Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:alsoKnownAs |
gptkb:Familial_Dysautonomia
gptkb:Riley-Day_syndrome |
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
1949
|
| https://www.w3.org/2000/01/rdf-schema#label |
HSAN III
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:IKBKAP_gene
|
| gptkbp:namedAfter |
gptkb:Conrad_Riley
gptkb:Richard_Day |
| gptkbp:OMIM |
223900
|
| gptkbp:partOf |
gptkb:Hereditary_sensory_and_autonomic_neuropathies
|
| gptkbp:prevalence |
higher in Ashkenazi Jewish population
|
| gptkbp:symptom |
gptkb:orthostatic_hypotension
dysautonomia insensitivity to pain poor growth absent tears gait ataxia |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:hereditary_sensory_and_autonomic_neuropathy_type_III
|
| gptkbp:bfsLayer |
6
|