loading...| Preferred Name |
Familial Dysautonomia |
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| Synonyms |
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| Definitions |
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). |
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| ID |
http://uri.neuinfo.org/nif/nifstd/birnlex_12561 |
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| abbrev |
HSAN Type III |
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| createdDate |
2007-10-05 |
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| definingCitation |
Adams et al., Principles of Neurology, 6th ed, p1348; Nat Genet 1993;4(2):160-4 |
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| definingCitationURI |
http://www.ninds.nih.gov/disorders/dysautonomia/dysautonomia.htm |
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| 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). |
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| hasBirnlexCurator | ||
| hasCurationStatus | ||
| hasExternalSource | ||
| label |
Familial Dysautonomia |
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| MeshUid |
D004402 |
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| modifiedDate |
2007-10-05 |
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| preferred label |
Familial Dysautonomia |
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| scope note |
Do not confuse with DYSAUTONOMIA see AUTONOMIC NERVOUS SYSTEM DISEASES. |
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| synonym |
Dominant Hereditary Sensory Neuropathy, Type 3 Hereditary-Sensory and Autonomic Neuropathy Type III Neuropathy, Hereditary and Autonomic, Type III Riley-Day Syndrome |
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| subClassOf |