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- Bc415c9328ce655127471f79d272f30d9 hasDbXref "Orphanet:2976" @default.
- Bc415c9328ce655127471f79d272f30d9 type Axiom @default.
- Bc415c9328ce655127471f79d272f30d9 annotatedProperty IAO_0000115 @default.
- Bc415c9328ce655127471f79d272f30d9 annotatedSource MONDO_0008211 @default.
- Bc415c9328ce655127471f79d272f30d9 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.