SHMARQL

Bannayan-Riley-Ruvalcaba syndrome

<http://www.wikidata.org/entity/Q474254>

a rare overgrowth syndrome and hamartomatous disorder with occurrence of multiple subcutaneous lipomas, macrocephaly and hemangiomas.
rdfs:label
"Bannayan-Riley-Ruvalcaba syndrome"@en
skos:altLabel
"BANNAYAN-RILEY-RUVALCABA SYNDROME; BRRS"@en
"BRRS"@en
"BZS"@en
"Bannayan syndrome"@en
"Bannayan-Riley-Ruvalcaba Syndrome"@en
"Bannayan-Zonana syndrome"@en
"Macrocephaly multiple lipomas and hemangiomata"@en
"Macrocephaly pseudopapilledema and multiple hemangiomas"@en
"Macrocephaly with Multiple Lipomas and Hemangiomas"@en
"Macrocephaly, Multiple Lipomas, and Hemangiomata"@en
"Macrocephaly, Pseudopapilledema, and Multiple Hemangiomata"@en
"Myhre-Riley-Smith syndrome"@en
"RMSS"@en
"RUVALCABA-MYHRE-SMITH SYNDROME"@en
"Riley-Smith syndrome"@en
"Ruvalcaba -Myhre-Smith syndrome"@en
"Ruvalcaba-Myhre syndrome"@en
schema:description
"a rare overgrowth syndrome and hamartomatous disorder with occurrence of multiple subcutaneous lipomas, macrocephaly and hemangiomas."@en
schema:dateModified "2026-10-23T23:20:24+00:00"^^xsd:dateTime
schema:version 2560152892
wikibase:identifiers 16
18
wikibase:sitelinks 9
wikibase:statements 69
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p:direct-normalized/P5270 <http://purl.obolibrary.org/obo/MONDO_0007924>
p:direct-normalized/P6366 <https://makg.org/entity/2778630296>
p:direct-normalized/P699 <http://purl.obolibrary.org/obo/DOID_DOID:0050657>
wdt:P11143 "Bannayan–Riley–Ruvalcaba syndrome"
wdt:P14914 "D00109"
wdt:P1550 "109"
wdt:P1692 "759.6"
wdt:P1748 "C3939"
wdt:P1995 medical genetics
oncology
wdt:P2293 PTEN
wdt:P279 autosomal dominant disease
penile disease
multiple hamartoma syndrome
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
genetic skin vascular disorder
genetic syndromic intellectual disability
complex vascular malformation with associated anomalies
inherited digestive tract tumor
rare genetic vascular tumor
rare nervous system tumor
overgrowth syndrome
brain cancer
wdt:P2841 neonatal onset
infantile onset
wdt:P2888 <http://identifiers.org/doid/DOID:0050657>
<http://purl.obolibrary.org/obo/DOID_0050657>
<http://www.orpha.net/ORDO/Orphanet_109>
wdt:P2892 "C0265326"
wdt:P31 type of disease
rare disease
wdt:P3471 "52944"
wdt:P4229 "Q87.8"
"Q87.89"
wdt:P4233 "brrs"
wdt:P4317 "5887"
wdt:P492 "158350"
wdt:P5008 WikiProject Medicine
wdt:P5270 "MONDO_0007924"
wdt:P557 "31337"
wdt:P6366 "2778630296"
wdt:P646 "/m/0bdch8"
wdt:P6532 micrognathism
Subcutaneous hemorrhage
Abnormal large intestine morphology
Irregular hyperpigmentation
Visceral angiomatosis
Cronkhite-Canada syndrome
skeletal muscle atrophy
scoliosis
hypotonia
angina pectoris
lymphoma
breast neoplasm
muscle weakness
meningioma
Macrotia
intracranial hemorrhage
neurofibromatosis type 6
cachexia
aortic aneurysm
macrocephaly
muscular disease
dolichocephaly
short stature
skull bossing
Bundesautobahn 9
wdt:P668 "NBK1488"
wdt:P699 "DOID:0050657"
wdt:P7807 "357383447"
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