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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:0060942 term browser browse the term
Definition:An Ullrich congenital muscular dystrophy characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the COL6A2 gene on chromosome 21q22. (DO)
Synonyms:exact_synonym: UCMD1B
 related_synonym: UCMD1A/1B, DIGENIC;   ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1A/1B, DIGENIC
 alt_id: DOID:9005971
 xref: MIM:620727;   MONDO:0958235


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Path 1
Term Annotations click to browse term
  disease 16271
    Pathological Conditions, Signs and Symptoms 12655
      Pathologic Processes 8061
        Sclerosis 21
          Ullrich congenital muscular dystrophy 11
            Ullrich congenital muscular dystrophy 1B 1
Path 2
Term Annotations click to browse term
  disease 16271
    disease of anatomical entity 15862
      nervous system disease 13796
        peripheral nervous system disease 4388
          neuropathy 4191
            neuromuscular disease 3244
              muscular disease 2252
                muscle tissue disease 1380
                  atrophic muscular disease 678
                    Brody myopathy 674
                      muscular dystrophy 658
                        congenital muscular dystrophy 215
                          Collagen VI-related Myopathy 70
                            Ullrich congenital muscular dystrophy 11
                              Ullrich congenital muscular dystrophy 1B 1
paths to the root