autosomal recessive distal hereditary motor neuronopathy 1

Disease Ontology Term: autosomal recessive distal hereditary motor neuronopathy 1

DO ID: DOID:0111064
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: 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-HMN type 6, distal spinal muscular atrophy 1, DSMA1, severe infantile axonal neuropathy with respiratory failure type 1, SIANRF, SMARD1, spinal muscular atrophy with respiratory distress type 1

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Disease Ontology Term: autosomal recessive distal hereditary motor neuronopathy 1

Ontology Diagram

Annotations

Manually Curated

High-throughput

Computational