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DO Term : autosomal recessive distal hereditary motor neuronopathy 8 [DOID:0081427] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An autosomal recessive distal hereditary motor neuronopathy characterized by onset of distal muscle weakness mainly affecting the lower limbs and resulting in difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SORD gene on chromosome 15q21.
  • synonyms:
  • 618912,
  • DOID:0081376,
  • sorbitol dehydrogenase deficiency with peripheral neuropathy,
  • SORDD,
  • OMIM:618912
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents