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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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Path 1
Term Annotations click to browse term
  disease 0
    disease of anatomical entity 0
      nervous system disease 0
        neurodegenerative disease 0
          motor neuron disease 0
            spinal muscular atrophy 0
              autosomal dominant distal hereditary motor neuronopathy 0
                distal hereditary motor neuronopathy type 2 0
                  distal hereditary motor neuronopathy type 2D 0
Path 2
Term Annotations click to browse term
  disease 0
    disease of anatomical entity 0
      nervous system disease 0
        peripheral nervous system disease 0
          neuropathy 0
            neuromuscular disease 0
              motor neuron disease 0
                spinal muscular atrophy 0
                  autosomal dominant distal hereditary motor neuronopathy 0
                    distal hereditary motor neuronopathy type 2 0
                      distal hereditary motor neuronopathy type 2D 0
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.