Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
hereditary sensory and autonomic neuropathy type III |
| gptkbp:affects |
autonomic nervous system
sensory nervous system |
| gptkbp:alsoKnownAs |
gptkb:familial_dysautonomia
|
| gptkbp:complication |
gptkb:orthostatic_hypotension
gptkb:aspiration_pneumonia gastrointestinal dysfunction |
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
1949
|
| gptkbp:frequency |
rare
|
| https://www.w3.org/2000/01/rdf-schema#label |
Riley-Day syndrome
|
| gptkbp:ICD-10_code |
gptkb:G90.0
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:IKBKAP_gene
|
| gptkbp:namedAfter |
gptkb:Conrad_M._Riley
gptkb:Richard_Day |
| gptkbp:OMIM |
223900
|
| gptkbp:prevalence |
most common in Ashkenazi Jewish population
|
| gptkbp:symptom |
difficulty swallowing
insensitivity to pain recurrent pneumonia absent tears poor temperature regulation |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:Familial_dysautonomia
|
| gptkbp:bfsLayer |
5
|