About: enteropeptidase deficiency

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About: enteropeptidase deficiency Goto Sponge NotDistinct Permalink

An Entity of Type : wikibase:Item, within Data Space : wikidata.demo.openlinksw.com associated with source document(s)

human disease

Attributes	Values
rdf:type	Item
description	human disease (en) Krankheit (de) malattia (it) մարդու հիվանդություն (hy) хвороба людини (uk)
exact match	wds:Q3043136-9B1E0FC8-B62A-4C73-986A-C10A47114E01 wds:Q3043136-D3909BF8-C11B-49E8-96A5-9EC3D9857504
exact match	http://purl.obolibrary.org/obo/DOID_0111667 http://identifiers.org/doid/DOID:0111667
Mondo ID	wds:Q3043136-4EE0F36D-3B13-4BC1-ABD3-408CF1E21105
Disease Ontology ID	wds:Q3043136-941062EB-6089-4BF5-A335-E5E3BB774699
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0009173
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0111667
Mondo ID	MONDO_0009173
Disease Ontology ID	DOID:0111667
rdfs:label	déficience en entérokinase (fr) enteropeptidase deficiency (en) pomanjkanje enteropeptidaze (sl)
skos:prefLabel	déficience en entérokinase (fr) enteropeptidase deficiency (en) pomanjkanje enteropeptidaze (sl)
name	déficience en entérokinase (fr) enteropeptidase deficiency (en) pomanjkanje enteropeptidaze (sl)
instance of	wds:Q3043136-3804CE6C-C669-4F41-BD08-46E762C6781A wds:Q3043136-879AF475-ADAB-4670-8ED9-9B5762EB49B1
instance of	class of disease rare disease
subclass of	wds:Q3043136-0A8804F8-730A-49AE-A2F3-C55989493691 wds:Q3043136-28AA6977-E9FD-4F4E-9F5C-FB5090AF7FBB wds:Q3043136-B65EEA1C-1489-407A-886B-7AB5D360FF2F
subclass of	intestinal disease autosomal recessive disease congenital intestinal disease due to an enzymatic defect
Google Knowledge Graph ID	wds:Q3043136-90551EB8-38C1-4110-98B5-61E09CBD0C28
KEGG ID	wds:Q3043136-B2FFBF2E-673F-40A9-92FF-1837A00432AC
Google Knowledge Graph ID	http://g.co/kg/g/122qxxy6
KEGG ID	http://www.kegg.jp/entry/H00988
Google Knowledge Graph ID	/g/122qxxy6
KEGG ID	H00988
UniProt disease ID	wds:Q3043136-95ebb3f8-4b99-969d-48a9-5776220bcae5
Orphanet ID	wds:Q3043136-A4E8CA78-11C8-418A-9A49-291ADB038852
ICD-9-CM	wds:Q3043136-BE8C31C9-747B-4655-B620-019BFDEC4EF7
genetic association	wds:Q3043136-D5321A4C-574D-4B69-B912-2848923BA5E2
ICD-10-CM	wds:Q3043136-26049649-3C68-4542-9D24-0BA2EACA03D1
OMIM ID	wds:Q3043136-89cd5a27-4919-fc99-ff8f-f4553d37eef9
UniProt disease ID	DI-01528
Orphanet ID	168601
ICD-9-CM	277.89
genetic association	TMPRSS15
ICD-10-CM	K90.8
OMIM ID	226200
skos:altLabel	Congenital enterokinase deficiency (en) Deficience en enterokinase (fr) ENTEROKINASE DEFICIENCY (en) Enteropeptidase Deficiency (en) déficit en entéropeptidase (fr) enterokinase deficiency (en)
UMLS CUI	wds:Q3043136-AF532E01-839E-44A9-BCF4-AA4EBE25C06E
MeSH descriptor ID	wds:Q3043136-a8686e38-4e13-5b6d-feee-363e1f4714fb
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C562649
UMLS CUI	C0268416
MeSH descriptor ID	C562649
is owl:sameAs of	enteropeptidase deficiency
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q3043136 https://fr.wikipedia.org/wiki/D%C3%A9ficience_en_ent%C3%A9rokinase
is main subject of	INTESTINAL ENTEROKINASE DEFICIENCY Intestinal enterokinase deficiency Malabsorption and growth failure due to intestinal enterokinase deficiency Mutations in the proenteropeptidase gene are the molecular cause of congenital enteropeptidase deficiency Arrhythmogenic right ventricular dysplasia in a child with congenital enteropeptidase deficiency and hypogammaglobulinaemia Intestinal enteropeptidase deficiency associated with exocrine pancreatic insufficiency Proceedings: Enterokinase deficiency Novel Compound Heterozygous TMPRSS15 Gene Variants Cause Enterokinase Deficiency The activation of human pancreatic proteinases. Studies on human pancreatic juice and duodenal juice of four children with intestinal enterokinase deficiency [Congenital enterokinase deficiency] Intestinal enterokinase deficiency Primary intestinal enteropeptidase deficiency Congenital enterokinase deficiency Enterokinase deficiency and vitamin B12 absorption Rapid semiquantitative tests for trypsin and chymotrypsin application to screening for cystic fibrosis, enterokinase deficiency and pancreatic hypoplasia in neonates [The current status of the problem of enterokinase deficiency]
is main subject of	wds:Q28239715-BD1CEFC5-140E-47E4-B2E4-B935C5F2AB52 wds:Q44617827-2506B32C-4590-48D4-B26D-916B6A03FEEE wds:Q72532877-1CF6C3D3-202F-4D7D-9D99-EC9FF11A485C wds:Q67317916-829E415C-C5DE-40AE-AA7D-B69BFD552ECB wds:Q100651542-8C3D661C-DBB5-49E6-B4C6-8325BA6608E3 wds:Q71848402-DFB44728-7294-4E78-A502-E984CA4E4534 wds:Q74722923-D62FF971-6F01-44E5-80E0-22F812BF918E wds:Q29028495-BFB52E2B-D6CD-4FD2-AB5D-C8BB37627546 wds:Q24633221-2765A7AA-CF90-47A2-A640-D94CACDDFA31 wds:Q40792638-F8B35CDF-6890-41DB-8C8F-3F4FD33081CE wds:Q70307888-CE86692B-8A42-41ED-A556-A9AEF33D92F6 wds:Q69054690-24D28E79-8E17-43F1-9D1F-51DAB6CC326F wds:Q70250750-8B7E18A1-EC71-48CF-9156-738C2D01ACCD wds:Q70382911-313F01C4-7863-4762-B473-1D451E70895C wds:Q67803478-6D9366C5-DB83-4377-8CB5-CFD22F06EAA9 wds:Q28237561-6C04CDD6-50E4-4259-A2A2-66358A2BDDA9
is genetic association of	TMPRSS15

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