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Donohue syndrome

Disease Summary
Associated Targets (1)
Tclin

1


GARD Rare
Mondo Description Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome) characterized by intrauterine and mainly postnatal severe growth retardation.
Uniprot Description Represents the most severe form of insulin resistance syndrome, characterized by intrauterine and postnatal growth retardation and death in early infancy. Inheritance is autosomal recessive.
Disease Ontology Description An autosomal recessive disease 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.
Mondo Term and Equivalent IDs
MONDO:0009517:  Donohue syndrome
GARD:0006885: 
MESH:D056731: 
NCIT:C84676: 
Orphanet:508: 
SCTID:111307005: 
UMLS:C0265344: