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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 1B
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Accession:DOID:9005971 term browser browse the term
Definition:A disease characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence. Caused by homozygous, compound heterozygous, or heterozygous mutation in the COL6A2 gene on chromosome 21q22.
Synonyms:exact_synonym: UCMD1B
 related_synonym: UCMD1A/1B, DIGENIC;   ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1A/1B, DIGENIC
 primary_id: OMIM:620727


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Ullrich Congenital Muscular Dystrophy 1B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col6a2 collagen type VI alpha 2 chain ISO OMIM NCBI chrNW_004936778:394,985...430,070
Ensembl chrNW_004936778:394,953...430,113
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Pathological Conditions, Signs and Symptoms 11257
      Pathologic Processes 6960
        Sclerosis 13
          Ullrich congenital muscular dystrophy 5
            Ullrich Congenital Muscular Dystrophy 1B 1
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14107
      nervous system disease 12321
        peripheral nervous system disease 3867
          neuropathy 3685
            neuromuscular disease 2888
              muscular disease 2030
                muscle tissue disease 1215
                  myopathy 938
                    muscular dystrophy 563
                      congenital muscular dystrophy 168
                        Collagen VI-related Myopathy 61
                          Ullrich congenital muscular dystrophy 5
                            Ullrich Congenital Muscular Dystrophy 1B 1
paths to the root