About   Help   FAQ
Disease Ontology Browser
neurogenic scapuloperoneal syndrome Kaeser type (DOID:0111551)
Alliance: disease page
Synonyms: Kaeser syndrome; scapuloperoneal syndrome type Kaeser; scapuloperoneal syndrome, neurogenic, Kaeser type; Stark-Kaeser syndrome
Alt IDs: OMIM:181400, MESH:C566695, ORDO:85146, UMLS_CUI:C1867005
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
11/05/2024
MGI 6.24 		The Jackson Laboratory