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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:facioscapulohumeral muscular dystrophy
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Accession:DOID:11727 term browser browse the term
Definition:An autosomal dominant degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicularis oculi muscles. (Neuromuscul Disord 1997;7(1):55-62; Adams et al., Principles of Neurology, 6th ed, p1420)
Synonyms:exact_synonym: FMD;   FSH Muscular Dystrophy;   FSHD;   Facio-Scapulo-Humeral Dystrophy;   Facioscapulohumeral Atrophies;   Facioscapulohumeral Atrophy;   Facioscapulohumeral Muscular Dystrophies;   Facioscapulohumeral Type Progressive Muscular Dystrophy;   Facioscapuloperoneal Muscular Dystrophy;   Landouzy Dejerine Dystrophy;   Landouzy Dejerine muscular dystrophy;   Landouzy-Dejerine Dystrophies
 primary_id: MESH:D020391;   RDO:0001961
 xref: GARD:9941;   ICD10CM:G71.02;   NCI:C84704
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
facioscapulohumeral muscular dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acan aggrecan ISO CTD Direct Evidence: marker/mechanism CTD PMID:12868502 NCBI chr 1:140,762,758...140,824,441
Ensembl chr 1:140,762,758...140,824,441
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:12868502 NCBI chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:12868502 NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
JBrowse link
G Dcn decorin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12868502 NCBI chr 7:38,742,250...38,782,282
Ensembl chr 7:38,742,051...38,782,323
JBrowse link
G Dux4 double homeobox 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22796148 NCBI chr16:3,754,968...3,766,532
Ensembl chr16:3,754,968...3,765,917
JBrowse link
G Eln elastin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12868502 NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
JBrowse link
G Fat1 FAT atypical cadherin 1 ISS OMIM:158900 | OMIM:158901 MouseDO NCBI chr16:50,372,150...50,501,716
Ensembl chr16:50,372,128...50,501,921
JBrowse link
G Gstt2 glutathione S-transferase, theta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12868502 NCBI chr20:13,760,810...13,764,481
Ensembl chr20:13,760,810...13,764,475
JBrowse link
G Hspa1b heat shock protein family A (Hsp70) member 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:12868502 NCBI chr20:4,877,638...4,880,112
Ensembl chr20:2,699,712...2,701,815
JBrowse link
G Hspa4 heat shock protein family A (Hsp70) member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12868502 NCBI chr10:38,601,624...38,642,397
Ensembl chr10:38,601,624...38,642,397
JBrowse link
G Large1 LARGE xylosyl- and glucuronyltransferase 1 ISS OMIM:158900 | OMIM:158901 MouseDO NCBI chr19:12,481,563...12,945,320
Ensembl chr19:12,481,540...12,942,963
JBrowse link
G Lum lumican ISO CTD Direct Evidence: marker/mechanism CTD PMID:12868502 NCBI chr 7:38,820,058...38,826,862
Ensembl chr 7:38,819,771...38,826,862
JBrowse link
G Slc25a4 solute carrier family 25 member 4 ISO RGD PMID:15551024 RGD:1580621 NCBI chr16:49,266,903...49,270,698
Ensembl chr16:49,266,903...49,270,698
JBrowse link
facioscapulohumeral muscular dystrophy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Frg1 FSHD region gene 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr16:53,957,858...53,978,865
Ensembl chr16:53,957,858...53,978,865
JBrowse link
facioscapulohumeral muscular dystrophy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Emilin2 elastin microfibril interfacer 2 ISO ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 2 ClinVar PMID:28492532 NCBI chr 9:119,594,049...119,653,675
Ensembl chr 9:119,594,629...119,653,255
JBrowse link
G Lpin2 lipin 2 ISO ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 2 ClinVar PMID:28492532 NCBI chr 9:119,517,101...119,591,533
Ensembl chr 9:119,517,101...119,591,533
JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 2 ClinVar PMID:28492532 NCBI chr 9:119,353,840...119,469,196
Ensembl chr 9:119,353,840...119,468,715
JBrowse link
G Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 ISO ClinVar Annotator: match by term: Weakness of facial musculature
ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 2
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:158901
OMIM
ClinVar
CTD
PMID:23143600 PMID:24075187 PMID:25256356 PMID:25370034 PMID:25741868 PMID:26467025 PMID:26842768 PMID:28067909 PMID:28067911 PMID:28492532 PMID:29980640 PMID:30327220 NCBI chr 9:119,675,750...119,818,620
Ensembl chr 9:119,676,628...119,818,310
JBrowse link
Scapulohumeral Muscular Dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 ISO ClinVar Annotator: match by term: Scapulohumeral muscular dystrophy ClinVar PMID:26467025 NCBI chr 9:119,675,750...119,818,620
Ensembl chr 9:119,676,628...119,818,310
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      musculoskeletal system disease 5799
        muscular disease 1218
          atrophic muscular disease 332
            muscular dystrophy 330
              facioscapulohumeral muscular dystrophy 18
                Myopathy with Storage of Glycoproteins and Glycosaminoglycans 0
                Scapulohumeral Muscular Dystrophy 1
                facioscapulohumeral muscular dystrophy 1 1
                facioscapulohumeral muscular dystrophy 2 4
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        peripheral nervous system disease 2498
          neuropathy 2319
            neuromuscular disease 1802
              muscular disease 1218
                muscle tissue disease 829
                  myopathy 683
                    muscular dystrophy 330
                      facioscapulohumeral muscular dystrophy 18
                        Myopathy with Storage of Glycoproteins and Glycosaminoglycans 0
                        Scapulohumeral Muscular Dystrophy 1
                        facioscapulohumeral muscular dystrophy 1 1
                        facioscapulohumeral muscular dystrophy 2 4
paths to the root