Distal Myopathy-5

Preferred Label : Distal Myopathy-5;

NCIt synonyms : MPD5;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the ADSS1 gene, encoding adenylosuccinate synthetase isozyme 1. It is characterized by adolescent onset of distal muscular weakness primarily affecting the lower limbs.;

NCI Metathesaurus CUI : CL602285;

Details

Origin ID

C206521;

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_finding
- Rare Lesion [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]

Keyword's position in hierarchy(ies) :

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