Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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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/MTHU011870

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

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

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

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

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU011886

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

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

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

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

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

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

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

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

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU028168

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Phenotype description, molecular basis known.
notation

246200
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

DONOHUE SYNDROME
tui

T047
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Delete Mapping To Ontology Source
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84676 National Cancer Institute Thesaurus LOOM
http://purl.bioontology.org/ontology/MESH/D056731 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/D056731 Medical Subject Headings LOOM
http://purl.obolibrary.org/obo/DOID_0050470 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/MESH/C562709 Medical Subject Headings CUI