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ONTOLOGY REPORT - ANNOTATIONS


Term:hereditary neuropathy with liability to pressure palsies
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Accession:DOID:0060843 term browser browse the term
Definition:A neuropathy characterized by autosomal dominant inheritance of peroneal muscle weakness, peripheral neuropathy, hyporeflexia, tomacula, segmental demyelination/remyelination, decreased motor nerve conduction that has_material_basis_in deletion or point mutation of the PMP22 gene on chromosome 17p12. (DO)
Synonyms:exact_synonym: HEREDITARY LIABILITY TO PRESSURE PALSIES;   HNPP;   compression neuropathy;   current pressure-sensitive neuropathy;   familial pressure sensitive neuropathy;   familial recurrent polyneuropathy;   hereditary neuropathy with liability to pressure palsy;   hereditary pressure sensitive neuropathy;   heterozygous microdeletion 17p11.2p12;   inherited tendency to pressure palsies;   potato-grubbing palsy;   tomaculous neuropathy;   tulip-bulb digger's palsy
 primary_id: MESH:C536965
 alt_id: OMIM:162500;   RDO:0002701
 xref: ORDO:640
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hereditary neuropathy with liability to pressure palsies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:8554872
G Pmp22 peripheral myelin protein 22 JBrowse link 10 49,538,588 49,568,583 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        peripheral nervous system disease 2125
          neuropathy 1948
            hereditary neuropathy with liability to pressure palsies 2
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        peripheral nervous system disease 2125
          neuropathy 1948
            neuromuscular disease 1520
              muscular disease 957
                Arthrogryposis 53
                  hereditary neuropathy with liability to pressure palsies 2
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