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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 chr14:60,412,651...60,415,687 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 6:47,339,759...47,458,457 JBrowse link
G SELENON selenoprotein N ISO OMIM NCBI chr 6:83,246,934...83,262,748 JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Classic multiminicore myopathy ClinVar PMID:25741868 NCBI chr15:84,226,953...84,501,320 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13426
    physical disorder 2791
      congenital muscular dystrophy 70
        rigid spine muscular dystrophy 1 4
Path 2
Term Annotations click to browse term
  disease 13426
    disease of anatomical entity 13092
      nervous system disease 10817
        peripheral nervous system disease 2303
          neuropathy 2139
            neuromuscular disease 1708
              muscular disease 1133
                muscle tissue disease 768
                  myopathy 606
                    muscular dystrophy 293
                      congenital muscular dystrophy 70
                        rigid spine muscular dystrophy 1 4
paths to the root