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ONTOLOGY REPORT - ANNOTATIONS


Term:Riley-Day syndrome
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Accession:DOID:11589 term browser browse the term
Definition:An autosomal disorder of the peripheral and autonomic nervous systems limited to individuals of Ashkenazic Jewish descent. Clinical manifestations are present at birth and include diminished lacrimation, defective thermoregulation, orthostatic hypotension (HYPOTENSION, ORTHOSTATIC), fixed pupils, excessive SWEATING, loss of pain and temperature sensation, and absent reflexes. Pathologic features include reduced numbers of small diameter peripheral nerve fibers and autonomic ganglion neurons. (From Adams et al., Principles of Neurology, 6th ed, p1348; Nat Genet 1993;4(2):160-4)
Synonyms:exact_synonym: DYS;   FD;   HSAN (Hereditary Sensory and Autonomic Neuropathy) Type III;   HSAN 3;   HSAN III;   HSAN type III;   HSAN3;   HSN-III;   Hereditary Sensory Neuropathy Type 3;   Hereditary Sensory and Autonomic Neuropathy 3;   Hereditary Sensory and Autonomic Neuropathy Type III;   dominant hereditary sensory neuropathy, type 3;   dominant hereditary sensory neuropathy, type III;   familial autonomic nervous dysfunction;   familial dysautonomia;   hereditary and autonomic neuropathy, type III
 primary_id: MESH:D004402
 alt_id: OMIM:223900
 xref: ICD10CM:G90.1;   NCI:C84706
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Riley-Day syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Elp1 elongator complex protein 1 JBrowse link 5 73,503,406 73,552,798 RGD:5129156
RGD:7240710
RGD:8554872
RGD:5129155

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Path 1
Term Annotations click to browse term
  disease 15502
    syndrome 5379
      Riley-Day syndrome 1
        Hereditary Sensorimotor Neuropathy with Upper Motor Neuron, Visual Pathway and Autonomic Disturbance 0
Path 2
Term Annotations click to browse term
  disease 15502
    disease of anatomical entity 14856
      nervous system disease 10270
        central nervous system disease 8409
          neurodegenerative disease 2942
            Nervous System Heredodegenerative Disorders 1728
              hereditary sensory neuropathy 29
                Riley-Day syndrome 1
                  Hereditary Sensorimotor Neuropathy with Upper Motor Neuron, Visual Pathway and Autonomic Disturbance 0
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.