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familial dysautonomia
Used for:
familial autonomic nervous dysfunction
Used for:
Riley Day syndrome
Broader Terms:
congenital nervous system disorder
Broader Terms:
genetic disorder
Related Terms:
hereditary sensory neuropathy
Related Terms:
psychosis
Scope Note:
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, 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.
Term Number:
0725-5371
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