loading...| Preferred Name | Familial dysautonomia | |
| Synonyms |
HSAN3 Hereditary sensory and autonomic neuropathy type 3 Hereditary sensory and autonomic neuropathy type III Riley-Day syndrome |
|
| Definitions |
A rare hereditary sensory and autonomic neuropathy characterized by decreased pain and temperature perception, absent deep tendon reflexes, proprioceptive ataxia, afferent baroreflex failure and progressive optic neuropathy. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_1764 |
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| alternative_term |
HSAN3 Hereditary sensory and autonomic neuropathy type 3 Hereditary sensory and autonomic neuropathy type III Riley-Day syndrome |
|
| definition |
A rare hereditary sensory and autonomic neuropathy characterized by decreased pain and temperature perception, absent deep tendon reflexes, proprioceptive ataxia, afferent baroreflex failure and progressive optic neuropathy. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1764 |
|
| has_age_of_onset |
Childhood Infancy Neonatal |
|
| has_inheritance |
Autosomal recessive |
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| hasDbXref |
OMIM:223900 MeSH:D004402 ICD-10:G90.1 ICD-11:8C21.1 MedDRA:10039179 UMLS:C0013364 |
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| label |
Familial dysautonomia |
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| notation |
ORPHA:1764 |
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| part_of |
http://www.orpha.net/ORDO/Orphanet_519286 http://www.orpha.net/ORDO/Orphanet_182058 http://www.orpha.net/ORDO/Orphanet_79381 http://www.orpha.net/ORDO/Orphanet_522568 http://www.orpha.net/ORDO/Orphanet_477808 http://www.orpha.net/ORDO/Orphanet_140477 |
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| prefixIRI |
ORDO:Orphanet_1764 |
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| prefLabel |
Familial dysautonomia |
|
| present_in |
Specific population AND has_birth_prevalence_average_value : 18.5 AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_point_prevalence_range : <1 / 1 000 000 |
|
| treeView |
http://www.orpha.net/ORDO/Orphanet_519286 http://www.orpha.net/ORDO/Orphanet_182058 http://www.orpha.net/ORDO/Orphanet_79381 http://www.orpha.net/ORDO/Orphanet_522568 http://www.orpha.net/ORDO/Orphanet_477808 http://www.orpha.net/ORDO/Orphanet_140477 |
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| subClassOf |