Properties (46)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:advertising |
conducted to increase understanding
|
| gptkbp:advocacy |
exist to promote research and awareness
|
| gptkbp:associatedWith |
developmental delays
recurrent infections joint problems poor temperature regulation |
| gptkbp:causedBy |
mutation_in_the_IKBKAP_gene
|
| gptkbp:clinicalTrials |
ongoing for new treatments
varied severity |
| gptkbp:community |
growing among healthcare professionals
|
| gptkbp:communitySupport |
important for affected individuals
|
| gptkbp:demographics |
more_common_in_Ashkenazi_Jews
|
| gptkbp:diseaseResistance |
genetic testing
clinical evaluation |
| gptkbp:educational_programs |
available for families and patients
|
| gptkbp:educationalPrograms |
developed for healthcare providers
|
| gptkbp:firstDescribedBy |
Dr._Rachel_Riley
|
| gptkbp:geneticDiversity |
autosomal recessive
increased in recent years recommended for affected families |
| gptkbp:hasCapacity |
available through various organizations
|
| gptkbp:hasService |
established by medical guidelines
|
| gptkbp:healthcare |
exists for data collection
|
| gptkbp:historicalSignificance |
important in the study of genetic disorders
|
| https://www.w3.org/2000/01/rdf-schema#label |
Riley-Day syndrome
|
| gptkbp:impact |
symptomatic management
autonomic nervous system significant emotional and financial burden |
| gptkbp:legalEvent |
reduced compared to general population
|
| gptkbp:lengthOverall |
being studied in ongoing research.
|
| gptkbp:previouslyKnownAs |
familial dysautonomia
|
| gptkbp:relatedPatent |
other forms of dysautonomia
|
| gptkbp:releaseYear |
1949
|
| gptkbp:research |
sought for further studies
|
| gptkbp:researchFocus |
gene therapy
improving quality of life understanding pathophysiology |
| gptkbp:symptoms |
nutritional support
physical therapy occupational therapy psychological support hypotension gastrointestinal issues sweating abnormalities loss of pain sensation |