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Last uploaded:
September 25, 2013
| 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.
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| Synonyms |
familial autonomic nervous dysfunction
Riley Day syndrome
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| 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. |
|---|---|
| altLabel |
familial autonomic nervous dysfunction
Riley Day syndrome
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| prefLabel | familial dysautonomia
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| Inverse of RO | |
| type | |
| tui | T047
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| notation | 0725-5371
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| Semantic type UMLS property | |
| DID | 0725-5371
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| cui | C0013364
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| Inverse of RB | |
| subClassOf |
| Delete | Subject | Author | Type | Created |
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| No notes to display |