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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 6:72,927,897...73,049,168
Ensembl chr 6:76,219,319...76,340,496
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 6:73,135,086...73,334,630
Ensembl chr 6:76,429,175...76,548,549
JBrowse link
G IMPG1 interphotoreceptor matrix proteoglycan 1 ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 ClinVar PMID:28492532 NCBI chr 6:73,765,927...73,892,918
Ensembl chr 6:77,055,866...77,211,813
JBrowse link
G LOC100981677 cytochrome c oxidase subunit 7A2, mitochondrial ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 ClinVar PMID:28492532 NCBI chr 6:73,080,762...73,092,922
Ensembl chr 6:76,372,094...76,377,903
JBrowse link
G MYO6 myosin VI ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 ClinVar PMID:28492532 NCBI chr 6:73,593,794...73,764,352
Ensembl chr 6:76,951,634...77,048,796
JBrowse link
G SENP6 SUMO specific peptidase 6 ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 ClinVar PMID:28492532 NCBI chr 6:73,445,608...73,562,018
Ensembl chr 6:76,736,477...76,852,422
JBrowse link
G TMEM30A transmembrane protein 30A ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 ClinVar PMID:28492532 NCBI chr 6:73,096,128...73,128,202
Ensembl chr 6:76,390,241...76,418,939
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15834
    Pathological Conditions, Signs and Symptoms 12336
      Pathologic Processes 7774
        Sclerosis 21
          Ullrich congenital muscular dystrophy 11
            Ullrich congenital muscular dystrophy 2 7
Path 2
Term Annotations click to browse term
  disease 15834
    disease of anatomical entity 15490
      nervous system disease 13586
        peripheral nervous system disease 4302
          neuropathy 4114
            neuromuscular disease 3186
              muscular disease 2198
                muscle tissue disease 1335
                  atrophic muscular disease 673
                    Brody myopathy 669
                      muscular dystrophy 654
                        congenital muscular dystrophy 217
                          Collagen VI-related Myopathy 68
                            Ullrich congenital muscular dystrophy 11
                              Ullrich congenital muscular dystrophy 2 7
paths to the root