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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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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          Nervous System Heredodegenerative Disorders 2133
            neurogenic scapuloperoneal syndrome Kaeser type 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        peripheral nervous system disease 2565
          neuropathy 2360
            neuromuscular disease 1879
              muscular disease 1283
                muscle tissue disease 832
                  myopathy 666
                    neurogenic scapuloperoneal syndrome Kaeser type 1
paths to the root