Preferred Name

Donohue syndrome

Synonyms

Leprechaunism

Definitions

OMIM mapping confirmed by DO. [SN]. 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

comment

OMIM mapping confirmed by DO. [SN].

database_cross_reference

SNOMEDCT_US_2023_03_01:111307005

UMLS_CUI:C0265344

UMLS_CUI:C0271695

OMIM:246200

NCI:C131000

MESH:D056731

SNOMEDCT_US_2023_03_01:33559001

NCI:C84676

ORDO:508

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.

has exact synonym

Leprechaunism

has material basis in

http://purl.obolibrary.org/obo/GENO_0000148

has_obo_namespace

disease_ontology

id

DOID:0050470

in_subset

http://purl.obolibrary.org/obo/doid#NCIthesaurus

http://purl.obolibrary.org/obo/doid#DO_rare_slim

label

Donohue syndrome

notation

DOID:0050470

prefLabel

Donohue syndrome

subClassOf

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

http://purl.obolibrary.org/obo/DOID_225

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Delete Mapping To Ontology Source
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 DOID 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 FNS-H SAME_URI
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 DOID 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 FNS-H 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 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0009517 MONDO 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