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ONTOLOGY REPORT - ANNOTATIONS


Term:distal hereditary motor neuronopathy type 2D
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Accession:DOID:0111210 term browser browse the term
Definition:A distal hereditary motor neuropathy type 2 that has_material_basis_in heterozygous mutation in FBXO38 on 5q32. (DO)
Synonyms:exact_synonym: DHMN2D;   DISTAL HEREDITARY MOTOR NEURONOPATHY 2D;   Distal Hereditary Motor Neuronopathy, Type IID;   HMN IID;   HMN2D;   distal hereditary motor neuropathy type IID;   distal spinal muscular atrophy with calf predominance;   distal spinal muscular atrophy, autosomal dominant, calf-predominant
 primary_id: OMIM:615575
 alt_id: RDO:9001002
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distal hereditary motor neuronopathy type 2D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbxo38 F-box protein 38 JBrowse link 18 57,827,391 57,874,515 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16022
    disease of anatomical entity 15275
      nervous system disease 10770
        neurodegenerative disease 3144
          motor neuron disease 366
            spinal muscular atrophy 125
              autosomal dominant distal hereditary motor neuronopathy 33
                distal hereditary motor neuronopathy type 2 4
                  distal hereditary motor neuronopathy type 2D 1
Path 2
Term Annotations click to browse term
  disease 16022
    disease of anatomical entity 15275
      nervous system disease 10770
        peripheral nervous system disease 2367
          neuropathy 2183
            neuromuscular disease 1718
              motor neuron disease 366
                spinal muscular atrophy 125
                  autosomal dominant distal hereditary motor neuronopathy 33
                    distal hereditary motor neuronopathy type 2 4
                      distal hereditary motor neuronopathy type 2D 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.