OBO ID: DOID:0111064
Term Name: autosomal recessive distal hereditary motor neuronopathy 1 Search Ontology:
Synonyms:
  • autosomal recessive distal spinal muscular atrophy 1
  • autosomal recessive spinal muscular atrophy with respiratory distress
  • dHMN6
  • diaphragmatic spinal muscular atrophy
  • distal hereditary motor neuropathy type 6
  • distal spinal muscular atrophy 1
  • distal-HMN type 6
  • DSMA1
  • severe infantile axonal neuropathy with respiratory failure type 1
  • SIANRF
  • SMARD1
  • spinal muscular atrophy with respiratory distress type 1
Definition: A spinal muscular atrophy characterized by autosomal recessive inheritance of severe respiratory distress resulting from diaphragmatic paralysis that predominantly involves the upper limbs and distal muscles that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13. (2)
References:
Ontology: Human Disease   ( DOID:0111064 )
OTHER autosomal recessive distal hereditary motor neuronopathy 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
IGHMBP2 Neuronopathy, distal hereditary motor, autosomal recessive 1 604320
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None