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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 2
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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



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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 chr 1:90,744,409...90,875,127
Ensembl chr 1:90,744,612...90,875,118
JBrowse link
G COX7A2 cytochrome c oxidase subunit 7A2 ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 ClinVar PMID:28492532 NCBI chr 1:90,696,746...90,703,407
Ensembl chr 1:90,696,698...90,703,409
JBrowse link
G FILIP1 filamin A interacting protein 1 ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 ClinVar PMID:28492532 NCBI chr 1:90,427,529...90,643,061
Ensembl chr 1:90,427,659...90,638,550
JBrowse link
G IMPG1 interphotoreceptor matrix proteoglycan 1 ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 ClinVar PMID:28492532 NCBI chr 1:89,836,013...89,986,530
Ensembl chr 1:89,836,050...89,987,397
JBrowse link
G MYO6 myosin VI ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 ClinVar PMID:28492532 NCBI chr 1:89,992,860...90,137,767
Ensembl chr 1:89,992,866...90,137,734
JBrowse link
G SENP6 SUMO specific peptidase 6 ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 ClinVar PMID:28492532 NCBI chr 1:90,166,997...90,299,981
Ensembl chr 1:90,167,944...90,299,924
JBrowse link
G TMEM30A transmembrane protein 30A ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 ClinVar PMID:28492532 NCBI chr 1:90,639,271...90,688,004
Ensembl chr 1:90,650,560...90,688,002
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15430
    Pathological Conditions, Signs and Symptoms 12091
      Pathologic Processes 7676
        Sclerosis 20
          Ullrich congenital muscular dystrophy 11
            Ullrich congenital muscular dystrophy 2 7
Path 2
Term Annotations click to browse term
  disease 15430
    disease of anatomical entity 15099
      nervous system disease 13251
        peripheral nervous system disease 4256
          neuropathy 4068
            neuromuscular disease 3138
              muscular disease 2171
                muscle tissue disease 1326
                  atrophic muscular disease 664
                    Brody myopathy 660
                      muscular dystrophy 645
                        congenital muscular dystrophy 214
                          Collagen VI-related Myopathy 69
                            Ullrich congenital muscular dystrophy 11
                              Ullrich congenital muscular dystrophy 2 7
paths to the root