OntologyTerm
spinal muscular atrophy, lower extremity-predominant, 2B, prenatal onset, autosomal dominant

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   December 12th, 2019 at 12:21am

Details

definition 
An autosomal dominant neuromuscular disorder characterized by decreased fetal movements, fractures in utero, severe congenital joint contractures, arthrogryposis multiplex congenita, severe hypotonia, muscle atrophy, and respiratory insufficiency and failure due to muscle weakness. Some patients may have dysmorphic facial features and/or abnormalities on brain imaging. Death in early childhood may occur. (EFO)
namespace 
http://www.ebi.ac.uk/efo
parents 
  1. autosomal dominant disease
  2. Genetic motor neuron disease
  3. spinal muscular atrophy
preferred_name 
spinal muscular atrophy, lower extremity-predominant, 2B, prenatal onset, autosomal dominant
source_ontologies 
  1. Experimental Factor Ontology
term_id 
EFO:0010264
term_name 
spinal muscular atrophy, lower extremity-predominant, 2B, prenatal onset, autosomal dominant
term_url 
http://www.ebi.ac.uk/efo/EFO_0010264