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ONTOLOGY REPORT - ANNOTATIONS


Term:spinal muscular atrophy with lower extremity predominance
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Accession:DOID:0070348 term browser browse the term
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. (DO)
Synonyms:xref: OMIM:PS158600
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spinal muscular atrophy with lower extremity predominance 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 6 134,958,854 135,085,769 RGD:7240710
RGD:8554872
spinal muscular atrophy with lower extremity predominance 2A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bicd2 BICD cargo adaptor 2 JBrowse link 17 15,673,649 15,718,035 RGD:7240710
RGD:8554872
spinal muscular atrophy with lower extremity predominante 2B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bicd2 BICD cargo adaptor 2 JBrowse link 17 15,673,649 15,718,035 RGD:8554872
RGD:7240710
G Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 JBrowse link MT 13,543 14,061 RGD:8657128

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16017
    Developmental Diseases 9307
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8132
        genetic disease 7652
          Nervous System Heredodegenerative Disorders 1898
            spinal muscular atrophy with lower extremity predominance 3
              spinal muscular atrophy with lower extremity predominance 1 1
              spinal muscular atrophy with lower extremity predominance 2A 1
              spinal muscular atrophy with lower extremity predominante 2B 2
Path 2
Term Annotations click to browse term
  disease 16017
    disease of anatomical entity 15273
      nervous system disease 10762
        peripheral nervous system disease 2363
          neuropathy 2179
            neuromuscular disease 1712
              motor neuron disease 362
                spinal muscular atrophy 125
                  spinal muscular atrophy with lower extremity predominance 3
                    spinal muscular atrophy with lower extremity predominance 1 1
                    spinal muscular atrophy with lower extremity predominance 2A 1
                    spinal muscular atrophy with lower extremity predominante 2B 2
paths to the root

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