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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 chrNW_004624819:2,085,654...2,200,843
Ensembl chrNW_004624819:2,086,512...2,197,951
JBrowse link
G Filip1 filamin A interacting protein 1 ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 ClinVar PMID:28492532 NCBI chrNW_004624819:2,352,322...2,562,060
Ensembl chrNW_004624819:2,380,195...2,501,975
JBrowse link
G Impg1 interphotoreceptor matrix proteoglycan 1 ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 ClinVar PMID:28492532 NCBI chrNW_004624819:3,002,718...3,030,007 JBrowse link
G LOC101723434 uncharacterized LOC101723434 ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 ClinVar PMID:28492532 NCBI chrNW_004624819:2,249,831...2,255,915
Ensembl chrNW_004624819:2,248,826...2,256,080
JBrowse link
G Myo6 myosin VI ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 ClinVar PMID:28492532 NCBI chrNW_004624819:2,835,783...2,999,819
Ensembl chrNW_004624819:2,896,374...2,999,819
JBrowse link
G Senp6 SUMO specific peptidase 6 ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 ClinVar PMID:28492532 NCBI chrNW_004624819:2,695,647...2,809,064
Ensembl chrNW_004624819:2,718,501...2,808,342
JBrowse link
G Tmem30a transmembrane protein 30A ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 ClinVar PMID:28492532 NCBI chrNW_004624819:2,272,857...2,336,791 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14230
    Pathological Conditions, Signs and Symptoms 11246
      Pathologic Processes 7120
        Sclerosis 20
          Ullrich congenital muscular dystrophy 11
            Ullrich congenital muscular dystrophy 2 7
Path 2
Term Annotations click to browse term
  disease 14230
    disease of anatomical entity 13932
      nervous system disease 12270
        peripheral nervous system disease 4064
          neuropathy 3888
            neuromuscular disease 2997
              muscular disease 2072
                muscle tissue disease 1249
                  atrophic muscular disease 618
                    Brody myopathy 615
                      muscular dystrophy 600
                        congenital muscular dystrophy 200
                          Collagen VI-related Myopathy 64
                            Ullrich congenital muscular dystrophy 11
                              Ullrich congenital muscular dystrophy 2 7
paths to the root