Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
humans
|
| gptkbp:alsoKnownAs |
gptkb:Donohue_syndrome
|
| gptkbp:associatedWith |
failure to thrive
hyperinsulinemia |
| gptkbp:characterizedBy |
distinct facial features
low birth weight thick lips growth retardation severe insulin resistance enlarged genitalia |
| gptkbp:firstDescribed |
1948
|
| https://www.w3.org/2000/01/rdf-schema#label |
leprechaunism
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:INSR_gene
|
| gptkbp:namedAfter |
W.L. Donohue
|
| gptkbp:OMIM |
246200
|
| gptkbp:prevalence |
extremely rare
|
| gptkbp:prognosis |
poor
|
| gptkbp:symptomsAppear |
at birth
|
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:Donohue_syndrome
|
| gptkbp:bfsLayer |
7
|