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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 2
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Accession:DOID:0111193 term browser browse the term
Definition:A facioscapulohumeral muscular dystrophy that has_material_basis_in digenic inheritance of a heterozygous mutation in SMCHDI on 18p11.32 and a haplotype on chromosome 4 that is permissive for DUX4 expression. (DO)
Synonyms:exact_synonym: FSHD1B;   FSHD2;   FSHD2, digenic;   FSHMD1B;   facioscapulohumeral muscular dystrophy 1B;   facioscapulohumeral muscular dystrophy 2, digenic;   facioscapulohumeral muscular dystrophy, type 1B;   facioscapulohumeral muscular dystrophy, type 2
 narrow_synonym: weakness of facial musculature
 primary_id: MESH:C563557
 alt_id: OMIM:158901
 xref: NCI:C172705
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
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 OMIM:158901
ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 2
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Weakness of facial musculature
OMIM
ClinVar
CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23143600 PMID:24075187 More... 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 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          polygenic disease 21
            digenic disease 21
              facioscapulohumeral muscular dystrophy 2 4
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        peripheral nervous system disease 2565
          neuropathy 2360
            neuromuscular disease 1879
              muscular disease 1283
                muscle tissue disease 832
                  myopathy 666
                    muscular dystrophy 326
                      facioscapulohumeral muscular dystrophy 20
                        facioscapulohumeral muscular dystrophy 2 4
paths to the root