loading...| Preferred Name |
Dysautonomia, Familial [Disease/Finding] |
|
| Synonyms |
Dysautonomia, Familial |
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| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000001015 |
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| altLabel |
Dysautonomia, Familial Type 3 Hereditary Sensory Neuropathy, Dominant HSN-III Hereditary Sensory Neuropathy, Dominant, Type 3 HSAN3 HSAN Type III HSAN (Hereditary Sensory and Autonomic Neuropathy) Type III Riley-Day Syndrome HSAN 3 Hereditary-Sensory and Autonomic Neuropathy Type III Neuropathy, Hereditary and Autonomic, Type III Type III Hereditary Sensory Neuropathy, Dominant Hereditary Sensory Neuropathy, Type 3, Dominant Hereditary Sensory Neuropathy Type 3 Familial Dysautonomia Neuropathy, Hereditary Sensory And Autonomic, Type III Hereditary Sensory and Autonomic Neuropathy 3 Dominant Hereditary Sensory Neuropathy, Type III Hereditary Sensory Neuropathy, Dominant, Type III HSAN III |
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| cui |
C0013364 |
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| MESH 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. (From Adams et al., Principles of Neurology, 6th ed, p1348; Nat Genet 1993;4(2):160-4) |
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| MESH DUI |
D004402 |
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| MeSH name |
Dysautonomia, Familial |
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| MESH UI |
M0006912 |
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| NDFRT kind |
DISEASE_KIND |
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| notation |
N0000001015 |
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| NUI |
N0000001015 |
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| prefLabel |
Dysautonomia, Familial [Disease/Finding] |
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| SNOMED CID |
29159009 |
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| tui |
T047 T019 |
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| subClassOf |