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ONTOLOGY REPORT - ANNOTATIONS


Term:adult spinal muscular atrophy
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Accession:DOID:0050529 term browser browse the term
Definition:A spinal muscular atrophy that is characterized by progressive muscular weakness and motor disability that typically presents in the third decade of life and has_material_basis_in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons. (DO)
Synonyms:exact_synonym: SMA4;   spinal muscular atrophy 4;   spinal muscular atrophy, adult form;   spinal muscular atrophy, proximal, adult, autosomal recessive;   spinal muscular atrophy, type IV
 primary_id: MESH:C538417;   MESH:C563948
 alt_id: OMIM:271150
 xref: ORDO:83420
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adult spinal muscular atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smn1 survival of motor neuron 1, telomeric JBrowse link 2 30,360,101 30,371,147 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16017
    disease of anatomical entity 15273
      nervous system disease 10762
        neurodegenerative disease 3140
          motor neuron disease 362
            spinal muscular atrophy 125
              adult spinal muscular atrophy 1
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
                  adult spinal muscular atrophy 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.