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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
 xref: GARD:9941;   ICD10CM:G71.02;   MESH:D020391;   MIM:PS158900;   MONDO:0001347;   NCI:C84704;   ORDO:269
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 1:142,390,951...142,453,779
Ensembl chr 1:142,390,951...142,453,779 		JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:12868502 NCBI chr20:7,150,820...7,161,373
Ensembl chr20:7,153,958...7,164,969 		JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:12868502 NCBI chr 9:54,866,646...54,902,578
Ensembl chr 9:54,866,632...54,903,232 		JBrowse link
G Dcn decorin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12868502 NCBI chr 7:34,167,973...34,208,004
Ensembl chr 7:34,163,011...34,218,926 		JBrowse link
G Dux4 double homeobox 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22796148 NCBI chr16:1,565,290...1,575,317
Ensembl chr16:1,567,553...1,575,468 		JBrowse link
G Eln elastin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12868502 NCBI chr12:27,604,983...27,648,413
Ensembl chr12:27,604,680...27,648,413 		JBrowse link
G Fat1 FAT atypical cadherin 1 ISS OMIM:158900 | OMIM:158901 MouseDO NCBI chr16:53,909,759...54,029,175
Ensembl chr16:53,909,556...54,028,609 		JBrowse link
G Gstt2 glutathione S-transferase theta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12868502 NCBI chr20:12,819,053...12,822,724
Ensembl chr20:12,818,540...12,822,718 		JBrowse link
G Hspa1b heat shock protein family A (Hsp70) member 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:12868502 NCBI chr20:3,859,756...3,863,800
Ensembl chr20:3,855,780...3,877,979 		JBrowse link
G Hspa4 heat shock protein family A (Hsp70) member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12868502 NCBI chr10:37,908,866...37,951,994
Ensembl chr10:37,908,866...37,949,835 		JBrowse link
G Large1 LARGE xylosyl- and glucuronyltransferase 1 ISS OMIM:158900 | OMIM:158901 MouseDO NCBI chr19:11,609,004...12,057,174
Ensembl chr19:11,609,004...12,054,707 		JBrowse link
G Lum lumican ISO CTD Direct Evidence: marker/mechanism CTD PMID:12868502 NCBI chr 7:34,245,323...34,252,510
Ensembl chr 7:34,245,360...34,252,508 		JBrowse link
G Slc25a4 solute carrier family 25 member 4 ISO RGD PMID:15551024 RGD:1580621 NCBI chr16:52,805,521...52,809,316
Ensembl chr16:52,805,523...52,811,700 		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 chr16:57,629,221...57,650,188
Ensembl chr16:57,629,315...57,650,188 		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:23143600 PMID:25820463 PMID:28492532 NCBI chr 9:118,607,312...118,667,087
Ensembl chr 9:118,606,891...118,666,957 		JBrowse link
G Lpin2 lipin 2 ISO ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 2 ClinVar PMID:23143600 PMID:25820463 PMID:28492532 NCBI chr 9:118,529,988...118,604,796
Ensembl chr 9:118,529,943...118,604,796 		JBrowse link
G Myl12a myosin light chain 12A ISO ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 2 ClinVar PMID:23143600 PMID:25820463 PMID:28492532 NCBI chr 9:118,338,592...118,346,277
Ensembl chr 9:118,338,604...118,342,634 		JBrowse link
G Myl12b myosin light chain 12B ISO ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 2 ClinVar PMID:23143600 PMID:25820463 PMID:28492532 NCBI chr 9:118,320,479...118,334,810
Ensembl chr 9:118,320,489...118,324,418 		JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 2 ClinVar PMID:23143600 PMID:25820463 PMID:28492532 NCBI chr 9:118,362,547...118,485,954
Ensembl chr 9:118,362,621...118,485,952 		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 9:118,690,050...118,837,281
Ensembl chr 9:118,690,057...118,833,452 		JBrowse link
G Tgif1 TGFB-induced factor homeobox 1 ISO ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 2 ClinVar PMID:23143600 PMID:25820463 PMID:28492532 NCBI chr 9:118,194,735...118,204,354
Ensembl chr 9:118,194,444...118,204,442 		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 2:196,919,606...197,010,713
Ensembl chr 2:196,919,151...197,010,717 		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 3:162,590,777...162,629,313
Ensembl chr 3:162,604,037...162,629,313 		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 9:118,690,050...118,837,281
Ensembl chr 9:118,690,057...118,833,452 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      musculoskeletal system disease 8492
        muscular disease 2244
          muscle tissue disease 1363
            myopathy 1058
              muscular dystrophy 659
                facioscapulohumeral muscular dystrophy 23
                  Myopathy with Storage of Glycoproteins and Glycosaminoglycans 0
                  Scapulohumeral Muscular Dystrophy 1
                  facioscapulohumeral muscular dystrophy 1 1
                  facioscapulohumeral muscular dystrophy 2 7
                  facioscapulohumeral muscular dystrophy 3 1
                  facioscapulohumeral muscular dystrophy 4 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        peripheral nervous system disease 4409
          neuropathy 4194
            neuromuscular disease 3236
              muscular disease 2244
                muscle tissue disease 1363
                  myopathy 1058
                    muscular dystrophy 659
                      facioscapulohumeral muscular dystrophy 23
                        Myopathy with Storage of Glycoproteins and Glycosaminoglycans 0
                        Scapulohumeral Muscular Dystrophy 1
                        facioscapulohumeral muscular dystrophy 1 1
                        facioscapulohumeral muscular dystrophy 2 7
                        facioscapulohumeral muscular dystrophy 3 1
                        facioscapulohumeral muscular dystrophy 4 1
paths to the root