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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


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neurogenic scapuloperoneal syndrome, Kaeser type | ClinVar Annotator: match by term: Scapuloperoneal syndrome, neurogenic type, of Kaeser		 OMIM
CTD
ClinVar		 PMID:5828910 PMID:9697706 PMID:10717012 PMID:10905661 PMID:14326018 More... NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          Nervous System Heredodegenerative Disorders 3255
            neurogenic scapuloperoneal syndrome Kaeser type 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        peripheral nervous system disease 4124
          neuropathy 3907
            neuromuscular disease 3059
              muscular disease 2148
                muscle tissue disease 1294
                  myopathy 1008
                    neurogenic scapuloperoneal syndrome Kaeser type 1
paths to the root