Preferred Name |
familial dysautonomia |
|
Synonyms |
familial autonomic nervous dysfunction |
|
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. |
|
ID |
http://purl.bioontology.org/ontology/CSP/0725-5371 |
|
altLabel |
familial autonomic nervous dysfunction Riley Day syndrome |
|
cui |
C0013364 |
|
definition |
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. |
|
DID |
0725-5371 |
|
Inverse of RB | ||
Inverse of RO | ||
notation |
0725-5371 |
|
prefLabel |
familial dysautonomia |
|
tui |
T047 |
|
subClassOf |