About: hereditary folate malabsorption

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

medical condition

Attributes	Values
rdf:type	Item
owl:sameAs	hereditary folate malabsorption
description	medical condition (en) медичний стан (uk) äußerst seltene Erbkrankheit (de)
exact match	wds:Q1609733-A6A5E32B-FABB-4BAC-913B-234226038ED1 wds:Q1609733-CF204E01-4F93-4688-955F-0668B9A3DCB2 wds:Q1609733-DBB9D62C-F493-4112-88A5-C5343E6895FC
exact match	http://purl.obolibrary.org/obo/DOID_0111678 http://identifiers.org/doid/DOID:0111678 http://www.orpha.net/ORDO/Orphanet_90045
Mondo ID	wds:Q1609733-225C2610-F9A5-43C8-97BB-D104AC4B6CC4
Disease Ontology ID	wds:Q1609733-99DFA60F-742B-4AD1-B921-632830FA78BE
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0009238
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0111678
Mondo ID	MONDO_0009238
Disease Ontology ID	DOID:0111678
rdfs:label	Врожденная мальабсорбция фолатов (ru) Hereditäre Folat-Malabsorption (de) hereditary folate malabsorption (en) malabsorption héréditaire de l'acide folique (fr) سوء امتصاص الفولات الوراثي (ar)
skos:prefLabel	Врожденная мальабсорбция фолатов (ru) Hereditäre Folat-Malabsorption (de) hereditary folate malabsorption (en) malabsorption héréditaire de l'acide folique (fr) سوء امتصاص الفولات الوراثي (ar)
name	Врожденная мальабсорбция фолатов (ru) Hereditäre Folat-Malabsorption (de) hereditary folate malabsorption (en) malabsorption héréditaire de l'acide folique (fr) سوء امتصاص الفولات الوراثي (ar)
has effect	wds:Q1609733-989eafbd-4eb8-6ae3-b86f-b6b1b6f9baa8
has effect	folate deficiency
instance of	wds:Q1609733-4094A3A8-46FB-44E0-8E20-513F06D7C8B4 wds:Q1609733-977D57BB-DCBE-4CA5-A44B-2834F97A92C9 wds:Q1609733-B373B2E0-6346-45F7-9E4D-A807B9C7DED6 wds:Q1609733-EA62EDFB-0CE7-42F3-ADEA-95B8F4EE6D44
instance of	class of disease rare disease designated intractable/rare disease hereditary disorder
subclass of	wds:Q1609733-49DCE155-320B-4810-943F-344A62BFC7F1 wds:Q1609733-605D52DA-4850-4AEC-8574-144709519075 wds:Q1609733-6CFF7BE6-001C-49EE-8762-8CEE6D6D66F1 wds:Q1609733-7CD8FA68-3F35-428E-AE09-D82C1357134F wds:Q1609733-9E3947AA-1DD2-4FCD-BE1D-EC609CBCE72D wds:Q1609733-BEB100EA-70D1-4C25-B274-B5D485A3BB76 wds:Q1609733-F89701B8-6DD5-4157-BB92-4314D4920A6E
subclass of	autosomal recessive disease syndrome with combined immunodeficiency constitutional megaloblastic anemia due to folate metabolism disorder metabolic disease with intestinal involvement disorder of folate metabolism and transport vitamin metabolic disorder intestinal disease due to vitamin absorption anomaly
Google Knowledge Graph ID	wds:Q1609733-559FF4BE-C950-41A0-A1C4-9C16E9391973
KEGG ID	wds:Q1609733-73A6DD8A-6DC0-4BB4-9160-6865F757C4C8
Google Knowledge Graph ID	http://g.co/kg/g/1234zhxf
KEGG ID	http://www.kegg.jp/entry/H01252
Google Knowledge Graph ID	/g/1234zhxf
KEGG ID	H01252
UniProt disease ID	wds:Q1609733-16cc34de-4d3f-8338-f2a0-ff029dc49994
Orphanet ID	wds:Q1609733-3F1A3B2E-6A36-4288-AE7C-FDB86CE38BCB
genetic association	wds:Q1609733-B2BAFCC9-1296-4AC5-8D4F-5457B8B9A7F3
ICD-10-CM	wds:Q1609733-EC137B3E-DBE4-4940-9B65-530AB073EB48
GARD rare disease ID	wds:Q1609733-7269FD25-9730-4E89-9B8B-F08871C18746
OMIM ID	wds:Q1609733-3dbe0419-4fe4-ebe7-57d0-37b3b8c9ee53
Genetics Home Reference Conditions ID	wds:Q1609733-2F2DE0F3-B5C4-4EA8-B6BC-792BF5B29E77
UniProt disease ID	DI-01712
Orphanet ID	90045
genetic association	SLC46A1
ICD-10-CM	D52.8
GARD rare disease ID	12983
OMIM ID	229050
Genetics Home Reference Conditions ID	hereditary-folate-malabsorption
skos:altLabel	Congenital folate malabsorption (en) Congenital defect of folate absorption (en) FOLATE MALABSORPTION, HEREDITARY (en) Folate malabsorption (en) Folic acid transport defect (en)
external data available at URL	wds:Q1609733-31C5EB8C-4848-456C-AB2E-74B3BD76DFBE
NCI Thesaurus ID	wds:Q1609733-c25078f9-4f5b-abe9-cf3c-6af39b27ed13
UMLS CUI	wds:Q1609733-FED7F440-F722-49C5-9E35-4E87328DC560
MeSH descriptor ID	wds:Q1609733-5A547977-CF69-4822-8C68-7D36DD316DD1
Microsoft Academic ID	wds:Q1609733-962C483C-4A30-4E67-A049-39F0874393D4
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C562799
Microsoft Academic ID	https://makg.org/entity/2779589226
external data available at URL	http://www.nanbyou.or.jp/entry/4822
NCI Thesaurus ID	C156424
UMLS CUI	C0342705
MeSH descriptor ID	C562799
Microsoft Academic ID	2779589226
WikiProjectMed ID	wds:Q1609733-925CEFA6-B42E-428C-A232-A290F5CA22F4
WikiProjectMed ID	Hereditary folate malabsorption
is owl:sameAs of	hereditary folate malabsorption
is about of	hereditary folate malabsorption https://www.wikidata.org/wiki/Special:EntityData/Q1609733 Hereditary folate malabsorption https://de.wikipedia.org/wiki/Heredit%C3%A4re_Folat-Malabsorption

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