Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
autonomic nervous system disorder |
| gptkbp:affects |
autonomic nervous system
sensory nervous system |
| gptkbp:alsoKnownAs |
gptkb:Riley-Day_syndrome
|
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
1949
|
| gptkbp:frequency |
rare
|
| https://www.w3.org/2000/01/rdf-schema#label |
Familial Dysautonomia
|
| gptkbp:ICD-10_code |
gptkb:G90.0
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mortalityRate |
reduced life expectancy
|
| gptkbp:mutationAssociatedWith |
gptkb:IKBKAP_gene
|
| gptkbp:notableContributor |
gptkb:Conrad_M._Riley
gptkb:Richard_Day |
| gptkbp:OMIM |
223900
|
| gptkbp:prevalence |
most common in Ashkenazi Jewish population
|
| gptkbp:symptom |
difficulty swallowing
absence of tears insensitivity to pain unstable blood pressure poor temperature regulation frequent lung infections |
| gptkbp:treatment |
supportive care
symptom management |
| gptkbp:bfsParent |
gptkb:hereditary_sensory_and_autonomic_neuropathy_type_III
|
| gptkbp:bfsLayer |
6
|