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DOID:0111551 - neurogenic scapuloperoneal syndrome Kaeser type
Disease Ontology 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.
Synonyms: Kaeser syndrome, scapuloperoneal syndrome, neurogenic, Kaeser type, scapuloperoneal syndrome type Kaeser, Stark-Kaeser syndrome
Xenbase Genes
:
des,
des.2
| MIM:181400 - SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE; SCPNK |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal dominant disease (is_a),
myopathy (is_a)