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ONTOLOGY REPORT - ANNOTATIONS


Term:hereditary sensory and autonomic neuropathy type 5
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Accession:DOID:0070145 term browser browse the term
Definition:A hereditary sensory neuropathy characterized by impaired pain and thermal perception in the extremities and selective reduction in small myelinated fibers that has_material_basis_in homozygous mutation in the NGF gene on chromosome 1p13. (DO)
Synonyms:exact_synonym: HSAN 5;   HSAN Type V;   HSAN V;   HSAN5;   congenital sensory neuropathy with selective loss of small myelinated fibers;   hereditary sensory and autonomic neuropathy, type V;   hereditary sensory autonomic neuropathy, type 5
 alt_id: OMIM:608654
 xref: GARD:12328;   NCI:C125386;   ORDO:608654
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hereditary sensory and autonomic neuropathy type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ngf nerve growth factor JBrowse link 2 204,886,158 204,939,523 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    syndrome 5159
      Congenital Pain Insensitivity 9
        hereditary sensory and autonomic neuropathy type 5 1
Path 2
Term Annotations click to browse term
  disease 15620
    Developmental Diseases 8739
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7521
        genetic disease 7009
          monogenic disease 4562
            autosomal genetic disease 3515
              autosomal recessive disease 1981
                hereditary sensory and autonomic neuropathy type 5 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.