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DO Term : neurogenic scapuloperoneal syndrome Kaeser type [DOID:0111551] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • SNOMEDCT_US_2023_03_01:1208615009,
  • UMLS_CUI:C1867005,
  • MESH:C566695,
  • ORDO:85146,
  • 181400,
  • GARD:10312,
  • scapuloperoneal syndrome type Kaeser,
  • Kaeser syndrome,
  • scapuloperoneal syndrome, neurogenic, Kaeser type,
  • Stark-Kaeser syndrome,
  • OMIM:181400
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Disease

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Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents