Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.


show annotations for term's descendants           Sort by:
 
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:15689448, PMID:16130093, PMID:16935502, PMID:17785673, PMID:17785674, PMID:18642359, PMID:18825676, 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, autosomal dominant
ClinVar Annotator: match by term: Collagen VI-related myopathy
ClinVar Annotator: match by OMIM:254090
OMIM
ClinVar
PMID:11992252, PMID:15563506, PMID:18366090, PMID:19564581, PMID:20976770, 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 16058
    Pathological Conditions, Signs and Symptoms 8739
      Pathologic Processes 6124
        Sclerosis 8
          Ullrich congenital muscular dystrophy 4
            ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        peripheral nervous system disease 2475
          neuropathy 2296
            neuromuscular disease 1777
              muscular disease 1199
                muscle tissue disease 811
                  atrophic muscular disease 329
                    muscular dystrophy 327
                      congenital muscular dystrophy 69
                        Ullrich congenital muscular dystrophy 4
                          ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.