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DO Term : autosomal recessive distal hereditary motor neuronopathy 1 [DOID:0111064] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • spinal muscular atrophy with respiratory distress type 1,
  • severe infantile axonal neuropathy with respiratory failure type 1,
  • diaphragmatic spinal muscular atrophy,
  • dHMN6,
  • OMIM:604320,
  • distal-HMN type 6,
  • autosomal recessive distal spinal muscular atrophy 1,
  • DSMA1,
  • distal hereditary motor neuropathy type 6,
  • autosomal recessive spinal muscular atrophy with respiratory distress,
  • ICD10CM:G12.2,
  • SIANRF,
  • 604320,
  • distal spinal muscular atrophy 1,
  • SMARD1,
  • ORDO:98920
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Disease

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Ontology

Ontology Term --> All ancestors

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Ontology Term --> Direct children

Ontology Term --> Direct parents





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