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Ontology Browser
Term:
spinal muscular atrophy with lower extremity predominant 2B (DOID:0070350)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (1) Bonobo: (1) Dog: (2) Squirrel: (1) Pig: (2) Naked Mole-rat: (1) Green Monkey: (1)
Parent Terms Term With Siblings Child Terms
spinal muscular atrophy with lower extremity predominant 1  
spinal muscular atrophy with lower extremity predominant 2A  
spinal muscular atrophy with lower extremity predominant 2B  
A spinal muscular atrophy with lower extremity predominance that is characterized by decreased fetal movements and are congenital contractures consistent with arthrogryposis multiplex congenita and that has_material_basis_in heterozygous mutation in the BICD2 gene on chromosome 9q22. (DO)

Synonyms
Exact Synonyms: SMALED2B ;   spinal muscular atrophy with lower extremity predominance 2B ;   spinal muscular atrophy with predominant lower extremity 2B ;   spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant ;   spinal muscular atrophy, lower extremity-predominant, 2B, prenatal onset, autosomal dominant
Broad Synonyms: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY PREDOMINANT 2, AUTOSOMAL DOMINANT
Alternate IDs: DOID:9002187
Xrefs: EFO:0010264 ;   MIM:618291 ;   MONDO:0032660
Definition Sources: https://pubmed.ncbi.nlm.nih.gov/28635954/ "DO" "DO"

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