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Ontology Browser

Term:
spinal muscular atrophy with lower extremity predominance 1 (DOID:0070351)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
spinal muscular atrophy with lower extremity predominance 1  
A spinal muscular atrophy with lower extremity predominance that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32. (DO)
spinal muscular atrophy with lower extremity predominance 2A  
spinal muscular atrophy with lower extremity predominante 2B  

Synonyms
Exact Synonyms: Kugelberg-Welander Syndrome, Autosomal Dominant ;   SMA-LED ;   SMALED1 ;   Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant ;   lower extremity-predominant spinal muscular atrophy 1, autosomal dominant ;   proximal juvenile spinal muscular atrophy, autosomal dominant
Primary IDs: MESH:C563560
Alternate IDs: OMIM:158600
Definition Sources: https://pubmed.ncbi.nlm.nih.gov/20697106/ "DO"

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.