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GENE - TERM ANNOTATION REPORT

RGD ID: 12718128
Species: Ictidomys tridecemlineatus
RGD Object: Gene
Symbol: LOC101972165
Name: myosin-7
Acc ID: DOID:9000655
Term: Distal Hereditary Motor Neuronopathy, Autosomal Recessive 7
Definition: This disease is an autosomal recessive, slowly progressive disorder with both myopathic and neurogenic features. Muscle biopsy and electrophysiologic studies are consistent with both a myopathic process and an axonal motor neuropathy. The phenotype shows some phenotypic overlap with distal hereditary motor neuropathy.
Definition Source(s): OMIM:619216
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
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