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ONTOLOGY REPORT - ANNOTATIONS


Term:distal myopathy
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Accession:DOID:11720 term browser browse the term
Definition:A heterogeneous group of genetic disorders characterized by progressive MUSCULAR ATROPHY and MUSCLE WEAKNESS beginning in the hands, the legs, or the feet. Most are adult-onset autosomal dominant forms. Others are autosomal recessive.
Synonyms:exact_synonym: DISTAL MUSCLE WEAKNESS;   Distal Muscular Dystrophies;   distal muscular dystrophy;   distal myopathy, Markesbery Griggs type;   distal myopathy, early-onset, autosomal dominant;   distal myopathy, late hereditary
 primary_id: MESH:D049310
 alt_id: RDO:0002338
 xref: NCI:C84675;   ORDO:399086;   ORDO:399096;   ORDO:5448;   ORDO:63273
For additional species annotation, visit the Alliance of Genome Resources.


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distal myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aifm1 apoptosis inducing factor, mitochondria associated 1 JBrowse link X 135,304,063 135,343,062 RGD:8554872
G Col7a1 collagen type VII alpha 1 chain JBrowse link 8 117,694,441 117,726,844 RGD:8554872
G Dysf dysferlin JBrowse link 4 115,700,942 115,901,873 RGD:13592920
G Gjb1 gap junction protein, beta 1 JBrowse link X 71,272,030 71,279,973 RGD:8554872
G Hspb8 heat shock protein family B (small) member 8 JBrowse link 12 45,905,371 45,920,014 RGD:8554872
G Ldb3 LIM domain binding 3 JBrowse link 16 10,878,348 10,943,016 RGD:11068981
G Matr3 matrin 3 JBrowse link 18 28,351,691 28,390,764 RGD:8554872
G Mfn2 mitofusin 2 JBrowse link 5 164,684,244 164,715,414 RGD:8554872
G Mpz myelin protein zero JBrowse link 13 89,524,204 89,530,070 RGD:8554872
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:8554872
RGD:11554173
G Nefl neurofilament light JBrowse link 15 44,799,378 44,803,251 RGD:8554872
G Rab33a RAB33A, member RAS oncogene family JBrowse link X 135,348,799 135,360,204 RGD:8554872
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:8554872
RGD:11554173
amyotrophic lateral sclerosis type 21 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Matr3 matrin 3 JBrowse link 18 28,351,691 28,390,764 RGD:7240710
RGD:8554872
distal muscular dystrophy 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adcy5 adenylate cyclase 5 JBrowse link 11 68,695,839 68,842,452 RGD:8554872
G Flnc filamin C JBrowse link 4 56,710,934 56,738,779 RGD:7240710
RGD:8554872
G Frmd1 FERM domain containing 1 JBrowse link 1 54,316,651 54,328,405 RGD:8554872
distal muscular dystrophy 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
distal muscular dystrophy with anterior tibial onset term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dysf dysferlin JBrowse link 4 115,700,942 115,901,873 RGD:7240710
RGD:8554872
distal myopathy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh6 myosin heavy chain 6 JBrowse link 15 33,605,653 33,629,730 RGD:8554872
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:8554872
RGD:7240710
Distal Myopathy 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adssl1 adenylosuccinate synthase like 1 JBrowse link 6 137,184,818 137,206,694 RGD:8554872
RGD:7240710
Distal Myopathy 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actn2 actinin alpha 2 JBrowse link 17 66,304,530 66,397,647 RGD:7240710
Miyoshi muscular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ano5 anoctamin 5 JBrowse link 1 106,873,580 106,971,769 RGD:8554872
G Dysf dysferlin JBrowse link 4 115,700,942 115,901,873 RGD:8554872
RGD:11554173
Miyoshi muscular dystrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dysf dysferlin JBrowse link 4 115,700,942 115,901,873 RGD:8554872
RGD:7240710
Miyoshi muscular dystrophy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ano5 anoctamin 5 JBrowse link 1 106,873,580 106,971,769 RGD:7240710
RGD:8554872
RGD:11570558
myofibrillar myopathy 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:8554872
RGD:7240710
Nonaka Myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase JBrowse link 5 59,511,738 59,553,421 RGD:7240710
RGD:8554872
RGD:11554173
G Sqstm1 sequestosome 1 JBrowse link 10 35,704,728 35,716,316 RGD:8554872
RGD:7240710
spinal muscular atrophy with progressive myoclonic epilepsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Asah1 N-acylsphingosine amidohydrolase 1 JBrowse link 16 53,998,604 54,030,006 RGD:7240710
RGD:8554872
tibial muscular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:8554872
RGD:7240710
Welander Distal Myopathy, Swedish Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tia1 TIA1 cytotoxic granule-associated RNA binding protein JBrowse link 4 118,207,845 118,238,246 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      musculoskeletal system disease 4302
        muscular disease 968
          atrophic muscular disease 280
            muscular dystrophy 278
              distal myopathy 26
                Distal Myopathy 5 1
                Distal Myopathy 6 1
                Miyoshi muscular dystrophy + 2
                Nonaka Myopathy 2
                Welander Distal Myopathy, Swedish Type 1
                amyotrophic lateral sclerosis type 21 1
                distal muscular dystrophy 3 0
                distal muscular dystrophy 4 3
                distal muscular dystrophy Tateyama type 2
                distal muscular dystrophy with anterior tibial onset 1
                distal myopathy 1 2
                infantile-onset distal myopathy 0
                myofibrillar myopathy 9 1
                spinal muscular atrophy with progressive myoclonic epilepsy 1
                tibial muscular dystrophy 1
Path 2
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      nervous system disease 10239
        peripheral nervous system disease 2138
          neuropathy 1960
            neuromuscular disease 1530
              muscular disease 968
                muscle tissue disease 689
                  myopathy 556
                    muscular dystrophy 278
                      distal myopathy 26
                        Distal Myopathy 5 1
                        Distal Myopathy 6 1
                        Miyoshi muscular dystrophy + 2
                        Nonaka Myopathy 2
                        Welander Distal Myopathy, Swedish Type 1
                        amyotrophic lateral sclerosis type 21 1
                        distal muscular dystrophy 3 0
                        distal muscular dystrophy 4 3
                        distal muscular dystrophy Tateyama type 2
                        distal muscular dystrophy with anterior tibial onset 1
                        distal myopathy 1 2
                        infantile-onset distal myopathy 0
                        myofibrillar myopathy 9 1
                        spinal muscular atrophy with progressive myoclonic epilepsy 1
                        tibial muscular dystrophy 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.