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Preferred Name

Nijmegen breakage syndrome
Synonyms

Ataxia-Telangiectasia Variant 1

Seemanova Syndrome

Berlin Breakage Syndrome
Definitions

characterized by short stature, progressive microcephaly with loss of cognitive skills, premature ovarian failure in females, recurrent sinopulmonary infections, and an increased risk for cancer, particularly lymphoma.
ID

http://purl.bioontology.org/ontology/CSP/5005-0018
altLabel

Ataxia-Telangiectasia Variant 1

Seemanova Syndrome

Berlin Breakage Syndrome
cui

C0398791
definition

characterized by short stature, progressive microcephaly with loss of cognitive skills, premature ovarian failure in females, recurrent sinopulmonary infections, and an increased risk for cancer, particularly lymphoma.
DID

5005-0018
Inverse of RB

http://purl.bioontology.org/ontology/CSP/0485-2495
Inverse of RO

http://purl.bioontology.org/ontology/CSP/2537-1658

http://purl.bioontology.org/ontology/CSP/1254-7856
notation

5005-0018
prefLabel

Nijmegen breakage syndrome
tui

T047
subClassOf

http://purl.bioontology.org/ontology/CSP/0485-2495
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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/OMIM/251260 OMIM CUI
http://purl.bioontology.org/ontology/MDRFRE/10067857 MDRFRE CUI
http://purl.bioontology.org/ontology/OMIM/602667 OMIM 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.obolibrary.org/obo/DOID_7400 DOID 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://purl.obolibrary.org/obo/DOID_7400 FNS-H 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 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0009623 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0009623 DOVES LOOM
http://purl.bioontology.org/ontology/PDQ/CDR0000725398 PDQ 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