Autosomal Dominant Childhood-Onset Lower Extremity-Predominant Spinal Muscular Atrophy-2A

Preferred Label : Autosomal Dominant Childhood-Onset Lower Extremity-Predominant Spinal Muscular Atrophy-2A;

NCIt synonyms : SMALED2A;

NCIt definition : An autosomal dominant type of spinal muscular atrophy caused by mutation(s) in the BICD2 gene, encoding protein bicaudal D homolog 2.;

NCI Metathesaurus CUI : CL967038;

Details

Origin ID

C191766;

UMLS CUI

C4747715;

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, 2a, childhood onset, autosomal dominant [OMIM Phenotype]
Validated automatic mappings to NTBT
- Spinal muscular atrophy, lower extremity-predominant, 2a, childhood onset, 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
- BICD2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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