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ONTOLOGY REPORT - ANNOTATIONS


Term:fetal akinesia deformation sequence syndrome 1
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Accession:DOID:0111377 term browser browse the term
Definition:A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in MUSK on chromosome 9q31.3. (DO)
Synonyms:exact_synonym: Arthrogryposis multiplex congenita with pulmonary hypoplasia;   Arthrogryposis multiplex congenita, pulmonary hypoplasia, cryptorchidism, and unusual ophthalmological findings;   FADS1;   Fetal Akinesia Deformation Sequence 1;   Fetal akinesia sequence;   Lethal Pena-Shokeir 1 syndrome;   Pena Shokeir Syndrome, Type 1;   Pena-Shokeir syndrome, type I;   arthrogryposis multiplex congenita, pulmonary hypoplasia
 broad_synonym: RAPSN-related disorder;   RAPSN-related disorders
 primary_id: MESH:C536647
 alt_id: OMIM:208150
For additional species annotation, visit the Alliance of Genome Resources.


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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

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Path 1
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  disease 15553
    Developmental Diseases 8823
      fetal akinesia deformation sequence syndrome 43
        fetal akinesia deformation sequence syndrome 1 42
Path 2
Term Annotations click to browse term
  disease 15553
    disease of anatomical entity 14837
      nervous system disease 10167
        peripheral nervous system disease 2164
          neuropathy 1988
            neuromuscular disease 1559
              muscular disease 1002
                Arthrogryposis 86
                  fetal akinesia deformation sequence syndrome 43
                    fetal akinesia deformation sequence syndrome 1 42
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.