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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:Ullrich congenital muscular dystrophy
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Accession:DOID:0050558 term browser browse the term
Definition:A congenital muscular dystrophy that is characterized by muscle weakness and respiratory depression and has_material_basis_in mutation in the COL6A1, COL6A2 and COL6A3 that produce components of type VI collagen. (DO)
Synonyms:exact_synonym: UCMD;   UCMD1;   Ullrich congenital muscular dystrophy 1;   Ullrich disease;   Ullrich scleroatonic muscular dystrophy;   late onset scleroatonic familial myopathy;   muscular dystrophy, Ullrich type;   scleroatonic muscular dystrophy
 narrow_synonym: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, AUTOSOMAL DOMINANT;   Ullrich congenital muscular dystrophy, autosomal dominant;   Ullrich congenital muscular dystrophy, autosomal recessive;   Ullrich congenital muscular dystrophy, digenic, COL6A1/COL6A2
 broad_synonym: COL6A1-RELATED DISORDER;   COLLAGEN VI-RELATED MYOPATHY
 primary_id: MESH:C537521
 alt_id: OMIA:001967;   OMIM:254090;   RDO:0003378
 xref: GARD:4769;   NCI:C123438;   OMIM:PS254090
For additional species annotation, visit the Alliance of Genome Resources.


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Ullrich congenital muscular dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL12A1 collagen type XII alpha 1 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy
CTD
ClinVar
PMID:25741868 PMID:28492532 NCBI chr 1:90,744,409...90,875,127
Ensembl chr 1:90,744,429...90,875,118
JBrowse link
G COL6A2 collagen type VI alpha 2 chain ISO OMIM
G COL6A3 collagen type VI alpha 3 chain ISO OMIM NCBI chr15:137,011,549...137,103,687
Ensembl chr15:137,011,433...137,103,709
JBrowse link
G LOC100623720 collagen alpha-1(VI) chain ISO OMIM NCBI chr13:208,295,245...208,321,789
Ensembl chr13:208,295,240...208,313,127
JBrowse link
Ullrich Congenital Muscular Dystrophy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL12A1 collagen type XII alpha 1 chain ISO OMIM NCBI chr 1:90,744,409...90,875,127
Ensembl chr 1:90,744,429...90,875,118
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12693
    physical disorder 2360
      congenital muscular dystrophy 70
        Ullrich congenital muscular dystrophy 4
          Ullrich Congenital Muscular Dystrophy 2 1
Path 2
Term Annotations click to browse term
  disease 12693
    disease of anatomical entity 12233
      nervous system disease 9972
        peripheral nervous system disease 2315
          neuropathy 2154
            neuromuscular disease 1698
              muscular disease 1116
                muscle tissue disease 750
                  atrophic muscular disease 293
                    muscular dystrophy 291
                      congenital muscular dystrophy 70
                        Ullrich congenital muscular dystrophy 4
                          Ullrich Congenital Muscular Dystrophy 2 1
paths to the root