SHMARQL

Riley-Day syndrome

<http://www.wikidata.org/entity/Q2325854>

hereditary sensory and autonomic neuropathy type III (HSAN-III), is a disorder of the autonomic nervous system which affects the development and survival of sensory
Riley-Day syndrome
rdfs:label
"Riley-Day syndrome"@en
skos:altLabel
"Dysautonomia, Familial"@en
"HSAN 3"@en
"HSAN III"@en
"HSAN3"@en
"Hereditary Sensory and Autonomic Neuropathy Type III"@en
"Hereditary sensory and autonomic neuropathy type 3"@en
"NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3"@en
"Neuropathy, Hereditary Sensory and Autonomic, Type III"@en
"Riley-Day Syndrome"@en
"familial autonomic nervous dysfunction"@en
"familial dysautonomia"@en
schema:description
"hereditary sensory and autonomic neuropathy type III (HSAN-III), is a disorder of the autonomic nervous system which affects the development and survival of sensory"@en
schema:dateModified "2026-10-23T23:31:07+00:00"^^xsd:dateTime
schema:version 2560155553
wikibase:identifiers 30
32
wikibase:sitelinks 13
wikibase:statements 69
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p:P673 wd:statement/q2325854-E7990E69-CE00-4AA0-B0D6-4CA9561FE12F
p:P699 wd:statement/Q2325854-2CC52A98-D549-4EA1-A582-9144DD3F2756
p:P7329 wd:statement/Q2325854-213b4867-bcf6-4afc-b733-a1995f11669c
p:P7807 wd:statement/Q2325854-99C05558-36DD-44A7-ADF1-99338C567E84
p:direct-normalized/P486 <http://id.nlm.nih.gov/mesh/D004402>
p:direct-normalized/P5270 <http://purl.obolibrary.org/obo/MONDO_0009131>
p:direct-normalized/P6366 <https://makg.org/entity/2779696190>
p:direct-normalized/P665 <http://www.kegg.jp/entry/H01987>
p:direct-normalized/P672 <http://id.nlm.nih.gov/mesh/C10.177.575.300>
<http://id.nlm.nih.gov/mesh/C10.500.250.309>
<http://id.nlm.nih.gov/mesh/C10.574.500.493.250>
<http://id.nlm.nih.gov/mesh/C10.668.829.800.175.250>
<http://id.nlm.nih.gov/mesh/C16.131.666.310.309>
<http://id.nlm.nih.gov/mesh/C16.320.400.415.309>
p:direct-normalized/P699 <http://purl.obolibrary.org/obo/DOID_DOID:11589>
wdt:P10283 "C2779696190"
wdt:P11143 "Familial dysautonomia"
wdt:P11430 "DI-01566"
wdt:P1193 0.000001^^xsd:decimal
wdt:P13204 "hwaqmbjm"
wdt:P1417 "science/Riley-Day-syndrome"
wdt:P14914 "D01764"
wdt:P1550 "1764"
wdt:P1748 "C84706"
wdt:P18 <http://commons.wikimedia.org/wiki/Special:FilePath/Riley%20day.jpg>
wdt:P1995 neurology
wdt:P2293 ELP1
wdt:P279 hereditary sensory and autonomic neuropathy
autosomal recessive hereditary sensory and autonomic neuropathy
primary orthostatic hypotension
rare genetic developmental defect during embryogenesis
other genetic dermis disorder
other dermis disorder
nervous system anomaly with eye involvement
wdt:P2841 neonatal onset
infantile onset
childhood onset
wdt:P2888 <http://identifiers.org/doid/DOID:11589>
<http://purl.obolibrary.org/obo/DOID_11589>
<http://www.orpha.net/ORDO/Orphanet_1764>
wdt:P2892 "C0013364"
wdt:P31 type of disease
wdt:P373 "Familial dysautonomia"
wdt:P3827 "familial-dysautonomia"
wdt:P4229 "G90.1"
wdt:P4317 "7581"
wdt:P486 "D004402"
wdt:P492 "223900"
wdt:P493 "742.8"
wdt:P5008 WikiProject Medicine
wdt:P5270 "MONDO_0009131"
wdt:P557 "11631"
wdt:P604 "001387"
wdt:P6366 "2779696190"
wdt:P646 "/m/04hrt4"
wdt:P6532 kidney disease
EMG abnormality
Feeding difficulties in infancy
cerebellar ataxia
scoliosis
hypotonia
hypohidrosis
acrocyanosis
osteolysis
tachycardia
glomerulopathy
arterial hypertension
kidney failure
orthostatic hypotension
hyponatremia
gait abnormality
peripheral neuropathy
wdt:P665 "H01987"
wdt:P668 "NBK1180"
wdt:P672 "C10.177.575.300"
"C10.500.250.309"
"C10.574.500.493.250"
"C10.668.829.800.175.250"
"C16.131.666.310.309"
"C16.320.400.415.309"
wdt:P673 "1200921"
wdt:P699 "DOID:11589"
wdt:P7329 "8C21.1"
wdt:P7807 "831377479"
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