Autosomal Recessive Distal Hereditary Motor Neuronopathy 8

Preferred Label : Autosomal Recessive Distal Hereditary Motor Neuronopathy 8;

NCIt synonyms : HMNR8; Sorbitol Dehydrogenase Deficiency with Peripheral Neuropathy; SORDD;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the SORD gene, encoding sorbitol dehydrogenase. It is characterized by distal muscle weakness mainly affecting the lower limbs.;

Details

Origin ID

C206095;

Excludes anatomical site(s)
- Bone [NCIt concept]
Has associated anatomic sites
- Connective and Soft Tissue [NCIt concept]
- Musculoskeletal System [NCIt concept]
- Nervous System [NCIt concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_normal_tissue_origin
- Connective and Soft Tissue [NCIt concept]
- Soft Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Peripheral Nerve [NCIt concept]
disease_mapped_to_gene
- SORD Gene [NCIt concept]

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