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Late Infantile Neuronal Ceroid Lipofuscinosis
Source:
http://linkedlifedata.com/resource/umls/id/C0022340
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Subject
(
36
)
Predicate
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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:DISO
skos:definition
MSH: This type is caused by mutation in the CLN2 gene encoding tripeptidyl-peptidase I, a lysosomal serine protease.,NCI: Infantile neuronal ceroid lipofuscinosis in which the signs and symptoms appear later in life.
skos:inScheme
lld:umls
skos:broader
umls-concept:C0027877
skos-xl:prefLabel
umls-label:A12059666
skos-xl:altLabel
umls-label:A0076319
,
umls-label:A0076320
,
umls-label:A11932142
,
umls-label:A12018016
,
umls-label:A12032495
,
umls-label:A12987741
,
umls-label:A12992448
,
umls-label:A17701224
,
umls-label:A18629419
,
umls-label:A18648058
,
umls-label:A20912775
,
umls-label:A8342141
umls:relation
http://linkedlifedata.com/resource/umls/relation/R28427902
,
http://linkedlifedata.com/resource/umls/relation/R28503205
,
http://linkedlifedata.com/resource/umls/relation/R64587351
,
http://linkedlifedata.com/resource/umls/relation/R60578352
,
http://linkedlifedata.com/resource/umls/relation/R60694436
,
http://linkedlifedata.com/resource/umls/relation/R60533873
,
http://linkedlifedata.com/resource/umls/relation/R60578351
,
http://linkedlifedata.com/resource/umls/relation/R64589955
,
http://linkedlifedata.com/resource/umls/relation/R31977705
,
http://linkedlifedata.com/resource/umls/relation/R115133142
,
http://linkedlifedata.com/resource/umls/relation/R54740451
,
http://linkedlifedata.com/resource/umls/relation/R119333925
,
http://linkedlifedata.com/resource/umls/relation/R03346535
,
http://linkedlifedata.com/resource/umls/relation/R03346537
,
http://linkedlifedata.com/resource/umls/relation/R03346536
,
http://linkedlifedata.com/resource/umls/relation/R03346534
,
http://linkedlifedata.com/resource/umls/relation/R64686802