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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 1C
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Accession:DOID:0060943 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 or heterozygous mutation in the COL6A3 gene on chromosome 2q37. (DO)
Synonyms:exact_synonym: UCMD1C
 alt_id: DOID:9006954
 xref: MIM:620728;   MONDO:0958236


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Ullrich congenital muscular dystrophy 1C term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col6a3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1C OMIM
ClinVar		 PMID:9536098 PMID:11992252 PMID:15563506 PMID:16199547 PMID:17576681 More... NCBI chr 9:98,809,171...98,887,060
Ensembl chr 9:91,361,583...91,439,471 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    Pathological Conditions, Signs and Symptoms 13624
      Pathologic Processes 8326
        Sclerosis 20
          Ullrich congenital muscular dystrophy 11
            Ullrich congenital muscular dystrophy 1C 1
Path 2
Term Annotations click to browse term
  disease 19141
    disease of anatomical entity 18453
      nervous system disease 14360
        peripheral nervous system disease 4383
          neuropathy 4171
            neuromuscular disease 3219
              muscular disease 2226
                muscle tissue disease 1354
                  atrophic muscular disease 676
                    Brody myopathy 672
                      muscular dystrophy 656
                        congenital muscular dystrophy 212
                          Collagen VI-related Myopathy 68
                            Ullrich congenital muscular dystrophy 11
                              Ullrich congenital muscular dystrophy 1C 1
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