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;   Dominant Hereditary Sensory Neuropathy, Type III;   FD;   Familial Dysautonomia;   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;   Type 3 Hereditary Sensory Neuropathy, Dominant;   familial autonomic nervous dysfunction;   hereditary and autonomic neuropathy, type III
 primary_id: MESH:D004402
 alt_id: OMIM:223900;   RDO:0005401
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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 14875
    syndrome 4220
      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 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          neurodegenerative disease 2092
            Nervous System Heredodegenerative Disorders 1168
              hereditary sensory neuropathy 21
                Riley-Day syndrome 1
                  Hereditary Sensorimotor Neuropathy with Upper Motor Neuron, Visual Pathway and Autonomic Disturbance 0
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