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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:inclusion body myopathy and brain white matter abnormalities
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Accession:DOID:0081121 term browser browse the term
Definition:An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that is characterized by proximal limb girdle muscle weakness affecting the lower and upper limbs and resulting in gait difficulties and scapular winging and that has_material_basis_in heterozygous mutation in the ANXA11 gene on chromosome 10q22. (DO)
Synonyms:exact_synonym: IBMWMA;   MSP6;   multisystem proteinopathy 6
 broad_synonym: ANXA11-RELATED CONDITION
 primary_id: MIM:619733
 alt_id: DOID:9000013


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inclusion body myopathy and brain white matter abnormalities term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anxa11 annexin A11 ISO ClinVar Annotator: match by term: Inclusion body myopathy and brain white matter abnormalities OMIM
ClinVar		 PMID:25741868 PMID:28469040 PMID:28492532 PMID:29845112 PMID:33087501 More... NCBI chr16:1,412,373...1,457,814
Ensembl chr16:1,410,756...1,457,797 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19102
    syndrome 11271
      inclusion body myopathy with Paget disease of bone and frontotemporal dementia 6
        inclusion body myopathy and brain white matter abnormalities 1
Path 2
Term Annotations click to browse term
  disease 19102
    disease of anatomical entity 18443
      nervous system disease 14336
        peripheral nervous system disease 4274
          neuropathy 4059
            neuromuscular disease 3200
              muscular disease 2219
                muscle tissue disease 1347
                  atrophic muscular disease 667
                    Brody myopathy 663
                      muscular dystrophy 647
                        limb-girdle muscular dystrophy 231
                          inclusion body myopathy with Paget disease of bone and frontotemporal dementia 6
                            inclusion body myopathy and brain white matter abnormalities 1
paths to the root