About: DNA ligase IV deficiency

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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) maladie (fr) մարդու հիվանդություն (hy) хвороба людини (uk) مرض يصيب الإنسان (ar) rzadki zespół wad wrodzonych spowodowany mutacjami w genie LIG4 (pl)
exact match	wds:Q6458655-F08E798A-5501-481E-AD0B-165497BAD364 wds:Q6458655-F36C05CD-99B5-4459-8395-C15F8E02088E wds:Q6458655-FD158441-E194-4CB3-8544-A5B412E46207
exact match	http://purl.obolibrary.org/obo/DOID_0060021 http://identifiers.org/doid/DOID:0060021 http://www.orpha.net/ORDO/Orphanet_99812
Mondo ID	wds:Q6458655-3D75772A-29BB-40F0-B86E-8B6BC29E93D8
Disease Ontology ID	wds:Q6458655-D9749279-84E5-4D65-9051-6D96074ADF52
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0011686
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0060021
Mondo ID	MONDO_0011686
Disease Ontology ID	DOID:0060021
rdfs:label	DNA ligase IV deficiency (en) LIG4-oireyhtymä (fi) Zespół LIG4 (pl) syndrome LIG4 (fr)
skos:prefLabel	DNA ligase IV deficiency (en) LIG4-oireyhtymä (fi) Zespół LIG4 (pl) syndrome LIG4 (fr)
name	DNA ligase IV deficiency (en) LIG4-oireyhtymä (fi) Zespół LIG4 (pl) syndrome LIG4 (fr)
instance of	wds:Q6458655-65E5D0F6-ACD7-4D12-B254-35DBC1AC3C7A wds:Q6458655-D4D4EAB6-D3C7-4462-AB6B-A9191B785A75 wds:Q6458655-E181A935-2FFD-4E50-8D76-8217D2C3AE88
instance of	class of disease rare disease genetic disease
subclass of	wds:Q6458655-062A4475-FEA7-437C-8E5F-E23774DE620B wds:Q6458655-2E657ABD-B802-4981-8454-D8F517BE002A wds:Q6458655-3DF362D1-F04C-4985-A3F9-C733AB881656 wds:Q6458655-41CC1938-92DE-4ABA-8CC8-989BAC38E451 wds:Q6458655-7F5A2D4F-D961-44FF-9C06-06371792F307 wds:Q6458655-D908BA7C-7B60-4A07-A48B-539BDA010609 wds:Q6458655-DC7725CB-E9ED-465F-9D7C-290A275414A6
subclass of	genetic disease combined immunodeficiency polymalformative genetic syndrome with increased risk of developing cancer autosomal recessive disease inherited tumor non-severe combined immunodeficiency rare genetic developmental defect during embryogenesis
KEGG ID	wds:Q6458655-5AA025E0-0CBD-49EE-89C4-9422E3AD0B42
KEGG ID	http://www.kegg.jp/entry/H02015
KEGG ID	H02015
UniProt disease ID	wds:Q6458655-9d40f563-4acc-802c-7810-0f44b537fdff
Orphanet ID	wds:Q6458655-b1aed97b-4bb0-8d14-f2a1-9727185740a0
genetic association	wds:Q6458655-C662CC0F-7906-4613-AF31-8E16B378DF32
ICD-10-CM	wds:Q6458655-6B53D8A8-22CE-4B2C-8A04-A8D9A571FB71
OMIM ID	wds:Q6458655-3945358D-72CB-4437-80C5-0F156CBF216F
UniProt disease ID	DI-01906
Orphanet ID	99812
genetic association	LIG4
ICD-10-CM	D81.1
OMIM ID	606593
Commons category	wds:Q6458655-69356f11-aaf2-4f98-824e-b6f900c09d04
Commons category	LIG4 syndrome
skos:altLabel	Déficit en DNA ligase IV (fr) LIG4 Syndrome (en) Ligase 4 syndrome (en)
NCI Thesaurus ID	wds:Q6458655-298f7a05-4d03-7ea0-eb69-f3df674acf3f
UMLS CUI	wds:Q6458655-ECD2E088-F022-45DD-82D8-9C4AA972DC02
MeSH descriptor ID	wds:Q6458655-941D909E-F877-4F66-98A0-2621A0A56D3C
on focus list of Wikimedia project	wds:Q6458655-FD52E7EF-57D9-4AFB-BFF3-DC61DF84175B
Microsoft Academic ID	wds:Q6458655-C8DBE3C9-5117-44F0-A05B-3A7D682943EE
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C564694
Microsoft Academic ID	https://makg.org/entity/2781061984
NCI Thesaurus ID	C122657
UMLS CUI	C1847827
MeSH descriptor ID	C564694
on focus list of Wikimedia project	WikiProject Medicine
Microsoft Academic ID	2781061984
WikiProjectMed ID	wds:Q6458655-67958B79-2787-4458-BA23-6DFB1495760F
WikiProjectMed ID	LIG4 syndrome
has phenotype	wds:Q6458655-348D25E6-80C7-42E6-ADD7-440DB45840BB
has phenotype	primary immunodeficiency disease
is owl:sameAs of	DNA ligase IV deficiency DNA ligase IV deficiency
is about of	https://pl.wikipedia.org/wiki/Zesp%C3%B3%C5%82_LIG4 https://www.wikidata.org/wiki/Special:EntityData/Q6458655 LIG4 syndrome Category:LIG4 syndrome https://fi.wikipedia.org/wiki/LIG4-oireyhtym%C3%A4
is main subject of	Defective neurogenesis resulting from DNA ligase IV deficiency requires Atm Analysis of DNA ligase IV mutations found in LIG4 syndrome patients: the impact of two linked polymorphisms Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failure Epstein-Barr virus-associated B-cell lymphoma in a patient with DNA ligase IV (LIG4) syndrome DNA ligase IV deficiency in mice leads to defective neurogenesis and embryonic lethality via the p53 pathway Two hits in one: whole genome sequencing unveils LIG4 syndrome and urofacial syndrome in a case report of a child with complex phenotype Homozygous DNA ligase IV R278H mutation in mice leads to leaky SCID and represents a model for human LIG4 syndrome

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