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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 121159
    Pathological Conditions, Signs and Symptoms 68269
      Pathologic Processes 33383
        Sclerosis 26
          Ullrich congenital muscular dystrophy 14
            Ullrich congenital muscular dystrophy 1B 1
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 1B 1
paths to the root