loading...| Preferred Name |
Familial Dysautonomia |
|
| Synonyms |
Hereditary-Sensory and Autonomic Neuropathy Type III|Dominant Hereditary Sensory Neuropathy, Type 3|Riley-Day Syndrome|Neuropathy, Hereditary and Autonomic, Type III |
|
| ID |
http://bioontology.org/projects/ontologies/birnlex#birnlex_12561 |
|
| abbrev |
HSAN Type III |
|
| class_or_indiv |
true |
|
| 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 (MeSH). |
|
| external_id_urls |
http://www.nlm.nih.gov/cgi/mesh/2008/MB_cgi?field=uid&term=D004402 |
|
| external_ids |
meshUID:D004402 |
|
| label |
Familial Dysautonomia |
|
| mod_date |
2007-10-05 |
|
| preferred_label |
Familial Dysautonomia |
|
| prefixIRI |
birnlex_12561 |
|
| retired |
false |
|
| synonyms |
Hereditary-Sensory and Autonomic Neuropathy Type III|Dominant Hereditary Sensory Neuropathy, Type 3|Riley-Day Syndrome|Neuropathy, Hereditary and Autonomic, Type III |
|
| subClassOf |
http://bioontology.org/projects/ontologies/birnlex#birnlex_12579 |