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ONTOLOGY REPORT - ANNOTATIONS


Term:childhood spinal muscular atrophy
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Accession:DOID:0060160 term browser browse the term
Definition:A spinal muscular atrophy that is associated with the survival of motor neuron protein in childhood. (DO)
Synonyms:exact_synonym: Spinal Muscular Atrophy 1;   Spinal Muscular Atrophy, Mild Childhood and Adolescent Form;   juvenile muscular atrophy;   juvenile spinal muscular atrophy;   spinal muscular atrophies of childhood;   spinal muscular atrophy of childhood;   survival motor neuron spinal muscular atrophy
 primary_id: MESH:D014897
 xref: NCI:C85076;   ORDO:70
For additional species annotation, visit the Alliance of Genome Resources.


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childhood spinal muscular atrophy 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:11554173
G Smn1 survival of motor neuron 1, telomeric JBrowse link 2 30,360,101 30,371,147 RGD:11554173
intermediate 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
juvenile 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:8554872
RGD:7240710
Spinal Muscular Atrophy with Congenital Bone Fractures 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trip4 thyroid hormone receptor interactor 4 JBrowse link 8 71,369,121 71,533,281 RGD:8554872
RGD:7240710
Spinal Muscular Atrophy with Congenital Bone Fractures 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ascc1 activating signal cointegrator 1 complex subunit 1 JBrowse link 20 29,558,330 29,648,899 RGD:7240710
RGD:8554872
spinal muscular atrophy with progressive myoclonic epilepsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Asah1 N-acylsphingosine amidohydrolase 1 JBrowse link 16 53,998,604 54,030,006 RGD:7240710
RGD:8554872
Werdnig-Hoffmann disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ighmbp2 immunoglobulin mu DNA binding protein 2 JBrowse link 1 218,509,274 218,531,922 RGD:8554872
G Smn1 survival of motor neuron 1, telomeric JBrowse link 2 30,360,101 30,371,147 RGD:8554872
RGD:7240710
G Vps54 VPS54 subunit of GARP complex JBrowse link 14 106,153,407 106,207,715 RGD:13592920

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15984
    Developmental Diseases 9281
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8095
        genetic disease 7613
          Nervous System Heredodegenerative Disorders 1896
            childhood spinal muscular atrophy 7
              Hamano Tsukamoto Syndrome 0
              Monomelic Amyotrophy 0
              Spinal Muscular Atrophy with Congenital Bone Fractures + 2
              Spinal Muscular Atrophy with Microcephaly and Mental Subnormality 0
              Werdnig-Hoffmann disease 3
              intermediate spinal muscular atrophy 1
              juvenile spinal muscular atrophy 1
              spinal muscular atrophy type 0 0
              spinal muscular atrophy with progressive myoclonic epilepsy 1
Path 2
Term Annotations click to browse term
  disease 15984
    disease of anatomical entity 15262
      nervous system disease 10752
        peripheral nervous system disease 2360
          neuropathy 2175
            neuromuscular disease 1707
              motor neuron disease 363
                spinal muscular atrophy 126
                  childhood spinal muscular atrophy 7
                    Hamano Tsukamoto Syndrome 0
                    Monomelic Amyotrophy 0
                    Spinal Muscular Atrophy with Congenital Bone Fractures + 2
                    Spinal Muscular Atrophy with Microcephaly and Mental Subnormality 0
                    Werdnig-Hoffmann disease 3
                    intermediate spinal muscular atrophy 1
                    juvenile spinal muscular atrophy 1
                    spinal muscular atrophy type 0 0
                    spinal muscular atrophy with progressive myoclonic epilepsy 1
paths to the root

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