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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;   Ullrich disease;   Ullrich scleroatonic muscular dystrophy;   late onset scleroatonic familial myopathy;   muscular dystrophy, Ullrich type;   scleroatonic muscular dystrophy
 narrow_synonym: Ullrich congenital muscular dystrophy, autosomal dominant;   Ullrich congenital muscular dystrophy, autosomal recessive;   Ullrich congenital muscular dystrophy, digenic, COL6A1/COL6A2
 broad_synonym: COL6A1-RELATED DISORDER
 primary_id: MESH:C537521
 alt_id: OMIA:001967
 xref: GARD:4769;   NCI:C123438;   OMIM:PS254090

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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 ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955488:8,128,816...8,240,714
Ensembl chrNW_004955488:8,131,846...8,240,777 		JBrowse link
G Col6a1 collagen type VI alpha 1 chain ISO ClinVar Annotator: match by term: COL6A1-related Disorder ClinVar NCBI chrNW_004955407:42,461,837...42,479,048
Ensembl chrNW_004955407:42,461,952...42,478,261 		JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO OMIM:254090 MouseDO NCBI chrNW_004955542:2,869,183...2,950,569
Ensembl chrNW_004955542:2,887,723...2,949,062 		JBrowse link
Ullrich Congenital Muscular Dystrophy 1A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col12a1 collagen type XII alpha 1 chain ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1 ClinVar PMID:16199547 PMID:24334604 PMID:28492532 PMID:28973083 NCBI chrNW_004955488:8,128,816...8,240,714
Ensembl chrNW_004955488:8,131,846...8,240,777 		JBrowse link
G Col6a1 collagen type VI alpha 1 chain ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1 OMIM
ClinVar		 PMID:7551830 PMID:7695699 PMID:8218237 PMID:8730294 PMID:9724608 More... NCBI chrNW_004955407:42,461,837...42,479,048
Ensembl chrNW_004955407:42,461,952...42,478,261 		JBrowse link
G Col6a2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1 ClinVar PMID:15689448 PMID:16199547 PMID:17886299 PMID:18366090 PMID:18414213 More... NCBI chrNW_004955407:42,575,677...42,600,967
Ensembl chrNW_004955407:42,575,170...42,600,495 		JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1 ClinVar PMID:7695699 PMID:8218237 PMID:9536098 PMID:11992252 PMID:15563506 More... NCBI chrNW_004955542:2,869,183...2,950,569
Ensembl chrNW_004955542:2,887,723...2,949,062 		JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1 ClinVar PMID:24801232 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004955407:42,608,249...42,617,167
Ensembl chrNW_004955407:42,607,872...42,617,166 		JBrowse link
Ullrich Congenital Muscular Dystrophy 1B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col6a2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1B OMIM
ClinVar		 PMID:7695699 PMID:8218237 PMID:11381124 PMID:11506412 PMID:12218063 More... NCBI chrNW_004955407:42,575,677...42,600,967
Ensembl chrNW_004955407:42,575,170...42,600,495 		JBrowse link
Ullrich Congenital Muscular Dystrophy 1C term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col6a3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1C OMIM
ClinVar		 PMID:9536098 PMID:11992252 PMID:15563506 PMID:16199547 PMID:17576681 More... NCBI chrNW_004955542:2,869,183...2,950,569
Ensembl chrNW_004955542:2,887,723...2,949,062 		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 ClinVar Annotator: match by term: COL12A1- Related Disorder | ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 OMIM
ClinVar		 PMID:7695699 PMID:8218237 PMID:8601036 PMID:9536098 PMID:10612821 More... NCBI chrNW_004955488:8,128,816...8,240,714
Ensembl chrNW_004955488:8,131,846...8,240,777 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    Pathological Conditions, Signs and Symptoms 11054
      Pathologic Processes 6870
        Sclerosis 14
          Ullrich congenital muscular dystrophy 5
            Ullrich Congenital Muscular Dystrophy 1A 5
            Ullrich Congenital Muscular Dystrophy 1B 1
            Ullrich Congenital Muscular Dystrophy 1C 1
            Ullrich Congenital Muscular Dystrophy 2 1
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        peripheral nervous system disease 3827
          neuropathy 3646
            neuromuscular disease 2848
              muscular disease 2001
                muscle tissue disease 1200
                  myopathy 930
                    muscular dystrophy 554
                      congenital muscular dystrophy 172
                        Collagen VI-related Myopathy 58
                          Ullrich congenital muscular dystrophy 5
                            Ullrich Congenital Muscular Dystrophy 1A 5
                            Ullrich Congenital Muscular Dystrophy 1B 1
                            Ullrich Congenital Muscular Dystrophy 1C 1
                            Ullrich Congenital Muscular Dystrophy 2 1
paths to the root