal Hernias, and Early Death 0
                  Arthrogryposis and Ectodermal Dysplasia 0
                  Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development 1
                  Arthrogryposis, Mental Retardation, and Seizures 1
                  Arthrogryposis, X-Linked, Type V 0
                  Boylan Dew Greco Syndrome 0
                  Bruck syndrome + 2
                  CAP-Congenital Myopathy with Arthrogryposis Multiplex Congenita without Heart Involvement 0
                  Camptodactyly-Ichthyosis Syndrome 0
                  Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome 0
                  Cerebrooculofacioskeletal Syndrome 2 1
                  Cerebrooculofacioskeletal Syndrome 4 2
                  Congenital Arthrogryposis with Anterior Horn Cell Disease 1
                  Congenital Neuropathy with Arthrogryposis Multiplex 0
                  Cyprus Facial Neuromusculoskeletal Syndrome 0
                  Ehlers-Danlos Syndrome, Musculocontractural Type 2 1
                  German Syndrome 0
                  Holoprosencephaly with Fetal Akinesia/Hypokinesia Sequence 0
                  Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis 1
                  Jequier Kozlowski Skeletal Dysplasia 0
                  Johnston Aarons Schelley Syndrome 0
                  Ladda Zonana Ramer syndrome 0
                  Massa Casaer Ceulemans Syndrome 0
                  Minicore Myopathy, Antenatal Onset, with Arthrogryposis 0
                  Multiple Pterygium Syndrome, Lethal Type 3
                  NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES 1
                  POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS 1
                  Pelvic Dysplasia Arthrogryposis of Lower Limbs 0
                  Podder-Tolmie Syndrome 0
                  Ray Peterson Scott Syndrome 0
                  Spondylohypoplasia, Arthrogryposis and Popliteal Pterygium 0
                  Spranger Schinzel Myers Syndrome 0
                  arthrogryposis due to muscular dystrophy 1
                  distal arthrogryposis + 19
                  fetal akinesia deformation sequence syndrome + 43
                  hereditary neuropathy with liability to pressure palsies 2
                  lethal congenital contracture syndrome + 12
                  neurogenic arthrogryposis multiplex congenita + 3
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.