Bardet-Biedl syndrome

ciliopathic human genetic disorder that produces many effects and affects many body systems
rdfs:label
"Bardet-Biedl syndrome"@en
skos:altLabel "Sindrome de Bardet-Biedl"@es
schema:description
"ciliopathic human genetic disorder that produces many effects and affects many body systems"@en
schema:dateModified "2026-10-23T23:20:28+00:00"^^xsd:dateTime
schema:version 2560152907
wikibase:identifiers 23
25
wikibase:sitelinks 19
wikibase:statements 70
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p:direct-normalized/P244 <http://id.loc.gov/authorities/names/sh85075082>
p:direct-normalized/P486 <http://id.nlm.nih.gov/mesh/D020788>
p:direct-normalized/P6366 <https://makg.org/entity/2781232497>
p:direct-normalized/P665 <http://www.kegg.jp/entry/H00418>
p:direct-normalized/P672 <http://id.nlm.nih.gov/mesh/C10.228.140.617.200>
<http://id.nlm.nih.gov/mesh/C11.270.684.624>
<http://id.nlm.nih.gov/mesh/C16.131.077.245.125>
<http://id.nlm.nih.gov/mesh/C16.320.184.125>
p:direct-normalized/P699 <http://purl.obolibrary.org/obo/DOID_DOID:1935>
wdt:P10283 "C2781232497"
wdt:P11143 "Bardet–Biedl syndrome"
wdt:P11430 "DI-03107"
wdt:P1193 0.00005^^xsd:decimal
wdt:P138 Arthur Biedl
wdt:P14914 "D00110"
wdt:P1550 "110"
wdt:P1748 "C118632"
wdt:P1995 medical genetics
wdt:P2293 BBS1
BBS2
BBS4
NPHP1
MKKS
SDCCAG8
IFT27
TRIM32
IFT172
BBS9
SCAPER
WDPCP
LZTFL1
MKS1
BBS7
CCDC28B
BBS10
IFT74
CEP290
ARL6
CEP19
TMEM67
BBIP1
TTC8
BBS5
SCLT1
CFAP418
BBS12
wdt:P244 "sh85075082"
wdt:P279 autosomal recessive disease
syndromic obesity
wdt:P2841 congenital onset
neonatal onset
infantile onset
childhood onset
wdt:P2888 <http://identifiers.org/doid/DOID:1935>
<http://purl.obolibrary.org/obo/DOID_1935>
<http://www.orpha.net/ORDO/Orphanet_110>
wdt:P2892 "C0752166"
wdt:P31 type of disease
rare disease
wdt:P3219 "syndrome-de-laurence-moon-bardet-biedl"
wdt:P373 "Bardet–Biedl syndrome"
wdt:P4229 "Q87.89"
wdt:P4317 "6866"
wdt:P486 "D020788"
wdt:P492 "209900"
wdt:P493 "759.89"
wdt:P5008 WikiProject Medicine
wdt:P557 "7286"
wdt:P6366 "2781232497"
wdt:P646 "/m/05rgf2"
wdt:P6532 inherited genitourinary tract anomalies
wdt:P665 "H00418"
wdt:P668 "NBK1363"
wdt:P672 "C10.228.140.617.200"
"C11.270.684.624"
"C16.131.077.245.125"
"C16.320.184.125"
wdt:P699 "DOID:1935"
wdt:P8189 "987007558013505171"
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