FB2025_05 , released December 11, 2025

CV Term Report

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General Information
Term	spinal muscular atrophy with lower extremity predominant	ID (Ontology)	DOID:0070348 (Human Disease)
Definition	A spinal muscular atrophy that has_material_basis_in autosomal dominant inheritance and is characterized by muscle weakness and wasting in the lower limbs, most affecting the thigh muscles.
Also Known As	"spinal muscular atrophy with lower extremity predominance"
Comment
Links to External Ontologies
	DO.org
Annotations
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Spanning Tree (Parents/Children)

autosomal genetic disease
 |__autosomal dominant disease__
motor neuron disease            |
 |__spinal muscular atrophy_____|
                                spinal muscular atrophy with lower extremity predominant  7 rec.
                                 |__spinal muscular atrophy with lower extremity predominant 1 2 rec.
                                 |__spinal muscular atrophy with lower extremity predominant 2A 5 rec.
                                 |__spinal muscular atrophy with lower extremity predominant 2B 2 rec.

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Relationships
Is a	autosomal dominant disease spinal muscular atrophy
Part of
Synonyms & Secondary IDs
Synonyms
	"spinal muscular atrophy with lower extremity predominance" EXACT
Secondary IDs

External Crossreferences & Linkouts
	MIM:PS158600