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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 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 121159
    Pathological Conditions, Signs and Symptoms 68269
      Pathologic Processes 33383
        Sclerosis 26
          Ullrich congenital muscular dystrophy 14
            Ullrich congenital muscular dystrophy 2 9
Path 2
Term Annotations click to browse term
  disease 121159
    disease of anatomical entity 111930
      nervous system disease 58665
        peripheral nervous system disease 7329
          neuropathy 6774
            neuromuscular disease 5185
              muscular disease 3708
                muscle tissue disease 2521
                  atrophic muscular disease 933
                    Brody myopathy 929
                      muscular dystrophy 901
                        congenital muscular dystrophy 284
                          Collagen VI-related Myopathy 88
                            Ullrich congenital muscular dystrophy 14
                              Ullrich congenital muscular dystrophy 2 9
paths to the root