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ONTOLOGY REPORT - ANNOTATIONS


Term:nemaline myopathy
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Accession:DOID:3191 term browser browse the term
Definition:A group of inherited congenital myopathic conditions characterized clinically by weakness, hypotonia, and prominent hypoplasia of proximal muscles including the face. Muscle biopsy reveals large numbers of rod-shaped structures beneath the muscle fiber plasma membrane. This disorder is genetically heterogeneous and may occasionally present in adults. (Adams et al., Principles of Neurology, 6th ed, p1453)
Synonyms:exact_synonym: Autosomal Dominant Nemaline Myopathy;   Autosomal Recessive Nemaline Myopathy;   Childhood Onset Nemaline Myopathy;   Late Onset Nemaline Myopathy;   Nemaline Body Disease;   Nemaline Rod Disease;   Rod Body Disease;   Rod Body Myopathy;   Rod Myopathies;   Rod-Body Myopathies;   adult onset nemaline myopathy;   nemaline myopathies;   nemaline rod myopathy;   rod myopathy
 narrow_synonym: NEMALINE MYOPATHY, DOMINANT;   NEMALINE MYOPATHY, RECESSIVE
 primary_id: MESH:D017696
 alt_id: RDO:0004316
 xref: GARD:12033;   OMIM:PS161800;   ORDO:607
For additional species annotation, visit the Alliance of Genome Resources.


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nemaline myopathy 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 Ankrd1 ankyrin repeat domain 1 JBrowse link 1 254,726,985 254,745,673 RGD:1578366
G Cfl2 cofilin 2 JBrowse link 6 75,759,140 75,763,185 RGD:8554872
G Dnaaf3 dynein, axonemal, assembly factor 3 JBrowse link 1 72,874,131 72,882,867 RGD:8554872
G Kbtbd13 kelch repeat and BTB domain containing 13 JBrowse link 8 70,907,934 70,909,671 RGD:8554872
G Klhl41 kelch-like family member 41 JBrowse link 3 55,910,177 55,923,303 RGD:8554872
RGD:13592920
G Neb nebulin JBrowse link 3 37,658,081 37,855,843 RGD:8554872
G Rif1 replication timing regulatory factor 1 JBrowse link 3 37,599,540 37,648,818 RGD:8554872
G Tnni3 troponin I3, cardiac type JBrowse link 1 72,882,806 72,886,490 RGD:8554872
G Tnnt1 troponin T1, slow skeletal type JBrowse link 1 72,889,270 72,899,629 RGD:8554872
G Tpm2 tropomyosin 2 JBrowse link 5 59,016,616 59,025,971 RGD:8554872
G Tpm3 tropomyosin 3 JBrowse link 2 189,423,534 189,451,340 RGD:1600404
RGD:8554872
KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myo18b myosin XVIIIb JBrowse link 12 49,761,100 49,979,745 RGD:8554872
RGD:7240710
Myopathy, Actin, Congenital, with Excess of Thin Myofilaments 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
nemaline myopathy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tpm3 tropomyosin 3 JBrowse link 2 189,423,534 189,451,340 RGD:7240710
RGD:8554872
nemaline myopathy 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmod3 leiomodin 3 JBrowse link 4 129,604,378 129,619,136 RGD:7240710
RGD:8554872
nemaline myopathy 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mypn myopalladin JBrowse link 20 26,988,820 27,074,106 RGD:8554872
RGD:7240710
nemaline myopathy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Neb nebulin JBrowse link 3 37,658,081 37,855,843 RGD:7240710
RGD:8554872
G Rif1 replication timing regulatory factor 1 JBrowse link 3 37,599,540 37,648,818 RGD:8554872
nemaline myopathy 3 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:7240710
RGD:8554872
nemaline myopathy 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tpm2 tropomyosin 2 JBrowse link 5 59,016,616 59,025,971 RGD:7240710
RGD:8554872
nemaline myopathy 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tnni3 troponin I3, cardiac type JBrowse link 1 72,882,806 72,886,490 RGD:8554872
G Tnnt1 troponin T1, slow skeletal type JBrowse link 1 72,889,270 72,899,629 RGD:737736
RGD:8554872
RGD:7240710
nemaline myopathy 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ankdd1a ankyrin repeat and death domain containing 1A JBrowse link 8 71,034,630 71,057,265 RGD:8554872
G Aph1b aph-1 homolog B, gamma secretase subunit JBrowse link 8 72,508,008 72,598,921 RGD:8554872
G Ca12 carbonic anhydrase 12 JBrowse link 8 72,405,770 72,461,425 RGD:8554872
G Ciao2a cytosolic iron-sulfur assembly component 2A JBrowse link 8 71,786,336 71,798,258 RGD:8554872
G Cilp cartilage intermediate layer protein JBrowse link 8 70,760,922 70,775,891 RGD:8554872
G Clpx caseinolytic mitochondrial matrix peptidase chaperone subunit JBrowse link 8 70,789,137 70,843,133 RGD:8554872
G Csnk1g1 casein kinase 1, gamma 1 JBrowse link 8 71,533,372 71,688,483 RGD:8554872
G Dapk2 death-associated protein kinase 2 JBrowse link 8 71,822,107 71,941,941 RGD:8554872
G Dennd4a DENN domain containing 4A JBrowse link 8 70,293,355 70,406,675 RGD:8554872
G Dpp8 dipeptidylpeptidase 8 JBrowse link 8 70,521,782 70,576,180 RGD:8554872
G Fbxl22 F-box and leucine-rich repeat protein 22 JBrowse link 8 72,198,043 72,204,730 RGD:8554872
G Hacd3 3-hydroxyacyl-CoA dehydratase 3 JBrowse link 8 70,471,572 70,509,874 RGD:8554872
G Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 JBrowse link 8 72,029,550 72,198,363 RGD:8554872
G Igdcc3 immunoglobulin superfamily, DCC subclass, member 3 JBrowse link 8 70,630,546 70,685,882 RGD:8554872
G Igdcc4 immunoglobulin superfamily, DCC subclass, member 4 JBrowse link 8 70,591,561 70,627,329 RGD:8554872
G Ints14 integrator complex subunit 14 JBrowse link 8 70,446,157 70,471,140 RGD:8554872
G Kbtbd13 kelch repeat and BTB domain containing 13 JBrowse link 8 70,907,934 70,909,671 RGD:7240710
RGD:8554872
G Lactb lactamase, beta JBrowse link 8 72,750,174 72,766,307 RGD:8554872
G Megf11 multiple EGF-like-domains 11 JBrowse link 8 69,859,256 70,191,070 RGD:8554872
G Mtfmt mitochondrial methionyl-tRNA formyltransferase JBrowse link 8 70,952,209 70,986,393 RGD:8554872
G Oaz2 ornithine decarboxylase antizyme 2 JBrowse link 8 71,216,011 71,229,788 RGD:8554872
G Parp16 poly (ADP-ribose) polymerase family, member 16 JBrowse link 8 70,712,393 70,731,212 RGD:8554872
G Pclaf PCNA clamp associated factor JBrowse link 8 71,514,281 71,526,182 RGD:8554872
G Pdcd7 programmed cell death 7 JBrowse link 8 70,860,671 70,875,471 RGD:8554872
G Pif1 PIF1 5'-to-3' DNA helicase JBrowse link 8 71,124,477 71,133,460 RGD:8554872
G Plekho2 pleckstrin homology domain containing O2 JBrowse link 8 71,092,766 71,118,966 RGD:8554872
G Ppib peptidylprolyl isomerase B JBrowse link 8 71,719,681 71,725,538 RGD:8554872
G Rab11a RAB11a, member RAS oncogene family JBrowse link 8 70,192,975 70,215,719 RGD:8554872
G Rab8b RAB8B, member RAS oncogene family JBrowse link 8 72,641,680 72,714,646 RGD:8554872
G Rasl12 RAS-like, family 12 JBrowse link 8 70,915,944 70,931,275 RGD:8554872
G Rbpms2 RNA binding protein, mRNA processing factor 2 JBrowse link 8 71,165,375 71,200,299 RGD:8554872
G Rps27l ribosomal protein S27-like JBrowse link 8 72,741,155 72,746,090 RGD:8554872
G Slc24a1 solute carrier family 24 member 1 JBrowse link 8 70,409,683 70,438,352 RGD:8554872
G Slc51b solute carrier family 51, beta subunit JBrowse link 8 70,930,196 70,938,559 RGD:8554872
G Snx1 sorting nexin 1 JBrowse link 8 71,745,687 71,786,182 RGD:8554872
G Snx22 sorting nexin 22 JBrowse link 8 71,725,405 71,728,729 RGD:8554872
G Spg21 SPG21 abhydrolase domain containing, maspardin JBrowse link 8 70,994,531 71,022,302 RGD:8554872
G Trip4 thyroid hormone receptor interactor 4 JBrowse link 8 71,369,121 71,533,281 RGD:8554872
G Ubap1l ubiquitin associated protein 1-like JBrowse link 8 70,876,516 70,895,723 RGD:8554872
G Usp3 ubiquitin specific peptidase 3 JBrowse link 8 72,207,970 72,284,871 RGD:8554872
G Zfp609 zinc finger protein 609 JBrowse link 8 71,230,830 71,337,746 RGD:8554872
nemaline myopathy 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cfl2 cofilin 2 JBrowse link 6 75,759,140 75,763,185 RGD:7240710
RGD:8554872
nemaline myopathy 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Klhl40 kelch-like family member 40 JBrowse link 8 130,416,265 130,421,871 RGD:7240710
RGD:8554872
nemaline myopathy 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Klhl41 kelch-like family member 41 JBrowse link 3 55,910,177 55,923,303 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15625
    Developmental Diseases 8759
      congenital structural myopathy 129
        nemaline myopathy 56
          Cardioneuromyopathy with Hyaline Masses and Nemaline Rods 0
          Intranuclear Rod Myopathy 0
          KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM 1
          Myopathy, Actin, Congenital, with Excess of Thin Myofilaments 1
          nemaline myopathy 1 1
          nemaline myopathy 10 1
          nemaline myopathy 11 1
          nemaline myopathy 2 2
          nemaline myopathy 3 1
          nemaline myopathy 4 1
          nemaline myopathy 5 2
          nemaline myopathy 6 41
          nemaline myopathy 7 1
          nemaline myopathy 8 1
          nemaline myopathy 9 1
Path 2
Term Annotations click to browse term
  disease 15625
    disease of anatomical entity 14954
      nervous system disease 10224
        peripheral nervous system disease 2126
          neuropathy 1949
            neuromuscular disease 1521
              muscular disease 958
                muscle tissue disease 685
                  myopathy 551
                    congenital structural myopathy 129
                      nemaline myopathy 56
                        Cardioneuromyopathy with Hyaline Masses and Nemaline Rods 0
                        Intranuclear Rod Myopathy 0
                        KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM 1
                        Myopathy, Actin, Congenital, with Excess of Thin Myofilaments 1
                        nemaline myopathy 1 1
                        nemaline myopathy 10 1
                        nemaline myopathy 11 1
                        nemaline myopathy 2 2
                        nemaline myopathy 3 1
                        nemaline myopathy 4 1
                        nemaline myopathy 5 2
                        nemaline myopathy 6 41
                        nemaline myopathy 7 1
                        nemaline myopathy 8 1
                        nemaline myopathy 9 1
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.