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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 chr17:83,473...205,366
Ensembl chr17:86,992...204,504
JBrowse link
G COX7A2 cytochrome c oxidase subunit 7A2, mitochondrial ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 ClinVar PMID:28492532 NCBI chr17:45,771...51,466
Ensembl chr17:45,771...51,669
JBrowse link
G FILIP1 filamin A interacting protein 1 ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 ClinVar PMID:28492532 NCBI chr13:6,620...315,021
Ensembl chr13:3,419...237,925
JBrowse link
G IMPG1 interphotoreceptor matrix proteoglycan 1 ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 ClinVar PMID:28492532 NCBI chr13:624,694...783,466
Ensembl chr13:625,891...750,525
JBrowse link
G MYO6 myosin VI ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 ClinVar PMID:28492532 NCBI chr13:527,361...620,418
Ensembl chr13:457,495...618,858
JBrowse link
G SENP6 SUMO specific peptidase 6 ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 ClinVar PMID:28492532 NCBI chr13:315,000...427,549
Ensembl chr13:315,390...425,390
JBrowse link
G TMEM30A transmembrane protein 30A ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 ClinVar PMID:28492532 NCBI chr17:4,877...36,725
Ensembl chr17:4,127...37,368
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15417
    Pathological Conditions, Signs and Symptoms 12061
      Pathologic Processes 7626
        Sclerosis 20
          Ullrich congenital muscular dystrophy 11
            Ullrich congenital muscular dystrophy 2 7
Path 2
Term Annotations click to browse term
  disease 15417
    disease of anatomical entity 15080
      nervous system disease 13230
        peripheral nervous system disease 4272
          neuropathy 4086
            neuromuscular disease 3164
              muscular disease 2181
                muscle tissue disease 1320
                  atrophic muscular disease 670
                    Brody myopathy 666
                      muscular dystrophy 652
                        congenital muscular dystrophy 215
                          Collagen VI-related Myopathy 67
                            Ullrich congenital muscular dystrophy 11
                              Ullrich congenital muscular dystrophy 2 7
paths to the root