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ONTOLOGY REPORT - ANNOTATIONS


Term:spinal muscular atrophy with lower extremity predominante 2B
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Accession:DOID:0070350 term browser browse the term
Definition: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_synonym: SMALED2B;   spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant;   spinal muscular atrophy, lower extremity-predominant, 2B, prenatal onset, autosomal dominant
 broad_synonym: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY PREDOMINANT 2, AUTOSOMAL DOMINANT
 primary_id: OMIM:618291
 alt_id: DOID:9002187
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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

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Path 1
Term Annotations click to browse term
  disease 16021
    Developmental Diseases 9337
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8165
        genetic disease 7689
          Nervous System Heredodegenerative Disorders 1897
            spinal muscular atrophy with lower extremity predominance 3
              spinal muscular atrophy with lower extremity predominante 2B 2
Path 2
Term Annotations click to browse term
  disease 16021
    disease of anatomical entity 15274
      nervous system disease 10770
        peripheral nervous system disease 2368
          neuropathy 2184
            neuromuscular disease 1718
              motor neuron disease 366
                spinal muscular atrophy 125
                  spinal muscular atrophy with lower extremity predominance 3
                    spinal muscular atrophy with lower extremity predominante 2B 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.