Preferred Name

NONHOMOLOGOUS END-JOINING FACTOR 1

Synonyms

SEVERE COMBINED IMMUNODEFICIENCY WITH MICROCEPHALY, GROWTH RETARDATION, AND SENSITIVITY TO IONIZING RADIATION

ID

http://purl.bioontology.org/ontology/OMIM/611290

altLabel

SEVERE COMBINED IMMUNODEFICIENCY WITH MICROCEPHALY, GROWTH RETARDATION, AND SENSITIVITY TO IONIZING RADIATION

XRCC4-LIKE FACTOR

NEJ1, S. CEREVISIAE, HOMOLOG OF

SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION DUE TO NHEJ1 DEFICIENCY

NHEJ1

CERNUNNOS

XLF

cui

C1969799

C1826402

Gene Locus

2q35

Gene Symbol

XLF

NHEJ1

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/611290.0004

http://purl.bioontology.org/ontology/OMIM/611290.0005

http://purl.bioontology.org/ontology/OMIM/611290.0002

http://purl.bioontology.org/ontology/OMIM/611290.0001

http://purl.bioontology.org/ontology/OMIM/611290.0003

MIMTYPEMEANING

Gene with known sequence

notation

611290

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

NONHOMOLOGOUS END-JOINING FACTOR 1

tui

T028

T047

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/PR_000011199 Protein Ontology / 蛋白质本体 LOOM
http://purl.obolibrary.org/obo/PR_000011199 Experimental Factor Ontology / 实验性因素本体 LOOM
http://www.orpha.net/ORDO/Orphanet_159501 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.bioontology.org/ontology/MESH/C566970 Medical Subject Headings / 医学主题词表 CUI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C88515 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM