Id http://purl.bioontology.org/ontology/CSP/0725-5371
http://purl.bioontology.org/ontology/CSP/0725-5371
Preferred Name

familial dysautonomia

Definitions
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.
Synonyms
familial autonomic nervous dysfunction
Riley Day syndrome
Type http://www.w3.org/2002/07/owl#Class
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