Statements (25)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
autonomic nervous system disorder |
| gptkbp:alsoKnownAs |
gptkb:Riley-Day_syndrome
|
| gptkbp:category |
hereditary sensory and autonomic neuropathy
|
| 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:mutationAssociatedWith |
gptkb:IKBKAP_gene
|
| gptkbp:namedAfter |
gptkb:Conrad_Milton_Riley
gptkb:Richard_Lawrence_Day |
| gptkbp:OMIM |
223900
|
| gptkbp:prevalence |
gptkb:Ashkenazi_Jewish_population
|
| gptkbp:symptom |
gptkb:orthostatic_hypotension
dysautonomia insensitivity to pain poor growth recurrent pneumonia absent tears gastrointestinal dysfunction |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:IKBKAP_gene
gptkb:Riley-Day_syndrome |
| gptkbp:bfsLayer |
6
|