DONOHUE SYNDROME
LEPRECHAUNISM
http://purl.bioontology.org/ontology/OMIM/246200
INSULIN RECEPTOR, DEFECT IN
C0271689
C0265344
19p13.2
INSR
HHF5
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
Phenotype description, molecular basis known.
246200
3
pound
Caused by mutation in the insulin receptor gene (INSR, 147670.0002) [MOLECULAR BASIS]
Death often in early infancy [MISCELLANEOUS]
T047