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Ullrich congenital muscular dystrophy - Ontology Report - Rat Genome Database

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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 congenital weakness, hypotonia, proximal joint contractures, marked hyperlaxity of the distal joints, with a loss of ambulation (if achieved) and uniform respiratory insufficiency during childhood that has_material_basis_in mutations in COL6A1, COL6A2 and COL6A3 genes. (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
 xref: GARD:4769;   MESH:C537521;   MIM:PS254090;   MONDO:0000355;   NCI:C123438;   OMIA:001967;   ORDO:75840

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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 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy		 CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 6:75,084,326...75,206,053
Ensembl chr 6:75,084,326...75,206,267 		JBrowse link
G COL6A1 collagen type VI alpha 1 chain IAGP
ISS
EXP		 ClinVar Annotator: match by term: COL6A1-related Disorder
OMIM:254090
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD		 PMID:7695699 PMID:8218237 PMID:9536098 PMID:11865138 PMID:15689448 More... NCBI chr21:45,981,770...46,005,048
Ensembl chr21:45,981,770...46,005,050 		JBrowse link
G COL6A3 collagen type VI alpha 3 chain ISS OMIM:254090 MouseDO NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328 		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 IAGP ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1A ClinVar PMID:16199547 PMID:24334604 PMID:28492532 PMID:28973083 NCBI chr 6:75,084,326...75,206,053
Ensembl chr 6:75,084,326...75,206,267 		JBrowse link
G COL6A1 collagen type VI alpha 1 chain IAGP ClinVar Annotator: match by term: COL6A1-related condition | ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1A OMIM
ClinVar		 PMID:7551830 PMID:7695699 PMID:8218237 PMID:8730294 PMID:9724608 More... NCBI chr21:45,981,770...46,005,048
Ensembl chr21:45,981,770...46,005,050 		JBrowse link
G COL6A2 collagen type VI alpha 2 chain IAGP ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1A
ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1 | ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1A		 ClinVar PMID:7695699 PMID:8218237 PMID:15689448 PMID:16199547 PMID:18366090 More... NCBI chr21:46,098,112...46,132,848
Ensembl chr21:46,098,112...46,132,848 		JBrowse link
G COL6A3 collagen type VI alpha 3 chain IAGP ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1A
ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1 | ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1A		 ClinVar PMID:3564626 PMID:7695699 PMID:8218237 PMID:9536098 PMID:11992252 More... NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328 		JBrowse link
G FTCD formimidoyltransferase cyclodeaminase IAGP ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1A ClinVar PMID:24801232 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr21:46,136,262...46,155,579
Ensembl chr21:46,136,160...46,155,579 		JBrowse link
G LOC122889011 Sharpr-MPRA regulatory region 1020 IAGP ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1A ClinVar PMID:16199547 PMID:18366090 PMID:20976770 PMID:21280092 PMID:23572247 More... NCBI chr 2:237,359,226...237,359,520 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 IAGP ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1B OMIM
ClinVar		 PMID:7695699 PMID:8218237 PMID:11381124 PMID:11506412 PMID:12218063 More... NCBI chr21:46,098,112...46,132,848
Ensembl chr21:46,098,112...46,132,848 		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 IAGP ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1C OMIM
ClinVar		 PMID:9536098 PMID:11992252 PMID:15563506 PMID:16199547 PMID:17576681 More... NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328 		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 IAGP ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2
ClinVar Annotator: match by term: COL12A1-related disorder | ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2		 OMIM
ClinVar		 PMID:7642694 PMID:7695699 PMID:8218237 PMID:8601036 PMID:9536098 More... NCBI chr 6:75,084,326...75,206,053
Ensembl chr 6:75,084,326...75,206,267 		JBrowse link
G COX7A2 cytochrome c oxidase subunit 7A2 IAGP ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 ClinVar PMID:28492532 NCBI chr 6:75,237,675...75,250,298
Ensembl chr 6:75,237,675...75,250,323 		JBrowse link
G FILIP1 filamin A interacting protein 1 IAGP ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 ClinVar PMID:28492532 NCBI chr 6:75,291,859...75,493,800
Ensembl chr 6:75,291,859...75,493,800 		JBrowse link
G IMPG1 interphotoreceptor matrix proteoglycan 1 IAGP ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 ClinVar PMID:28492532 NCBI chr 6:75,921,114...76,072,662
Ensembl chr 6:75,921,114...76,072,678 		JBrowse link
G LOC126859712 MED14-independent group 3 enhancer GRCh37_chr6:75828643-75829842 IAGP ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 ClinVar PMID:9536098 PMID:17576681 PMID:24334604 PMID:25741868 PMID:28492532 More... NCBI chr 6:75,118,927...75,120,126 JBrowse link
G LOC129996730 ATAC-STARR-seq lymphoblastoid active region 24756 IAGP ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 ClinVar PMID:9536098 PMID:17576681 PMID:24334604 PMID:28492532 PMID:28973083 NCBI chr 6:75,147,636...75,147,685 JBrowse link
G MYO6 myosin VI IAGP ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 ClinVar PMID:28492532 NCBI chr 6:75,749,239...75,919,537
Ensembl chr 6:75,749,201...75,919,537 		JBrowse link
G SENP6 SUMO specific peptidase 6 IAGP ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 ClinVar PMID:28492532 NCBI chr 6:75,601,880...75,718,281
Ensembl chr 6:75,601,509...75,718,281 		JBrowse link
G TMEM30A transmembrane protein 30A IAGP ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 ClinVar PMID:28492532 NCBI chr 6:75,252,924...75,284,792
Ensembl chr 6:75,252,924...75,284,948 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 147117
    physical disorder 8587
      congenital muscular dystrophy 282
        Collagen VI-related Myopathy 89
          Ullrich congenital muscular dystrophy 14
            Ullrich congenital muscular dystrophy 1A 6
            Ullrich congenital muscular dystrophy 1B 1
            Ullrich congenital muscular dystrophy 1C 1
            Ullrich congenital muscular dystrophy 2 9
Path 2
Term Annotations click to browse term
  disease 147117
    disease of anatomical entity 134156
      nervous system disease 71651
        peripheral nervous system disease 7683
          neuropathy 7130
            neuromuscular disease 5440
              muscular disease 3804
                muscle tissue disease 2579
                  myopathy 1664
                    muscular dystrophy 947
                      congenital muscular dystrophy 282
                        Collagen VI-related Myopathy 89
                          Ullrich congenital muscular dystrophy 14
                            Ullrich congenital muscular dystrophy 1A 6
                            Ullrich congenital muscular dystrophy 1B 1
                            Ullrich congenital muscular dystrophy 1C 1
                            Ullrich congenital muscular dystrophy 2 9
paths to the root