Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
Preferred Name

DONOHUE SYNDROME

Synonyms

LEPRECHAUNISM

ID

http://purl.bioontology.org/ontology/OMIM/246200

altLabel

LEPRECHAUNISM

INSULIN RECEPTOR, DEFECT IN

cui

C0271689

C0265344

Gene Locus

19p13.2

Gene Symbol

INSR

HHF5

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU011871

http://purl.bioontology.org/ontology/OMIM/MTHU004160

http://purl.bioontology.org/ontology/OMIM/MTHU001763

http://purl.bioontology.org/ontology/OMIM/MTHU011884

http://purl.bioontology.org/ontology/OMIM/MTHU011880

http://purl.bioontology.org/ontology/OMIM/MTHU011881

http://purl.bioontology.org/ontology/OMIM/MTHU000372

http://purl.bioontology.org/ontology/OMIM/MTHU001452

http://purl.bioontology.org/ontology/OMIM/MTHU006937

http://purl.bioontology.org/ontology/OMIM/MTHU037101

http://purl.bioontology.org/ontology/OMIM/MTHU002029

http://purl.bioontology.org/ontology/OMIM/MTHU011878

http://purl.bioontology.org/ontology/OMIM/MTHU011869

http://purl.bioontology.org/ontology/OMIM/MTHU001049

http://purl.bioontology.org/ontology/OMIM/MTHU010103

http://purl.bioontology.org/ontology/OMIM/MTHU011872

http://purl.bioontology.org/ontology/OMIM/MTHU000566

http://purl.bioontology.org/ontology/OMIM/MTHU036357

http://purl.bioontology.org/ontology/OMIM/MTHU011873

http://purl.bioontology.org/ontology/OMIM/MTHU011866

http://purl.bioontology.org/ontology/OMIM/MTHU001789

http://purl.bioontology.org/ontology/OMIM/MTHU011877

http://purl.bioontology.org/ontology/OMIM/MTHU011875

http://purl.bioontology.org/ontology/OMIM/MTHU011879

http://purl.bioontology.org/ontology/OMIM/MTHU037221

http://purl.bioontology.org/ontology/OMIM/MTHU011874

http://purl.bioontology.org/ontology/OMIM/MTHU011868

http://purl.bioontology.org/ontology/OMIM/MTHU002089

http://purl.bioontology.org/ontology/OMIM/MTHU011902

http://purl.bioontology.org/ontology/OMIM/MTHU002092

http://purl.bioontology.org/ontology/OMIM/MTHU011883

http://purl.bioontology.org/ontology/OMIM/MTHU002088

http://purl.bioontology.org/ontology/OMIM/MTHU001311

http://purl.bioontology.org/ontology/OMIM/MTHU001687

http://purl.bioontology.org/ontology/OMIM/MTHU001062

http://purl.bioontology.org/ontology/OMIM/MTHU011882

http://purl.bioontology.org/ontology/OMIM/MTHU011876

http://purl.bioontology.org/ontology/OMIM/MTHU004047

http://purl.bioontology.org/ontology/OMIM/MTHU001437

http://purl.bioontology.org/ontology/OMIM/MTHU011867

http://purl.bioontology.org/ontology/OMIM/MTHU011870

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

246200

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

DONOHUE SYNDROME

Scope Statement

Caused by mutation in the insulin receptor gene (INSR, 147670.0002) [MOLECULAR BASIS]

Death often in early infancy [MISCELLANEOUS]

tui

T047

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/SNOMEDCT/10680005 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MSHFRE/D056731 MSHFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/10680005 SCTSPA CUI
http://purl.bioontology.org/ontology/SNMI/DB-61620 SNMI CUI
http://purl.bioontology.org/ontology/MESH/C562709 MESH CUI
http://purl.bioontology.org/ontology/SNOMEDCT/111307005 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRGER/10081896 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10081896 MEDDRA CUI
http://purl.bioontology.org/ontology/NDFRT/N0000181087 NDFRT CUI
http://purl.bioontology.org/ontology/MDRGER/10081903 MDRGER CUI
http://purl.bioontology.org/ontology/RCD/C1zy3 RCD CUI
http://purl.bioontology.org/ontology/MEDDRA/10081903 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10081896 MDRFRE CUI
http://purl.bioontology.org/ontology/SNMI/D4-01224 SNMI CUI
http://purl.bioontology.org/ontology/MESH/D056731 MESH CUI
http://purl.bioontology.org/ontology/MDRFRE/10081903 MDRFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/111307005 SCTSPA CUI
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 NIFSTD 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://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