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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 survival motor neuron 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;   RDO:0004392
For additional species annotation, visit the Alliance of Genome Resources.


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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 15620
    Developmental Diseases 8739
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7521
        genetic disease 7009
          Nervous System Heredodegenerative Disorders 1718
            survival motor neuron spinal muscular atrophy 7
              adult spinal muscular atrophy 1
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        peripheral nervous system disease 2127
          neuropathy 1950
            neuromuscular disease 1522
              motor neuron disease 344
                spinal muscular atrophy 111
                  survival motor neuron spinal muscular atrophy 7
                    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.