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ONTOLOGY REPORT - ANNOTATIONS


Term:hereditary sensory neuropathy type 4
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Accession:DOID:0070146 term browser browse the term
Definition:A hereditary sensory neuropathy characterized by insensitivity to pain and anhidrosis that has_material_basis_in homozygous or compound heterozygous mutation in the NTRK1 gene on chromosome 1q23. (DO)
Synonyms:exact_synonym: CIPA;   HSAN 4;   HSAN IV;   HSAN type IV;   HSAN4;   congenital insensitivity to pain with anhidrosis;   congenital pain insensitivity with anhidrosis;   congenital sensory neuropathy with anhidrosis;   familial dysautonomia, type II;   hereditary sensory and autonomic neuropathy 4;   hereditary sensory and autonomic neuropathy IV;   hereditary sensory and autonomic neuropathy, type 4;   hereditary sensory and autonomic neuropathy, type IV;   hereditary sensory autonomic neuropathy, type 4;   hereditary sensory neuropathy type IV
 primary_id: OMIM:256800
 xref: GARD:3006;   NCI:C118633;   ORDO:642
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hereditary sensory neuropathy type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Insrr insulin receptor-related receptor JBrowse link 2 187,161,817 187,181,400 RGD:8554872
G Ntrk1 neurotrophic receptor tyrosine kinase 1 JBrowse link 2 187,143,568 187,160,373 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15625
    syndrome 5162
      Congenital Pain Insensitivity 9
        hereditary sensory neuropathy type 4 2
Path 2
Term Annotations click to browse term
  disease 15625
    disease of anatomical entity 14954
      nervous system disease 10224
        sensory system disease 4684
          skin disease 2467
            sweat gland disease 35
              hypohidrosis 18
                anhidrosis 3
                  hereditary sensory neuropathy type 4 2
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