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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 | ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1		 CTD
ClinVar		 PMID:16199547 PMID:24334604 PMID:25741868 PMID:28492532 PMID:28973083 NCBI chr 8:80,547,592...80,665,665
Ensembl chr 8:80,547,593...80,665,686 		JBrowse link
G Col6a1 collagen type VI alpha 1 chain ISO ClinVar Annotator: match by term: COL6A1-related Disorder | ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1 | ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1, autosomal dominant OMIM
ClinVar		 PMID:7695699 PMID:8218237 PMID:9724608 PMID:15689448 PMID:16130093 More... NCBI chr20:11,906,105...11,924,599
Ensembl chr20:11,905,957...11,924,597 		JBrowse link
G Col6a2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1 | ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1, autosomal dominant OMIM
ClinVar		 PMID:7695699 PMID:8218237 PMID:11381124 PMID:11506412 PMID:12218063 More... NCBI chr20:12,021,676...12,049,425
Ensembl chr20:12,021,767...12,057,564 		JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1 | ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1, autosomal dominant OMIM
ClinVar		 PMID:9536098 PMID:11992252 PMID:15563506 PMID:15689448 PMID:16199547 More... NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471 		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 chr 8:80,547,592...80,665,665
Ensembl chr 8:80,547,593...80,665,686 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    physical disorder 4045
      congenital muscular dystrophy 116
        Ullrich congenital muscular dystrophy 4
          Ullrich Congenital Muscular Dystrophy 2 1
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        peripheral nervous system disease 2974
          neuropathy 2766
            neuromuscular disease 2185
              muscular disease 1417
                muscle tissue disease 934
                  atrophic muscular disease 419
                    muscular dystrophy 417
                      congenital muscular dystrophy 116
                        Ullrich congenital muscular dystrophy 4
                          Ullrich Congenital Muscular Dystrophy 2 1
paths to the root