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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:neurogenic scapuloperoneal syndrome Kaeser type
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Accession:DOID:0111551 term browser browse the term
Definition:A myopathy characterized by adult onset of foot dorsiflexor weakness, peroneal muscle weakness, scapuloperoneal weakness, and shoulder girdle muscle atrophy that has_material_basis_in heterozygous mutation in DES on chromosome 2q35. (DO)
Synonyms:exact_synonym: Kaeser syndrome;   SCAPULOPERONEAL SYNDROME, NEUROGENIC TYPE, OF KAESER;   SCPNK;   Stark-Kaeser syndrome;   scapuloperoneal syndrome type Kaeser
 primary_id: MESH:C566695
 alt_id: OMIM:181400
 xref: GARD:10312;   ORDO:85146
For additional species annotation, visit the Alliance of Genome Resources.



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neurogenic scapuloperoneal syndrome Kaeser type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Des desmin ISO ClinVar Annotator: match by term: Neurogenic scapuloperoneal syndrome, Kaeser type | ClinVar Annotator: match by term: Scapuloperoneal syndrome, neurogenic type, of Kaeser OMIM
ClinVar
PMID:5828910 PMID:9697706 PMID:10430757 PMID:10717012 PMID:10905661 More... NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18256
    Developmental Disease 13110
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11866
        genetic disease 11373
          Nervous System Heredodegenerative Disorders 2430
            neurogenic scapuloperoneal syndrome Kaeser type 1
Path 2
Term Annotations click to browse term
  disease 18256
    disease of anatomical entity 17617
      nervous system disease 13267
        peripheral nervous system disease 3065
          neuropathy 2847
            neuromuscular disease 2237
              muscular disease 1465
                muscle tissue disease 959
                  myopathy 787
                    neurogenic scapuloperoneal syndrome Kaeser type 1
paths to the root