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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 Type Progressive Muscular Dystrophy;   Facioscapuloperoneal Muscular Dystrophy;   Landouzy Dejerine dystrophy;   Landouzy-Dejerine dystrophies;   Landouzy-Dejerine muscular dystrophy;   facioscapulohumeral atrophies;   facioscapulohumeral atrophy;   facioscapulohumeral muscular dystrophies
 primary_id: MESH:D020391
 xref: EFO:0000491;   GARD:9941;   ICD10CM:G71.02;   MONDO:0001347;   NCI:C84704;   OMIM:PS158900
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 1:132,981,582...133,044,416
Ensembl chr 1:132,981,582...133,043,627 		JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:12868502 NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585 		JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:12868502 NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547 		JBrowse link
G Dcn decorin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12868502 NCBI chr 7:32,281,252...32,321,291
Ensembl chr 7:32,281,252...32,321,270 		JBrowse link
G Dux4 double homeobox 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22796148 NCBI chr16:1,558,430...1,570,045
Ensembl chr16:1,558,766...1,568,565 		JBrowse link
G Eln elastin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12868502 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928 		JBrowse link
G Fat1 FAT atypical cadherin 1 ISS OMIM:158900 | OMIM:158901 MouseDO NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107 		JBrowse link
G Gstt2 glutathione S-transferase theta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12868502 NCBI chr20:12,819,617...12,823,288
Ensembl chr20:12,819,170...12,823,288 		JBrowse link
G Hspa1b heat shock protein family A (Hsp70) member 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:12868502 NCBI chr20:3,855,104...3,859,148
Ensembl chr20:3,856,006...3,873,240
Ensembl chr20:3,856,006...3,873,240 		JBrowse link
G Hspa4 heat shock protein family A (Hsp70) member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12868502 NCBI chr10:37,408,025...37,449,080
Ensembl chr10:37,408,025...37,449,001 		JBrowse link
G Large1 LARGE xylosyl- and glucuronyltransferase 1 ISS OMIM:158900 | OMIM:158901 MouseDO NCBI chr19:11,603,129...12,048,930
Ensembl chr19:11,603,129...12,048,930 		JBrowse link
G Lum lumican ISO CTD Direct Evidence: marker/mechanism CTD PMID:12868502 NCBI chr 7:32,358,990...32,365,794
Ensembl chr 7:32,358,614...32,365,793 		JBrowse link
G Slc25a4 solute carrier family 25 member 4 ISO RGD PMID:15551024 RGD:1580621 NCBI chr16:46,072,935...46,076,730
Ensembl chr16:46,072,939...46,076,733 		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 chr16:50,925,783...50,946,661
Ensembl chr16:50,925,803...50,946,661 		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 9:111,160,708...111,220,463
Ensembl chr 9:111,160,712...111,220,352 		JBrowse link
G Lpin2 lipin 2 ISO ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 2 ClinVar PMID:28492532 NCBI chr 9:111,083,378...111,158,193
Ensembl chr 9:111,083,745...111,158,193 		JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 2 ClinVar PMID:28492532 NCBI chr 9:110,916,156...111,039,344
Ensembl chr 9:110,915,943...111,039,344 		JBrowse link
G Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 ISO ClinVar Annotator: match by term: FSHD2, DIGENIC | ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 2 | ClinVar Annotator: match by term: SMCHD1-related condition | ClinVar Annotator: match by term: Weakness of facial musculature
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:672092 PMID:8723126 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr 9:111,243,445...111,387,272
Ensembl chr 9:111,247,702...111,349,665 		JBrowse link
facioscapulohumeral muscular dystrophy 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrif1 ligand dependent nuclear receptor interacting factor 1 ISO ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 3, digenic OMIM
ClinVar		 PMID:32467133 NCBI chr 2:194,231,397...194,322,489
Ensembl chr 2:194,230,951...194,322,483 		JBrowse link
facioscapulohumeral muscular dystrophy 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnmt3b DNA methyltransferase 3 beta ISO ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 4, digenic OMIM
ClinVar		 PMID:25741868 PMID:27153398 PMID:28492532 NCBI chr 3:142,130,588...142,169,128
Ensembl chr 3:142,130,592...142,169,124 		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:25741868 PMID:26467025 PMID:28492532 PMID:32528171 NCBI chr 9:111,243,445...111,387,272
Ensembl chr 9:111,247,702...111,349,665 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      musculoskeletal system disease 8272
        muscular disease 2142
          muscle tissue disease 1289
            myopathy 1004
              muscular dystrophy 597
                facioscapulohumeral muscular dystrophy 20
                  Myopathy with Storage of Glycoproteins and Glycosaminoglycans 0
                  Scapulohumeral Muscular Dystrophy 1
                  facioscapulohumeral muscular dystrophy 1 1
                  facioscapulohumeral muscular dystrophy 2 4
                  facioscapulohumeral muscular dystrophy 3 1
                  facioscapulohumeral muscular dystrophy 4 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        peripheral nervous system disease 4110
          neuropathy 3895
            neuromuscular disease 3052
              muscular disease 2142
                muscle tissue disease 1289
                  myopathy 1004
                    muscular dystrophy 597
                      facioscapulohumeral muscular dystrophy 20
                        Myopathy with Storage of Glycoproteins and Glycosaminoglycans 0
                        Scapulohumeral Muscular Dystrophy 1
                        facioscapulohumeral muscular dystrophy 1 1
                        facioscapulohumeral muscular dystrophy 2 4
                        facioscapulohumeral muscular dystrophy 3 1
                        facioscapulohumeral muscular dystrophy 4 1
paths to the root