Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
Preferred Name

NIBRIN
Synonyms

OVARIAN CANCER, SUSCEPTIBILITY TO

APLASTIC ANEMIA

p95 PROTEIN OF THE MRE11/RAD50 COMPLEX

LYMPHOBLASTIC LEUKEMIA, ACUTE, SUSCEPTIBILITY TO

NBN

NIJMEGEN BREAKAGE SYNDROME

NBS1

ID

http://purl.bioontology.org/ontology/OMIM/602667

altLabel

OVARIAN CANCER, SUSCEPTIBILITY TO

APLASTIC ANEMIA

p95 PROTEIN OF THE MRE11/RAD50 COMPLEX

LYMPHOBLASTIC LEUKEMIA, ACUTE, SUSCEPTIBILITY TO

NBN

NIJMEGEN BREAKAGE SYNDROME

NBS1

cui

C3469523

C1334862

C0398791

C2748424

C0002874

Gene Locus

8q21

Gene Symbol

NBS1

NBN

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/602667.0001

http://purl.bioontology.org/ontology/OMIM/602667.0009

http://purl.bioontology.org/ontology/OMIM/602667.0003

http://purl.bioontology.org/ontology/OMIM/602667.0005

http://purl.bioontology.org/ontology/OMIM/602667.0007

http://purl.bioontology.org/ontology/OMIM/602667.0004

http://purl.bioontology.org/ontology/OMIM/602667.0006

http://purl.bioontology.org/ontology/OMIM/602667.0002

http://purl.bioontology.org/ontology/OMIM/602667.0008

http://purl.bioontology.org/ontology/OMIM/602667.0010

MIMTYPEMEANING

Gene with known sequence

notation

602667

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

NIBRIN

tui

T047

T033

T028

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/LNC/LP208431-9 LOINC CUI
http://purl.bioontology.org/ontology/MESH/D049932 MESH CUI
http://purl.bioontology.org/ontology/MEDDRA/10067857 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10067857 MDRGER CUI
http://purl.bioontology.org/ontology/NDFRT/N0000171677 NDFRT CUI
http://purl.bioontology.org/ontology/MSHFRE/D049932 MSHFRE CUI
http://purl.bioontology.org/ontology/PDQ/CDR0000725398 PDQ CUI
http://purl.bioontology.org/ontology/CSP/5005-0018 CRISP CUI
http://purl.bioontology.org/ontology/MDRFRE/10067857 MDRFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/234638009 SNOMEDCT CUI
http://purl.bioontology.org/ontology/RCD/X20Ie RCD CUI
http://purl.bioontology.org/ontology/SCTSPA/234638009 SCTSPA CUI
http://purl.bioontology.org/ontology/WHOFRE/0545 WHOFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/306058006 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDDRA/10002274 MEDDRA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/304132006 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRFRE/10002967 MDRFRE CUI
http://purl.bioontology.org/ontology/NDFRT/N0000000385 NDFRT CUI
http://purl.bioontology.org/ontology/ICD10CM/D61.9 ICD10CM CUI
http://purl.bioontology.org/ontology/SNMI/DC-11010 SNMI CUI
http://purl.bioontology.org/ontology/MEDDRA/10002969 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10002969 MDRGER CUI
http://purl.bioontology.org/ontology/CST/ANEMIA%20APLAST COSTART CUI
http://purl.bioontology.org/ontology/SCTSPA/304132006 SCTSPA CUI
http://purl.bioontology.org/ontology/ICPC2P/B82001 ICPC2P CUI
http://purl.bioontology.org/ontology/ICD10/D61.9 ICD10 CUI
http://purl.bioontology.org/ontology/RCD/D20.. RCD CUI
http://purl.bioontology.org/ontology/MDRGER/10002037 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10002037 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10002970 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10002274 MDRFRE CUI
http://purl.bioontology.org/ontology/PDQ/CDR0000489004 PDQ CUI
http://purl.bioontology.org/ontology/MDRFRE/10002037 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10002968 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10002967 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10002967 MDRGER CUI
http://purl.bioontology.org/ontology/SNOMEDCT/306058006 SNOMEDCT CUI
http://purl.bioontology.org/ontology/CSP/0427-0486 CRISP CUI
http://purl.bioontology.org/ontology/ICD9CM/284.9 ICD9CM CUI
http://purl.bioontology.org/ontology/MDRGER/10002274 MDRGER CUI
http://purl.bioontology.org/ontology/MSHFRE/D000741 MSHFRE CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0002874 MEDLINEPLUS CUI
http://purl.bioontology.org/ontology/MDRFRE/10002968 MDRFRE CUI
http://purl.bioontology.org/ontology/MESH/D000741 MESH CUI
http://purl.bioontology.org/ontology/MDRFRE/10002970 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10002970 MDRGER CUI
http://purl.bioontology.org/ontology/WHO/0545 WHO-ART CUI
http://purl.bioontology.org/ontology/MDRFRE/10002969 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10002968 MEDDRA CUI
http://purl.obolibrary.org/obo/PR_000011014 OBA LOOM
http://www.limics.org/hrdo/rdfns#gen_id_16518 HRDO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C21171 NCIT LOOM
http://purl.obolibrary.org/obo/PR_000011014 PR LOOM
http://purl.obolibrary.org/obo/PR_000011014 CCONT LOOM
http://purl.obolibrary.org/obo/PR_000011014 EFO LOOM
http://purl.obolibrary.org/obo/PR_000011014 EFO LOOM
http://purl.obolibrary.org/obo/PR_000011014 NIFSTD LOOM
http://purl.obolibrary.org/obo/PR_000011014 OBA LOOM
http://www.orpha.net/ORDO/Orphanet_123688 ORDO LOOM
http://purl.obolibrary.org/obo/NCIT_C21171 BERO LOOM