About: MHC class I deficiency

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About: MHC class I 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	Krankheit (de) Human disease (en) մարդու հիվանդություն (hy) хвороба людини (uk) مرض يصيب الإنسان (ar)
exact match	wds:Q18553590-2BC05535-59C4-4622-90AA-427B54DFC30D wds:Q18553590-2DDE740A-6E4B-4B7F-8C27-3FB96B073B47
exact match	http://purl.obolibrary.org/obo/DOID_0060009 http://identifiers.org/doid/DOID:0060009
ICD-10	wds:Q18553590-20c41ea8-47dc-fa5b-58c8-cdebe93c023f
Mondo ID	wds:Q18553590-0F808D0D-0105-462A-B468-AED73D60F535
Disease Ontology ID	wds:Q18553590-9E333C7F-64C9-4873-8058-CA75E0472029
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0011476
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0060009
ICD-10	D81.6
Mondo ID	MONDO_0011476
Disease Ontology ID	DOID:0060009
rdfs:label	déficit en complexe majeur d'histocompatibilité de classe I (fr) MHC class I deficiency (en)
skos:prefLabel	déficit en complexe majeur d'histocompatibilité de classe I (fr) MHC class I deficiency (en)
name	déficit en complexe majeur d'histocompatibilité de classe I (fr) MHC class I deficiency (en)
instance of	wds:Q18553590-2A85577B-79C6-4533-B8D6-3EA806485CB4
instance of	class of disease
subclass of	wds:Q18553590-54F5806F-F55F-478A-8930-D1B1E9944DDB wds:Q18553590-c53bcc72-4914-098f-13b2-75c8029cf623
subclass of	Bare lymphocyte syndrome severe combined immunodeficiency
KEGG ID	wds:Q18553590-CD9D3FD0-175B-4E0E-A245-6472613F6F26
KEGG ID	http://www.kegg.jp/entry/H00984
KEGG ID	H00984
UniProt disease ID	wds:Q18553590-c68015e8-46c2-3b2d-9c59-d963b9fe2268
OMIM ID	wds:Q18553590-1D13E537-C2CA-4947-B0E3-C86010BE303C
UniProt disease ID	DI-00170
OMIM ID	604571
Medical Dictionary...ory Activities ID	wds:Q18553590-9674BB6C-8827-4DEC-A261-096F58361038
Medical Dictionary...ory Activities ID	http://purl.bioontology.org/ontology/MDRFRE/10086668
Medical Dictionary...ory Activities ID	10086668
skos:altLabel	BLS, type I (en) BLSI (en) HLA class I deficiency (en) bare lymphocyte syndrome type 1 (en) bare lymphocyte syndrome type I (en)
NCI Thesaurus ID	wds:Q18553590-2eb5e4f9-450a-380f-cfd5-2bd9e3c1ee40
on focus list of Wikimedia project	wds:Q18553590-7DEE1BDD-A20B-430B-B961-623E5B1C2531
ICD-11 ID (MMS)	wds:Q18553590-0796BC40-9142-4E43-99A5-8FD9655B8F6C
ICD-11 (foundation)	wds:Q18553590-D85D7951-4E2C-492D-B492-EC4CA7B732BE
NCI Thesaurus ID	C171267
on focus list of Wikimedia project	WikiProject Medicine
ICD-11 ID (MMS)	4A01.11
ICD-11 (foundation)	489749747
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q18553590
is main subject of	MHC Class I Deficiency: Susceptibility to Natural Killer (NK) Cells and Impaired NK Activity Homozygous human TAP peptide transporter mutation in HLA class I deficiency Tolerance of NK and LAK activity for HLA class I-deficient targets in a TAP1-deficient patient (bare lymphocyte syndrome type I) Novel human pathological mutations. Gene symbol: TAP2. Disease: HLA class I deficiency HLA class I deficiency as an additional cause of bronchiectasis - Reply. HLA class I deficiency syndrome mimicking Wegener's granulomatosis. Prolonged survival of a bare lymphocyte syndrome type I patient with diffuse panbronchiolitis treated with erythromycin A novel mutation in TAP1 gene leading to MHC class I deficiency: Report of two cases and review of the literature Novel human pathological mutations. Gene symbol: TAP2. Disease: HLA class I deficiency HLA class I deficiency as an additional cause of bronchiectasis Bone marrow transplantation for MHC class I deficiency corrects T-cell immunity but dissociates natural killer cell repertoire formation from function Granulomatous disease associated with HLA class I deficiency
is main subject of	wds:Q78023754-6160FF90-38A3-4E22-A42E-9199D7C33678 wds:Q81319732-20046B2E-DEC1-4993-8921-66ADDB546137 wds:Q51612987-DA5509BE-1388-453D-A788-F30B6087B0F7 wds:Q94602588-2CF25894-47BD-44D6-BEC9-F7C6CEBDDA42 wds:Q46345857-E329355F-41E6-47F7-9A98-F96798A97F5A wds:Q85588105-D0AAEEEC-330C-4F18-A483-6113F4B80BA7 wds:Q39119852-1C90FF80-A17A-4FB9-B023-5BCACDC4AF70 wds:Q28118298-4A2EF76B-FB0D-459C-BBD0-F074C14849B9 wds:Q37474814-F5B3BB0F-8991-410C-9F5A-9B0D8305367B wds:Q74593968-3DE29DD7-ED55-40C8-8B2D-0C936ED00932 wds:Q54522183-3835390A-AD11-4B07-AA19-D7BAED744E2F wds:Q73740843-917EF12F-9985-4D98-8337-FF3DB6F1A92B
is established from medical condition of	TND-3 STF-1 STF1-169 BRE BRE-169 ST-EMO
is established from medical condition of	wds:Q54970575-92982F88-666E-42AB-BD24-EA1AD23CEB64 wds:Q54798211-759702B6-076C-4C78-96D6-37BAA2859DD5 wds:Q107116958-3091A202-0C3F-4345-A7E0-8B2557EBED06 wds:Q54972727-0C754F87-9C74-4690-8867-DF9182523DA4 wds:Q54955737-5F983FE4-1E3A-42E6-B4DD-BE02058242AF wds:Q107113507-CED2C34D-EC1A-4A39-92F3-3462CAC4A5E7

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