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Neuroscience Information Framework (NIF) Standard Ontology
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February 10, 2018
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| Id | http://uri.neuinfo.org/nif/nifstd/birnlex_12561
http://uri.neuinfo.org/nif/nifstd/birnlex_12561
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|---|---|
| Preferred Name | Familial Dysautonomia |
| 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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| Synonyms |
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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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| 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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| alternative label |
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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| preferred label | Familial Dysautonomia
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| label | Familial Dysautonomia
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| externalSourceId | D004402
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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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| scope note | Do not confuse with DYSAUTONOMIA see AUTONOMIC NERVOUS SYSTEM DISEASES.
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| hasExternalSource | |
| createdDate | October 5, 2007
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| abbrev | HSAN Type III
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| note | Do not confuse with DYSAUTONOMIA see AUTONOMIC NERVOUS SYSTEM DISEASES.
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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| definingCitationURI | |
| hasCurationStatus | |
| MeshUid | D004402
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| subClassOf | |
| Resource Identifier | D004402
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| hasBirnlexCurator | |
| editorial note | |
| type | |
| modifiedDate | October 5, 2007
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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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| Subject | Author | Type | Class | Created |
|---|---|---|---|---|
| Replacement term needed | whetzel | Comment | http://ontology.neuinfo.org/NIF/Backend/BIRNLex-OBI-proxy.owl#birnlex_11002 | 2009-11-15 |
| IAO equivalent term | whetzel | Comment | http://ontology.neuinfo.org/NIF/Backend/BIRNLex-OBI-proxy.owl#birnlex_11037 | 2009-11-15 |
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