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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;   RSMD1;   RSS;   SEPN1-related myopathy;   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: Multiminicore/minicore/multicore disease
ClinVar Annotator: match by term: Multi-minicore disease and atypical periodic paralysis		 ClinVar PMID:17033962 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 PMID:31680349 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 OMIM:602771		 ClinVar
OMIM		 PMID:1219264 PMID:7224095 PMID:9536098 PMID:11079538 PMID:11528383 PMID:12192640 PMID:12207930 PMID:15122708 PMID:15668457 PMID:15792869 PMID:16365872 PMID:16498447 PMID:16779558 PMID:17365175 PMID:17576681 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:25635128 PMID:25741868 PMID:26467025 PMID:27066551 PMID:27447704 PMID:27863379 PMID:28492532 PMID:28558865 PMID:28688748 PMID:30921636 PMID:32860008, 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 16929
    physical disorder 2959
      congenital muscular dystrophy 71
        rigid spine muscular dystrophy 1 4
Path 2
Term Annotations click to browse term
  disease 16929
    disease of anatomical entity 16296
      nervous system disease 11871
        peripheral nervous system disease 2422
          neuropathy 2233
            neuromuscular disease 1779
              muscular disease 1190
                muscle tissue disease 813
                  myopathy 649
                    muscular dystrophy 315
                      congenital muscular dystrophy 71
                        rigid spine muscular dystrophy 1 4
paths to the root