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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:fetal akinesia deformation sequence syndrome
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Accession:DOID:0111375 term browser browse the term
Definition:A syndrome characterized by decreased fetal movements, intrauterine growth restriction, joint contractures, and developmental anomalies, including lung hypoplasia, cleft palate, and cryptorchidism that often has_material_basis_in mutation in a gene associated with the neuromuscular junction. (DO)
Synonyms:exact_synonym: FADS;   Pena-Shokeir syndrome type 1;   arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome;   fetal akinesia deformation sequence;   foetal akinesia deformation sequence syndrome;   foetal akinesia sequence
 xref: GARD:9634;   NCI:C129071;   OMIM:PS208150;   ORDO:994
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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:2261499 PMID:16917026 PMID:17439981 PMID:17452375 PMID:18161030 More... NCBI chr14:75,665,444...75,699,413
Ensembl chr14:75,666,744...75,699,386 		JBrowse link
G Rapsn receptor-associated protein of the synapse ISO ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 ClinVar PMID:2245297 PMID:12651869 PMID:15145336 PMID:15282317 PMID:19620612 More... NCBI chr 3:77,014,699...77,024,373
Ensembl chr 3:76,983,471...77,024,373 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1 ClinVar PMID:20839240 PMID:21911697 PMID:22473935 PMID:23394784 PMID:25658027 More... NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812 		JBrowse link
fetal akinesia deformation sequence syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acp2 acid phosphatase 2, lysosomal ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr 3:77,175,022...77,185,180
Ensembl chr 3:77,175,895...77,185,680 		JBrowse link
G Acta1 actin, alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr19:51,883,713...51,886,725
Ensembl chr19:51,883,715...51,886,742 		JBrowse link
G Adss1 adenylosuccinate synthase 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:26506222 PMID:28492532 PMID:31680123 NCBI chr 6:131,679,795...131,702,012
Ensembl chr 6:131,679,701...131,701,998 		JBrowse link
G Aldh5a1 aldehyde dehydrogenase 5 family, member A1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr17:40,132,339...40,158,677
Ensembl chr17:40,130,883...40,158,677 		JBrowse link
G Arfgap2 ADP-ribosylation factor GTPase activating protein 2 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr 3:77,236,305...77,248,445
Ensembl chr 3:77,236,322...77,248,455 		JBrowse link
G Asah1 N-acylsphingosine amidohydrolase 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chr16:50,966,404...50,997,827
Ensembl chr16:50,966,229...51,008,233 		JBrowse link
G Ascc1 activating signal cointegrator 1 complex subunit 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:28749478 PMID:31680123 NCBI chr20:27,941,053...28,031,272
Ensembl chr20:27,941,283...28,031,272 		JBrowse link
G Aspm assembly factor for spindle microtubules ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr13:51,074,849...51,123,755
Ensembl chr13:51,074,849...51,123,755 		JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr  X:151,216,483...151,289,069
Ensembl chr  X:151,216,507...151,286,775 		JBrowse link
G Aven apoptosis and caspase activation inhibitor ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 3:99,299,009...99,431,635
Ensembl chr 3:99,298,930...99,431,634 		JBrowse link
G Bltp1 bridge-like lipid transfer protein family member 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 2:119,708,114...119,924,697
Ensembl chr 2:119,708,209...119,924,695 		JBrowse link
G Chrnd cholinergic receptor nicotinic delta subunit ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 9:87,862,417...87,870,833
Ensembl chr 9:87,862,407...87,870,833 		JBrowse link
G Cntnap1 contactin associated protein 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr10:86,109,850...86,125,612
Ensembl chr10:86,111,643...86,125,611 		JBrowse link
G Cstpp1 centriolar satellite-associated tubulin polyglutamylase complex regulator 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr 3:77,247,393...77,416,307
Ensembl chr 3:77,248,375...77,416,274 		JBrowse link
G Ddb2 damage specific DNA binding protein 2 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr 3:77,185,114...77,207,650
Ensembl chr 3:77,185,109...77,207,631 		JBrowse link
G Dok7 docking protein 7 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:2261499 PMID:9536098 PMID:16199547 PMID:16794080 PMID:16917026 More... NCBI chr14:75,665,444...75,699,413
Ensembl chr14:75,666,744...75,699,386 		JBrowse link
G Dqx1 DEAQ box RNA-dependent ATPase 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 4:115,563,497...115,572,598
Ensembl chr 4:115,563,752...115,572,590 		JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883 		JBrowse link
G Ears2 glutamyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chr 1:176,597,986...176,625,848
Ensembl chr 1:176,597,986...176,625,836 		JBrowse link
G Exosc3 exosome component 3 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:22544365 PMID:23883322 PMID:25741868 PMID:28053271 PMID:28492532 More... NCBI chr 5:59,573,849...59,579,065
Ensembl chr 5:59,573,886...59,579,060 		JBrowse link
G Fbln1 fibulin 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 7:116,310,582...116,390,075
Ensembl chr 7:116,310,582...116,390,075 		JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25558065 NCBI chr18:51,499,737...51,703,976
Ensembl chr18:51,499,737...51,703,976 		JBrowse link
G Gbe1 1,4-alpha-glucan branching enzyme 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chr11:8,734,806...9,000,226
Ensembl chr11:8,734,820...9,000,210 		JBrowse link
G Gcn1 GCN1 activator of EIF2AK4 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr12:40,991,512...41,052,661
Ensembl chr12:40,991,512...41,052,555 		JBrowse link
G Gfra4 GDNF family receptor alpha 4 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 3:118,254,937...118,262,252
Ensembl chr 3:118,255,402...118,258,329 		JBrowse link
G Gldn gliomedin ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 8:54,679,015...54,723,198
Ensembl chr 8:54,679,119...54,723,196 		JBrowse link
G Iqsec3 IQ motif and Sec7 domain ArfGEF 3 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 4:154,610,933...154,707,310
Ensembl chr 4:154,610,934...154,707,310 		JBrowse link
G Lgi4 leucine-rich repeat LGI family, member 4 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 1:86,294,539...86,305,909
Ensembl chr 1:86,295,074...86,304,874 		JBrowse link
G Lrp4 LDL receptor related protein 4 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr 3:77,429,600...77,483,593
Ensembl chr 3:77,429,798...77,483,593 		JBrowse link
G Madd MAP-kinase activating death domain ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr 3:77,114,330...77,157,865
Ensembl chr 3:77,114,314...77,157,701 		JBrowse link
G Magi3 membrane associated guanylate kinase, WW and PDZ domain containing 3 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 2:191,514,726...191,717,048
Ensembl chr 2:191,518,506...191,716,735 		JBrowse link
G Musk muscle associated receptor tyrosine kinase ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 OMIM
ClinVar		 PMID:8653786 PMID:9536098 PMID:15184594 PMID:15496425 PMID:16199547 More... NCBI chr 5:73,058,427...73,169,696
Ensembl chr 5:73,058,121...73,171,932 		JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405 		JBrowse link
G Naga alpha-N-acetylgalactosaminidase ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 7:113,846,358...113,855,430
Ensembl chr 7:113,846,374...113,855,315 		JBrowse link
G Nalcn sodium leak channel, non-selective ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:27214504 PMID:31680123 NCBI chr15:100,398,615...100,712,283
Ensembl chr15:100,398,615...100,741,001 		JBrowse link
G Nr1h3 nuclear receptor subfamily 1, group H, member 3 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr 3:77,158,808...77,168,907
Ensembl chr 3:77,158,808...77,168,722 		JBrowse link
G Pacsin3 protein kinase C and casein kinase substrate in neurons 3 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr 3:77,227,187...77,235,820
Ensembl chr 3:77,222,710...77,235,811 		JBrowse link
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:8423615 PMID:11152147 PMID:24726473 PMID:25741868 PMID:27714920 More... NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216 		JBrowse link
G Prg4 proteoglycan 4 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr13:62,487,257...62,504,657
Ensembl chr13:62,487,257...62,504,119 		JBrowse link
G Prickle1 prickle planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 7:124,639,142...124,735,027
Ensembl chr 7:124,639,142...124,658,113 		JBrowse link
G Psmc3 proteasome 26S subunit, ATPase 3 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr 3:77,031,825...77,037,207
Ensembl chr 3:77,031,825...77,043,358 		JBrowse link
G Rapsn receptor-associated protein of the synapse ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: RAPSN-Related Disorders ClinVar PMID:2245297 PMID:9536098 PMID:11791205 PMID:12651869 PMID:12730725 More... NCBI chr 3:77,014,699...77,024,373
Ensembl chr 3:76,983,471...77,024,373 		JBrowse link
G Ror2 receptor tyrosine kinase-like orphan receptor 2 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chr17:11,972,830...12,148,152
Ensembl chr17:11,972,830...12,148,152 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: Fetal akinesia sequence ClinVar PMID:20839240 PMID:21911697 PMID:22473935 PMID:23394784 PMID:25658027 More... NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812 		JBrowse link
G Ryr3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 3:99,431,755...99,979,125
Ensembl chr 3:99,432,505...99,704,961 		JBrowse link
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr10:91,246,936...91,296,670
Ensembl chr10:91,246,936...91,296,545 		JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:23861362 PMID:25741868 PMID:28492532 PMID:31680123 NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769 		JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 7:131,982,152...132,156,075
Ensembl chr 7:131,982,480...132,151,292 		JBrowse link
G Setbp1 SET binding protein 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:18414213 PMID:20436468 PMID:25028416 PMID:25741868 PMID:28346496 More... NCBI chr18:72,190,542...72,551,272
Ensembl chr18:72,191,035...72,552,556 		JBrowse link
G Slc39a13 solute carrier family 39 member 13 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr 3:77,039,411...77,047,536
Ensembl chr 3:77,037,565...77,049,226 		JBrowse link
G Spag16 sperm associated antigen 16 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 9:71,333,005...72,252,772
Ensembl chr 9:71,332,992...72,252,708 		JBrowse link
G Spi1 Spi-1 proto-oncogene ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:17686188 PMID:28492532 NCBI chr 3:77,059,744...77,093,730
Ensembl chr 3:77,073,012...77,092,393 		JBrowse link
G Svep1 sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:28492532 NCBI chr 5:72,811,200...72,988,813
Ensembl chr 5:72,811,410...72,988,525 		JBrowse link
G Tmpo thymopoietin ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 7:25,642,752...25,667,756
Ensembl chr 7:25,586,725...25,667,727 		JBrowse link
G Txn1 thioredoxin 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:28492532 NCBI chr 5:72,712,334...72,724,564
Ensembl chr 5:72,711,933...72,724,629 		JBrowse link
G Txndc8 thioredoxin domain containing 8 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:28492532 NCBI chr 5:72,749,725...72,785,858
Ensembl chr 5:72,749,725...72,785,931 		JBrowse link
G Unc50 unc-50 inner nuclear membrane RNA binding protein ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 9:39,664,944...39,674,369
Ensembl chr 9:39,664,971...39,672,890 		JBrowse link
G Vps13d vacuolar protein sorting 13 homolog D ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:28492532 PMID:31680123 NCBI chr 5:156,830,509...157,055,895
Ensembl chr 5:156,830,512...157,055,891 		JBrowse link
G Zeb2 zinc finger E-box binding homeobox 2 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 ClinVar PMID:25741868 PMID:31680123 NCBI chr 3:29,219,765...29,342,094
Ensembl chr 3:29,218,301...29,345,157 		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:2245297 PMID:12651869 PMID:14504330 PMID:15036330 PMID:15145336 More... NCBI chr 3:77,014,699...77,024,373
Ensembl chr 3:76,983,471...77,024,373 		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:2261499 PMID:16917026 PMID:17439981 PMID:17452375 PMID:18161030 More... NCBI chr14:75,665,444...75,699,413
Ensembl chr14:75,666,744...75,699,386 		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:25741868 PMID:30543681 NCBI chr10:55,667,903...55,692,249
Ensembl chr10:55,667,906...55,692,257 		JBrowse link
G Rabep1 rabaptin, RAB GTPase binding effector protein 1 ISO ClinVar Annotator: match by term: Fetal akinesia deformation sequence 4 ClinVar PMID:25741868 NCBI chr10:55,566,156...55,667,595
Ensembl chr10:55,566,185...55,665,973 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20983
    Developmental Disease 18229
      fetal akinesia deformation sequence syndrome 61
        fetal akinesia deformation sequence syndrome 1 59
        fetal akinesia deformation sequence syndrome 2 1
        fetal akinesia deformation sequence syndrome 3 1
        fetal akinesia deformation sequence syndrome 4 2
        fetal akinesia deformation sequence syndrome X-linked 0
Path 2
Term Annotations click to browse term
  disease 20983
    Developmental Disease 18229
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18059
        genetic disease 17979
          monogenic disease 10257
            autosomal genetic disease 9392
              autosomal recessive disease 6473
                arthrogryposis multiplex congenita 228
                  fetal akinesia deformation sequence syndrome 61
                    fetal akinesia deformation sequence syndrome 1 59
                    fetal akinesia deformation sequence syndrome 2 1
                    fetal akinesia deformation sequence syndrome 3 1
                    fetal akinesia deformation sequence syndrome 4 2
                    fetal akinesia deformation sequence syndrome X-linked 0
paths to the root