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ONTOLOGY REPORT - ANNOTATIONS


Term:X-linked distal spinal muscular atrophy 3
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Accession:DOID:0111196 term browser browse the term
Definition:A spinal muscular atrophy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with absence of cognitive, pyramidal, or sensory impairment that has_material_basis_in homozygous or hemizygous mutation in ATP7A on Xq21.1. (DO)
Synonyms:exact_synonym: ATP7A-related distal motor neuropathy;   DSMAX;   SMAX3;   X-linked dHMN3;   X-linked dSMA3;   X-linked distal hereditary motor neuropathy type 3;   X-linked distal spinal muscular atrophy, recessive
 primary_id: MESH:C564506
 alt_id: OMIM:300489;   RDO:0013448
 xref: ORDO:139557
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X-linked distal spinal muscular atrophy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp7a ATPase copper transporting alpha JBrowse link X 77,076,085 77,193,644 RGD:7240710
RGD:8554872
RGD:11252181
RGD:11340198

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Path 1
Term Annotations click to browse term
  disease 15502
    Developmental Diseases 8872
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7669
        genetic disease 7157
          monogenic disease 4798
            X-linked monogenic disease 856
              X-linked distal spinal muscular atrophy 3 1
Path 2
Term Annotations click to browse term
  disease 15502
    disease of anatomical entity 14856
      nervous system disease 10270
        peripheral nervous system disease 2170
          neuropathy 1995
            neuromuscular disease 1565
              motor neuron disease 352
                spinal muscular atrophy 121
                  X-linked distal spinal muscular atrophy 3 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.