Drug Target Ontology

Last uploaded: February 15, 2018
Preferred Name

Nijmegen breakage syndrome
Synonyms
Definitions

OMIM mapping confirmed by DO. [SN].

ID

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

comment

OMIM mapping confirmed by DO. [SN].

hasDbXref

UMLS_CUI:C0398791

OMIM:251260

NCI:C4692

SNOMEDCT_US_2016_03_01:234638009

MESH:D049932

hasExactSynonym

Berlin breakage syndrome

Seemanova syndrome

Microcephaly, normal intelligence and immunodeficiency (disorder)

hasOBONamespace

disease_ontology

id

DOID:7400

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

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_7400 CLO 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/DOID_7400 FNS-H 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 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 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