About: Niemann–Pick disease, SMPD1-associated

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Niemann–Pick disease, SMPD1-associated refers to two different types of Niemann–Pick disease which are associated with the SMPD1 gene. There are approximately 1,200 cases of NPA and NPB worldwide with the majority of cases being Type B or an intermediate form. Descriptions of type E and type F have been published, but they are not well characterized, and are currently classified under type B.

Attributes	Values
rdf:type	Thing Disease yago:WikicatAutosomalRecessiveDisorders yago:WikicatLipidStorageDisorders yago:Abstraction100002137 yago:Attribute100024264 yago:Condition113920835 yago:Disease114070360 yago:Disorder114052403 yago:GeneticDisease114151139 yago:IllHealth114052046 yago:Illness114061805 yago:PathologicalState114051917 yago:PhysicalCondition114034177 yago:WikicatGeneticDisorders disease yago:State100024720
rdfs:label	Maladie de Niemann-Pick (fr) Niemann–Pick disease, SMPD1-associated (en)
rdfs:comment	Niemann–Pick disease, SMPD1-associated refers to two different types of Niemann–Pick disease which are associated with the SMPD1 gene. There are approximately 1,200 cases of NPA and NPB worldwide with the majority of cases being Type B or an intermediate form. Descriptions of type E and type F have been published, but they are not well characterized, and are currently classified under type B. (en) La maladie de Niemann-Pick est due à un déficit en sphingomyélinase acide lysosomiale ; elle aboutit à l'accumulation de sphingomyéline, puis de cholestérol dans les monocytes, voire dans le cerveau (type A). Cette maladie a été décrite en 1914 par un pédiatre allemand, (de) ; dans les années 1930, un autre médecin allemand, (de) a publié plusieurs articles sur cette pathologie. On distingue deux types de Maladie de Niemann-Pick selon la présence (type A) ou l'absence (type B) de manifestations neurologiques. (fr)
foaf:name	Niemann–Pick disease, SMPD1-associated (en)
name	Niemann–Pick disease, SMPD1-associated (en)
dcterms:subject	Autosomal recessive disorders Lipid storage disorders
Wikipage page ID	20058346 (xsd:integer)
Wikipage revision ID	1048869739 (xsd:integer)
Link from a Wikipage to another Wikipage	Endocrinology Nervous system Enzyme Autosomal recessive disorders Lysosomes Cell (biology) Lipid Niemann–Pick disease Failure to thrive Hepatosplenomegaly Jaundice Ashkenazi Jews Acid sphingomyelinase Lipid storage disorders Blood cell Platelets Enlarged liver Lung Sphingomyelin Lysosomal ILDS SMPD1 SMPD1 (gene)
sameAs	Niemann–Pick disease, SMPD1-associated Niemann–Pick disease, SMPD1-associated Niemann–Pick disease, SMPD1-associated Niemann–Pick disease, SMPD1-associated
specialty	Endocrinology
dbp:wikiPageUsesTemplate	dbt:Cn dbt:Empty_section dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:Reflist dbt:OMIM dbt:DiseasesDB2 dbt:Lipid_storage_disorders
DiseasesDB	9016 (xsd:integer)
ICD	272.700000 (xsd:double) (en) E75.2 (en)
MeshID	D009542 (en)
OMIM	257200 (xsd:integer)
has abstract	Niemann–Pick disease, SMPD1-associated refers to two different types of Niemann–Pick disease which are associated with the SMPD1 gene. There are approximately 1,200 cases of NPA and NPB worldwide with the majority of cases being Type B or an intermediate form. Descriptions of type E and type F have been published, but they are not well characterized, and are currently classified under type B. (en) La maladie de Niemann-Pick est due à un déficit en sphingomyélinase acide lysosomiale ; elle aboutit à l'accumulation de sphingomyéline, puis de cholestérol dans les monocytes, voire dans le cerveau (type A). Cette maladie a été décrite en 1914 par un pédiatre allemand, (de) ; dans les années 1930, un autre médecin allemand, (de) a publié plusieurs articles sur cette pathologie. On distingue deux types de Maladie de Niemann-Pick selon la présence (type A) ou l'absence (type B) de manifestations neurologiques. (fr)
eMedicineSubj	derm (en)
eMedicineTopic	699 (xsd:integer)
GeneReviewsName	Acid Sphingomyelinase Deficiency (en)
GeneReviewsNBK	NBK1370 (en)
geneReviewsId	NBK1370
geneReviewsName	Acid Sphingomyelinase Deficiency (en)
ICD9	272.7
eMedicine subject	(en) derm (en)
eMedicine topic	699 (en) (en)
MeSH ID	D009542
medical specialty	Endocrinology
prov:wasDerivedFrom	wikipedia-en:Niemann–Pick_disease,_SMPD1-associated?oldid=1048869739&ns=0
page length (characters) of wiki page	4325 (xsd:nonNegativeInteger)
DiseasesDB	9016
ICD10	E75.2 (ILDSE75.230)
OMIM id	257200 (xsd:integer)
foaf:isPrimaryTopicOf	wikipedia-en:Niemann–Pick_disease,_SMPD1-associated
is Link from a Wikipage to another Wikipage of	Niemann-Pick disease, SMPD1-associated Niemann–Pick disease Niemann–Pick disease, type C Human genome

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