Search Ontology:
Human Disease

autosomal dominant distal hereditary motor neuronopathy 7

Term ID
DOID:0111199
Synonyms
  • dHMN7
  • DHMNVPy
  • distal hereditary motor neuronopathy type 7
  • distal spinal muscular atrophy with vocal cord paralysis
Definition
An autosomal dominant distal hereditary motor neuronopathy that is characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs and later the lower limbs and vocal cord paresis and that has_material_basis_in heterozygous mutation in the SLC5A7 gene on 2q12.3. (2)
References
Ontology
Human Disease   ( DOID:0111199 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models