ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal recessive distal spinal muscular atrophy 1
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Accession:DOID:0111064 term browser browse the term
Definition:A spinal muscular atrophy characterized by autosomal recessive inheritance of severe respiratory distress resulting from diaphragmatic paralysis that predominantly involves the upper limbs and distal muscles that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13. (DO)
Synonyms:exact_synonym: DHMN6;   Distal Spinal Muscular Atrophy Type 1;   Dsma1;   HMN VI;   Hmn6;   Hmnvi;   Neuronopathy, Severe Infantile Axonal, With Respiratory Failure;   SMARD1;   Severe Infantile Axonal Neuropathy With Respiratory Failure;   Sianrf;   autosomal recessive spinal muscular atrophy with respiratory distress;   diaphragmatic spinal muscular atrophy;   distal hereditary motor neuronopathy type VI;   distal hereditary motor neuropathy type 6;   distal-HMN type 6;   severe infantile axonal neuropathy with respiratory failure type 1;   spinal muscular atrophy with respiratory distress;   spinal muscular atrophy with respiratory distress type 1
 primary_id: MESH:C536880
 alt_id: OMIM:604320;   RDO:0002595
 xref: ORDO:98920
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autosomal recessive distal spinal muscular atrophy 1 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:737748
RGD:8554872
RGD:7240710
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      respiratory system disease 2375
        lung disease 1370
          newborn respiratory distress syndrome 22
            autosomal recessive distal spinal muscular atrophy 1 2
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        peripheral nervous system disease 2009
          neuropathy 1830
            neuromuscular disease 1411
              motor neuron disease 302
                spinal muscular atrophy 108
                  autosomal recessive distal spinal muscular atrophy 1 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.