FNS-Harmony

Last uploaded: November 2, 2023
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Preferred Name

Nijmegen breakage syndrome
Synonyms
Definitions

A syndrome characterized by chromosomal instability, microcephaly, growth retardation, immunodeficiency, cellular hypersensitivity to X-rays, and predisposition to cancer that has_material_basis_in homozygous or compound heterozygous mutation in NBN on chromosome 8q21.3.
ID

http://purl.obolibrary.org/obo/DOID_7400
definition

A syndrome characterized by chromosomal instability, microcephaly, growth retardation, immunodeficiency, cellular hypersensitivity to X-rays, and predisposition to cancer that has_material_basis_in homozygous or compound heterozygous mutation in NBN on chromosome 8q21.3.
imported from

http://purl.obolibrary.org/obo/doid.owl
label

Nijmegen breakage syndrome
prefixIRI

DOID:7400
prefLabel

Nijmegen breakage syndrome
subClassOf

http://purl.obolibrary.org/obo/DOID_0050737

http://purl.obolibrary.org/obo/DOID_225
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http://purl.obolibrary.org/obo/DOID_7400 CLO SAME_URI
http://purl.obolibrary.org/obo/DOID_7400 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_7400 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_7400 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_7400 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_7400 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_7400 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/MONDO_0009623 MONDO LOOM
http://nanbyodata.jp/ontology/NANDO_2200706 NANDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.284.600 RH-MESH LOOM
http://purl.obolibrary.org/obo/OMIT_0024248 OMIT LOOM
http://purl.obolibrary.org/obo/OMIM_251260 CCO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_2823 HRDO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_7400 NATPRO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00038519 PMAPP-PMO LOOM
http://purl.bioontology.org/ontology/MESH/D049932 MESH LOOM
http://purl.bioontology.org/ontology/MEDDRA/10067857 MEDDRA LOOM
http://purl.obolibrary.org/obo/DOID_7400 DTO LOOM
http://purl.obolibrary.org/obo/DOID_7400 DOID LOOM
http://purl.obolibrary.org/obo/DOID_7400 BAO LOOM
http://purl.obolibrary.org/obo/DOID_7400 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_7400 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_7400 NIFSTD LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C4692 NCIT LOOM
rgo:27236 GAMUTS LOOM
http://www.orpha.net/ORDO/Orphanet_647 ORDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D049932 RH-MESH LOOM
http://nanbyodata.jp/ontology/NANDO_1200332 NANDO LOOM
http://id.nlm.nih.gov/mesh/D049932 MDM LOOM
http://purl.obolibrary.org/obo/MONDO_0009623 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0009623 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0009623 DOVES LOOM
http://purl.bioontology.org/ontology/PDQ/CDR0000725398 PDQ LOOM
http://purl.bioontology.org/ontology/CSP/5005-0018 CRISP LOOM
http://purl.obolibrary.org/obo/NCIT_C4692 BERO LOOM
http://purl.bioontology.org/ontology/OMIM/251260 OMIM LOOM
http://purl.jp/bio/4/id/200906056714236689 IOBC LOOM
http://identifiers.org/omim/251260 REXO LOOM
http://identifiers.org/omim/251260 GEXO LOOM
http://identifiers.org/omim/251260 RETO LOOM