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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:rigid spine muscular dystrophy 1
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Accession:DOID:0110633 term browser browse the term
Definition:A congenital muscular dystrophy characterized by intrasarcoplasmic aggregates of desmin resulting in spinal rigidity, abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the SEPN1 gene on chromosome 1p36. (DO)
Synonyms:exact_synonym: CONGENITAL MUSCULAR DYSTROPHY WITH RIGID SPINE;   Desmin-Related Myopathy With Mallory Bodies;   Desmin-related myopathies with Mallory bodies;   MDRS1;   Minicore myopathy, severe classic form;   Multicore myopathy, severe classic form;   Multiminicore disease, severe classic form;   Multiminicore/minicore/multicore disease;   Muscular Dystrophy, Congenital, Eichsfeld Type;   Muscular dystrophy, congenital, merosin positive with early spine rigidity;   Myopathy, Sepn1-Related;   RSMD1;   RSS;   classic MmD;   classic multiminicore disease;   classic multiminicore myopathy;   desmin-related myopathy with Mallory body-like inclusions;   early-onset desmin-related myopathy;   rigid spine syndrome
 narrow_synonym: Multi-minicore disease and atypical periodic paralysis
 broad_synonym: SEPN1-related disorder
 primary_id: MESH:C535683
 alt_id: OMIM:602771
 xref: GARD:4723;   ICD10CM:G71.8;   NCI:C126691;   ORDO:324604;   ORDO:84132;   ORDO:97244
For additional species annotation, visit the Alliance of Genome Resources.


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rigid spine muscular dystrophy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta1 actin, alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Congenital muscular dystrophy with rigid spine ClinVar PMID:27854218 NCBI chr19:56,674,072...56,677,084
Ensembl chr19:56,674,074...56,677,084
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Multi-minicore disease and atypical periodic paralysis
ClinVar Annotator: match by term: Multiminicore/minicore/multicore disease
ClinVar PMID:18414213, PMID:20080402, PMID:20583297, PMID:21674524, PMID:21911697, PMID:22473935, PMID:23553787, PMID:23919265, PMID:24033266, PMID:24088041, PMID:24195946, PMID:24950660, PMID:24951453, PMID:25214167, PMID:25476234, PMID:25658027, PMID:25735680, PMID:25741868, PMID:25958340, PMID:25960145, PMID:26633545, PMID:28492532, PMID:30611313 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
JBrowse link
G Selenon selenoprotein N ISO DNA:frameshift mutations, missense mutations, nonsense mutation:cds:multiple (human)
ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy
ClinVar Annotator: match by term: Desmin-related myopathies with Mallory bodies
ClinVar Annotator: match by OMIM:602771
ClinVar
OMIM
PMID:1219264, PMID:7224095, PMID:11079538, PMID:11528383, PMID:12192640, PMID:12207930, PMID:15122708, PMID:15668457, PMID:15792869, PMID:16365872, PMID:16498447, PMID:16779558, PMID:17365175, PMID:17951086, PMID:18313359, PMID:18414213, PMID:18713863, PMID:19067361, PMID:19285539, PMID:19557870, PMID:19763152, PMID:20307669, PMID:20623375, PMID:20937510, PMID:21131290, PMID:21670436, PMID:22406018, PMID:23394784, PMID:24033266, PMID:24988964, PMID:25182138, PMID:25741868, PMID:26467025, PMID:27066551, PMID:27447704, PMID:27863379, PMID:28492532, PMID:28558865, PMID:28688748, PMID:30311386, PMID:30921636, PMID:11528383 RGD:1599352 NCBI chr 5:152,748,497...152,765,489
Ensembl chr 5:152,750,284...152,762,165
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Classic multiminicore myopathy ClinVar PMID:25741868 NCBI chr 3:63,565,160...63,837,815 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          congenital muscular dystrophy 69
            rigid spine muscular dystrophy 1 4
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        peripheral nervous system disease 2472
          neuropathy 2293
            neuromuscular disease 1775
              muscular disease 1196
                muscle tissue disease 809
                  myopathy 665
                    muscular dystrophy 326
                      congenital muscular dystrophy 69
                        rigid spine muscular dystrophy 1 4
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.