loading...| Preferred Name |
Riley-Day syndrome |
|
| Synonyms |
Riley-Day syndrome HSAN 3 HSAN III HSAN3 hereditary sensory and autonomic neuropathy type 3 neuropathy, hereditary sensory and autonomic, type III familial dysautonomia hereditary sensory and autonomic neuropathy type III dysautonomia, familial hereditary sensory and autonomic neuropathy 3 neuropathy, hereditary sensory and autonomic, type 3 hereditary sensory neuropathy type 3 Riley Day syndrome familial autonomic nervous dysfunction HSN 3 |
|
| Definitions |
A congenital disorder caused by mutations in the IKBKAP gene. It is characterized by damage of the sympathetic and parasympathetic and sensory nervous system. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0009131 |
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| has_exact_synonym |
Riley-Day syndrome HSAN 3 HSAN III HSAN3 hereditary sensory and autonomic neuropathy type 3 neuropathy, hereditary sensory and autonomic, type III familial dysautonomia hereditary sensory and autonomic neuropathy type III |
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| has_related_synonym |
dysautonomia, familial hereditary sensory and autonomic neuropathy 3 neuropathy, hereditary sensory and autonomic, type 3 hereditary sensory neuropathy type 3 Riley Day syndrome familial autonomic nervous dysfunction HSN 3 |
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| IAO_0000233 | ||
| label |
Riley-Day syndrome |
|
| prefixIRI |
MONDO:0009131 |
|
| prefLabel |
Riley-Day syndrome |
|
| textual definition |
A congenital disorder caused by mutations in the IKBKAP gene. It is characterized by damage of the sympathetic and parasympathetic and sensory nervous system. |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0015366 http://purl.obolibrary.org/obo/MONDO_0015914 |