FNS-Harmony

Last uploaded: November 2, 2023
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Preferred Name

Donohue syndrome
Synonyms
Definitions

A syndrome that is characterized by protuberant and low-set ears, flaring nostrils, thick lips, enlarged secondary sex organs and overwhelming insulin resistance and has_material_basis_in mutation within the INSR gene causing abnormalities in the insulin receptor.
ID

http://purl.obolibrary.org/obo/DOID_0050470
definition

A syndrome that is characterized by protuberant and low-set ears, flaring nostrils, thick lips, enlarged secondary sex organs and overwhelming insulin resistance and has_material_basis_in mutation within the INSR gene causing abnormalities in the insulin receptor.
imported from

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

Donohue syndrome
prefixIRI

DOID:0050470
prefLabel

Donohue 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_0050470 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_0050470 CLO SAME_URI
http://purl.obolibrary.org/obo/DOID_0050470 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_0050470 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_0050470 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_0050470 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/MONDO_0009517 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0009517 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_0050470 DOID LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_0050470 NATPRO LOOM
http://purl.obolibrary.org/obo/DOID_0050470 CLO LOOM
http://purl.obolibrary.org/obo/DOID_0050470 DTO LOOM
http://purl.obolibrary.org/obo/DOID_0050470 BAO LOOM
http://purl.obolibrary.org/obo/DOID_0050470 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0050470 NIFSTD LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.660.207.325 RH-MESH LOOM
urn:agi-folder:donohue_syndrome BPT LOOM
http://purl.bioontology.org/ontology/MEDDRA/10081896 MEDDRA LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84676 NCIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C19.246.537 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D056731 RH-MESH LOOM
http://www.phoc.org.cn/pmo/class/PMO_00039952 PMAPP-PMO LOOM
http://purl.bioontology.org/ontology/OMIM/246200 OMIM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.394.750.654 RH-MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0009517 DOVES LOOM
http://purl.obolibrary.org/obo/OMIT_0026700 OMIT LOOM
http://purl.bioontology.org/ontology/MESH/D056731 MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.215 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.077.313 RH-MESH LOOM
http://purl.obolibrary.org/obo/NCIT_C84676 BERO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Donohue_Syndrome CSEO LOOM
http://purl.jp/bio/4/id/200906014490744336 IOBC LOOM