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ONTOLOGY REPORT - ANNOTATIONS


Term:spinal muscular atrophy with lower extremity predominance 1
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Accession:DOID:0070351 term browser browse the term
Definition:A spinal muscular atrophy with lower extremity predominance that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32. (DO)
Synonyms:exact_synonym: Kugelberg-Welander Syndrome, Autosomal Dominant;   SMA-LED;   SMALED1;   Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant;   lower extremity-predominant spinal muscular atrophy 1, autosomal dominant;   proximal juvenile spinal muscular atrophy, autosomal dominant
 primary_id: MESH:C563560
 alt_id: OMIM:158600
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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

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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 predominance 1 1
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 predominance 1 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.