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DO Term : spinal muscular atrophy with lower extremity predominant 2B [DOID:0070350] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • OMIM:618291,
  • spinal muscular atrophy with lower extremity predominance 2B,
  • 618291
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Disease

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Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents