Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  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 2
go back to main search page
Accession:DOID:0060948 term browser browse the term
Definition:An Ullrich congenital muscular dystrophy characterized by joint hypermobility, proximal contractures, and muscle weakness precluding ambulation that has_material_basis_in homozygous mutation in the COL12A1 gene on chromosome 6q. (DO)
Synonyms:exact_synonym: UCMD2
 broad_synonym: COL12A1- RELATED DISORDER;   COL12A1-RELATED CONDITION
 xref: MIM:616470;   MONDO:0014654



show annotations for term's descendants           Sort by:
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:7642694 PMID:7695699 PMID:8218237 PMID:8601036 PMID:9536098 More... NCBI chr12:36,720,686...36,838,321
Ensembl chr12:36,646,408...36,838,622
JBrowse link
G FILIP1 filamin A interacting protein 1 ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 ClinVar PMID:28492532 NCBI chr12:36,939,378...37,146,607
Ensembl chr12:36,942,790...37,166,589
JBrowse link
G IMPG1 interphotoreceptor matrix proteoglycan 1 ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 ClinVar PMID:28492532 NCBI chr12:37,506,511...37,614,683
Ensembl chr12:37,507,525...37,638,250
JBrowse link
G LOC119863903 cytochrome c oxidase subunit 7A2, mitochondrial ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 ClinVar PMID:28492532
G MYO6 myosin VI ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 ClinVar PMID:28492532 NCBI chr12:37,359,200...37,502,342
Ensembl chr12:37,413,570...37,500,724
JBrowse link
G SENP6 SUMO specific peptidase 6 ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 ClinVar PMID:28492532 NCBI chr12:37,218,707...37,336,244
Ensembl chr12:37,218,839...37,335,692
JBrowse link
G TMEM30A transmembrane protein 30A ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 ClinVar PMID:28492532 NCBI chr12:36,898,136...36,932,189
Ensembl chr12:36,888,092...36,931,936
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15758
    Pathological Conditions, Signs and Symptoms 12321
      Pathologic Processes 7818
        Sclerosis 20
          Ullrich congenital muscular dystrophy 11
            Ullrich congenital muscular dystrophy 2 7
Path 2
Term Annotations click to browse term
  disease 15758
    disease of anatomical entity 15377
      nervous system disease 13504
        peripheral nervous system disease 4304
          neuropathy 4112
            neuromuscular disease 3178
              muscular disease 2211
                muscle tissue disease 1348
                  atrophic muscular disease 673
                    Brody myopathy 669
                      muscular dystrophy 654
                        congenital muscular dystrophy 212
                          Collagen VI-related Myopathy 68
                            Ullrich congenital muscular dystrophy 11
                              Ullrich congenital muscular dystrophy 2 7
paths to the root