Autosomal Dominant Lower Extremity-Predominant Spinal Muscular Atrophy-1

Preferred Label : Autosomal Dominant Lower Extremity-Predominant Spinal Muscular Atrophy-1;

NCIt synonyms : SMALED1;

NCIt definition : An autosomal dominant type of spinal muscular atrophy caused by mutation(s) in the DYNC1H1 gene, encoding cytoplasmic dynein 1 heavy chain 1.;

Details

Origin ID

C191765;

UMLS CUI

C5780022;

Currated CISMeF NLP mapping
- DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy [ORDO Disease]
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]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant [OMIM Phenotype]
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_mapped_to_gene
- DYNC1H1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients