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- B032e23ff9a5479787bc14f3b77609773 hasDbXref "Orphanet:2976" @default.
- B032e23ff9a5479787bc14f3b77609773 type Axiom @default.
- B032e23ff9a5479787bc14f3b77609773 annotatedProperty IAO_0000115 @default.
- B032e23ff9a5479787bc14f3b77609773 annotatedSource MONDO_0008211 @default.
- B032e23ff9a5479787bc14f3b77609773 annotatedTarget "Pseudoleprechaunism syndrome, Patterson type is a rare, genetic, adrenal disorder characterized by congenital bronzed hyperpigmentation, cutis laxa of the hands and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability. Patients additionally present hyperadrenocorticism, cushingoid features, premature adrenarche and diabetes mellitus, as well as skeletal deformities (not present at birth and which progress with age). There have been no further descriptions in the literature since 1981." @default.