Statements (24)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:genetic_disorder
gptkb:rare_disease |
| gptkbp:affects |
gptkb:insulin_receptor
|
| gptkbp:alsoKnownAs |
gptkb:leprechaunism
|
| gptkbp:characterizedBy |
gptkb:hypertrichosis
gptkb:acanthosis_nigricans growth retardation severe insulin resistance dysmorphic facial features enlarged genitalia |
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
gptkb:Donohue_WL
1948 |
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:lifeExpectancy |
usually less than 2 years
|
| gptkbp:mutationAssociatedWith |
gptkb:INSR_gene
|
| gptkbp:OMIM |
246200
|
| gptkbp:onset |
infancy
|
| gptkbp:prognosis |
poor
|
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:Insulin_receptor
gptkb:INSR |
| gptkbp:bfsLayer |
7
|
| https://www.w3.org/2000/01/rdf-schema#label |
Donohue syndrome
|