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ONTOLOGY REPORT - ANNOTATIONS


Term:congenital structural myopathy
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Accession:DOID:422 term browser browse the term
Definition:A heterogeneous group of diseases characterized by the early onset of hypotonia, developmental delay of motor skills, non-progressive weakness. Each of these disorders is associated with a specific histologic muscle fiber abnormality.
Synonyms:exact_synonym: Autosomal Dominant Myotubular Myopathy;   Centronuclear Myopathies;   Congenital Non Progressive Myopathies;   Congenital Non-Progressive Myopathy;   Fiber Type Disproportion Myopathy, Congenital;   MTM1;   MYOPATHY WITH TUBULAR AGGREGATES;   MYOPATHY, TUBULAR AGGREGATE, 1;   Myopathy, Centronuclear, Autosomal Dominant;   Myotubular Myopathies;   Myotubular Myopathy;   Myotubular Myopathy 1;   TAM;   TAM1;   Tubular Aggregate Myopathies;   centronuclear myopathy;   congenital structural myopathies;   tubular aggregate myopathy
 narrow_synonym: TAM2;   tubular aggregate myopathy-2
 primary_id: MESH:D020914
 alt_id: OMIA:001374;   OMIM:160565;   OMIM:615883;   RDO:0002591
For additional species annotation, visit the Alliance of Genome Resources.


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congenital structural myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ankrd1 ankyrin repeat domain 1 JBrowse link 1 254,726,985 254,745,673 RGD:1578366
G Dnm2 dynamin 2 JBrowse link 8 22,458,869 22,540,649 RGD:8554872
G Ldb3 LIM domain binding 3 JBrowse link 16 10,878,348 10,943,016 RGD:1581815
G Mtm1 myotubularin 1 JBrowse link 6 18,821,821 18,840,449 RGD:1600519
RGD:8554872
G Myf6 myogenic factor 6 JBrowse link 7 49,739,643 49,741,490 RGD:1600529
G Orai1 ORAI calcium release-activated calcium modulator 1 JBrowse link 12 38,981,903 38,995,570 RGD:7240710
RGD:8554872
G Stim1 stromal interaction molecule 1 JBrowse link 1 167,373,894 167,533,412 RGD:8554872
CAP-Congenital Myopathy with Arthrogryposis Multiplex Congenita without Heart Involvement term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:8554872
central core myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aadac arylacetamide deacetylase JBrowse link 2 150,146,234 150,157,480 RGD:8554872
G Cbs cystathionine beta synthase JBrowse link 20 10,361,987 10,386,663 RGD:8554872
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:7240710
RGD:8554872
RGD:11554173
G Ryr2 ryanodine receptor 2 JBrowse link 17 65,533,998 65,955,606 RGD:8554872
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:8554872
Centronuclear Myopathy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnm2 dynamin 2 JBrowse link 8 22,458,869 22,540,649 RGD:7240710
RGD:8554872
G Mtmr14 myotubularin related protein 14 JBrowse link 4 145,195,046 145,238,097 RGD:7240710
G Myf6 myogenic factor 6 JBrowse link 7 49,739,643 49,741,490 RGD:8554872
Centronuclear Myopathy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bin1 bridging integrator 1 JBrowse link 18 25,163,575 25,222,139 RGD:7240710
Centronuclear Myopathy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myf6 myogenic factor 6 JBrowse link 7 49,739,643 49,741,490 RGD:7240710
RGD:8554872
Centronuclear Myopathy 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc78 coiled-coil domain containing 78 JBrowse link 10 15,155,839 15,160,039 RGD:7240710
RGD:8554872
Centronuclear Myopathy 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Speg SPEG complex locus JBrowse link 9 82,571,333 82,628,684 RGD:7240710
RGD:8554872
Centronuclear Myopathy 6, with fiber-type disproportion term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Map3k20 mitogen-activated protein kinase kinase kinase 20 JBrowse link 3 58,965,025 59,120,507 RGD:8554872
Centronuclear Myopathy, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bin1 bridging integrator 1 JBrowse link 18 25,163,575 25,222,139 RGD:8554872
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:8554872
Centronuclear Myopathy, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnm2 dynamin 2 JBrowse link 8 22,458,869 22,540,649 RGD:8554872
G Mtm1 myotubularin 1 JBrowse link 6 18,821,821 18,840,449 RGD:7240710
RGD:8554872
congenital fiber-type disproportion 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
RGD:13592920
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:13592920
RGD:8554872
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:13592920
RGD:8554872
G Selenon selenoprotein N JBrowse link 5 152,748,497 152,765,489 RGD:13592920
G Tpm2 tropomyosin 2 JBrowse link 5 59,016,616 59,025,971 RGD:13592920
G Tpm3 tropomyosin 3 JBrowse link 2 189,423,534 189,451,340 RGD:8554872
RGD:13592920
Congenital Myopathy, with Fiber-Type Disproportion 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
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:8554872
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:8554872
G Selenon selenoprotein N JBrowse link 5 152,748,497 152,765,489 RGD:7240710
RGD:8554872
G Tpm3 tropomyosin 3 JBrowse link 2 189,423,534 189,451,340 RGD:7240710
RGD:8554872
Congenital Neuromuscular Disease, with Uniform Type 1 Fiber term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:8554872
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
Minicore Myopathy with External Ophthalmoplegia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:7240710
RGD:8554872
Myofibrillar Myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bag3 Bcl2-associated athanogene 3 JBrowse link 1 199,941,258 199,965,191 RGD:11554173
RGD:8554872
G Cryab crystallin, alpha B JBrowse link 8 55,178,543 55,182,546 RGD:8554872
G Des desmin JBrowse link 9 82,556,574 82,564,288 RGD:8554872
RGD:11554173
G Dnm2 dynamin 2 JBrowse link 8 22,458,869 22,540,649 RGD:8554872
G Ky kyphoscoliosis peptidase JBrowse link 8 110,982,777 111,022,666 RGD:11554173
G Ldb3 LIM domain binding 3 JBrowse link 16 10,878,348 10,943,016 RGD:8554872
RGD:11554173
G Myot myotilin JBrowse link 18 35,573,978 35,593,541 RGD:8554872
G Pyroxd1 pyridine nucleotide-disulphide oxidoreductase domain 1 JBrowse link 4 176,565,733 176,581,976 RGD:11554173
myofibrillar myopathy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Des desmin JBrowse link 9 82,556,574 82,564,288 RGD:7240710
RGD:8554872
G Dnajb6 DnaJ heat shock protein family (Hsp40) member B6 JBrowse link 4 2,711,329 2,774,969 RGD:8554872
G Ldb3 LIM domain binding 3 JBrowse link 16 10,878,348 10,943,016 RGD:13592920
myofibrillar myopathy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cryab crystallin, alpha B JBrowse link 8 55,178,543 55,182,546 RGD:7240710
RGD:8554872
myofibrillar myopathy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myot myotilin JBrowse link 18 35,573,978 35,593,541 RGD:8554872
RGD:11554173
RGD:7240710
myofibrillar myopathy 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ldb3 LIM domain binding 3 JBrowse link 16 10,878,348 10,943,016 RGD:7240710
RGD:8554872
myofibrillar myopathy 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Flnb filamin B JBrowse link 15 18,750,152 18,883,019 RGD:8554872
G Flnc filamin C JBrowse link 4 56,710,934 56,738,779 RGD:7240710
RGD:8554872
myofibrillar myopathy 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bag3 Bcl2-associated athanogene 3 JBrowse link 1 199,941,258 199,965,191 RGD:7240710
RGD:8554872
myofibrillar myopathy 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep63 centrosomal protein 63 JBrowse link 8 111,063,988 111,116,014 RGD:8554872
G Cryab crystallin, alpha B JBrowse link 8 55,178,543 55,182,546 RGD:7240710
G Ephb1 Eph receptor B1 JBrowse link 8 110,376,954 110,813,193 RGD:8554872
G Ky kyphoscoliosis peptidase JBrowse link 8 110,982,777 111,022,666 RGD:8554872
Myofibrillar Myopathy 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pyroxd1 pyridine nucleotide-disulphide oxidoreductase domain 1 JBrowse link 4 176,565,733 176,581,976 RGD:8554872
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
Myopathy, Distal, Tateyama Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cav3 caveolin 3 JBrowse link 4 144,382,945 144,398,919 RGD:7240710
RGD:8554872
G Ssuh2 ssu-2 homolog JBrowse link 4 144,301,913 144,322,197 RGD:8554872
Myopathy, Myofibrillar, Bag3-Related term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bag3 Bcl2-associated athanogene 3 JBrowse link 1 199,941,258 199,965,191 RGD:8554872
Myosclerosis, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col6a2 collagen type VI alpha 2 chain JBrowse link 20 12,773,472 12,801,179 RGD:7240710
RGD:8554872
G Ftcd formimidoyltransferase cyclodeaminase JBrowse link 20 12,806,957 12,820,466 RGD:8554872
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
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:11554173
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
G Tpm3 tropomyosin 3 JBrowse link 2 189,423,534 189,451,340 RGD:7240710
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 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 Kbtbd13 kelch repeat and BTB domain containing 13 JBrowse link 8 70,907,934 70,909,671 RGD:7240710
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
spheroid body myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myot myotilin JBrowse link 18 35,573,978 35,593,541 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13834
    Developmental Diseases 6506
      congenital structural myopathy 49
        Actin-Accumulation Myopathy 0
        Cap Myopathy + 1
        Centronuclear Myopathy 1 3
        Centronuclear Myopathy 2 1
        Centronuclear Myopathy 3 1
        Centronuclear Myopathy 4 1
        Centronuclear Myopathy 5 1
        Centronuclear Myopathy 6, with fiber-type disproportion 1
        Centronuclear Myopathy, Autosomal Recessive + 2
        Centronuclear Myopathy, X-Linked 2
        Congenital Myopathy, with Fiber-Type Disproportion, X-Linked 0
        Minicore Myopathy with External Ophthalmoplegia 1
        Myofibrillar Myopathy + 13
        Myopathy, Distal, Tateyama Type 2
        Myopathy, Myofibrillar, Bag3-Related 1
        Myosclerosis, Autosomal Recessive 2
        Myotubular Myopathy with Abnormal Genital Development 0
        Pleoconial Myopathy with Salt Craving 0
        central core myopathy + 5
        congenital fiber-type disproportion + 6
        nemaline myopathy + 16
        spheroid body myopathy 1
Path 2
Term Annotations click to browse term
  disease 13834
    disease of anatomical entity 13031
      nervous system disease 8053
        peripheral nervous system disease 1620
          neuropathy 1439
            neuromuscular disease 1055
              muscular disease 765
                muscle tissue disease 505
                  myopathy 407
                    congenital structural myopathy 49
                      Actin-Accumulation Myopathy 0
                      Cap Myopathy + 1
                      Centronuclear Myopathy 1 3
                      Centronuclear Myopathy 2 1
                      Centronuclear Myopathy 3 1
                      Centronuclear Myopathy 4 1
                      Centronuclear Myopathy 5 1
                      Centronuclear Myopathy 6, with fiber-type disproportion 1
                      Centronuclear Myopathy, Autosomal Recessive + 2
                      Centronuclear Myopathy, X-Linked 2
                      Congenital Myopathy, with Fiber-Type Disproportion, X-Linked 0
                      Minicore Myopathy with External Ophthalmoplegia 1
                      Myofibrillar Myopathy + 13
                      Myopathy, Distal, Tateyama Type 2
                      Myopathy, Myofibrillar, Bag3-Related 1
                      Myosclerosis, Autosomal Recessive 2
                      Myotubular Myopathy with Abnormal Genital Development 0
                      Pleoconial Myopathy with Salt Craving 0
                      central core myopathy + 5
                      congenital fiber-type disproportion + 6
                      nemaline myopathy + 16
                      spheroid body myopathy 1
paths to the root