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Donohue syndrome

Disease Summary
Associated Targets (1)
Tclin

1


Explore Associated Targets
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: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Parents
Tbio

3563

Tchem

726

Tdark

516

Tclin

395

Tbio

2337

Tdark

654

Tchem

474

Tclin

202

Tbio

1892

Tchem

356

Tdark

238

Tclin

136

Tbio

1410

Tchem

373

Tclin

191

Tdark

97

Tbio

31

Tchem

10

Tclin

6

Children
Target Novelty (Tin-x)