loading...| Preferred Name |
Riley-Day syndrome |
|
| Synonyms |
Dysautonomia, Familial hereditary sensory neuropathy type 3 neuropathy, hereditary sensory and autonomic, type 3 hereditary sensory and autonomic neuropathy type III neuropathy, hereditary sensory and autonomic, type III Riley Day syndrome familial dysautonomia hereditary sensory and autonomic neuropathy 3 hereditary sensory and autonomic neuropathy type 3 Riley-Day syndrome HSAN 3 HSAN III HSAN3 HSN 3 familial autonomic nervous dysfunction dysautonomia, familial |
|
| 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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| closeMatch | ||
| database_cross_reference |
OMIM:223900 MESH:D004402 Orphanet:1764 NCIT:C84706 SCTID:29159009 icd11.foundation:831377479 MedDRA:10039179 UMLS:C0013364 DOID:11589 GARD:7581 NORD:1069 |
|
| 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. |
|
| exactMatch |
http://linkedlifedata.com/resource/umls/id/C0013364 http://purl.obolibrary.org/obo/DOID_11589 http://purl.obolibrary.org/obo/NCIT_C84706 http://purl.obolibrary.org/obo/Orphanet_1764 |
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| has_exact_synonym |
Dysautonomia, Familial hereditary sensory neuropathy type 3 neuropathy, hereditary sensory and autonomic, type 3 hereditary sensory and autonomic neuropathy type III neuropathy, hereditary sensory and autonomic, type III Riley Day syndrome familial dysautonomia hereditary sensory and autonomic neuropathy 3 hereditary sensory and autonomic neuropathy type 3 Riley-Day syndrome HSAN 3 HSAN III HSAN3 HSN 3 |
|
| has_related_synonym |
familial autonomic nervous dysfunction dysautonomia, familial |
|
| IAO_0000233 |
https://github.com/monarch-initiative/mondo/issues/5682 https://github.com/monarch-initiative/mondo/pull/2571/ |
|
| id |
MONDO:0009131 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disease |
|
| label |
Riley-Day syndrome |
|
| notation |
MONDO:0009131 |
|
| prefLabel |
Riley-Day syndrome |
|
| subClassOf | ||
| excluded_subClassOf |
http://purl.obolibrary.org/obo/MONDO_0021154 http://purl.obolibrary.org/obo/MONDO_0005093 http://purl.obolibrary.org/obo/MONDO_0015914 |