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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:Arthrogryposis
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Accession:DOID:9000338 term browser browse the term
Definition:Persistent flexure or contracture of a joint. 
Synonyms:exact_synonym: 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;   arthrogryposes
 primary_id: MESH:D001176
 xref: OMIM:PS617468
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Arthrogryposis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg6 adhesion G protein-coupled receptor G6 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:26004201, PMID:26752647 NCBI chr 1:8,593,342...8,751,540
Ensembl chr 1:8,593,075...8,751,198
JBrowse link
G Chrng cholinergic receptor nicotinic gamma subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:16826520, PMID:16826531 NCBI chr 9:94,302,218...94,308,591 JBrowse link
G Ecel1 endothelin converting enzyme-like 1 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:23236030, PMID:23261301, PMID:24782201, PMID:25099528, PMID:25708584, PMID:25741868 NCBI chr 9:94,238,568...94,252,484
Ensembl chr 9:94,239,006...94,250,809
JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18628313 NCBI chr16:8,734,028...8,804,610
Ensembl chr16:8,734,035...8,804,610
JBrowse link
G Foxg1 forkhead box G1 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:30311386 NCBI chr 6:69,971,227...69,974,037
Ensembl chr 6:69,971,227...69,974,037
JBrowse link
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Guérin-Stern syndrome ClinVar PMID:25741868, PMID:30311386 NCBI chr 5:165,994,803...166,133,497
Ensembl chr 5:165,938,576...166,133,491
JBrowse link
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:25741868 NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
JBrowse link
G Myh8 myosin heavy chain 8 ISO Carney complex variant, OMIM:608837, DNA:point mutation:exon:R674Q RGD PMID:15282353 RGD:1600548 NCBI chr10:53,818,818...53,848,490
Ensembl chr10:53,818,818...53,918,524
JBrowse link
G Myod1 myogenic differentiation 1 ISO ClinVar Annotator: match by term: Arthrogryposis ClinVar PMID:31260566 NCBI chr 1:102,396,538...102,399,248
Ensembl chr 1:102,396,538...102,399,248
JBrowse link
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Arthrogryposis ClinVar PMID:8423615, PMID:11152147, PMID:17345626, PMID:19571066, PMID:23487782, PMID:24649842, PMID:24726473, PMID:25712306, PMID:25741868, PMID:27607563, PMID:27653382, PMID:27714920, PMID:27912047, PMID:31680123 NCBI chr18:58,353,361...58,728,555
Ensembl chr18:58,354,648...58,499,836
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:20839240, PMID:21911697, PMID:22473935, PMID:25658027, PMID:25735680, PMID:25741868, PMID:28492532, PMID:30311386, PMID:31680123 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
JBrowse link
G Sh3tc2 SH3 domain and tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Guérin-Stern syndrome ClinVar PMID:20220177, PMID:21291453, PMID:25741868, PMID:26392352, PMID:26794302, PMID:28492532, PMID:30311386 NCBI chr18:57,286,266...57,403,926
Ensembl chr18:57,286,322...57,347,577
JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO DNA:mutation:splice junction: RGD PMID:19542096 RGD:13209012 NCBI chr 1:41,608,287...41,763,591
NCBI chr 1:41,844,840...42,086,662
Ensembl chr 1:41,608,418...42,077,535
JBrowse link
G Tnni2 troponin I2, fast skeletal type ISO distal arthrogryposis type 2B, OMIM:601680
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal
ClinVar PMID:25741868, PMID:12592607 RGD:1599481 NCBI chr 1:215,609,110...215,611,652
Ensembl chr 1:215,609,036...215,611,658
JBrowse link
G Tnnt3 troponin T3, fast skeletal type ISO distal arthrogryposis type 2B, OMIM:601680
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita
ClinVar PMID:25741868, PMID:28492532, PMID:12865991 RGD:1599490 NCBI chr 1:215,666,628...215,683,628
Ensembl chr 1:215,666,628...215,683,628
JBrowse link
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita ClinVar PMID:11738357, PMID:23757202, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 5:59,016,616...59,025,971
Ensembl chr 5:59,016,622...59,025,631
JBrowse link
G Vps33b VPS33B, late endosome and lysosome associated ISO ARC syndrome, OMIM:208085 RGD PMID:15052268 RGD:1599749 NCBI chr 1:142,060,955...142,083,955
Ensembl chr 1:142,060,955...142,083,953
JBrowse link
ARC syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vipas39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:20190753 NCBI chr 6:111,271,283...111,296,013
Ensembl chr 6:111,271,240...111,295,994
JBrowse link
G Vps33b VPS33B, late endosome and lysosome associated ISO ClinVar Annotator: match by term: Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:25741868 NCBI chr 1:142,060,955...142,083,955
Ensembl chr 1:142,060,955...142,083,953
JBrowse link
arthrogryposis due to muscular dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Muscular dystrophy and arthrogryposis ClinVar PMID:22526018, PMID:24195946, PMID:25741868, PMID:28492532, PMID:30611313 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
JBrowse link
Arthrogryposis Multiplex Congenita 3, Myogenic Type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Esr1 estrogen receptor 1 ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, MYOGENIC TYPE ClinVar PMID:27782104 NCBI chr 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796
JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, MYOGENIC TYPE OMIM
ClinVar
PMID:19542096, PMID:24319099, PMID:26467025, PMID:27782104 NCBI chr 1:41,608,287...41,763,591
NCBI chr 1:41,844,840...42,086,662
Ensembl chr 1:41,608,418...42,077,535
JBrowse link
Arthrogryposis Multiplex Congenita 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tor1a torsin family 1, member A ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 ClinVar
OMIM
PMID:25741868, PMID:28516161, PMID:29053766, PMID:30244176 NCBI chr 3:9,800,322...9,807,318
Ensembl chr 3:9,800,322...9,807,328
JBrowse link
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp3ca protein phosphatase 3 catalytic subunit alpha ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT ClinVar
OMIM
PMID:29432562 NCBI chr 2:241,909,332...242,186,861
Ensembl chr 2:241,909,832...242,184,854
JBrowse link
Arthrogryposis, Mental Retardation, and Seizures term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc35a3 solute carrier family 35 member A3 ISO ClinVar Annotator: match by term: Arthrogryposis, mental retardation, and seizures
ClinVar Annotator: match by OMIM:615553
OMIM
ClinVar
PMID:24031089, PMID:25741868, PMID:28492532, PMID:28777481 NCBI chr 2:219,705,618...219,741,886
Ensembl chr 2:219,705,620...219,741,886
JBrowse link
ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nek9 NIMA-related kinase 9 ISO ClinVar Annotator: match by term: Arthrogryposis, perthes disease, and upward gaze palsy ClinVar
OMIM
PMID:26633546 NCBI chr 6:109,121,524...109,162,433
Ensembl chr 6:109,124,330...109,162,267
JBrowse link
arthrogryposis, renal dysfunction, and cholestasis 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vipas39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog ISO ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 ClinVar PMID:25741868, PMID:31319225 NCBI chr 6:111,271,283...111,296,013
Ensembl chr 6:111,271,240...111,295,994
JBrowse link
G Vps33b VPS33B, late endosome and lysosome associated ISO ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 OMIM
ClinVar
PMID:8151641, PMID:11668108, PMID:15052268, PMID:16896922, PMID:17994566, PMID:18853461, PMID:19274792, PMID:21851503, PMID:22753090, PMID:24782640, PMID:24917129, PMID:25741868, PMID:28492532, PMID:31479177 NCBI chr 1:142,060,955...142,083,955
Ensembl chr 1:142,060,955...142,083,953
JBrowse link
arthrogryposis, renal dysfunction, and cholestasis 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vipas39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog ISO ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 2 ClinVar
OMIM
PMID:20190753, PMID:25741868, PMID:28492532 NCBI chr 6:111,271,283...111,296,013
Ensembl chr 6:111,271,240...111,295,994
JBrowse link
Bruck syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fkbp10 FKBP prolyl isomerase 10 ISS OMIM:259450 | OMIM:609220 MouseDO NCBI chr10:88,326,337...88,338,199
Ensembl chr10:88,326,080...88,338,207
JBrowse link
G Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 ISS OMIM:259450 | OMIM:609220 MouseDO NCBI chr 8:99,977,334...100,059,736
Ensembl chr 8:99,977,334...100,059,736
JBrowse link
Bruck Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fkbp10 FKBP prolyl isomerase 10 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Bruck syndrome 1
ClinVar Annotator: match by term: Kuskokwim disease
ClinVar Annotator: match by OMIM:259450
ClinVar
OMIM
PMID:9129737, PMID:9481655, PMID:9927692, PMID:20362275, PMID:20696291, PMID:20839288, PMID:21567934, PMID:22949511, PMID:23712425, PMID:25741868 NCBI chr10:88,326,337...88,338,199
Ensembl chr10:88,326,080...88,338,207
JBrowse link
Bruck Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 ISO ClinVar Annotator: match by term: Bruck syndrome 2
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:609220
OMIM
ClinVar
PMID:12881513, PMID:15523624, PMID:22689593, PMID:25086671, PMID:25741868, PMID:28492532 NCBI chr 8:99,977,334...100,059,736
Ensembl chr 8:99,977,334...100,059,736
JBrowse link
Cerebrooculofacioskeletal Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO DNA:missense mutations:p.R616W, p.D681N (human)
ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2
ClinVar Annotator: match by OMIM:610756
ClinVar
OMIM
PMID:7585650, PMID:7920640, PMID:8571952, PMID:9101292, PMID:9238033, PMID:11156600, PMID:11443545, PMID:11710928, PMID:12820975, PMID:15494306, PMID:18470933, PMID:18603627, PMID:18628313, PMID:18637129, PMID:20944642, PMID:22826098, PMID:23221806, PMID:23232694, PMID:23800062, PMID:24033266, PMID:24252196, PMID:24448499, PMID:24728327, PMID:25620205, PMID:25716912, PMID:25741868, PMID:26556299, PMID:27004399, PMID:27745642, PMID:29478780, PMID:11443545 RGD:1601070 NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
JBrowse link
Cerebrooculofacioskeletal Syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit ISO ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 4
ClinVar Annotator: match by OMIM:610758
OMIM
ClinVar
PMID:17273966, PMID:23623389, PMID:25741868, PMID:28492532 NCBI chr 1:80,256,973...80,268,198
Ensembl chr 1:80,256,973...80,268,198
JBrowse link
G Polr1g RNA polymerase I subunit G ISO ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 4 ClinVar PMID:25741868, PMID:28492532 NCBI chr 1:80,267,725...80,271,001
Ensembl chr 1:80,267,725...80,271,001
JBrowse link
Congenital Arthrogryposis with Anterior Horn Cell Disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gle1 GLE1 RNA export mediator ISO ClinVar Annotator: match by term: Lethal arthrogryposis with anterior horn cell disease
ClinVar Annotator: match by OMIM:611890
OMIM
ClinVar
PMID:3993672, PMID:7770128, PMID:16892327, PMID:18204449, PMID:23421748, PMID:24243016, PMID:24961629, PMID:25343993, PMID:25741868, PMID:27684565, PMID:28492532, PMID:28657126, PMID:28884921, PMID:29899397 NCBI chr 3:8,498,098...8,530,218
Ensembl chr 3:8,498,122...8,526,771
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: Beals-Hecht syndrome
ClinVar Annotator: match by term: Congenital contractural arachnodactyly
ClinVar Annotator: match by OMIM:121050
ClinVar Annotator: match by null
ClinVar
OMIM
PMID:3495735, PMID:4750422, PMID:7493032, PMID:7633409, PMID:8653794, PMID:8900230, PMID:9106527, PMID:9199560, PMID:9737771, PMID:10612827, PMID:10797416, PMID:11285249, PMID:11470817, PMID:11754102, PMID:15121784, PMID:16531736, PMID:16677079, PMID:16835936, PMID:17345643, PMID:17935258, PMID:18414213, PMID:18767143, PMID:19006240, PMID:20301560, PMID:20799338, PMID:22325249, PMID:23148498, PMID:24033266, PMID:24833718, PMID:24899048, PMID:25326635, PMID:25525159, PMID:25741868, PMID:25944730, PMID:26038974, PMID:26133393, PMID:27196565, PMID:28383543, PMID:28492532, PMID:29907982, PMID:29926239, PMID:30311386, PMID:30675029, PMID:31316167, PMID:11754102 RGD:1300364 NCBI chr18:53,068,495...53,272,254
Ensembl chr18:53,068,495...53,181,503
JBrowse link
distal arthrogryposis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ecel1 endothelin converting enzyme-like 1 ISS OMIM:108120 | OMIM:108145 | OMIM:108200 | OMIM:114300 | OMIM:121050 | OMIM:121070 | OMIM:158300 | OMIM:178110 | OMIM:187370 | OMIM:193700 | OMIM:601680 | OMIM:609128 | OMIM:614335 | OMIM:615065 MouseDO NCBI chr 9:94,238,568...94,252,484
Ensembl chr 9:94,239,006...94,250,809
JBrowse link
G Fbn2 fibrillin 2 ISS OMIM:108120 | OMIM:108145 | OMIM:108200 | OMIM:114300 | OMIM:121050 | OMIM:121070 | OMIM:158300 | OMIM:178110 | OMIM:187370 | OMIM:193700 | OMIM:601680 | OMIM:609128 | OMIM:614335 | OMIM:615065 MouseDO NCBI chr18:53,068,495...53,272,254
Ensembl chr18:53,068,495...53,181,503
JBrowse link
G Klhl7 kelch-like family member 7 ISO ClinVar Annotator: match by term: Distal arthrogryposis ClinVar PMID:18414213, PMID:25741868, PMID:29074562 NCBI chr 4:7,532,881...7,582,032
Ensembl chr 4:7,532,889...7,582,207
JBrowse link
G Mybpc1 myosin binding protein C1 ISO ClinVar Annotator: match by term: Distal arthrogryposis ClinVar PMID:25741868 NCBI chr 7:29,086,159...29,171,909
Ensembl chr 7:29,086,156...29,171,783
JBrowse link
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Distal arthrogryposis ClinVar PMID:25741868 NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
JBrowse link
G Mylpf myosin light chain, phosphorylatable, fast skeletal muscle ISO ClinVar Annotator: match by term: Distal arthrogryposis ClinVar NCBI chr 1:198,655,835...198,658,590
Ensembl chr 1:198,655,742...198,658,583
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Distal arthrogryposis ClinVar PMID:25741868 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
JBrowse link
G Tnni2 troponin I2, fast skeletal type ISO
ISS
ClinVar Annotator: match by term: Distal arthrogryposis
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal
OMIM:108120 | OMIM:108145 | OMIM:108200 | OMIM:114300 | OMIM:121050 | OMIM:121070 | OMIM:158300 | OMIM:178110 | OMIM:187370 | OMIM:193700 | OMIM:601680 | OMIM:609128 | OMIM:614335 | OMIM:615065
ClinVar
MouseDO
PMID:12592607, PMID:17101001, PMID:25741868 NCBI chr 1:215,609,110...215,611,652
Ensembl chr 1:215,609,036...215,611,658
JBrowse link
G Tnnt3 troponin T3, fast skeletal type ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal ClinVar PMID:18414213, PMID:25741868, PMID:28492532 NCBI chr 1:215,666,628...215,683,628
Ensembl chr 1:215,666,628...215,683,628
JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Distal arthrogryposis ClinVar PMID:9624053, PMID:10090909, PMID:10729113, PMID:10775529, PMID:10909849, PMID:11311042, PMID:11402400, PMID:12112664, PMID:12525556, PMID:14970843, PMID:15025721, PMID:15325563, PMID:15326663, PMID:17296898, PMID:17405132, PMID:18641288, PMID:18665195, PMID:19881469, PMID:20145675, PMID:20301515, PMID:21174530, PMID:21234346, PMID:22495311, PMID:22581970, PMID:23352160, PMID:24033266, PMID:24088041, PMID:24160897, PMID:24607488, PMID:24944099, PMID:25097241, PMID:25404053, PMID:25649381, PMID:25741868, PMID:26633545, PMID:26872967, PMID:28041643, PMID:28492532, PMID:29953849, PMID:30718709 NCBI chr13:106,750,738...107,434,195
Ensembl chr13:106,751,625...107,427,329
JBrowse link
distal arthrogryposis type 1A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cntnap1 contactin associated protein 1 ISO ClinVar Annotator: match by term: Distal arthrogryposis type 1A ClinVar PMID:25326635, PMID:25741868, PMID:28374019, PMID:32214227 NCBI chr10:89,087,904...89,103,615
Ensembl chr10:89,089,646...89,103,614
JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Distal arthrogryposis type 1A ClinVar NCBI chr 4:44,747,467...44,854,628
Ensembl chr 4:44,774,741...44,852,665
JBrowse link
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Distal arthrogryposis type 1A ClinVar PMID:25741868 NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
JBrowse link
G Myh8 myosin heavy chain 8 ISO ClinVar Annotator: match by term: Distal arthrogryposis type 1A ClinVar PMID:25741868 NCBI chr10:53,818,818...53,848,490
Ensembl chr10:53,818,818...53,918,524
JBrowse link
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: Distal arthrogryposis type 1A OMIM
ClinVar
PMID:7977374, PMID:11738357, PMID:12592607, PMID:17194691, PMID:17846275, PMID:18414213, PMID:18420702, PMID:18422639, PMID:19047562, PMID:22084935, PMID:22832343, PMID:22980765, PMID:23689010, PMID:23757202, PMID:23886664, PMID:24033266, PMID:24039757, PMID:24657080, PMID:24692096, PMID:25741868, PMID:25978979, PMID:26467025, PMID:26752647, PMID:28492532 NCBI chr 5:59,016,616...59,025,971
Ensembl chr 5:59,016,622...59,025,631
JBrowse link
distal arthrogryposis type 1B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mybpc1 myosin binding protein C1 ISO ClinVar Annotator: match by term: Distal arthrogryposis type 1B
ClinVar Annotator: match by OMIM:614335
OMIM
ClinVar
PMID:18414213, PMID:20045868, PMID:22415774, PMID:23657818, PMID:23873045, PMID:25741868, PMID:26287277, PMID:28492532 NCBI chr 7:29,086,159...29,171,909
Ensembl chr 7:29,086,156...29,171,783
JBrowse link
distal arthrogryposis type 2A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh3 myosin heavy chain 3 ISO OMIM NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
JBrowse link
distal arthrogryposis type 2B term browser
Symbol Object Name 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 2B ClinVar PMID:16642020, PMID:18414213, PMID:19142688, PMID:25741868, PMID:28492532, PMID:28779239, PMID:29805041, PMID:30311386 NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
JBrowse link
G Tnni2 troponin I2, fast skeletal type ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Distal arthrogryposis type 2B
CTD
ClinVar
PMID:12592607, PMID:17101001, PMID:23850728, PMID:25741868, PMID:28492532 NCBI chr 1:215,609,110...215,611,652
Ensembl chr 1:215,609,036...215,611,658
JBrowse link
G Tnnt3 troponin T3, fast skeletal type ISO ClinVar Annotator: match by term: Distal arthrogryposis type 2B
ClinVar Annotator: match by term: Arthyrgryposis, distal, type 2B
ClinVar PMID:10525521, PMID:12865991, PMID:18414213, PMID:19142688, PMID:21402185, PMID:25337069, PMID:25741868, PMID:28492532 NCBI chr 1:215,666,628...215,683,628
Ensembl chr 1:215,666,628...215,683,628
JBrowse link
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: Distal arthrogryposis type 2B ClinVar PMID:25741868 NCBI chr 5:59,016,616...59,025,971
Ensembl chr 5:59,016,622...59,025,631
JBrowse link
distal arthrogryposis type 2B1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh3 myosin heavy chain 3 ISO DNA:missense mutations:exon:p.D462G (1454A>G), p.A234T (769C>T) (human)
ClinVar Annotator: match by term: ARTHROGRYPOSIS, DISTAL, TYPE 2B1
ClinVar PMID:25741868, PMID:18695058 RGD:12792960 NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
JBrowse link
G Tnni2 troponin I2, fast skeletal type ISO OMIM NCBI chr 1:215,609,110...215,611,652
Ensembl chr 1:215,609,036...215,611,658
JBrowse link
distal arthrogryposis type 2B2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnnt3 troponin T3, fast skeletal type ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS, DISTAL, TYPE 2B2 ClinVar
OMIM
PMID:10525521, PMID:12865991, PMID:19142688, PMID:21402185, PMID:25337069, PMID:25741868 NCBI chr 1:215,666,628...215,683,628
Ensembl chr 1:215,666,628...215,683,628
JBrowse link
distal arthrogryposis type 2B3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS, DISTAL, TYPE 2B3 OMIM
ClinVar
PMID:16642020, PMID:18695058, PMID:25741868, PMID:29625835, PMID:30826400 NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
JBrowse link
Distal Arthrogryposis Type 2B4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS, DISTAL, TYPE 2B4 ClinVar PMID:17339586, PMID:23678273, PMID:27726070, PMID:30285720 NCBI chr 5:59,016,616...59,025,971
Ensembl chr 5:59,016,622...59,025,631
JBrowse link
distal arthrogryposis type 3 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: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA
ClinVar Annotator: match by OMIM:114300
OMIM
ClinVar
PMID:8423615, PMID:11152147, PMID:17345626, PMID:19571066, PMID:23487782, PMID:24649842, PMID:24726473, PMID:25712306, PMID:25741868, PMID:27607563, PMID:27653382, PMID:27714920, PMID:27912047, PMID:30285720, PMID:31680123 NCBI chr18:58,353,361...58,728,555
Ensembl chr18:58,354,648...58,499,836
JBrowse link
distal arthrogryposis type 5 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: Oculomelic amyoplasia
ClinVar Annotator: match by OMIM:108145
OMIM
ClinVar
PMID:1941966, PMID:8423615, PMID:8533802, PMID:11152147, PMID:15103714, PMID:17345626, PMID:19571066, PMID:23487782, PMID:24649842, PMID:24726473, PMID:25712306, PMID:25741868, PMID:27607563, PMID:27653382, PMID:27714920, PMID:27912047, PMID:31680123 NCBI chr18:58,353,361...58,728,555
Ensembl chr18:58,354,648...58,499,836
JBrowse link
distal arthrogryposis type 5D term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ecel1 endothelin converting enzyme-like 1 ISO ClinVar Annotator: match by term: Distal arthrogryposis type 5D
ClinVar Annotator: match by term: Arthrogryposis, distal, type 5d
ClinVar Annotator: match by OMIM:615065
OMIM
ClinVar
PMID:23236030, PMID:23261301, PMID:24782201, PMID:25099528, PMID:25708584, PMID:25741868, PMID:26752647 NCBI chr 9:94,238,568...94,252,484
Ensembl chr 9:94,239,006...94,250,809
JBrowse link
distal arthrogryposis type 7 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: Beals-Hecht syndrome
ClinVar Annotator: match by term: Hecht syndrome
ClinVar PMID:3495735, PMID:4750422, PMID:8653794, PMID:11754102, PMID:16677079, PMID:16835936, PMID:17345643, PMID:17935258, PMID:18414213, PMID:18767143, PMID:19006240, PMID:22325249, PMID:23148498, PMID:24033266, PMID:24833718, PMID:24899048, PMID:25525159, PMID:25741868, PMID:25944730, PMID:26038974, PMID:26133393, PMID:28492532, PMID:29926239, PMID:30311386 NCBI chr18:53,068,495...53,272,254
Ensembl chr18:53,068,495...53,181,503
JBrowse link
G Myh8 myosin heavy chain 8 ISO ClinVar Annotator: match by term: Hecht syndrome
DNA:missense mmutation:cds:c.2021G > A(p.R674Q)(human)
ClinVar Annotator: match by OMIM:158300
OMIM
ClinVar
PMID:1600999, PMID:4443857, PMID:4837286, PMID:12800911, PMID:15282353, PMID:15590965, PMID:17041932, PMID:18049072, PMID:18414213, PMID:20949528, PMID:25305228, PMID:25741868, PMID:28492532, PMID:30311386, PMID:17041932 RGD:12914760 NCBI chr10:53,818,818...53,848,490
Ensembl chr10:53,818,818...53,918,524
JBrowse link
Distal Arthrogryposis, with Impaired Proprioception and Touch 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: Arthrogryposis, distal, with impaired proprioception and touch ClinVar
OMIM
PMID:25741868, PMID:27607563, PMID:27653382, PMID:27843126, PMID:27974811, PMID:28492532, PMID:31680123 NCBI chr18:58,353,361...58,728,555
Ensembl chr18:58,354,648...58,499,836
JBrowse link
Ehlers-Danlos syndrome musculocontractural type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dse dermatan sulfate epimerase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, musculocontractural type 2
ClinVar Annotator: match by OMIM:615539
OMIM
ClinVar
PMID:23704329, PMID:25703627, PMID:28492532 NCBI chr20:27,703,738...27,784,982
Ensembl chr20:27,703,732...27,782,586
JBrowse link
fetal akinesia deformation sequence syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dok7 docking protein 7 ISO ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr14:80,925,409...80,963,454
Ensembl chr14:80,926,654...80,958,478
JBrowse link
fetal akinesia deformation sequence syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta1 actin, alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868, PMID:31680123 NCBI chr19:56,674,072...56,677,084
Ensembl chr19:56,674,074...56,677,084
JBrowse link
G Adssl1 adenylosuccinate synthase like 1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868, PMID:31680123 NCBI chr 6:137,184,818...137,206,694
Ensembl chr 6:137,184,820...137,206,693
JBrowse link
G Aldh5a1 aldehyde dehydrogenase 5 family, member A1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868, PMID:31680123 NCBI chr17:42,133,076...42,159,413
Ensembl chr17:42,133,076...42,159,413
JBrowse link
G Asah1 N-acylsphingosine amidohydrolase 1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868, PMID:28492532, PMID:31680123 NCBI chr16:53,998,604...54,030,006
Ensembl chr16:53,998,560...54,040,836
JBrowse link
G Ascc1 activating signal cointegrator 1 complex subunit 1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868, PMID:28749478, PMID:31680123 NCBI chr20:29,558,330...29,648,899
Ensembl chr20:29,558,689...29,648,893
JBrowse link
G Aspm assembly factor for spindle microtubules ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868, PMID:31680123 NCBI chr13:56,546,021...56,591,793
Ensembl chr13:56,546,021...56,591,793
JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868, PMID:31680123 NCBI chr  X:157,236,400...157,312,028
Ensembl chr  X:157,239,306...157,312,028
JBrowse link
G Aven apoptosis and caspase activation inhibitor ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868, PMID:31680123 NCBI chr 3:103,980,612...104,117,193
Ensembl chr 3:104,042,168...104,117,192
JBrowse link
G Chrnd cholinergic receptor nicotinic delta subunit ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868, PMID:31680123 NCBI chr 9:94,286,550...94,294,968
Ensembl chr 9:94,286,550...94,294,968
JBrowse link
G Cntnap1 contactin associated protein 1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868, PMID:31680123 NCBI chr10:89,087,904...89,103,615
Ensembl chr10:89,089,646...89,103,614
JBrowse link
G Dok7 docking protein 7 ISO ClinVar Annotator: match by term: Pena-Shokeir syndrome type I
ClinVar Annotator: match by term: FETAL AKINESIA DEFORMATION SEQUENCE 1
ClinVar PMID:2261499, PMID:16917026, PMID:17439981, PMID:17452375, PMID:18161030, PMID:18165682, PMID:18414213, PMID:18626973, PMID:19261599, PMID:19837590, PMID:20012313, PMID:20458068, PMID:20554332, PMID:20562457, PMID:20610155, PMID:21520333, PMID:21850686, PMID:21984750, PMID:22230109, PMID:22661499, PMID:22678886, PMID:23219351, PMID:23657916, PMID:23790237, PMID:23831158, PMID:24033266, PMID:24088041, PMID:24425145, PMID:24500997, PMID:25033858, PMID:25237101, PMID:25326635, PMID:25326637, PMID:25741868, PMID:26467025, PMID:26583494, PMID:26633545, PMID:27391121, PMID:28492532, PMID:28716243, PMID:29054425, PMID:29118959, PMID:29395675, PMID:30266093, PMID:30311386, PMID:31880392 NCBI chr14:80,925,409...80,963,454
Ensembl chr14:80,926,654...80,958,478
JBrowse link
G Dqx1 DEAQ box RNA-dependent ATPase 1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868, PMID:31680123 NCBI chr 4:113,890,201...113,899,355
Ensembl chr 4:113,890,509...113,899,347
JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868, PMID:31680123 NCBI chr 6:134,958,854...135,085,769
Ensembl chr 6:134,958,854...135,085,769
JBrowse link
G Ears2 glutamyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868, PMID:31680123 NCBI chr 1:191,997,512...192,025,350
Ensembl chr 1:191,997,512...192,025,350
JBrowse link
G Fbln1 fibulin 1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868, PMID:31680123 NCBI chr 7:126,096,793...126,176,468
Ensembl chr 7:126,096,793...126,176,468
JBrowse link
G Gbe1 1,4-alpha-glucan branching enzyme 1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868, PMID:31680123 NCBI chr11:7,210,169...7,485,895
Ensembl chr11:7,210,209...7,485,890
JBrowse link
G Gcn1 GCN1 activator of EIF2AK4 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868, PMID:31680123 NCBI chr12:46,728,684...46,789,696
Ensembl chr12:46,728,699...46,789,726
JBrowse link
G Gfra4 GDNF family receptor alpha 4 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868, PMID:31680123 NCBI chr 3:123,573,394...123,582,431
Ensembl chr 3:123,578,997...123,581,518
JBrowse link
G Gldn gliomedin ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868, PMID:31680123 NCBI chr 8:58,870,516...58,914,605
Ensembl chr 8:58,870,516...58,914,603
JBrowse link
G Iqsec3 IQ motif and Sec7 domain ArfGEF 3 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868, PMID:31680123 NCBI chr 4:153,948,052...154,044,493
Ensembl chr 4:153,948,055...154,044,493
JBrowse link
G Lgi4 leucine-rich repeat LGI family, member 4 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868, PMID:31680123 NCBI chr 1:89,491,588...89,502,939
Ensembl chr 1:89,491,654...89,502,974
JBrowse link
G Magi3 membrane associated guanylate kinase, WW and PDZ domain containing 3 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868, PMID:31680123 NCBI chr 2:206,499,467...206,699,105
Ensembl chr 2:206,499,463...206,699,105
JBrowse link
G Musk muscle associated receptor tyrosine kinase ISO ClinVar Annotator: match by term: Pena-Shokeir syndrome type I ClinVar
OMIM
PMID:15184594, PMID:15496425, PMID:18414213, PMID:21520333, PMID:23326516, PMID:24122059, PMID:25262156, PMID:25537362, PMID:25612909, PMID:25695962, PMID:25741868, PMID:25900532, PMID:26467025, PMID:28492532, PMID:29704306, PMID:30311386, PMID:30429133, PMID:30719842 NCBI chr 5:75,392,790...75,498,694
Ensembl chr 5:75,392,790...75,498,694
JBrowse link
G Naga alpha-N-acetylgalactosaminidase ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868, PMID:31680123 NCBI chr 7:123,563,047...123,572,074
Ensembl chr 7:123,563,059...123,572,082
JBrowse link
G Nalcn sodium leak channel, non-selective ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868, PMID:27214504, PMID:31680123 NCBI chr15:109,734,092...110,046,729
Ensembl chr15:109,735,595...110,046,704
JBrowse link
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:8423615, PMID:11152147, PMID:17345626, PMID:19571066, PMID:23487782, PMID:24649842, PMID:24726473, PMID:25712306, PMID:25741868, PMID:27607563, PMID:27653382, PMID:27714920, PMID:27912047, PMID:27974811, PMID:31680123 NCBI chr18:58,353,361...58,728,555
Ensembl chr18:58,354,648...58,499,836
JBrowse link
G Prg4 proteoglycan 4 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868, PMID:31680123 NCBI chr13:67,672,588...67,688,902
Ensembl chr13:67,672,878...67,688,477
JBrowse link
G Prickle1 prickle planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868, PMID:31680123 NCBI chr 7:134,702,964...134,799,437
Ensembl chr 7:134,702,964...134,722,215
JBrowse link
G Rapsn receptor-associated protein of the synapse ISO ClinVar Annotator: match by OMIM:208150
ClinVar Annotator: match by term: Pena-Shokeir syndrome type I
ClinVar Annotator: match by term: Fetal akinesia sequence
ClinVar PMID:2245297, PMID:11791205, PMID:12651869, PMID:12730725, PMID:12796535, PMID:12807980, PMID:12929188, PMID:14504330, PMID:14659409, PMID:14729848, PMID:15036330, PMID:15145336, PMID:15282317, PMID:15286164, PMID:15328566, PMID:15482960, PMID:16945936, PMID:17190963, PMID:17594401, PMID:17686188, PMID:17878953, PMID:19620612, PMID:20157724, PMID:20562457, PMID:20930056, PMID:21228398, PMID:21305573, PMID:22326364, PMID:24033266, PMID:24319099, PMID:25194721, PMID:25264167, PMID:25741868, PMID:26147564, PMID:26467025, PMID:26782015, PMID:26910802, PMID:26927095, PMID:28492532, PMID:28495245, PMID:29053879, PMID:29054425, PMID:29189923, PMID:30124556, PMID:30266223, PMID:30311386, PMID:31680123 NCBI chr 3:79,859,815...79,869,486
Ensembl chr 3:79,860,179...79,869,524
JBrowse link
G RGD1307100 similar to RIKEN cDNA D630029K19 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868, PMID:31680123 NCBI chr 2:123,555,742...123,766,675
Ensembl chr 2:123,555,673...123,766,676
JBrowse link
G Ror2 receptor tyrosine kinase-like orphan receptor 2 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868, PMID:28492532, PMID:31680123 NCBI chr17:11,953,552...12,134,386
Ensembl chr17:11,953,552...12,134,386
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence
ClinVar Annotator: match by term: Pena-Shokeir syndrome type I
ClinVar PMID:20839240, PMID:21911697, PMID:22473935, PMID:25658027, PMID:25735680, PMID:25741868, PMID:28492532, PMID:30311386, PMID:31680123 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
JBrowse link
G Ryr3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868, PMID:31680123 NCBI chr 3:104,117,307...104,665,151
Ensembl chr 3:104,118,063...104,504,204
JBrowse link
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868, PMID:30311386, PMID:31680123 NCBI chr10:94,505,026...94,557,803
Ensembl chr10:94,505,026...94,557,764
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:23861362, PMID:25741868, PMID:28492532, PMID:31680123 NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868, PMID:31680123 NCBI chr 7:142,575,629...142,683,659
Ensembl chr 7:142,575,672...142,684,114
JBrowse link
G Setbp1 SET binding protein 1 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:18414213, PMID:20436468, PMID:25028416, PMID:25741868, PMID:28346496, PMID:31680123 NCBI chr18:75,090,733...75,432,446
Ensembl chr18:75,095,632...75,207,306
JBrowse link
G Spag16 sperm associated antigen 16 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868, PMID:31680123 NCBI chr 9:77,027,626...77,833,476
Ensembl chr 9:77,320,726...77,833,281
JBrowse link
G Tmpo thymopoietin ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868, PMID:31680123 NCBI chr 7:31,847,412...31,872,416
Ensembl chr 7:31,847,410...31,872,423
JBrowse link
G Unc50 unc-50 inner nuclear membrane RNA binding protein ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868, PMID:31680123 NCBI chr 9:44,024,994...44,032,896
Ensembl chr 9:44,025,020...44,032,888
JBrowse link
G Vps13d vacuolar protein sorting 13 homolog D ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868, PMID:31680123 NCBI chr 5:162,891,451...163,119,239
Ensembl chr 5:162,891,451...163,119,239
JBrowse link
G Zeb2 zinc finger E-box binding homeobox 2 ISO ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:25741868, PMID:31680123 NCBI chr 3:29,857,289...29,985,932
Ensembl chr 3:29,862,473...29,996,865
JBrowse link
fetal akinesia deformation sequence syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rapsn receptor-associated protein of the synapse ISO ClinVar Annotator: match by term: FETAL AKINESIA DEFORMATION SEQUENCE 2 OMIM
ClinVar
PMID:14504330, PMID:18179903, PMID:18252226 NCBI chr 3:79,859,815...79,869,486
Ensembl chr 3:79,860,179...79,869,524
JBrowse link
fetal akinesia deformation sequence syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dok7 docking protein 7 ISO ClinVar Annotator: match by term: FETAL AKINESIA DEFORMATION SEQUENCE 3 OMIM
ClinVar
PMID:16917026, PMID:18161030, PMID:18626973, PMID:19261599, PMID:21850686, PMID:22661499, PMID:28492532, PMID:31880392 NCBI chr14:80,925,409...80,963,454
Ensembl chr14:80,926,654...80,958,478
JBrowse link
fetal akinesia deformation sequence syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup88 nucleoporin 88 ISO ClinVar Annotator: match by term: FETAL AKINESIA DEFORMATION SEQUENCE 4 OMIM
ClinVar
PMID:30543681 NCBI chr10:57,581,828...57,606,171
Ensembl chr10:57,581,828...57,606,171
JBrowse link
Freeman-Sheldon syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by OMIM:193700
ClinVar Annotator: match by term: Freeman-Sheldon syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:16642020, PMID:18414213, PMID:18695058, PMID:19142688, PMID:25741868, PMID:28492532, PMID:29805041, PMID:30311386, PMID:30379605, PMID:30826400 NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
JBrowse link
hereditary neuropathy with liability to pressure palsies term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1s calcium voltage-gated channel subunit alpha1 S ISO ClinVar Annotator: match by term: Hereditary liability to pressure palsies ClinVar PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr13:52,889,570...52,964,558
Ensembl chr13:52,889,737...52,964,155
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Hereditary liability to pressure palsies ClinVar PMID:16288874 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Pmp22 peripheral myelin protein 22 ISO ClinVar Annotator: match by term: Hereditary liability to pressure palsies
ClinVar Annotator: match by term: Hereditary Neuropathy with Liability to Pressure Palsies
ClinVar Annotator: match by OMIM:162500
OMIM
ClinVar
PMID:7649472, PMID:7825607, PMID:8012388, PMID:8252046, PMID:8422677, PMID:8541860, PMID:8988161, PMID:9040737, PMID:9371959, PMID:9452099, PMID:9678704, PMID:9712007, PMID:9852256, PMID:10078969, PMID:10586280, PMID:10737979, PMID:11081809, PMID:11545686, PMID:12211648, PMID:12439896, PMID:12796555, PMID:14502374, PMID:15205993, PMID:15537650, PMID:15955700, PMID:16288874, PMID:16437560, PMID:17620487, PMID:18698610, PMID:19067730, PMID:19259128, PMID:19691535, PMID:20842290, PMID:21194947, PMID:21228398, PMID:21252112, PMID:21670407, PMID:21692910, PMID:25400662, PMID:25741868, PMID:26012543, PMID:26102530, PMID:26392352, PMID:26467025, PMID:27609586, PMID:28333917, PMID:28374912, PMID:28492532 NCBI chr10:49,538,588...49,568,583
Ensembl chr10:49,538,588...49,568,583
JBrowse link
Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nalcn sodium leak channel, non-selective ISO ClinVar Annotator: match by term: Intellectual disability with episodic ataxia and congenital arthrogryposis ClinVar PMID:25683120, PMID:25741868, PMID:25864427 NCBI chr15:109,734,092...110,046,729
Ensembl chr15:109,735,595...110,046,704
JBrowse link
lethal congenital contracture syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gle1 GLE1 RNA export mediator ISO ClinVar Annotator: match by term: Lethal Congenital Contracture Syndrome ClinVar NCBI chr 3:8,498,098...8,530,218
Ensembl chr 3:8,498,122...8,526,771
JBrowse link
lethal congenital contracture syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gle1 GLE1 RNA export mediator ISO ClinVar Annotator: match by term: Lethal congenital contracture syndrome 1
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:3993672, PMID:7770128, PMID:16892327, PMID:18204449, PMID:23421748, PMID:24243016, PMID:24961629, PMID:25343993, PMID:25741868, PMID:27684565, PMID:28492532, PMID:28884921, PMID:29899397 NCBI chr 3:8,498,098...8,530,218
Ensembl chr 3:8,498,122...8,526,771
JBrowse link
Lethal Congenital Contracture Syndrome 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nek9 NIMA-related kinase 9 ISO ClinVar Annotator: match by term: Lethal congenital contracture syndrome 10 ClinVar
OMIM
PMID:26908619 NCBI chr 6:109,121,524...109,162,433
Ensembl chr 6:109,124,330...109,162,267
JBrowse link
Lethal Congenital Contracture Syndrome 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gldn gliomedin ISO ClinVar Annotator: match by term: LETHAL CONGENITAL CONTRACTURE SYNDROME 11
ClinVar Annotator: match by term: Lethal congenital contracture syndrome 11
ClinVar
OMIM
PMID:25741868, PMID:27616481, PMID:28726266 NCBI chr 8:58,870,516...58,914,605
Ensembl chr 8:58,870,516...58,914,603
JBrowse link
lethal congenital contracture syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erbb3 erb-b2 receptor tyrosine kinase 3 ISO ClinVar Annotator: match by term: Lethal congenital contracture syndrome 2
ClinVar Annotator: match by OMIM:607598
OMIM
ClinVar
PMID:17701904, PMID:25741868 NCBI chr 7:2,989,202...3,010,610
Ensembl chr 7:2,989,340...3,010,350
JBrowse link
lethal congenital contracture syndrome 3 term browser
Symbol Object Name 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 7:11,267,207...11,294,291
Ensembl chr 7:11,267,218...11,294,249
JBrowse link
lethal congenital contracture syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mybpc1 myosin binding protein C1 ISO ClinVar Annotator: match by term: Lethal congenital contracture syndrome 4
ClinVar Annotator: match by OMIM:614915
OMIM
ClinVar
PMID:22610851 NCBI chr 7:29,086,159...29,171,909
Ensembl chr 7:29,086,156...29,171,783
JBrowse link
Lethal Congenital Contracture Syndrome 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnm2 dynamin 2 ISO ClinVar Annotator: match by OMIM:615368 OMIM
ClinVar
PMID:23092955 NCBI chr 8:22,458,869...22,540,649
Ensembl chr 8:22,458,899...22,540,524
JBrowse link
Lethal Congenital Contracture Syndrome 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zbtb42 zinc finger and BTB domain containing 42 ISO ClinVar Annotator: match by term: Lethal congenital contracture syndrome 6 OMIM
ClinVar
PMID:25055871 NCBI chr 6:137,238,899...137,247,115
Ensembl chr 6:137,243,185...137,245,313
JBrowse link
Lethal Congenital Contracture Syndrome 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cntnap1 contactin associated protein 1 ISO ClinVar Annotator: match by term: Lethal congenital contracture syndrome 7 ClinVar
OMIM
PMID:24319099, PMID:25741868, PMID:27668699, PMID:28254648 NCBI chr10:89,087,904...89,103,615
Ensembl chr10:89,089,646...89,103,614
JBrowse link
Lethal Congenital Contracture Syndrome 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adcy6 adenylate cyclase 6 ISO ClinVar Annotator: match by term: Lethal congenital contracture syndrome 8 ClinVar
OMIM
PMID:23806086, PMID:24088041, PMID:24319099, PMID:26257172 NCBI chr 7:140,270,678...140,291,722
Ensembl chr 7:140,270,692...140,291,620
JBrowse link
G Tex49 testis expressed 49 ISO ClinVar Annotator: match by term: Lethal congenital contracture syndrome 8 ClinVar PMID:24319099 NCBI chr 7:140,248,852...140,270,340
Ensembl chr 7:140,248,852...140,270,340
JBrowse link
Lethal Congenital Contracture Syndrome 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg6 adhesion G protein-coupled receptor G6 ISO ClinVar Annotator: match by term: Lethal congenital contracture syndrome 9 ClinVar
OMIM
PMID:26004201, PMID:26752647 NCBI chr 1:8,593,342...8,751,540
Ensembl chr 1:8,593,075...8,751,198
JBrowse link
Multiple Pterygium Syndrome, Lethal Type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome OMIM
ClinVar
PMID:6287911, PMID:7619526, PMID:7863154, PMID:8872460, PMID:9158151, PMID:14719537, PMID:15907919, PMID:18252226, PMID:18806275, PMID:22728938, PMID:24121633, PMID:25450229, PMID:25741868, PMID:26467025, PMID:27748205, PMID:28492532, PMID:29054425, PMID:29395675 NCBI chr 3:60,445,657...60,460,724
Ensembl chr 3:60,445,666...60,460,724
JBrowse link
G Chrnd cholinergic receptor nicotinic delta subunit ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome OMIM
ClinVar
PMID:8872460, PMID:11435464, PMID:11782989, PMID:18252226, PMID:18414213, PMID:23108489, PMID:25264167, PMID:25741868, PMID:26467025, PMID:26578207, PMID:28024842, PMID:28492532, PMID:30311386 NCBI chr 9:94,286,550...94,294,968
Ensembl chr 9:94,286,550...94,294,968
JBrowse link
G Chrng cholinergic receptor nicotinic gamma subunit ISO ClinVar Annotator: match by term: Lethal multiple pterygium syndrome OMIM
ClinVar
PMID:16826520, PMID:16826531, PMID:22167768, PMID:24038971, PMID:25608830, PMID:25741868, PMID:25957469, PMID:26752647, PMID:27245440, PMID:28492532, PMID:30311386 NCBI chr 9:94,302,218...94,308,591 JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smpd4 sphingomyelin phosphodiesterase 4 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES OMIM
ClinVar
PMID:25741868, PMID:31495489 NCBI chr11:87,522,971...87,546,687
Ensembl chr11:87,522,971...87,546,687
JBrowse link
neurogenic arthrogryposis multiplex congenita term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ergic1 endoplasmic reticulum-golgi intermediate compartment 1 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita neurogenic type
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:5491443, PMID:28317099 NCBI chr10:16,821,393...16,912,050
Ensembl chr10:16,821,880...16,910,641
JBrowse link
G Lgi4 leucine-rich repeat LGI family, member 4 ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita neurogenic type ClinVar PMID:25741868 NCBI chr 1:89,491,588...89,502,939
Ensembl chr 1:89,491,654...89,502,974
JBrowse link
Neurogenic Arthrogryposis Multiplex Congenita 1 with Myelin Defect term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lgi4 leucine-rich repeat LGI family, member 4 ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC, WITH MYELIN DEFECT
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita, neurogenic, with myelin defect
ClinVar
OMIM
PMID:25741868, PMID:28318499 NCBI chr 1:89,491,588...89,502,939
Ensembl chr 1:89,491,654...89,502,974
JBrowse link
Neurogenic Arthrogryposis Multiplex Congenita 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ergic1 endoplasmic reticulum-golgi intermediate compartment 1 ISO OMIM NCBI chr10:16,821,393...16,912,050
Ensembl chr10:16,821,880...16,910,641
JBrowse link
Neurogenic Arthrogryposis Multiplex Congenita 4 with Agenesis of the Corpus Callosum term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scyl2 SCY1 like pseudokinase 2 ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM ClinVar
OMIM
PMID:31960134 NCBI chr 7:30,291,087...30,344,464
Ensembl chr 7:30,291,087...30,344,445
JBrowse link
POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pi4ka phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis ClinVar
OMIM
PMID:25741868, PMID:25855803, PMID:26752647 NCBI chr11:87,858,323...87,975,549
Ensembl chr11:87,858,453...87,973,422
JBrowse link
Schaaf-Yang syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyfip1 cytoplasmic FMR1 interacting protein 1 ISO associated with Fragile X Syndrome;mRNA:decreased expression:leukocyte (human) RGD PMID:17435464 RGD:11558012 NCBI chr 1:114,258,773...114,347,138
Ensembl chr 1:114,258,719...114,347,137
JBrowse link
G Magel2 MAGE family member L2 ISO ClinVar Annotator: match by term: Schaaf-Yang syndrome
ClinVar Annotator: match by term: Schaaf-yang syndrome
ClinVar Annotator: match by OMIM:615547
OMIM
ClinVar
PMID:8424017, PMID:11891783, PMID:17728320, PMID:19066619, PMID:19172181, PMID:21248145, PMID:24076603, PMID:24088041, PMID:24661356, PMID:25326635, PMID:25473036, PMID:25741868, PMID:26365340, PMID:26633545, PMID:27195816, PMID:28281571, PMID:29599419, PMID:31397880 NCBI chr 1:123,015,404...123,019,945
Ensembl chr 1:123,015,746...123,019,522
JBrowse link
G Sim1 SIM bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Schaaf-yang syndrome ClinVar NCBI chr20:55,590,810...55,674,002
Ensembl chr20:55,594,676...55,673,995
JBrowse link
X-linked spinal muscular atrophy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Uba1 ubiquitin-like modifier activating enzyme 1 ISO ClinVar Annotator: match by term: Spinal muscular atrophy, X-linked 2
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita, distal, X-linked
ClinVar Annotator: match by OMIM:301830
OMIM
ClinVar
PMID:18179898, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr  X:1,723,135...1,745,147
Ensembl chr  X:1,723,174...1,741,701
JBrowse link
G Zc4h2 zinc finger C4H2-type containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:23623388 NCBI chr  X:64,887,978...64,908,682
Ensembl chr  X:64,887,978...64,908,682
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      musculoskeletal system disease 5715
        muscular disease 1196
          Arthrogryposis 96
            ARC syndrome + 2
            ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY 1
            Arthrogryposis Epileptic Seizures Migrational Brain Disorder 0
            Arthrogryposis Multiplex Congenita 3, Myogenic Type 2
            Arthrogryposis Multiplex Congenita 5 1
            Arthrogryposis Multiplex Congenita Whistling Face 0
            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 + 20
            fetal akinesia deformation sequence syndrome + 43
            hereditary neuropathy with liability to pressure palsies 3
            lethal congenital contracture syndrome + 12
            neurogenic arthrogryposis multiplex congenita + 3
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        peripheral nervous system disease 2472
          neuropathy 2293
            neuromuscular disease 1775
              muscular disease 1196
                Arthrogryposis 96
                  ARC syndrome + 2
                  ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY 1
                  Arthrogryposis Epileptic Seizures Migrational Brain Disorder 0
                  Arthrogryposis Multiplex Congenita 3, Myogenic Type 2
                  Arthrogryposis Multiplex Congenita 5 1
                  Arthrogryposis Multiplex Congenita Whistling Face 0
                  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 + 20
                  fetal akinesia deformation sequence syndrome + 43
                  hereditary neuropathy with liability to pressure palsies 3
                  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.