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FH
Source:
http://linkedlifedata.com/resource/umls/id/C0745103
Search
Subject
(
94
)
Predicate
Object
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Inference
Explicit and implicit
Explicit only
Implicit only
Statements in which the resource exists as a subject.
Predicate
Object
rdf:type
umls-semnetwork:T047
,
skos:Concept
calbc:hasCorrelation
calbc-group:CONC
,
calbc-group:DISO
,
calbc-group:GENE
skos:definition
MSH: Hypercholesterolemia that is caused by mutation in the LOW DENSITY LIPOPROTEIN RECEPTOR gene. This receptor defect prevents LDL binding to the cell membrane and uptake of cholesterol which normally suppresses further cholesterol synthesis.
skos:inScheme
lld:umls
skos:broader
umls-concept:C0020445
skos-xl:prefLabel
umls-label:A10924694
skos-xl:altLabel
umls-label:A10904829
,
umls-label:A10907188
,
umls-label:A10907191
,
umls-label:A10908021
,
umls-label:A11934308
,
umls-label:A11934309
,
umls-label:A11994154
,
umls-label:A12006097
,
umls-label:A16991770
,
umls-label:A16991771
,
umls-label:A16997134
,
umls-label:A16999911
,
umls-label:A16999912
,
umls-label:A16999913
,
umls-label:A16999914
,
umls-label:A16999915
,
umls-label:A17002649
,
umls-label:A17005426
,
umls-label:A19287771
,
umls-label:A19292864
,
umls-label:A20273748
,
umls-label:A20273749
,
umls-label:A20905190
,
umls-label:A20907111
,
umls-label:A20907112
,
umls-label:A20909032
,
umls-label:A8365662
umls:relation
http://linkedlifedata.com/resource/umls/relation/R54899796
,
http://linkedlifedata.com/resource/umls/relation/R54903848
,
http://linkedlifedata.com/resource/umls/relation/R111766068
,
http://linkedlifedata.com/resource/umls/relation/R111766069
,
http://linkedlifedata.com/resource/umls/relation/R111766070
,
http://linkedlifedata.com/resource/umls/relation/R111766071
,
http://linkedlifedata.com/resource/umls/relation/R111766072
,
http://linkedlifedata.com/resource/umls/relation/R54890993
,
http://linkedlifedata.com/resource/umls/relation/R111766079
,
http://linkedlifedata.com/resource/umls/relation/R111766080
,
http://linkedlifedata.com/resource/umls/relation/R111766081
,
http://linkedlifedata.com/resource/umls/relation/R111766082
,
http://linkedlifedata.com/resource/umls/relation/R111766083
,
http://linkedlifedata.com/resource/umls/relation/R132907209
,
http://linkedlifedata.com/resource/umls/relation/R60623672
,
http://linkedlifedata.com/resource/umls/relation/R132907210
,
http://linkedlifedata.com/resource/umls/relation/R60696518
,
http://linkedlifedata.com/resource/umls/relation/R132907655
,
http://linkedlifedata.com/resource/umls/relation/R111754236
,
http://linkedlifedata.com/resource/umls/relation/R111754237
,
http://linkedlifedata.com/resource/umls/relation/R111756762
,
http://linkedlifedata.com/resource/umls/relation/R111758095
,
http://linkedlifedata.com/resource/umls/relation/R111758096
,
http://linkedlifedata.com/resource/umls/relation/R111758097
,
http://linkedlifedata.com/resource/umls/relation/R111758098
,
http://linkedlifedata.com/resource/umls/relation/R111758099
,
http://linkedlifedata.com/resource/umls/relation/R111759398
,
http://linkedlifedata.com/resource/umls/relation/R111760737
,
http://linkedlifedata.com/resource/umls/relation/R132908253
,
http://linkedlifedata.com/resource/umls/relation/R132908293
,
http://linkedlifedata.com/resource/umls/relation/R132899889
,
http://linkedlifedata.com/resource/umls/relation/R132899894
,
http://linkedlifedata.com/resource/umls/relation/R132885953
,
http://linkedlifedata.com/resource/umls/relation/R132899890
,
http://linkedlifedata.com/resource/umls/relation/R132899892
,
http://linkedlifedata.com/resource/umls/relation/R132899893
,
http://linkedlifedata.com/resource/umls/relation/R132899891
,
http://linkedlifedata.com/resource/umls/relation/R132899896
,
http://linkedlifedata.com/resource/umls/relation/R132899895
,
http://linkedlifedata.com/resource/umls/relation/R132903315
,
http://linkedlifedata.com/resource/umls/relation/R132905568
,
http://linkedlifedata.com/resource/umls/relation/R132905569
,
http://linkedlifedata.com/resource/umls/relation/R132905570
,
http://linkedlifedata.com/resource/umls/relation/R132905571
,
http://linkedlifedata.com/resource/umls/relation/R132905572
,
http://linkedlifedata.com/resource/umls/relation/R132905573
,
http://linkedlifedata.com/resource/umls/relation/R132909541
,
http://linkedlifedata.com/resource/umls/relation/R134646477
,
http://linkedlifedata.com/resource/umls/relation/R134650284
,
http://linkedlifedata.com/resource/umls/relation/R134650285
,
http://linkedlifedata.com/resource/umls/relation/R134650286
,
http://linkedlifedata.com/resource/umls/relation/R134646895
,
http://linkedlifedata.com/resource/umls/relation/R134647301
,
http://linkedlifedata.com/resource/umls/relation/R54745032
,
http://linkedlifedata.com/resource/umls/relation/R55382055
,
http://linkedlifedata.com/resource/umls/relation/R110100827
,
http://linkedlifedata.com/resource/umls/relation/R133595370
,
http://linkedlifedata.com/resource/umls/relation/R110100824