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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
Hamano Tsukamoto Syndrome 
intermediate spinal muscular atrophy  
juvenile spinal muscular atrophy  
A childhood spinal muscular atrophy that has age of onset after 18 months and is characterized by muscle weakness after early childhood and the ability to stand and walk and that has_material_basis_in homozygous or compound heterozygous mutation in the SMN1 gene on chromosome 5q13. (DO)
Monomelic Amyotrophy  
spinal muscular atrophy type 0 
Spinal Muscular Atrophy with Congenital Bone Fractures +   
Spinal Muscular Atrophy with Microcephaly and Mental Subnormality 
spinal muscular atrophy with progressive myoclonic epilepsy  
Werdnig-Hoffmann disease  

Synonyms
Exact Synonyms: KWS ;   Kugelberg Welander disease ;   Kugelberg Welander syndrome ;   SMA III ;   SMA3 ;   spinal muscular atrophy type 3 ;   spinal muscular atrophy type III ;   spinal muscular atrophy, familial ;   spinal muscular atrophy, mild childhood and adolescent form
Primary IDs: OMIM:253400
Xrefs: ICD9CM:335.11 ;   NCI:C118847
Definition Sources: https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy "DO" "DO"

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