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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 chr19:51,883,713...51,886,725
Ensembl chr19:51,883,715...51,886,742
JBrowse link
G Ldlrap1 low density lipoprotein receptor adaptor protein 1 ISO ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy ClinVar PMID:21131290 PMID:21670436 PMID:28492532 NCBI chr 5:146,955,607...146,978,601
Ensembl chr 5:146,955,607...146,978,601
JBrowse link
G Man1c1 mannosidase, alpha, class 1C, member 1 ISO ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy ClinVar PMID:21131290 PMID:21670436 PMID:28492532 NCBI chr 5:146,774,282...146,913,257
Ensembl chr 5:146,775,842...146,913,421
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:17033962 PMID:18414213 PMID:20080402 PMID:20583297 PMID:21674524 More... NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812
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
OMIM
RGD
PMID:1219264 PMID:7224095 PMID:9536098 PMID:11079538 PMID:11528383 More... RGD:1599352 NCBI chr 5:146,748,638...146,764,656
Ensembl chr 5:146,748,652...146,763,059
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Classic multiminicore myopathy ClinVar PMID:25741868 NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    physical disorder 4045
      congenital muscular dystrophy 116
        rigid spine muscular dystrophy 1 6
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        peripheral nervous system disease 2974
          neuropathy 2766
            neuromuscular disease 2185
              muscular disease 1417
                muscle tissue disease 934
                  myopathy 768
                    muscular dystrophy 417
                      congenital muscular dystrophy 116
                        rigid spine muscular dystrophy 1 6
paths to the root