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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 8:87,042,820...87,150,701
Ensembl chr 8:87,040,799...87,158,368
JBrowse link
G Col6a1 collagen type VI alpha 1 chain ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1
ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy, autosomal dominant
ClinVar Annotator: match by OMIM:254090
OMIM
ClinVar
PMID:7695699 PMID:8218237 PMID:9724608 PMID:15689448 PMID:16130093 PMID:16935502 PMID:17785673 PMID:17785674 PMID:18642359 PMID:18825676 PMID:19204719 PMID:19344236 PMID:19564581 PMID:20882040 PMID:23572247 PMID:24038877 PMID:24801232 PMID:24959844 PMID:25741868 PMID:26467025 PMID:27708273 PMID:28182637 PMID:28492532 PMID:30564623 NCBI chr20:12,657,913...12,676,370
Ensembl chr20:12,658,065...12,675,561
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, autosomal recessive
ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy, autosomal dominant
ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy, digenic, col6a1/col6a2
ClinVar Annotator: match by OMIM:254090
OMIM
ClinVar
PMID:7695699 PMID:8218237 PMID:11381124 PMID:11506412 PMID:12218063 PMID:15563506 PMID:15689448 PMID:16075202 PMID:16935502 PMID:19344236 PMID:19564581 PMID:20106987 PMID:20729548 PMID:22075033 PMID:23940025 PMID:24038877 PMID:25741868 PMID:26467025 PMID:28492532 PMID:32860008 NCBI chr20:12,773,472...12,801,179
Ensembl chr20:12,773,427...12,801,180
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
ClinVar Annotator: match by term: Collagen VI-related myopathy
ClinVar Annotator: match by OMIM:254090
OMIM
ClinVar
PMID:11992252 PMID:15563506 PMID:15689448 PMID:18366090 PMID:19564581 PMID:20976770 PMID:23040494 PMID:25326635 PMID:25741868 PMID:28492532 NCBI chr 9:97,926,784...98,004,643
Ensembl chr 9:97,926,787...98,004,546
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: Ullrich congenital muscular dystrophy 2 OMIM
ClinVar
PMID:7695699 PMID:8218237 PMID:8601036 PMID:10612821 PMID:19344236 PMID:24334604 PMID:24334769 PMID:25741868 PMID:27159402 PMID:27348394 PMID:28492532 PMID:28973083 PMID:29342313 PMID:224334604 NCBI chr 8:87,042,820...87,150,701
Ensembl chr 8:87,040,799...87,158,368
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    physical disorder 2526
      congenital muscular dystrophy 72
        Ullrich congenital muscular dystrophy 4
          ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        peripheral nervous system disease 2498
          neuropathy 2319
            neuromuscular disease 1802
              muscular disease 1218
                muscle tissue disease 829
                  atrophic muscular disease 332
                    muscular dystrophy 330
                      congenital muscular dystrophy 72
                        Ullrich congenital muscular dystrophy 4
                          ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2 1
paths to the root