FNS-Harmony

Last uploaded: November 2, 2023
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Preferred Name

DiGeorge syndrome
Synonyms
Definitions

A syndrome that has_material_basis_in a large deletion of the chromosome 22q11.2 region which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production.
ID

http://purl.obolibrary.org/obo/DOID_11198
definition

A syndrome that has_material_basis_in a large deletion of the chromosome 22q11.2 region which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production.
imported from

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

DiGeorge syndrome
prefixIRI

DOID:11198
prefLabel

DiGeorge syndrome
subClassOf

http://purl.obolibrary.org/obo/DOID_0050736

http://purl.obolibrary.org/obo/DOID_0060388

http://purl.obolibrary.org/obo/DOID_225
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http://purl.obolibrary.org/obo/DOID_11198 CLO SAME_URI
http://purl.obolibrary.org/obo/DOID_11198 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_11198 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_11198 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_11198 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_11198 NIFSTD SAME_URI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.621.207.103.500 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.482.249.500 RH-MESH LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_11198 NATPRO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.180.019.500 RH-MESH LOOM
http://purl.obolibrary.org/obo/DOID_11198 CLO LOOM
http://purl.obolibrary.org/obo/DOID_11198 DOID LOOM
http://purl.obolibrary.org/obo/DOID_11198 BAO LOOM
http://purl.obolibrary.org/obo/DOID_11198 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_11198 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_11198 NIFSTD LOOM
http://identifiers.org/omim/188400 REXO LOOM
http://identifiers.org/omim/188400 GEXO LOOM
http://identifiers.org/omim/188400 RETO LOOM
http://purl.bioontology.org/ontology/RCTV2/C391100 RCTV2 LOOM
rgo:13283 GAMUTS LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C14.240.400.021.500 RH-MESH LOOM
http://purl.jp/bio/4/id/200906099894098000 IOBC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.604.451.249.500 RH-MESH LOOM
http://purl.obolibrary.org/obo/OMIM_188400 CCO LOOM
http://purl.obolibrary.org/obo/OMIT_0005332 OMIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.240.400.021.500 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.077.019.500 RH-MESH LOOM
http://purl.bioontology.org/ontology/LNC/LA26660-3 LOINC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C19.642.482.500.500 RH-MESH LOOM
http://purl.bioontology.org/ontology/MESH/D004062 MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0008564 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0008564 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0008564 KTAO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00039954 PMAPP-PMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D004062 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0012236 OCHV LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#3934 OCHV LOOM
http://purl.obolibrary.org/obo/GSSO_006995 GSSO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.660.207.103.500 RH-MESH LOOM
http://purl.bioontology.org/ontology/RCD/C3911 RCD LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.260.019.500 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C14.280.400.044.500 RH-MESH LOOM
http://purl.bioontology.org/ontology/OMIM/188400 OMIM LOOM