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DeCS
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Descriptor English:
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Dysautonomia, Familial
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Descriptor Spanish:
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Disautonomía Familiar
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Descriptor Portuguese:
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Disautonomia Familiar
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Synonyms English:
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Dominant Hereditary Sensory Neuropathy, Type III
Familial Dysautonomia
HSAN (Hereditary Sensory and Autonomic Neuropathy) Type III
HSAN 3
HSAN III
HSAN Type III
HSAN3
HSN-III
Hereditary Sensory Neuropathy Type 3
Hereditary Sensory Neuropathy, Dominant, Type 3
Hereditary Sensory Neuropathy, Dominant, Type III
Hereditary Sensory Neuropathy, Type 3, Dominant
Hereditary Sensory and Autonomic Neuropathy 3
Hereditary Sensory and Autonomic Neuropathy Type III
Hereditary-Sensory and Autonomic Neuropathy Type III
Neuropathy, Hereditary Sensory And Autonomic, Type III
Neuropathy, Hereditary and Autonomic, Type III
Riley Day Syndrome
Riley-Day Syndrome
Type 3 Hereditary Sensory Neuropathy, Dominant
Type III Hereditary Sensory Neuropathy, Dominant
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Tree Number:
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C10.177.575.300
C10.500.250.309
C10.574.500.493.250
C10.668.829.800.175.250
C16.131.666.310.309
C16.320.400.415.309
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Definition English:
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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. (From Adams et al., Principles of Neurology, 6th ed, p1348; Nat Genet 1993;4(2):160-4) |
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Indexing Annotation English:
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PRIMARY DYSAUTONOMIAS is also available
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History Note English:
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1981; uss AUTONOMIC DYSFUNCTION 1963-1980
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Allowable Qualifiers English:
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Record Number:
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23989
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Unique Identifier:
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D004402
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Occurrence in VHL:
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Similar:
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DeCS
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